Neurology
Genetic testing can clearly diagnose many genetic disorders of the brain and nervous system. It can guide decisions towards more effective medical management and treatments. We have vast expert -knowledge of variants in more than 1,850 genes associated with neurological diseases. Our genetic tests can help diagnose inherited neurological conditions, such as delayed mental development, neurodegeneration, learning disabilities, movement disorders, and poor muscle control, quickly and comprehensively.
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NGS Panels Neurology – Product Sheet
A targeted approach for testing neurological disorders
Ataxia/Spastic paraplegia panel
Our Ataxia/Spastic paraplegia panel includes genes relevant to hereditary neurological disorders characterized by ataxia, including spinocerebellar ataxia (dominant and recessive), cerebellar ataxia, episodic ataxia, and pontocerebellar ataxia. These disorders normally share overlapping symptoms and can only be clearly differentiated by molecular genetic testing. Our ataxia panel is the best option for a patient displaying gait imbalance and uncoordinated walking (ataxia). The most common forms of inherited ataxia are caused by repeat expansion.
No. of genes: | 481 |
TAT: | 25 days |
Coverage: | ≥99.0% ≥20x |
Details: | Next-generation sequencing with CNV analysis included mtDNA analysis included |
Overview of Genes and Associated Diseases (OMIM) Included in This Panel
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8;Leukoencephalopathy, progressive, with ovarian failure | AR |
ABCB7 | 300135 | Anemia, sideroblastic, with ataxia | XLR |
ABCD1 | 300371 | Adrenoleukodystrophy;Adrenomyeloneuropathy, adult | XLR |
ABHD12 | 613599 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | AR |
ABHD5 | 604780 | Chanarin-Dorfman syndrome | AR |
ACAD9 | 611103 | MT complex I deficiency, nuclear type 20 | AR |
ACADVL | 609575 | VLCAD deficiency | AR |
ACO2 | 100850 | ?Optic atrophy 9;Infantile cerebellar-retinal degeneration | AR |
ADAR | 146920 | Aicardi-Goutieres syndrome 6;Dyschromatosis symmetrica hereditaria | AR, AD |
ADPRS | 610624 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | AR |
AFG3L2 | 604581 | Spinocerebellar ataxia 28;Spastic ataxia 5, AR;Optic atrophy 12 | AD, AR |
AGK | 610345 | Sengers syndrome;Cataract 38, AR | AR |
AGTPBP1 | 606830 | Neurodegeneration, childhood-onset, with cerebellar atrophy | AR |
AHI1 | 608894 | Joubert syndrome 3 | AR |
AIFM1 | 300169 | Cowchock syndrome;Combined oxidative phosphorylation deficiency 6;Deafness, X-linked 5;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy | XLR |
AIMP1 | 603605 | Leukodystrophy, hypomyelinating, 3 | AR |
ALAS2 | 301300 | Protoporphyria, erythropoietic, X-linked;Anemia, sideroblastic, 1 | XL, XLR |
ALDH18A1 | 138250 | Cutis laxa, AD 3;Cutis laxa, autosomal recessive, type IIIA;Spastic paraplegia 9B, AR;Spastic paraplegia 9A, AD | AD, AR |
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
ALS2 | 606352 | Amyotrophic lateral sclerosis 2, juvenile;Spastic paralysis, infantile onset ascending;Primary lateral sclerosis, juvenile | AR |
AMACR | 604489 | Bile acid synthesis defect, congenital, 4;Alpha-methylacyl-CoA racemase deficiency | AR |
AMPD2 | 102771 | ?Spastic paraplegia 63;Pontocerebellar hypoplasia, type 9 | AR |
ANO10 | 613726 | Spinocerebellar ataxia, autosomal recessive 10 | AR |
AP1S2 | 300629 | Mental retardation, X-linked syndromic 5 | XLR |
AP4B1 | 607245 | Spastic paraplegia 47, AR | AR |
AP4E1 | 607244 | Stuttering, familial persistent, 1;Spastic paraplegia 51, AR | AD, AR |
AP4M1 | 602296 | Spastic paraplegia 50, AR | AR |
AP4S1 | 607243 | Spastic paraplegia 52, AR | AR |
AP5Z1 | 613653 | Spastic paraplegia 48, AR | AR |
APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
ARG1 | 608313 | Argininemia | AR |
ARL13B | 608922 | Joubert syndrome 8 | AR |
ARL6 | 608845 | Retinitis pigmentosa 55;Bardet-Biedl syndrome 1, modifier of;Bardet-Biedl syndrome 3 | AR, AR, DR |
ARL6IP1 | 607669 | ?Spastic paraplegia 61, AR | AR |
ARSA | 607574 | Metachromatic leukodystrophy | AR |
ATCAY | 608179 | Ataxia, cerebellar, Cayman type | AR |
ATL1 | 606439 | Spastic paraplegia 3A, AD;Neuropathy, hereditary sensory, type ID | AD |
ATM | 607585 | Breast cancer, susceptibility to;Ataxia-telangiectasia | AD, SM, AR |
ATP13A2 | 610513 | Spastic paraplegia 78, AR;Kufor-Rakeb syndrome | AR |
ATP1A2 | 182340 | Developmental and epileptic encephalopathy 98;Alternating hemiplegia of childhood 1;Migraine, familial basilar;Migraine, familial hemiplegic, 2;Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | AD, AR |
ATP1A3 | 182350 | Alternating hemiplegia of childhood 2;Dystonia-12;Developmental and epileptic encephalopathy 99;CAPOS syndrome | AD |
ATP2B3 | 300014 | ?Spinocerebellar ataxia, X-linked 1 | XLR |
ATP2B4 | 108732 | ||
ATP7B | 606882 | Wilson disease | AR |
ATP8A2 | 605870 | ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | AR |
ATRX | 300032 | Mental retardation-hypotonic facies syndrome, X-linked;Alpha-thalassemia/mental retardation syndrome;Alpha-thalassemia myelodysplasia syndrome, somatic | XLR, XLD |
AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
B4GALNT1 | 601873 | Spastic paraplegia 26, AR | AR |
B9D1 | 614144 | ?Meckel syndrome 9;Joubert syndrome 27 | AR |
BBS1 | 209901 | Bardet-Biedl syndrome 1 | AR, DR |
BBS10 | 610148 | Bardet-Biedl syndrome 10 | AR |
BBS12 | 610683 | Bardet-Biedl syndrome 12 | AR |
BBS2 | 606151 | Bardet-Biedl syndrome 2;Retinitis pigmentosa 74 | AR |
BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
BBS5 | 603650 | Bardet-Biedl syndrome 5 | AR |
BBS7 | 607590 | Bardet-Biedl syndrome 7 | AR |
BBS9 | 607968 | Bardet-Biedl syndrome 9 | AR |
BCKDHA | 608348 | Maple syrup urine disease, type Ia | AR |
BCKDHB | 248611 | Maple syrup urine disease, type Ib | AR |
BCS1L | 603647 | GRACILE syndrome;Bjornstad syndrome;MT complex III deficiency, nuclear type 1 | AR |
BICD2 | 609797 | Spinal muscular atrophy, lower extremity-predominant, 2A, AD;Spinal muscular atrophy, lower extremity-predominant, 2B, AD | AD |
BLOC1S1 | 601444 | ||
BOLA3 | 613183 | Multiple MT dysfunctions syndrome 2 with hyperglycinemia | AR |
BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2;Encephalopathy, progressive, with or without lipodystrophy;Silver spastic paraplegia syndrome;Neuropathy, distal hereditary motor, type VC | AR, AD |
BTD | 609019 | Biotinidase deficiency | AR |
C19orf12 | 614297 | Neurodegeneration with brain iron accumulation 4;?Spastic paraplegia 43, AR | AD, AR, AR |
CA8 | 114815 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 | AR |
CACNA1A | 601011 | Episodic ataxia, type 2;Migraine, familial hemiplegic, 1;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia;Spinocerebellar ataxia 6;Developemental and epileptic encephalopathy 42 | AD |
CACNA1G | 604065 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits;Spinocerebellar ataxia 42 | AD |
CACNB4 | 601949 | Epilepsy, juvenile myoclonic, susceptibility to, 6;Epilepsy, idiopathic generalized, susceptibility to, 9;Episodic ataxia, type 5 | AD |
CAMTA1 | 611501 | Cerebellar ataxia, nonprogressive, with mental retardation | AD |
CAPN1 | 114220 | Spastic paraplegia 76, AR | AR |
CARS2 | 612800 | Combined oxidative phosphorylation deficiency 27 | AR |
CASK | 300172 | Mental retardation, with or without nystagmus;Mental retardation and microcephaly with pontine and cerebellar hypoplasia;FG syndrome 4 | XLD |
CC2D2A | 612013 | Meckel syndrome 6;Joubert syndrome 9;COACH syndrome 2 | AR |
CCDC88C | 611204 | Hydrocephalus, congenital, 1;?Spinocerebellar ataxia 40 | AR, AD |
CCT5 | 610150 | Neuropathy, hereditary sensory, with spastic paraplegia | AR |
CEP290 | 610142 | Leber congenital amaurosis 10;Meckel syndrome 4;?Bardet-Biedl syndrome 14;Senior-Loken syndrome 6;Joubert syndrome 5 | AR |
CEP41 | 610523 | Joubert syndrome 15 | AR |
CHMP1A | 164010 | Pontocerebellar hypoplasia, type 8 | AR |
CLCN2 | 600570 | Epilepsy, juvenile absence, susceptibility to, 2;Hyperaldosteronism, familial, type II;Epilepsy, juvenile myoclonic, susceptibility to, 8;Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with ataxia | AD, AR |
CLN5 | 608102 | Ceroid lipofuscinosis, neuronal, 5 | AR |
CLN6 | 606725 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset;Ceroid lipofuscinosis, neuronal, 6 | AR |
CLPB | 616254 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia | AR |
CLPP | 601119 | Perrault syndrome 3 | AR |
COA6 | 614772 | MT complex IV deficiency, nuclear type 13 | AR |
COA7 | 615623 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | AR |
COA8 | 616003 | MT complex IV deficiency, nuclear type 17 | AR |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6;Pontocerebellar hypoplasia, type 12 | AR |
COL4A1 | 120130 | ?Retinal arteries, tortuosity of;Hemorrhage, intracerebral, susceptibility to;Microangiopathy and leukoencephalopathy, pontine, AD;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with or without ocular anomalies | AD |
COL4A2 | 120090 | Hemorrhage, intracerebral, susceptibility to;Brain small vessel disease 2 | AD |
COQ2 | 609825 | Coenzyme Q10 deficiency, primary, 1;Multiple system atrophy, susceptibility to | AR, AD, AR |
COQ4 | 612898 | Coenzyme Q10 deficiency, primary, 7 | AR |
COQ6 | 614647 | Coenzyme Q10 deficiency, primary, 6 | AR |
COQ7 | 601683 | ?Coenzyme Q10 deficiency, primary, 8 | AR |
COQ8A | 606980 | Coenzyme Q10 deficiency, primary, 4 | AR |
COQ8B | 615567 | Nephrotic syndrome, type 9 | AR |
COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
COX10 | 602125 | MT complex IV deficiency, nuclear type 3 | AR |
COX15 | 603646 | MT complex IV deficiency, nuclear type 6 | AR |
COX20 | 614698 | MT complex IV deficiency, nuclear type 11 | AR |
COX6A1 | 602072 | Charcot-Marie-Tooth disease, recessive intermediate D | AR |
COX6B1 | 124089 | MT complex IV deficiency, nuclear type 7 | AR |
CP | 117700 | Cerebellar ataxia;Hemosiderosis, systemic, due to aceruloplasminemia;[Hypoceruloplasminemia, hereditary] | AR |
CPLANE1 | 614571 | Orofaciodigital syndrome VI;Joubert syndrome 17 | AR |
CPT1C | 608846 | ?Spastic paraplegia 73, AD | AD |
CSPP1 | 611654 | Joubert syndrome 21 | AR |
CSTB | 601145 | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | AR |
CWF19L1 | 616120 | Spinocerebellar ataxia, autosomal recessive 17 | AR |
CYC1 | 123980 | MT complex III deficiency, nuclear type 6 | AR |
CYP27A1 | 606530 | Cerebrotendinous xanthomatosis | AR |
CYP2U1 | 610670 | Spastic paraplegia 56, AR | AR |
CYP7B1 | 603711 | Spastic paraplegia 5A, AR;Bile acid synthesis defect, congenital, 3 | AR |
DAB1 | 603448 | Spinocerebellar ataxia 37 | AD |
DARS1 | 603084 | Hypomyelination with brainstem and spinal cord involvement and leg spasticity | AR |
DARS2 | 610956 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
DBT | 248610 | Maple syrup urine disease, type II | AR |
DDHD1 | 614603 | Spastic paraplegia 28, AR | AR |
DDHD2 | 615003 | Spastic paraplegia 54, AR | AR |
DGUOK | 601465 | Portal hypertension, noncirrhotic;Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 4;MT DNA depletion syndrome 3 (hepatocerebral type) | AR |
DHPS | 600944 | Neurodevelopmental disorder with seizures and speech and walking impairment | AR |
DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
DLD | 238331 | Dihydrolipoamide dehydrogenase deficiency | AR |
DNA2 | 601810 | ?Seckel syndrome 8;Progressive external ophthalmoplegia with MT DNA deletions, AD 6 | AR, AD |
DNAJC19 | 608977 | 3-methylglutaconic aciduria, type V | AR |
DNAJC5 | 611203 | Ceroid lipofuscinosis, neuronal, 4, Parry type | AD |
DNM1L | 603850 | Optic atrophy 5;Encephalopathy, lethal, due to defective MT peroxisomal fission 1 | AD, AD, AR |
DNMT1 | 126375 | Neuropathy, hereditary sensory, type IE;Cerebellar ataxia, deafness, and narcolepsy, AD | AD |
DOCK3 | 603123 | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | AR |
DSTYK | 612666 | Spastic paraplegia 23;Congenital anomalies of kidney and urinary tract 1 | AR, AD |
EARS2 | 612799 | Combined oxidative phosphorylation deficiency 12 | AR |
EBF3 | 607407 | Hypotonia, ataxia, and delayed development syndrome | AD |
ECHS1 | 602292 | MT short-chain enoyl-CoA hydratase 1 deficiency | AR |
EIF2B1 | 606686 | Leukoencephalopathy with vanishing white matter | AR |
EIF2B2 | 606454 | Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter | AR |
EIF2B3 | 606273 | Leukoencephalopathy with vanishing white matter | AR |
EIF2B4 | 606687 | Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter | AR |
EIF2B5 | 603945 | Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter | AR |
ELAC2 | 605367 | Prostate cancer, hereditary, 2, susceptibility to;Combined oxidative phosphorylation deficiency 17 | AR |
ELOVL4 | 605512 | Ichthyosis, spastic quadriplegia, and mental retardation;Stargardt disease 3;Spinocerebellar ataxia 34 | AR, AD |
ELOVL5 | 611805 | Spinocerebellar ataxia 38 | AD |
ENTPD1 | 601752 | Spastic paraplegia 64, AR | AR |
ERLIN1 | 611604 | Spastic paraplegia 62 | AR |
ERLIN2 | 611605 | Spastic paraplegia 18, AR | AR |
ETFA | 608053 | Glutaric acidemia IIA | AR |
ETFB | 130410 | Glutaric acidemia IIB | AR |
ETFDH | 231675 | Glutaric acidemia IIC | AR |
ETHE1 | 608451 | Ethylmalonic encephalopathy | AR |
EXOSC3 | 606489 | Pontocerebellar hypoplasia, type 1B | AR |
FA2H | 611026 | Spastic paraplegia 35, AR | AR |
FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14;Spastic paraplegia 77, AR | AR |
FASTKD2 | 612322 | Combined oxidative phosphorylation deficiency 44 | AR |
FAT2 | 604269 | Spinocerebellar ataxia 45 | AD |
FBXL4 | 605654 | MT DNA depletion syndrome 13 (encephalomyopathic type) | AR |
FDX2 | 614585 | MT myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | AR |
FDXR | 103270 | Auditory neuropathy and optic atrophy | AR |
FGF14 | 601515 | Spinocerebellar ataxia 27 | AD |
FH | 136850 | Fumarase deficiency;Leiomyomatosis and renal cell cancer | AR, AD |
FLAD1 | 610595 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | AR |
FLVCR1 | 609144 | Ataxia, posterior column, with retinitis pigmentosa | AR |
FOXRED1 | 613622 | MT complex I deficiency, nuclear type 19 | AR |
FTL | 134790 | Neurodegeneration with brain iron accumulation 3;Hyperferritinemia-cataract syndrome;L-ferritin deficiency, dominant and recessive | AD, AD, AR |
FXN | 606829 | Friedreich ataxia;Friedreich ataxia with retained reflexes | AR |
GAD1 | 605363 | ?Cerebral palsy, spastic quadriplegic, 1;Developmental and epileptic encephalopathy 89 | AR |
GALC | 606890 | Krabbe disease | AR |
GARS1 | 600287 | Spinal muscular atrophy, infantile, James type;Charcot-Marie-Tooth disease, type 2D;Neuronopathy, distal hereditary motor, type VA | AD |
GBA | 606463 | Lewy body dementia, susceptibility to;Gaucher disease, type IIIC;Parkinson disease, late-onset, susceptibility to;Gaucher disease, type II;Gaucher disease, type III;Gaucher disease, perinatal lethal;Gaucher disease, type I | AD, AR, AD, MF |
GBA2 | 609471 | Spastic paraplegia 46, AR | AR |
GCDH | 608801 | Glutaricaciduria, type I | AR |
GCH1 | 600225 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia;Hyperphenylalaninemia, BH4-deficient, B | AD, AR, AR |
GFAP | 137780 | Alexander disease | AD |
GFER | 600924 | Myopathy, MT progressive, with congenital cataract and developmental delay | AR |
GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
GFM2 | 606544 | Combined oxidative phosphorylation deficiency 39 | AR |
GJB1 | 304040 | Charcot-Marie-Tooth neuropathy, XLD, 1 | XLD |
GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2;Spastic paraplegia 44, AR;Lymphatic malformation 3 | AR, AD |
GLRX5 | 609588 | Spasticity, childhood-onset, with hyperglycinemia;Anemia, sideroblastic, 3, pyridoxine-refractory | AR |
GOSR2 | 604027 | Epilepsy, progressive myoclonic 6 | AR |
GRID2 | 602368 | Spinocerebellar ataxia, autosomal recessive 18 | AR |
GRM1 | 604473 | Spinocerebellar ataxia 44;Spinocerebellar ataxia, autosomal recessive 13 | AD, AR |
GSS | 601002 | Glutathione synthetase deficiency;Hemolytic anemia due to glutathione synthetase deficiency | AR |
GTPBP3 | 608536 | Combined oxidative phosphorylation deficiency 23 | AR |
HACE1 | 610876 | Spastic paraplegia and psychomotor retardation with or without seizures | AR |
HARS2 | 600783 | Perrault syndrome 2 | AR |
HEPACAM | 611642 | Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation;Megalencephalic leukoencephalopathy with subcortical cysts 2A | AD, AR |
HEXA | 606869 | Tay-Sachs disease;[Hex A pseudodeficiency];GM2-gangliosidosis, several forms | AR |
HEXB | 606873 | Sandhoff disease, infantile, juvenile, and adult forms | AR |
HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
HSPD1 | 118190 | Leukodystrophy, hypomyelinating, 4;Spastic paraplegia 13, AD | AR, AD |
HTRA2 | 606441 | Parkinson disease 13;3-methylglutaconic aciduria, type VIII | AR |
IARS2 | 612801 | ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | AR |
IBA57 | 615316 | ?Spastic paraplegia 74, AR;Multiple MT dysfunctions syndrome 3 | AR |
INPP5E | 613037 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis;Joubert syndrome 1 | AR |
IRF2BPL | 611720 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | AD |
ISCA2 | 615317 | Multiple MT dysfunctions syndrome 4 | AR |
ISCU | 611911 | Myopathy with lactic acidosis, hereditary | AR |
ITM2B | 603904 | Dementia, familial British;?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities;Dementia, familial Danish | AD |
ITPR1 | 147265 | Spinocerebellar ataxia 15;Spinocerebellar ataxia 29, congenital nonprogressive;Gillespie syndrome | AD, AD, AR |
KCNA1 | 176260 | Episodic ataxia/myokymia syndrome | AD |
KCNA2 | 176262 | Developmental and epileptic encephalopathy 32 | AD |
KCNC3 | 176264 | Spinocerebellar ataxia 13 | AD |
KCND3 | 605411 | Brugada syndrome 9;Spinocerebellar ataxia 19 | AD |
KCNJ10 | 602208 | Enlarged vestibular aqueduct, digenic;SESAME syndrome | AR |
KDM5C | 314690 | Mental retardation, X-linked, syndromic, Claes-Jensen type | XLR |
KIDINS220 | 615759 | Ventriculomegaly and arthrogryposis;Spastic paraplegia, intellectual disability, nystagmus, and obesity | AR, AD |
KIF1A | 601255 | NESCAV syndrome;Spastic paraplegia 30, AR;Neuropathy, hereditary sensory, type IIC;Spastic paraplegia 30, AD | AD, AD, AR, AR |
KIF1C | 603060 | Spastic ataxia 2, AR | AR |
KIF5A | 602821 | Amyotrophic lateral sclerosis, susceptibility to, 25;Myoclonus, intractable, neonatal;Spastic paraplegia 10, AD | AD |
KIF7 | 611254 | Joubert syndrome 12;?Hydrolethalus syndrome 2;?Al-Gazali-Bakalinova syndrome;Acrocallosal syndrome | AR |
L1CAM | 308840 | Hydrocephalus with congenital idiopathic intestinal pseudoobstruction;CRASH syndrome;Corpus callosum, partial agenesis of;Hydrocephalus with Hirschsprung disease;MASA syndrome;Hydrocephalus due to aqueductal stenosis | XLR |
LAMA1 | 150320 | Poretti-Boltshauser syndrome | AR |
LAMP2 | 309060 | Danon disease | XLD |
LARS2 | 604544 | ?Hydrops, lactic acidosis, and sideroblastic anemia;Perrault syndrome 4 | AR |
LIAS | 607031 | Hyperglycinemia, lactic acidosis, and seizures | AR |
LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
LMNB1 | 150340 | Leukodystrophy, adult-onset, AD;Microcephaly 26, primary, AD | AD |
LRPPRC | 607544 | MT complex IV deficiency, nuclear type 5, (French-Canadian) | AR |
LYRM7 | 615831 | MT complex III deficiency, nuclear type 8 | AR |
LYST | 606897 | Chediak-Higashi syndrome | AR |
MAG | 159460 | Spastic paraplegia 75, AR | AR |
MARS1 | 156560 | Charcot-Marie-Tooth disease, axonal, type 2U;?Trichothiodystrophy 9, nonphotosensitive;Interstitial lung and liver disease | AD, AR |
MARS2 | 609728 | Spastic ataxia 3, AR;?Combined oxidative phosphorylation deficiency 25 | AR |
MECR | 608205 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | AR |
MFF | 614785 | Encephalopathy due to defective MT and peroxisomal fission 2 | AR |
MFN2 | 608507 | Hereditary motor and sensory neuropathy VIA;Charcot-Marie-Tooth disease, axonal, type 2A2B;Charcot-Marie-Tooth disease, axonal, type 2A2A | AD, AR |
MGME1 | 615076 | MT DNA depletion syndrome 11 | AR |
MICU1 | 605084 | Myopathy with extrapyramidal signs | AR |
MKKS | 604896 | McKusick-Kaufman syndrome;Bardet-Biedl syndrome 6 | AR |
MKS1 | 609883 | Bardet-Biedl syndrome 13;Joubert syndrome 28;Meckel syndrome 1 | AR |
MLC1 | 605908 | Megalencephalic leukoencephalopathy with subcortical cysts | AR |
MPC1 | 614738 | MT pyruvate carrier deficiency | AR |
MPV17 | 137960 | Charcot-Marie-Tooth disease, axonal, type 2EE;MT DNA depletion syndrome 6 (hepatocerebral type) | AR |
MRE11 | 600814 | Ataxia-telangiectasia-like disorder 1 | AR |
MRPL3 | 607118 | Combined oxidative phosphorylation deficiency 9 | AR |
MRPL44 | 611849 | ?Combined oxidative phosphorylation deficiency 16 | AR |
MRPS16 | 609204 | Combined oxidative phosphorylation deficiency 2 | AR |
MRPS22 | 605810 | Ovarian dysgenesis 7;Combined oxidative phosphorylation deficiency 5 | AR |
MSTO1 | 617619 | Myopathy, MT, and ataxia | AD, AR |
MT-ATP6 | |||
MT-ATP8 | |||
MT-CO1 | |||
MT-CO2 | |||
MT-CO3 | |||
MT-CYB | |||
MT-ND1 | |||
MT-ND2 | |||
MT-ND3 | |||
MT-ND4 | |||
MT-ND4L | |||
MT-ND5 | |||
MT-ND6 | |||
MT-RNR1 | |||
MT-RNR2 | |||
MT-TA | |||
MT-TC | |||
MT-TD | |||
MT-TE | |||
MT-TF | |||
MT-TG | |||
MT-TH | |||
MT-TI | |||
MT-TK | |||
MT-TL1 | |||
MT-TL2 | |||
MT-TM | |||
MT-TN | |||
MT-TP | |||
MT-TQ | |||
MT-TR | |||
MT-TS1 | |||
MT-TS2 | |||
MT-TT | |||
MT-TV | |||
MT-TW | |||
MT-TY | |||
MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15;MT complex I deficiency, nuclear type 27 | AR |
MTO1 | 614667 | Combined oxidative phosphorylation deficiency 10 | AR |
MTPAP | 613669 | ?Spastic ataxia 4, AR | AR |
MTRFR | 613541 | Spastic paraplegia 55, AR;Combined oxidative phosphorylation deficiency 7 | AR |
MTTP | 157147 | Metabolic syndrome, protection against;Abetalipoproteinemia | AD, AR |
NARS2 | 612803 | ?Deafness, autosomal recessive 94;Combined oxidative phosphorylation deficiency 24 | AR |
NDUFA1 | 300078 | MT complex I deficiency, nuclear type 12 | XLR |
NDUFA10 | 603835 | MT complex I deficiency, nuclear type 22 | AR |
NDUFA11 | 612638 | MT complex I deficiency, nuclear type 14 | AR |
NDUFA12 | 614530 | ?MT complex I deficiency, nuclear type 23 | AR |
NDUFA2 | 602137 | MT complex I deficiency, nuclear type 13 | AR |
NDUFA9 | 603834 | MT complex I deficiency, nuclear type 26 | AR |
NDUFAF1 | 606934 | MT complex I deficiency, nuclear type 11 | AR |
NDUFAF2 | 609653 | MT complex I deficiency, nuclear type 10 | AR |
NDUFAF3 | 612911 | MT complex I deficiency, nuclear type 18 | AR |
NDUFAF4 | 611776 | MT complex I deficiency, nuclear type 15 | AR |
NDUFAF5 | 612360 | MT complex I deficiency, nuclear type 16 | AR |
NDUFAF6 | 612392 | MT complex I deficiency, nuclear type 17;Fanconi renotubular syndrome 5 | AR |
NDUFB3 | 603839 | MT complex I deficiency, nuclear type 25 | AR |
NDUFS1 | 157655 | MT complex I deficiency, nuclear type 5 | AR |
NDUFS2 | 602985 | MT complex I deficiency, nuclear type 6 | AR |
NDUFS3 | 603846 | MT complex I deficiency, nuclear type 8 | AR |
NDUFS4 | 602694 | MT complex I deficiency, nuclear type 1 | AR |
NDUFS6 | 603848 | MT complex I deficiency, nuclear type 9 | AR |
NDUFS7 | 601825 | MT complex I deficiency, nuclear type 3 | AR |
NDUFS8 | 602141 | MT complex I deficiency, nuclear type 2 | AR |
NDUFV1 | 161015 | MT complex I deficiency, nuclear type 4 | AR |
NDUFV2 | 600532 | MT complex I deficiency, nuclear type 7 | AR |
NFU1 | 608100 | Multiple MT dysfunctions syndrome 1 | AR |
NIPA1 | 608145 | Spastic paraplegia 6, AD | AD |
NKX6-2 | 605955 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | AR |
NPC1 | 607623 | Niemann-Pick disease, type C1;Niemann-Pick disease, type D | AR |
NPC2 | 601015 | Niemann-pick disease, type C2 | AR |
NPHP1 | 607100 | Joubert syndrome 4;Nephronophthisis 1, juvenile;Senior-Loken syndrome-1 | AR |
NR2F1 | 132890 | Bosch-Boonstra-Schaaf optic atrophy syndrome | AD |
NT5C2 | 600417 | Spastic paraplegia 45, AR | AR |
NUBPL | 613621 | MT complex I deficiency, nuclear type 21 | AR |
OFD1 | 300170 | Joubert syndrome 10;Simpson-Golabi-Behmel syndrome, type 2;?Retinitis pigmentosa 23;Orofaciodigital syndrome I | XLR, XLD |
OPA1 | 605290 | Optic atrophy 1;?MT DNA depletion syndrome 14 (encephalocardiomyopathic type);Glaucoma, normal tension, susceptibility to;Optic atrophy plus syndrome;Behr syndrome | AD, AR |
OPA3 | 606580 | 3-methylglutaconic aciduria, type III;Optic atrophy 3 with cataract | AR, AD |
OPHN1 | 300127 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | XLR |
OTC | 300461 | Ornithine transcarbamylase deficiency | XL |
PANK2 | 606157 | HARP syndrome;Neurodegeneration with brain iron accumulation 1 | AR |
PARS2 | 612036 | Developmental and epileptic encephalopathy 75 | AR |
PAX6 | 607108 | ?Coloboma, ocular;Aniridia;?Morning glory disc anomaly;Keratitis;Optic nerve hypoplasia;?Coloboma of optic nerve;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy;Foveal hypoplasia 1 | AD |
PC | 608786 | Pyruvate carboxylase deficiency | AR |
PCCA | 232000 | Propionicacidemia | AR |
PCCB | 232050 | Propionicacidemia | AR |
PDHA1 | 300502 | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | AR |
PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
PDP1 | 605993 | Pyruvate dehydrogenase phosphatase deficiency | AR |
PDSS1 | 607429 | Coenzyme Q10 deficiency, primary, 2 | AR |
PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
PDYN | 131340 | Spinocerebellar ataxia 23 | AD |
PET100 | 614770 | MT complex IV deficiency, nuclear type 12 | AR |
PEX10 | 602859 | Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B | AR |
PEX2 | 170993 | Peroxisome biogenesis disorder 5B;Peroxisome biogenesis disorder 5A (Zellweger) | AR |
PEX7 | 601757 | Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata, type 1 | AR |
PGAP1 | 611655 | Mental retardation, autosomal recessive 42 | AR |
PHYH | 602026 | Refsum disease | AR |
PIK3R5 | 611317 | Ataxia-oculomotor apraxia 3 | AR |
PLA2G6 | 603604 | Neurodegeneration with brain iron accumulation 2B;Parkinson disease 14, AR;Infantile neuroaxonal dystrophy 1 | AR |
PLK1 | 602098 | ||
PLP1 | 300401 | Pelizaeus-Merzbacher disease;Spastic paraplegia 2, XL | XLR |
PMPCA | 613036 | Spinocerebellar ataxia, autosomal recessive 2 | AR |
PNKD | 609023 | Paroxysmal nonkinesigenic dyskinesia 1 | AD |
PNKP | 605610 | Ataxia-oculomotor apraxia 4;Microcephaly, seizures, and developmental delay;?Charcot-Marie-Tooth disease, type 2B2 | AR |
PNPLA6 | 603197 | Spastic paraplegia 39, AR;Boucher-Neuhauser syndrome;Oliver-McFarlane syndrome;?Laurence-Moon syndrome | AR |
PNPT1 | 610316 | Deafness, autosomal recessive 70;Combined oxidative phosphorylation deficiency 13 | AR |
POLG | 174763 | Progressive external ophthalmoplegia, autosomal recessive 1;Progressive external ophthalmoplegia, AD 1;MT recessive ataxia syndrome (includes SANDO and SCAE);MT DNA depletion syndrome 4B (MNGIE type);MT DNA depletion syndrome 4A (Alpers type) | AR, AD |
POLG2 | 604983 | MT DNA depletion syndrome 16 (hepatic type);?MT DNA depletion syndrome 16B (neuroophthalmic type);Progressive external ophthalmoplegia with MT DNA deletions, AD 4 | AR, AD |
POLR3A | 614258 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Wiedemann-Rautenstrauch syndrome | AR |
POLR3B | 614366 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism;Charcot-Marie-Tooth disease, demyelinating, type 1I | AR, AD |
PRICKLE1 | 608500 | Epilepsy, progressive myoclonic 1B | AR |
PRKCG | 176980 | Spinocerebellar ataxia 14 | AD |
PRRT2 | 614386 | Episodic kinesigenic dyskinesia 1;Convulsions, familial infantile, with paroxysmal choreoathetosis;Seizures, benign familial infantile, 2 | AD |
PUM1 | 607204 | Spinocerebellar ataxia 47 | AD |
QARS1 | 603727 | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy | AR |
RAB3GAP2 | 609275 | Warburg micro syndrome 2;Martsolf syndrome | AR |
RAP1GDS1 | 179502 | ||
RARS1 | 107820 | Leukodystrophy, hypomyelinating, 9 | AR |
RARS2 | 611524 | Pontocerebellar hypoplasia, type 6 | AR |
REEP1 | 609139 | Spastic paraplegia 31, AD;?Neuronopathy, distal hereditary motor, type VB | AD |
REEP2 | 609347 | ?Spastic paraplegia 72, AR;?Spastic paraplegia 72, AD | AD, AR |
RMND1 | 614917 | Combined oxidative phosphorylation deficiency 11 | AR |
RNASEH1 | 604123 | Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 2 | AR |
RNASEH2B | 610326 | Aicardi-Goutieres syndrome 2 | AR |
RNF216 | 609948 | Cerebellar ataxia and hypogonadotropic hypogonadism | AR |
RPGRIP1L | 610937 | Joubert syndrome 7;?COACH syndrome 3;Meckel syndrome 5 | AR |
RRM2B | 604712 | MT DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy);Progressive external ophthalmoplegia with MT DNA deletions, AD 5;MT DNA depletion syndrome 8B (MNGIE type) | AR, AD |
RTN2 | 603183 | Spastic paraplegia 12, AD | AD |
RUBCN | 613516 | Spinocerebellar ataxia, autosomal recessive 15 | AR |
SACS | 604490 | Spastic ataxia, Charlevoix-Saguenay type | AR |
SAMD9L | 611170 | Ataxia-pancytopenia syndrome;Monosomy 7 myelodysplasia and leukemia syndrome 1 | AD |
SARS2 | 612804 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | AR |
SCN1A | 182389 | Epilepsy, generalized, with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Developmental and epileptic encephalopathy 6B, non-Dravet;Febrile seizures, familial, 3A;Dravet syndrome | AD |
SCN2A | 182390 | Developmental and epileptic encephalopathy 11;Seizures, benign familial infantile, 3;Episodic ataxia, type 9 | AD |
SCO1 | 603644 | MT complex IV deficiency, nuclear type 4 | AR |
SCO2 | 604272 | Myopia 6;MT complex IV deficiency, nuclear type 2 | AD, AR |
SCYL1 | 607982 | Spinocerebellar ataxia, autosomal recessive 21 | AR |
SDHA | 600857 | Neurodegeneration with ataxia and late-onset optic atrophy;Cardiomyopathy, dilated, 1GG;Leigh syndrome;MT respiratory chain complex II deficiency;Paragangliomas 5 | AD, AR, AR, MT |
SDHAF1 | 612848 | MT complex II deficiency, nuclear type 2;MT complex II deficiency | AR |
SELENOI | 607915 | Spastic paraplegia 81, AR | AR |
SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | AR |
SETX | 608465 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis 4, juvenile | AR, AD |
SFXN4 | 615564 | Combined oxidative phosphorylation deficiency 18 | AR |
SIL1 | 608005 | Marinesco-Sjogren syndrome | AR |
SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
SLC17A5 | 604322 | Sialic acid storage disorder, infantile;Salla disease | AR |
SLC19A2 | 603941 | Thiamine-responsive megaloblastic anemia syndrome | AR |
SLC19A3 | 606152 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | AR |
SLC1A3 | 600111 | Episodic ataxia, type 6 | AD |
SLC1A4 | 600229 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | AR |
SLC20A2 | 158378 | Basal ganglia calcification, idiopathic, 1 | AD |
SLC22A5 | 603377 | Carnitine deficiency, systemic primary | AR |
SLC25A19 | 606521 | Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type);Microcephaly, Amish type | AR |
SLC25A26 | 611037 | Combined oxidative phosphorylation deficiency 28 | AR |
SLC25A3 | 600370 | MT phosphate carrier deficiency | AR |
SLC25A38 | 610819 | Anemia, sideroblastic, 2, pyridoxine-refractory | AR |
SLC25A4 | 103220 | MT DNA depletion syndrome 12B (cardiomyopathic type) AR;MT DNA depletion syndrome 12A (cardiomyopathic type) AD;Progressive external ophthalmoplegia with MT DNA deletions, AD 2 | AR, AD |
SLC25A46 | 610826 | Neuropathy, hereditary motor and sensory, type VIB;Pontocerebellar hypoplasia, type 1E | AR |
SLC2A1 | 138140 | GLUT1 deficiency syndrome 2, childhood onset;GLUT1 deficiency syndrome 1, infantile onset, severe;Epilepsy, idiopathic generalized, susceptibility to, 12;Stomatin-deficient cryohydrocytosis with neurologic defects;Dystonia 9 | AD, AD, AR |
SLC33A1 | 603690 | Congenital cataracts, hearing loss, and neurodegeneration;Spastic paraplegia 42, AD | AR, AD |
SLC52A2 | 607882 | Brown-Vialetto-Van Laere syndrome 2 | AR |
SLC52A3 | 613350 | ?Fazio-Londe disease;Brown-Vialetto-Van Laere syndrome 1 | AR |
SLC9A6 | 300231 | Mental retardation, X-linked syndromic, Christianson type | XL |
SNX14 | 616105 | Spinocerebellar ataxia, autosomal recessive 20 | AR |
SPART | 607111 | Troyer syndrome | AR |
SPAST | 604277 | Spastic paraplegia 4, AD | AD |
SPG11 | 610844 | Spastic paraplegia 11, AR;Amyotrophic lateral sclerosis 5, juvenile;Charcot-Marie-Tooth disease, axonal, type 2X | AR |
SPG21 | 608181 | Mast syndrome | AR |
SPG7 | 602783 | Spastic paraplegia 7, AR | AD, AR |
SPR | 182125 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
SPTBN2 | 604985 | Spinocerebellar ataxia, autosomal recessive 14;Spinocerebellar ataxia 5 | AR, AD |
STUB1 | 607207 | ?Spinocerebellar ataxia 48;Spinocerebellar ataxia, autosomal recessive 16 | AD, AR |
SUCLA2 | 603921 | MT DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | AR |
SUCLG1 | 611224 | MT DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | AR |
SURF1 | 185620 | Charcot-Marie-Tooth disease, type 4K;MT complex IV deficiency, nuclear type 1 | AR |
SYNE1 | 608441 | Arthrogryposis multiplex congenita 3, myogenic type;Emery-Dreifuss muscular dystrophy 4, AD;Spinocerebellar ataxia, autosomal recessive 8 | AR, AD |
TACO1 | 612958 | MT complex IV deficiency, nuclear type 8 | AR |
TARS2 | 612805 | ?Combined oxidative phosphorylation deficiency 21 | AR |
TBC1D24 | 613577 | Deafness, AD 65;Deafness , autosomal recessive 86;Myoclonic epilepsy, infantile, familial;Developmental and epileptic encephalopathy 16;DOORS syndrome;Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp | AD, AR |
TCTN1 | 609863 | Joubert syndrome 13 | AR |
TCTN2 | 613846 | ?Meckel syndrome 8;Joubert syndrome 24 | AR |
TCTN3 | 613847 | Joubert syndrome 18;Orofaciodigital syndrome IV | AR |
TDP1 | 607198 | ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | AR |
TECPR2 | 615000 | Spastic paraplegia 49, AR | AR |
TFG | 602498 | Hereditary motor and sensory neuropathy, Okinawa type;?Spastic paraplegia 57, AR | AD, AR |
TGM6 | 613900 | Spinocerebellar ataxia 35 | AD |
TIMM8A | 300356 | Mohr-Tranebjaerg syndrome | XLR |
TK2 | 188250 | MT DNA depletion syndrome 2 (myopathic type);?Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 3 | AR |
TMEM126B | 615533 | MT complex I deficiency, nuclear type 29 | AR |
TMEM138 | 614459 | Joubert syndrome 16 | AR |
TMEM216 | 613277 | Meckel syndrome 2;Joubert syndrome 2 | AR |
TMEM231 | 614949 | Joubert syndrome 20;Meckel syndrome 11 | AR |
TMEM237 | 614423 | Joubert syndrome 14 | AR |
TMEM240 | 616101 | Spinocerebellar ataxia 21 | AD |
TMEM67 | 609884 | COACH syndrome 1;?RHYNS syndrome;Meckel syndrome 3;Joubert syndrome 6;Bardet-Biedl syndrome 14, modifier of;Nephronophthisis 11 | AR |
TMEM70 | 612418 | MT complex V (ATP synthase) deficiency, nuclear type 2 | AR |
TPK1 | 606370 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | AR |
TPP1 | 607998 | Ceroid lipofuscinosis, neuronal, 2;Spinocerebellar ataxia, autosomal recessive 7 | AR |
TRIM32 | 602290 | Muscular dystrophy, limb-girdle, autosomal recessive 8;?Bardet-Biedl syndrome 11 | AR |
TRIT1 | 617840 | Combined oxidative phosphorylation deficiency 35 | AR |
TRMT10C | 615423 | Combined oxidative phosphorylation deficiency 30 | AR |
TRNT1 | 612907 | Retinitis pigmentosa and erythrocytic microcytosis;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | AR |
TSEN2 | 608753 | Pontocerebellar hypoplasia type 2B | AR |
TSEN34 | 608754 | ?Pontocerebellar hypoplasia type 2C | AR |
TSEN54 | 608755 | Pontocerebellar hypoplasia type 2A;?Pontocerebellar hypoplasia type 5;Pontocerebellar hypoplasia type 4 | AR |
TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
TTBK2 | 611695 | Spinocerebellar ataxia 11 | AD |
TTC19 | 613814 | MT complex III deficiency, nuclear type 2 | AR |
TTC8 | 608132 | Bardet-Biedl syndrome 8;?Retinitis pigmentosa 51 | AR |
TTPA | 600415 | Ataxia with isolated vitamin E deficiency | AR |
TTR | 176300 | [Dystransthyretinemic hyperthyroxinemia];Carpal tunnel syndrome, familial;Amyloidosis, hereditary, transthyretin-related | AD |
TUBB4A | 602662 | Dystonia 4, torsion, AD;Leukodystrophy, hypomyelinating, 6 | AD |
TUFM | 602389 | Combined oxidative phosphorylation deficiency 4 | AR |
TWNK | 606075 | Progressive external ophthalmoplegia with MT DNA deletions, AD 3;Perrault syndrome 5;MT DNA depletion syndrome 7 (hepatocerebral type) | AD, AR |
TYMP | 131222 | MT DNA depletion syndrome 1 (MNGIE type) | AR |
UBA5 | 610552 | Developmental and epileptic encephalopathy 44;?Spinocerebellar ataxia, autosomal recessive 24 | AR |
UBAP1 | 609787 | Spastic paraplegia 80, AD | AD |
UBE3A | 601623 | Angelman syndrome | AD |
UBTF | 600673 | Neurodegeneration, childhood-onset, with brain atrophy | AD |
UCHL1 | 191342 | ?Parkinson disease 5, susceptibility to;Spastic paraplegia 79, AR | AD, AR |
UNC80 | 612636 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | AR |
UQCC2 | 614461 | MT complex III deficiency, nuclear type 7 | AR |
UQCRB | 191330 | MT complex III deficiency, nuclear type 3 | AR |
UQCRC2 | 191329 | MT complex III deficiency, nuclear type 5 | AR |
UQCRQ | 612080 | MT complex III deficiency, nuclear type 4 | AR |
USP8 | 603158 | Pituitary adenoma 4, ACTH-secreting, somatic | |
VAMP1 | 185880 | Myasthenic syndrome, congenital, 25;Spastic ataxia 1, AD | AR, AD |
VARS2 | 612802 | Combined oxidative phosphorylation deficiency 20 | AR |
VCP | 601023 | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1;Charcot-Marie-Tooth disease, type 2Y;Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | AD |
VLDLR | 192977 | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 | AR |
VPS37A | 609927 | Spastic paraplegia 53, AR | AR |
VRK1 | 602168 | Pontocerebellar hypoplasia type 1A | AR |
WASHC5 | 610657 | Spastic paraplegia 8, AD;Ritscher-Schinzel syndrome 1 | AD, AR |
WDR45 | 300526 | Neurodegeneration with brain iron accumulation 5 | XLD |
WDR45B | 609226 | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | AR |
WDR81 | 614218 | Hydrocephalus, congenital, 3, with brain anomalies;Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | AR |
WFS1 | 606201 | ?Cataract 41;Wolfram-like syndrome, AD;Wolfram syndrome 1;Diabetes mellitus, noninsulin-dependent, association with;Deafness, AD 6/14/38 | AD, AR |
WWOX | 605131 | Esophageal squamous cell carcinoma, somatic;Developmental and epileptic encephalopathy 28;Spinocerebellar ataxia, autosomal recessive 12 | AR |
YARS2 | 610957 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | AR |
ZFYVE26 | 612012 | Spastic paraplegia 15, AR | AR |
ZFYVE27 | 610243 | Spastic paraplegia 33, AD | AD |
ZNF423 | 604557 | Joubert syndrome 19;Nephronophthisis 14 | AD, AR |
Ataxia/Spastic paraplegia comprehensive Panel
No. of genes: | 492 |
TAT: | 25 days |
Coverage: | ≥99.0% ≥20x |
Details: | Next-generation sequencing with CNV included Repeat expansion analysis included mtDNA analysis included |
Overview of Genes and Associated Diseases (OMIM) Included in This Panel
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
ATXN1 | 601556 | Spinocerebellar ataxia 1 | AD |
ATXN2 | 601517 | Spinocerebellar ataxia 2;Parkinson disease, late-onset, susceptibility to;Amyotrophic lateral sclerosis, susceptibility to, 13 | AD, AD, MF |
ATXN3 | 607047 | Machado-Joseph disease | AD |
ATXN7 | 607640 | Spinocerebellar ataxia 7 | AD |
BEAN1 | 612051 | Spinocerebellar ataxia 31 | AD |
CACNA1A | 601011 | Episodic ataxia, type 2;Migraine, familial hemiplegic, 1;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia;Spinocerebellar ataxia 6;Developemental and epileptic encephalopathy 42 | AD |
PPP2R2B | 604325 | Spinocerebellar ataxia 12 | AD |
TBP | 600075 | Spinocerebellar ataxia 17;Parkinson disease, susceptibility to | AD, AD, MF |
ATXN10 | 611150 | Spinocerebellar ataxia 10 | AD |
ATN1 | 607462 | Dentatorubral-pallidoluysian atrophy;Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | AD |
NOP56 | 614154 | Spinocerebellar ataxia 36 | AD |
FXN | 606829 | Friedreich ataxia;Friedreich ataxia with retained reflexes | AR |
AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8;Leukoencephalopathy, progressive, with ovarian failure | AR |
ABCB7 | 300135 | Anemia, sideroblastic, with ataxia | XLR |
ABCD1 | 300371 | Adrenoleukodystrophy;Adrenomyeloneuropathy, adult | XLR |
ABHD12 | 613599 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | AR |
ABHD5 | 604780 | Chanarin-Dorfman syndrome | AR |
ACAD9 | 611103 | MT complex I deficiency, nuclear type 20 | AR |
ACADVL | 609575 | VLCAD deficiency | AR |
ACO2 | 100850 | ?Optic atrophy 9;Infantile cerebellar-retinal degeneration | AR |
ADAR | 146920 | Aicardi-Goutieres syndrome 6;Dyschromatosis symmetrica hereditaria | AR, AD |
ADPRS | 610624 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | AR |
AFG3L2 | 604581 | Spinocerebellar ataxia 28;Spastic ataxia 5, AR;Optic atrophy 12 | AD, AR |
AGK | 610345 | Sengers syndrome;Cataract 38, AR | AR |
AGTPBP1 | 606830 | Neurodegeneration, childhood-onset, with cerebellar atrophy | AR |
AHI1 | 608894 | Joubert syndrome 3 | AR |
AIFM1 | 300169 | Cowchock syndrome;Combined oxidative phosphorylation deficiency 6;Deafness, X-linked 5;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy | XLR |
AIMP1 | 603605 | Leukodystrophy, hypomyelinating, 3 | AR |
ALAS2 | 301300 | Protoporphyria, erythropoietic, X-linked;Anemia, sideroblastic, 1 | XL, XLR |
ALDH18A1 | 138250 | Cutis laxa, AD 3;Cutis laxa, autosomal recessive, type IIIA;Spastic paraplegia 9B, AR;Spastic paraplegia 9A, AD | AD, AR |
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
ALS2 | 606352 | Amyotrophic lateral sclerosis 2, juvenile;Spastic paralysis, infantile onset ascending;Primary lateral sclerosis, juvenile | AR |
AMACR | 604489 | Bile acid synthesis defect, congenital, 4;Alpha-methylacyl-CoA racemase deficiency | AR |
AMPD2 | 102771 | ?Spastic paraplegia 63;Pontocerebellar hypoplasia, type 9 | AR |
ANO10 | 613726 | Spinocerebellar ataxia, autosomal recessive 10 | AR |
AP1S2 | 300629 | Mental retardation, X-linked syndromic 5 | XLR |
AP4B1 | 607245 | Spastic paraplegia 47, AR | AR |
AP4E1 | 607244 | Stuttering, familial persistent, 1;Spastic paraplegia 51, AR | AD, AR |
AP4M1 | 602296 | Spastic paraplegia 50, AR | AR |
AP4S1 | 607243 | Spastic paraplegia 52, AR | AR |
AP5Z1 | 613653 | Spastic paraplegia 48, AR | AR |
APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
ARG1 | 608313 | Argininemia | AR |
ARL13B | 608922 | Joubert syndrome 8 | AR |
ARL6 | 608845 | Retinitis pigmentosa 55;Bardet-Biedl syndrome 1, modifier of;Bardet-Biedl syndrome 3 | AR, AR, DR |
ARL6IP1 | 607669 | ?Spastic paraplegia 61, AR | AR |
ARSA | 607574 | Metachromatic leukodystrophy | AR |
ATCAY | 608179 | Ataxia, cerebellar, Cayman type | AR |
ATL1 | 606439 | Spastic paraplegia 3A, AD;Neuropathy, hereditary sensory, type ID | AD |
ATM | 607585 | Breast cancer, susceptibility to;Ataxia-telangiectasia | AD, SM, AR |
ATN1 | 607462 | Dentatorubral-pallidoluysian atrophy;Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | AD |
ATP13A2 | 610513 | Spastic paraplegia 78, AR;Kufor-Rakeb syndrome | AR |
ATP1A2 | 182340 | Developmental and epileptic encephalopathy 98;Alternating hemiplegia of childhood 1;Migraine, familial basilar;Migraine, familial hemiplegic, 2;Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | AD, AR |
ATP1A3 | 182350 | Alternating hemiplegia of childhood 2;Dystonia-12;Developmental and epileptic encephalopathy 99;CAPOS syndrome | AD |
ATP2B3 | 300014 | ?Spinocerebellar ataxia, X-linked 1 | XLR |
ATP2B4 | 108732 | ||
ATP7B | 606882 | Wilson disease | AR |
ATP8A2 | 605870 | ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | AR |
ATRX | 300032 | Mental retardation-hypotonic facies syndrome, X-linked;Alpha-thalassemia/mental retardation syndrome;Alpha-thalassemia myelodysplasia syndrome, somatic | XLR, XLD |
ATXN1 | 601556 | Spinocerebellar ataxia 1 | AD |
ATXN10 | 611150 | Spinocerebellar ataxia 10 | AD |
ATXN2 | 601517 | Spinocerebellar ataxia 2;Parkinson disease, late-onset, susceptibility to;Amyotrophic lateral sclerosis, susceptibility to, 13 | AD, AD, MF |
ATXN3 | 607047 | Machado-Joseph disease | AD |
ATXN7 | 607640 | Spinocerebellar ataxia 7 | AD |
ATXN8OS | 603680 | Parkinson disease, susceptibility to;Spinocerebellar ataxia 8 | AD, MF, AD |
AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
B4GALNT1 | 601873 | Spastic paraplegia 26, AR | AR |
B9D1 | 614144 | ?Meckel syndrome 9;Joubert syndrome 27 | AR |
BBS1 | 209901 | Bardet-Biedl syndrome 1 | AR, DR |
BBS10 | 610148 | Bardet-Biedl syndrome 10 | AR |
BBS12 | 610683 | Bardet-Biedl syndrome 12 | AR |
BBS2 | 606151 | Bardet-Biedl syndrome 2;Retinitis pigmentosa 74 | AR |
BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
BBS5 | 603650 | Bardet-Biedl syndrome 5 | AR |
BBS7 | 607590 | Bardet-Biedl syndrome 7 | AR |
BBS9 | 607968 | Bardet-Biedl syndrome 9 | AR |
BCKDHA | 608348 | Maple syrup urine disease, type Ia | AR |
BCKDHB | 248611 | Maple syrup urine disease, type Ib | AR |
BCS1L | 603647 | GRACILE syndrome;Bjornstad syndrome;MT complex III deficiency, nuclear type 1 | AR |
BEAN1 | 612051 | Spinocerebellar ataxia 31 | AD |
BICD2 | 609797 | Spinal muscular atrophy, lower extremity-predominant, 2A, AD;Spinal muscular atrophy, lower extremity-predominant, 2B, AD | AD |
BLOC1S1 | 601444 | ||
BOLA3 | 613183 | Multiple MT dysfunctions syndrome 2 with hyperglycinemia | AR |
BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2;Encephalopathy, progressive, with or without lipodystrophy;Silver spastic paraplegia syndrome;Neuropathy, distal hereditary motor, type VC | AR, AD |
BTD | 609019 | Biotinidase deficiency | AR |
C19orf12 | 614297 | Neurodegeneration with brain iron accumulation 4;?Spastic paraplegia 43, AR | AD, AR, AR |
CA8 | 114815 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 | AR |
CACNA1A | 601011 | Episodic ataxia, type 2;Migraine, familial hemiplegic, 1;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia;Spinocerebellar ataxia 6;Developemental and epileptic encephalopathy 42 | AD |
CACNA1G | 604065 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits;Spinocerebellar ataxia 42 | AD |
CACNB4 | 601949 | Epilepsy, juvenile myoclonic, susceptibility to, 6;Epilepsy, idiopathic generalized, susceptibility to, 9;Episodic ataxia, type 5 | AD |
CAMTA1 | 611501 | Cerebellar ataxia, nonprogressive, with mental retardation | AD |
CAPN1 | 114220 | Spastic paraplegia 76, AR | AR |
CARS2 | 612800 | Combined oxidative phosphorylation deficiency 27 | AR |
CASK | 300172 | Mental retardation, with or without nystagmus;Mental retardation and microcephaly with pontine and cerebellar hypoplasia;FG syndrome 4 | XLD |
CC2D2A | 612013 | Meckel syndrome 6;Joubert syndrome 9;COACH syndrome 2 | AR |
CCDC88C | 611204 | Hydrocephalus, congenital, 1;?Spinocerebellar ataxia 40 | AR, AD |
CCT5 | 610150 | Neuropathy, hereditary sensory, with spastic paraplegia | AR |
CEP290 | 610142 | Leber congenital amaurosis 10;Meckel syndrome 4;?Bardet-Biedl syndrome 14;Senior-Loken syndrome 6;Joubert syndrome 5 | AR |
CEP41 | 610523 | Joubert syndrome 15 | AR |
CHMP1A | 164010 | Pontocerebellar hypoplasia, type 8 | AR |
CLCN2 | 600570 | Epilepsy, juvenile absence, susceptibility to, 2;Hyperaldosteronism, familial, type II;Epilepsy, juvenile myoclonic, susceptibility to, 8;Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with ataxia | AD, AR |
CLN5 | 608102 | Ceroid lipofuscinosis, neuronal, 5 | AR |
CLN6 | 606725 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset;Ceroid lipofuscinosis, neuronal, 6 | AR |
CLPB | 616254 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia | AR |
CLPP | 601119 | Perrault syndrome 3 | AR |
COA6 | 614772 | MT complex IV deficiency, nuclear type 13 | AR |
COA7 | 615623 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | AR |
COA8 | 616003 | MT complex IV deficiency, nuclear type 17 | AR |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6;Pontocerebellar hypoplasia, type 12 | AR |
COL4A1 | 120130 | ?Retinal arteries, tortuosity of;Hemorrhage, intracerebral, susceptibility to;Microangiopathy and leukoencephalopathy, pontine, AD;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with or without ocular anomalies | AD |
COL4A2 | 120090 | Hemorrhage, intracerebral, susceptibility to;Brain small vessel disease 2 | AD |
COQ2 | 609825 | Coenzyme Q10 deficiency, primary, 1;Multiple system atrophy, susceptibility to | AR, AD, AR |
COQ4 | 612898 | Coenzyme Q10 deficiency, primary, 7 | AR |
COQ6 | 614647 | Coenzyme Q10 deficiency, primary, 6 | AR |
COQ7 | 601683 | ?Coenzyme Q10 deficiency, primary, 8 | AR |
COQ8A | 606980 | Coenzyme Q10 deficiency, primary, 4 | AR |
COQ8B | 615567 | Nephrotic syndrome, type 9 | AR |
COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
COX10 | 602125 | MT complex IV deficiency, nuclear type 3 | AR |
COX15 | 603646 | MT complex IV deficiency, nuclear type 6 | AR |
COX20 | 614698 | MT complex IV deficiency, nuclear type 11 | AR |
COX6A1 | 602072 | Charcot-Marie-Tooth disease, recessive intermediate D | AR |
COX6B1 | 124089 | MT complex IV deficiency, nuclear type 7 | AR |
CP | 117700 | Cerebellar ataxia;Hemosiderosis, systemic, due to aceruloplasminemia;[Hypoceruloplasminemia, hereditary] | AR |
CPT1C | 608846 | ?Spastic paraplegia 73, AD | AD |
CSPP1 | 611654 | Joubert syndrome 21 | AR |
CSTB | 601145 | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | AR |
CWF19L1 | 616120 | Spinocerebellar ataxia, autosomal recessive 17 | AR |
CYC1 | 123980 | MT complex III deficiency, nuclear type 6 | AR |
CYP27A1 | 606530 | Cerebrotendinous xanthomatosis | AR |
CYP2U1 | 610670 | Spastic paraplegia 56, AR | AR |
CYP7B1 | 603711 | Spastic paraplegia 5A, AR;Bile acid synthesis defect, congenital, 3 | AR |
DAB1 | 603448 | Spinocerebellar ataxia 37 | AD |
DARS1 | 603084 | Hypomyelination with brainstem and spinal cord involvement and leg spasticity | AR |
DARS2 | 610956 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
DBT | 248610 | Maple syrup urine disease, type II | AR |
DDHD1 | 614603 | Spastic paraplegia 28, AR | AR |
DDHD2 | 615003 | Spastic paraplegia 54, AR | AR |
DGUOK | 601465 | Portal hypertension, noncirrhotic;Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 4;MT DNA depletion syndrome 3 (hepatocerebral type) | AR |
DHPS | 600944 | Neurodevelopmental disorder with seizures and speech and walking impairment | AR |
DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
DLD | 238331 | Dihydrolipoamide dehydrogenase deficiency | AR |
DNA2 | 601810 | ?Seckel syndrome 8;Progressive external ophthalmoplegia with MT DNA deletions, AD 6 | AR, AD |
DNAJC19 | 608977 | 3-methylglutaconic aciduria, type V | AR |
DNAJC5 | 611203 | Ceroid lipofuscinosis, neuronal, 4, Parry type | AD |
DNM1L | 603850 | Optic atrophy 5;Encephalopathy, lethal, due to defective MT peroxisomal fission 1 | AD, AD, AR |
DNMT1 | 126375 | Neuropathy, hereditary sensory, type IE;Cerebellar ataxia, deafness, and narcolepsy, AD | AD |
DOCK3 | 603123 | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | AR |
DSTYK | 612666 | Spastic paraplegia 23;Congenital anomalies of kidney and urinary tract 1 | AR, AD |
EARS2 | 612799 | Combined oxidative phosphorylation deficiency 12 | AR |
EBF3 | 607407 | Hypotonia, ataxia, and delayed development syndrome | AD |
ECHS1 | 602292 | MT short-chain enoyl-CoA hydratase 1 deficiency | AR |
EIF2B1 | 606686 | Leukoencephalopathy with vanishing white matter | AR |
EIF2B2 | 606454 | Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter | AR |
EIF2B3 | 606273 | Leukoencephalopathy with vanishing white matter | AR |
EIF2B4 | 606687 | Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter | AR |
EIF2B5 | 603945 | Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter | AR |
ELAC2 | 605367 | Prostate cancer, hereditary, 2, susceptibility to;Combined oxidative phosphorylation deficiency 17 | AR |
ELOVL4 | 605512 | Ichthyosis, spastic quadriplegia, and mental retardation;Stargardt disease 3;Spinocerebellar ataxia 34 | AR, AD |
ELOVL5 | 611805 | Spinocerebellar ataxia 38 | AD |
ENTPD1 | 601752 | Spastic paraplegia 64, AR | AR |
ERLIN1 | 611604 | Spastic paraplegia 62 | AR |
ERLIN2 | 611605 | Spastic paraplegia 18, AR | AR |
ETFA | 608053 | Glutaric acidemia IIA | AR |
ETFB | 130410 | Glutaric acidemia IIB | AR |
ETFDH | 231675 | Glutaric acidemia IIC | AR |
ETHE1 | 608451 | Ethylmalonic encephalopathy | AR |
EXOSC3 | 606489 | Pontocerebellar hypoplasia, type 1B | AR |
FA2H | 611026 | Spastic paraplegia 35, AR | AR |
FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14;Spastic paraplegia 77, AR | AR |
FASTKD2 | 612322 | Combined oxidative phosphorylation deficiency 44 | AR |
FAT2 | 604269 | Spinocerebellar ataxia 45 | AD |
FBXL4 | 605654 | MT DNA depletion syndrome 13 (encephalomyopathic type) | AR |
FDX2 | 614585 | MT myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | AR |
FDXR | 103270 | Auditory neuropathy and optic atrophy | AR |
FGF14 | 601515 | Spinocerebellar ataxia 27 | AD |
FH | 136850 | Fumarase deficiency;Leiomyomatosis and renal cell cancer | AR, AD |
FLAD1 | 610595 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | AR |
FLVCR1 | 609144 | Ataxia, posterior column, with retinitis pigmentosa | AR |
FOXRED1 | 613622 | MT complex I deficiency, nuclear type 19 | AR |
FTL | 134790 | Neurodegeneration with brain iron accumulation 3;Hyperferritinemia-cataract syndrome;L-ferritin deficiency, dominant and recessive | AD, AD, AR |
FXN | 606829 | Friedreich ataxia;Friedreich ataxia with retained reflexes | AR |
GAD1 | 605363 | ?Cerebral palsy, spastic quadriplegic, 1;Developmental and epileptic encephalopathy 89 | AR |
GALC | 606890 | Krabbe disease | AR |
GARS1 | 600287 | Spinal muscular atrophy, infantile, James type;Charcot-Marie-Tooth disease, type 2D;Neuronopathy, distal hereditary motor, type VA | AD |
GBA | 606463 | Lewy body dementia, susceptibility to;Gaucher disease, type IIIC;Parkinson disease, late-onset, susceptibility to;Gaucher disease, type II;Gaucher disease, type III;Gaucher disease, perinatal lethal;Gaucher disease, type I | AD, AR, AD, MF |
GBA2 | 609471 | Spastic paraplegia 46, AR | AR |
GCDH | 608801 | Glutaricaciduria, type I | AR |
GCH1 | 600225 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia;Hyperphenylalaninemia, BH4-deficient, B | AD, AR, AR |
GFAP | 137780 | Alexander disease | AD |
GFER | 600924 | Myopathy, MT progressive, with congenital cataract and developmental delay | AR |
GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
GFM2 | 606544 | Combined oxidative phosphorylation deficiency 39 | AR |
GJB1 | 304040 | Charcot-Marie-Tooth neuropathy, XLD, 1 | XLD |
GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2;Spastic paraplegia 44, AR;Lymphatic malformation 3 | AR, AD |
GLRX5 | 609588 | Spasticity, childhood-onset, with hyperglycinemia;Anemia, sideroblastic, 3, pyridoxine-refractory | AR |
GOSR2 | 604027 | Epilepsy, progressive myoclonic 6 | AR |
GRID2 | 602368 | Spinocerebellar ataxia, autosomal recessive 18 | AR |
GRM1 | 604473 | Spinocerebellar ataxia 44;Spinocerebellar ataxia, autosomal recessive 13 | AD, AR |
GSS | 601002 | Glutathione synthetase deficiency;Hemolytic anemia due to glutathione synthetase deficiency | AR |
GTPBP3 | 608536 | Combined oxidative phosphorylation deficiency 23 | AR |
HACE1 | 610876 | Spastic paraplegia and psychomotor retardation with or without seizures | AR |
HARS2 | 600783 | Perrault syndrome 2 | AR |
HEPACAM | 611642 | Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation;Megalencephalic leukoencephalopathy with subcortical cysts 2A | AD, AR |
HEXA | 606869 | Tay-Sachs disease;[Hex A pseudodeficiency];GM2-gangliosidosis, several forms | AR |
HEXB | 606873 | Sandhoff disease, infantile, juvenile, and adult forms | AR |
HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
HSPD1 | 118190 | Leukodystrophy, hypomyelinating, 4;Spastic paraplegia 13, AD | AR, AD |
HTRA2 | 606441 | Parkinson disease 13;3-methylglutaconic aciduria, type VIII | AR |
IARS2 | 612801 | ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | AR |
IBA57 | 615316 | ?Spastic paraplegia 74, AR;Multiple MT dysfunctions syndrome 3 | AR |
INPP5E | 613037 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis;Joubert syndrome 1 | AR |
IRF2BPL | 611720 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | AD |
ISCA2 | 615317 | Multiple MT dysfunctions syndrome 4 | AR |
ISCU | 611911 | Myopathy with lactic acidosis, hereditary | AR |
ITM2B | 603904 | Dementia, familial British;?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities;Dementia, familial Danish | AD |
ITPR1 | 147265 | Spinocerebellar ataxia 15;Spinocerebellar ataxia 29, congenital nonprogressive;Gillespie syndrome | AD, AD, AR |
KCNA1 | 176260 | Episodic ataxia/myokymia syndrome | AD |
KCNA2 | 176262 | Developmental and epileptic encephalopathy 32 | AD |
KCNC3 | 176264 | Spinocerebellar ataxia 13 | AD |
KCND3 | 605411 | Brugada syndrome 9;Spinocerebellar ataxia 19 | AD |
KCNJ10 | 602208 | Enlarged vestibular aqueduct, digenic;SESAME syndrome | AR |
KDM5C | 314690 | Mental retardation, X-linked, syndromic, Claes-Jensen type | XLR |
KIDINS220 | 615759 | Ventriculomegaly and arthrogryposis;Spastic paraplegia, intellectual disability, nystagmus, and obesity | AR, AD |
KIF1A | 601255 | NESCAV syndrome;Spastic paraplegia 30, AR;Neuropathy, hereditary sensory, type IIC;Spastic paraplegia 30, AD | AD, AD, AR, AR |
KIF1C | 603060 | Spastic ataxia 2, AR | AR |
KIF5A | 602821 | Amyotrophic lateral sclerosis, susceptibility to, 25;Myoclonus, intractable, neonatal;Spastic paraplegia 10, AD | AD |
KIF7 | 611254 | Joubert syndrome 12;?Hydrolethalus syndrome 2;?Al-Gazali-Bakalinova syndrome;Acrocallosal syndrome | AR |
L1CAM | 308840 | Hydrocephalus with congenital idiopathic intestinal pseudoobstruction;CRASH syndrome;Corpus callosum, partial agenesis of;Hydrocephalus with Hirschsprung disease;MASA syndrome;Hydrocephalus due to aqueductal stenosis | XLR |
LAMA1 | 150320 | Poretti-Boltshauser syndrome | AR |
LAMP2 | 309060 | Danon disease | XLD |
LARS2 | 604544 | ?Hydrops, lactic acidosis, and sideroblastic anemia;Perrault syndrome 4 | AR |
LIAS | 607031 | Hyperglycinemia, lactic acidosis, and seizures | AR |
LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
LMNB1 | 150340 | Leukodystrophy, adult-onset, AD;Microcephaly 26, primary, AD | AD |
LRPPRC | 607544 | MT complex IV deficiency, nuclear type 5, (French-Canadian) | AR |
LYRM7 | 615831 | MT complex III deficiency, nuclear type 8 | AR |
LYST | 606897 | Chediak-Higashi syndrome | AR |
MAG | 159460 | Spastic paraplegia 75, AR | AR |
MARS1 | 156560 | Charcot-Marie-Tooth disease, axonal, type 2U;?Trichothiodystrophy 9, nonphotosensitive;Interstitial lung and liver disease | AD, AR |
MARS2 | 609728 | Spastic ataxia 3, AR;?Combined oxidative phosphorylation deficiency 25 | AR |
MECR | 608205 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | AR |
MFF | 614785 | Encephalopathy due to defective MT and peroxisomal fission 2 | AR |
MFN2 | 608507 | Hereditary motor and sensory neuropathy VIA;Charcot-Marie-Tooth disease, axonal, type 2A2B;Charcot-Marie-Tooth disease, axonal, type 2A2A | AD, AR |
MGME1 | 615076 | MT DNA depletion syndrome 11 | AR |
MICU1 | 605084 | Myopathy with extrapyramidal signs | AR |
MKKS | 604896 | McKusick-Kaufman syndrome;Bardet-Biedl syndrome 6 | AR |
MKS1 | 609883 | Bardet-Biedl syndrome 13;Joubert syndrome 28;Meckel syndrome 1 | AR |
MLC1 | 605908 | Megalencephalic leukoencephalopathy with subcortical cysts | AR |
MPC1 | 614738 | MT pyruvate carrier deficiency | AR |
MPV17 | 137960 | Charcot-Marie-Tooth disease, axonal, type 2EE;MT DNA depletion syndrome 6 (hepatocerebral type) | AR |
MRE11 | 600814 | Ataxia-telangiectasia-like disorder 1 | AR |
MRPL3 | 607118 | Combined oxidative phosphorylation deficiency 9 | AR |
MRPL44 | 611849 | ?Combined oxidative phosphorylation deficiency 16 | AR |
MRPS16 | 609204 | Combined oxidative phosphorylation deficiency 2 | AR |
MRPS22 | 605810 | Ovarian dysgenesis 7;Combined oxidative phosphorylation deficiency 5 | AR |
MSTO1 | 617619 | Myopathy, MT, and ataxia | AD, AR |
MT-ATP6 | |||
MT-ATP8 | |||
MT-CO1 | |||
MT-CO2 | |||
MT-CO3 | |||
MT-CYB | |||
MT-ND1 | |||
MT-ND2 | |||
MT-ND3 | |||
MT-ND4 | |||
MT-ND4L | |||
MT-ND5 | |||
MT-ND6 | |||
MT-RNR1 | |||
MT-RNR2 | |||
MT-TA | |||
MT-TC | |||
MT-TD | |||
MT-TE | |||
MT-TF | |||
MT-TG | |||
MT-TH | |||
MT-TI | |||
MT-TK | |||
MT-TL1 | |||
MT-TL2 | |||
MT-TM | |||
MT-TN | |||
MT-TP | |||
MT-TQ | |||
MT-TR | |||
MT-TS1 | |||
MT-TS2 | |||
MT-TT | |||
MT-TV | |||
MT-TW | |||
MT-TY | |||
MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15;MT complex I deficiency, nuclear type 27 | AR |
MTO1 | 614667 | Combined oxidative phosphorylation deficiency 10 | AR |
MTPAP | 613669 | ?Spastic ataxia 4, AR | AR |
MTRFR | 613541 | Spastic paraplegia 55, AR;Combined oxidative phosphorylation deficiency 7 | AR |
MTTP | 157147 | Metabolic syndrome, protection against;Abetalipoproteinemia | AD, AR |
NARS2 | 612803 | ?Deafness, autosomal recessive 94;Combined oxidative phosphorylation deficiency 24 | AR |
NDUFA1 | 300078 | MT complex I deficiency, nuclear type 12 | XLR |
NDUFA10 | 603835 | MT complex I deficiency, nuclear type 22 | AR |
NDUFA11 | 612638 | MT complex I deficiency, nuclear type 14 | AR |
NDUFA12 | 614530 | ?MT complex I deficiency, nuclear type 23 | AR |
NDUFA2 | 602137 | MT complex I deficiency, nuclear type 13 | AR |
NDUFA9 | 603834 | MT complex I deficiency, nuclear type 26 | AR |
NDUFAF1 | 606934 | MT complex I deficiency, nuclear type 11 | AR |
NDUFAF2 | 609653 | MT complex I deficiency, nuclear type 10 | AR |
NDUFAF3 | 612911 | MT complex I deficiency, nuclear type 18 | AR |
NDUFAF4 | 611776 | MT complex I deficiency, nuclear type 15 | AR |
NDUFAF5 | 612360 | MT complex I deficiency, nuclear type 16 | AR |
NDUFAF6 | 612392 | MT complex I deficiency, nuclear type 17;Fanconi renotubular syndrome 5 | AR |
NDUFB3 | 603839 | MT complex I deficiency, nuclear type 25 | AR |
NDUFS1 | 157655 | MT complex I deficiency, nuclear type 5 | AR |
NDUFS2 | 602985 | MT complex I deficiency, nuclear type 6 | AR |
NDUFS3 | 603846 | MT complex I deficiency, nuclear type 8 | AR |
NDUFS4 | 602694 | MT complex I deficiency, nuclear type 1 | AR |
NDUFS6 | 603848 | MT complex I deficiency, nuclear type 9 | AR |
NDUFS7 | 601825 | MT complex I deficiency, nuclear type 3 | AR |
NDUFS8 | 602141 | MT complex I deficiency, nuclear type 2 | AR |
NDUFV1 | 161015 | MT complex I deficiency, nuclear type 4 | AR |
NDUFV2 | 600532 | MT complex I deficiency, nuclear type 7 | AR |
NFU1 | 608100 | Multiple MT dysfunctions syndrome 1 | AR |
NIPA1 | 608145 | Spastic paraplegia 6, AD | AD |
NKX6-2 | 605955 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | AR |
NOP56 | 614154 | Spinocerebellar ataxia 36 | AD |
NPC1 | 607623 | Niemann-Pick disease, type C1;Niemann-Pick disease, type D | AR |
NPC2 | 601015 | Niemann-pick disease, type C2 | AR |
NPHP1 | 607100 | Joubert syndrome 4;Nephronophthisis 1, juvenile;Senior-Loken syndrome-1 | AR |
NR2F1 | 132890 | Bosch-Boonstra-Schaaf optic atrophy syndrome | AD |
NT5C2 | 600417 | Spastic paraplegia 45, AR | AR |
NUBPL | 613621 | MT complex I deficiency, nuclear type 21 | AR |
OFD1 | 300170 | Joubert syndrome 10;Simpson-Golabi-Behmel syndrome, type 2;?Retinitis pigmentosa 23;Orofaciodigital syndrome I | XLR, XLD |
OPA1 | 605290 | Optic atrophy 1;?MT DNA depletion syndrome 14 (encephalocardiomyopathic type);Glaucoma, normal tension, susceptibility to;Optic atrophy plus syndrome;Behr syndrome | AD, AR |
OPA3 | 606580 | 3-methylglutaconic aciduria, type III;Optic atrophy 3 with cataract | AR, AD |
OPHN1 | 300127 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | XLR |
OTC | 300461 | Ornithine transcarbamylase deficiency | XL |
PANK2 | 606157 | HARP syndrome;Neurodegeneration with brain iron accumulation 1 | AR |
PARS2 | 612036 | Developmental and epileptic encephalopathy 75 | AR |
PAX6 | 607108 | ?Coloboma, ocular;Aniridia;?Morning glory disc anomaly;Keratitis;Optic nerve hypoplasia;?Coloboma of optic nerve;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy;Foveal hypoplasia 1 | AD |
PC | 608786 | Pyruvate carboxylase deficiency | AR |
PCCA | 232000 | Propionicacidemia | AR |
PCCB | 232050 | Propionicacidemia | AR |
PDHA1 | 300502 | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | AR |
PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
PDP1 | 605993 | Pyruvate dehydrogenase phosphatase deficiency | AR |
PDSS1 | 607429 | Coenzyme Q10 deficiency, primary, 2 | AR |
PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
PDYN | 131340 | Spinocerebellar ataxia 23 | AD |
PET100 | 614770 | MT complex IV deficiency, nuclear type 12 | AR |
PEX10 | 602859 | Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B | AR |
PEX2 | 170993 | Peroxisome biogenesis disorder 5B;Peroxisome biogenesis disorder 5A (Zellweger) | AR |
PEX7 | 601757 | Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata, type 1 | AR |
PGAP1 | 611655 | Mental retardation, autosomal recessive 42 | AR |
PHYH | 602026 | Refsum disease | AR |
PIK3R5 | 611317 | Ataxia-oculomotor apraxia 3 | AR |
PLA2G6 | 603604 | Neurodegeneration with brain iron accumulation 2B;Parkinson disease 14, AR;Infantile neuroaxonal dystrophy 1 | AR |
PLK1 | 602098 | ||
PLP1 | 300401 | Pelizaeus-Merzbacher disease;Spastic paraplegia 2, XL | XLR |
PMPCA | 613036 | Spinocerebellar ataxia, autosomal recessive 2 | AR |
PNKD | 609023 | Paroxysmal nonkinesigenic dyskinesia 1 | AD |
PNKP | 605610 | Ataxia-oculomotor apraxia 4;Microcephaly, seizures, and developmental delay;?Charcot-Marie-Tooth disease, type 2B2 | AR |
PNPLA6 | 603197 | Spastic paraplegia 39, AR;Boucher-Neuhauser syndrome;Oliver-McFarlane syndrome;?Laurence-Moon syndrome | AR |
PNPT1 | 610316 | Deafness, autosomal recessive 70;Combined oxidative phosphorylation deficiency 13 | AR |
POLG | 174763 | Progressive external ophthalmoplegia, autosomal recessive 1;Progressive external ophthalmoplegia, AD 1;MT recessive ataxia syndrome (includes SANDO and SCAE);MT DNA depletion syndrome 4B (MNGIE type);MT DNA depletion syndrome 4A (Alpers type) | AR, AD |
POLG2 | 604983 | MT DNA depletion syndrome 16 (hepatic type);?MT DNA depletion syndrome 16B (neuroophthalmic type);Progressive external ophthalmoplegia with MT DNA deletions, AD 4 | AR, AD |
POLR3A | 614258 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Wiedemann-Rautenstrauch syndrome | AR |
POLR3B | 614366 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism;Charcot-Marie-Tooth disease, demyelinating, type 1I | AR, AD |
PPP2R2B | 604325 | Spinocerebellar ataxia 12 | AD |
PRICKLE1 | 608500 | Epilepsy, progressive myoclonic 1B | AR |
PRKCG | 176980 | Spinocerebellar ataxia 14 | AD |
PRRT2 | 614386 | Episodic kinesigenic dyskinesia 1;Convulsions, familial infantile, with paroxysmal choreoathetosis;Seizures, benign familial infantile, 2 | AD |
PUM1 | 607204 | Spinocerebellar ataxia 47 | AD |
QARS1 | 603727 | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy | AR |
RAB3GAP2 | 609275 | Warburg micro syndrome 2;Martsolf syndrome | AR |
RAP1GDS1 | 179502 | ||
RARS1 | 107820 | Leukodystrophy, hypomyelinating, 9 | AR |
RARS2 | 611524 | Pontocerebellar hypoplasia, type 6 | AR |
REEP1 | 609139 | Spastic paraplegia 31, AD;?Neuronopathy, distal hereditary motor, type VB | AD |
REEP2 | 609347 | ?Spastic paraplegia 72, AR;?Spastic paraplegia 72, AD | AD, AR |
RMND1 | 614917 | Combined oxidative phosphorylation deficiency 11 | AR |
RNASEH1 | 604123 | Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 2 | AR |
RNASEH2B | 610326 | Aicardi-Goutieres syndrome 2 | AR |
RNF216 | 609948 | Cerebellar ataxia and hypogonadotropic hypogonadism | AR |
RPGRIP1L | 610937 | Joubert syndrome 7;?COACH syndrome 3;Meckel syndrome 5 | AR |
RRM2B | 604712 | MT DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy);Progressive external ophthalmoplegia with MT DNA deletions, AD 5;MT DNA depletion syndrome 8B (MNGIE type) | AR, AD |
RTN2 | 603183 | Spastic paraplegia 12, AD | AD |
RUBCN | 613516 | Spinocerebellar ataxia, autosomal recessive 15 | AR |
SACS | 604490 | Spastic ataxia, Charlevoix-Saguenay type | AR |
SAMD9L | 611170 | Ataxia-pancytopenia syndrome;Monosomy 7 myelodysplasia and leukemia syndrome 1 | AD |
SARS2 | 612804 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | AR |
SCN1A | 182389 | Epilepsy, generalized, with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Developmental and epileptic encephalopathy 6B, non-Dravet;Febrile seizures, familial, 3A;Dravet syndrome | AD |
SCN2A | 182390 | Developmental and epileptic encephalopathy 11;Seizures, benign familial infantile, 3;Episodic ataxia, type 9 | AD |
SCO1 | 603644 | MT complex IV deficiency, nuclear type 4 | AR |
SCO2 | 604272 | Myopia 6;MT complex IV deficiency, nuclear type 2 | AD, AR |
SCYL1 | 607982 | Spinocerebellar ataxia, autosomal recessive 21 | AR |
SDHA | 600857 | Neurodegeneration with ataxia and late-onset optic atrophy;Cardiomyopathy, dilated, 1GG;Leigh syndrome;MT respiratory chain complex II deficiency;Paragangliomas 5 | AD, AR, AR, MT |
SDHAF1 | 612848 | MT complex II deficiency, nuclear type 2;MT complex II deficiency | AR |
SELENOI | 607915 | Spastic paraplegia 81, AR | AR |
SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | AR |
SETX | 608465 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis 4, juvenile | AR, AD |
SFXN4 | 615564 | Combined oxidative phosphorylation deficiency 18 | AR |
SIL1 | 608005 | Marinesco-Sjogren syndrome | AR |
SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
SLC17A5 | 604322 | Sialic acid storage disorder, infantile;Salla disease | AR |
SLC19A2 | 603941 | Thiamine-responsive megaloblastic anemia syndrome | AR |
SLC19A3 | 606152 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | AR |
SLC1A3 | 600111 | Episodic ataxia, type 6 | AD |
SLC1A4 | 600229 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | AR |
SLC20A2 | 158378 | Basal ganglia calcification, idiopathic, 1 | AD |
SLC22A5 | 603377 | Carnitine deficiency, systemic primary | AR |
SLC25A19 | 606521 | Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type);Microcephaly, Amish type | AR |
SLC25A26 | 611037 | Combined oxidative phosphorylation deficiency 28 | AR |
SLC25A3 | 600370 | MT phosphate carrier deficiency | AR |
SLC25A38 | 610819 | Anemia, sideroblastic, 2, pyridoxine-refractory | AR |
SLC25A4 | 103220 | MT DNA depletion syndrome 12B (cardiomyopathic type) AR;MT DNA depletion syndrome 12A (cardiomyopathic type) AD;Progressive external ophthalmoplegia with MT DNA deletions, AD 2 | AR, AD |
SLC25A46 | 610826 | Neuropathy, hereditary motor and sensory, type VIB;Pontocerebellar hypoplasia, type 1E | AR |
SLC2A1 | 138140 | GLUT1 deficiency syndrome 2, childhood onset;GLUT1 deficiency syndrome 1, infantile onset, severe;Epilepsy, idiopathic generalized, susceptibility to, 12;Stomatin-deficient cryohydrocytosis with neurologic defects;Dystonia 9 | AD, AD, AR |
SLC33A1 | 603690 | Congenital cataracts, hearing loss, and neurodegeneration;Spastic paraplegia 42, AD | AR, AD |
SLC52A2 | 607882 | Brown-Vialetto-Van Laere syndrome 2 | AR |
SLC52A3 | 613350 | ?Fazio-Londe disease;Brown-Vialetto-Van Laere syndrome 1 | AR |
SLC9A6 | 300231 | Mental retardation, X-linked syndromic, Christianson type | XL |
SNX14 | 616105 | Spinocerebellar ataxia, autosomal recessive 20 | AR |
SPART | 607111 | Troyer syndrome | AR |
SPAST | 604277 | Spastic paraplegia 4, AD | AD |
SPG11 | 610844 | Spastic paraplegia 11, AR;Amyotrophic lateral sclerosis 5, juvenile;Charcot-Marie-Tooth disease, axonal, type 2X | AR |
SPG21 | 608181 | Mast syndrome | AR |
SPG7 | 602783 | Spastic paraplegia 7, AR | AD, AR |
SPR | 182125 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
SPTBN2 | 604985 | Spinocerebellar ataxia, autosomal recessive 14;Spinocerebellar ataxia 5 | AR, AD |
STUB1 | 607207 | ?Spinocerebellar ataxia 48;Spinocerebellar ataxia, autosomal recessive 16 | AD, AR |
SUCLA2 | 603921 | MT DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | AR |
SUCLG1 | 611224 | MT DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | AR |
SURF1 | 185620 | Charcot-Marie-Tooth disease, type 4K;MT complex IV deficiency, nuclear type 1 | AR |
SYNE1 | 608441 | Arthrogryposis multiplex congenita 3, myogenic type;Emery-Dreifuss muscular dystrophy 4, AD;Spinocerebellar ataxia, autosomal recessive 8 | AR, AD |
TACO1 | 612958 | MT complex IV deficiency, nuclear type 8 | AR |
TARS2 | 612805 | ?Combined oxidative phosphorylation deficiency 21 | AR |
TBC1D24 | 613577 | Deafness, AD 65;Deafness , autosomal recessive 86;Myoclonic epilepsy, infantile, familial;Developmental and epileptic encephalopathy 16;DOORS syndrome;Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp | AD, AR |
TBP | 600075 | Spinocerebellar ataxia 17;Parkinson disease, susceptibility to | AD, AD, MF |
TCTN1 | 609863 | Joubert syndrome 13 | AR |
TCTN2 | 613846 | ?Meckel syndrome 8;Joubert syndrome 24 | AR |
TCTN3 | 613847 | Joubert syndrome 18;Orofaciodigital syndrome IV | AR |
TDP1 | 607198 | ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | AR |
TECPR2 | 615000 | Spastic paraplegia 49, AR | AR |
TFG | 602498 | Hereditary motor and sensory neuropathy, Okinawa type;?Spastic paraplegia 57, AR | AD, AR |
TGM6 | 613900 | Spinocerebellar ataxia 35 | AD |
TIMM8A | 300356 | Mohr-Tranebjaerg syndrome | XLR |
TK2 | 188250 | MT DNA depletion syndrome 2 (myopathic type);?Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 3 | AR |
TMEM126B | 615533 | MT complex I deficiency, nuclear type 29 | AR |
TMEM138 | 614459 | Joubert syndrome 16 | AR |
TMEM216 | 613277 | Meckel syndrome 2;Joubert syndrome 2 | AR |
TMEM231 | 614949 | Joubert syndrome 20;Meckel syndrome 11 | AR |
TMEM237 | 614423 | Joubert syndrome 14 | AR |
TMEM240 | 616101 | Spinocerebellar ataxia 21 | AD |
TMEM67 | 609884 | COACH syndrome 1;?RHYNS syndrome;Meckel syndrome 3;Joubert syndrome 6;Bardet-Biedl syndrome 14, modifier of;Nephronophthisis 11 | AR |
TMEM70 | 612418 | MT complex V (ATP synthase) deficiency, nuclear type 2 | AR |
TPK1 | 606370 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | AR |
TPP1 | 607998 | Ceroid lipofuscinosis, neuronal, 2;Spinocerebellar ataxia, autosomal recessive 7 | AR |
TRIM32 | 602290 | Muscular dystrophy, limb-girdle, autosomal recessive 8;?Bardet-Biedl syndrome 11 | AR |
TRIT1 | 617840 | Combined oxidative phosphorylation deficiency 35 | AR |
TRMT10C | 615423 | Combined oxidative phosphorylation deficiency 30 | AR |
TRNT1 | 612907 | Retinitis pigmentosa and erythrocytic microcytosis;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | AR |
TSEN2 | 608753 | Pontocerebellar hypoplasia type 2B | AR |
TSEN34 | 608754 | ?Pontocerebellar hypoplasia type 2C | AR |
TSEN54 | 608755 | Pontocerebellar hypoplasia type 2A;?Pontocerebellar hypoplasia type 5;Pontocerebellar hypoplasia type 4 | AR |
TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
TTBK2 | 611695 | Spinocerebellar ataxia 11 | AD |
TTC19 | 613814 | MT complex III deficiency, nuclear type 2 | AR |
TTC8 | 608132 | Bardet-Biedl syndrome 8;?Retinitis pigmentosa 51 | AR |
TTPA | 600415 | Ataxia with isolated vitamin E deficiency | AR |
TTR | 176300 | [Dystransthyretinemic hyperthyroxinemia];Carpal tunnel syndrome, familial;Amyloidosis, hereditary, transthyretin-related | AD |
TUBB4A | 602662 | Dystonia 4, torsion, AD;Leukodystrophy, hypomyelinating, 6 | AD |
TUFM | 602389 | Combined oxidative phosphorylation deficiency 4 | AR |
TWNK | 606075 | Progressive external ophthalmoplegia with MT DNA deletions, AD 3;Perrault syndrome 5;MT DNA depletion syndrome 7 (hepatocerebral type) | AD, AR |
TYMP | 131222 | MT DNA depletion syndrome 1 (MNGIE type) | AR |
UBA5 | 610552 | Developmental and epileptic encephalopathy 44;?Spinocerebellar ataxia, autosomal recessive 24 | AR |
UBAP1 | 609787 | Spastic paraplegia 80, AD | AD |
UBE3A | 601623 | Angelman syndrome | AD |
UBTF | 600673 | Neurodegeneration, childhood-onset, with brain atrophy | AD |
UCHL1 | 191342 | ?Parkinson disease 5, susceptibility to;Spastic paraplegia 79, AR | AD, AR |
UNC80 | 612636 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | AR |
UQCC2 | 614461 | MT complex III deficiency, nuclear type 7 | AR |
UQCRB | 191330 | MT complex III deficiency, nuclear type 3 | AR |
UQCRC2 | 191329 | MT complex III deficiency, nuclear type 5 | AR |
UQCRQ | 612080 | MT complex III deficiency, nuclear type 4 | AR |
USP8 | 603158 | Pituitary adenoma 4, ACTH-secreting, somatic | |
VAMP1 | 185880 | Myasthenic syndrome, congenital, 25;Spastic ataxia 1, AD | AR, AD |
VARS2 | 612802 | Combined oxidative phosphorylation deficiency 20 | AR |
VCP | 601023 | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1;Charcot-Marie-Tooth disease, type 2Y;Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | AD |
VLDLR | 192977 | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 | AR |
VPS37A | 609927 | Spastic paraplegia 53, AR | AR |
VRK1 | 602168 | Pontocerebellar hypoplasia type 1A | AR |
WASHC5 | 610657 | Spastic paraplegia 8, AD;Ritscher-Schinzel syndrome 1 | AD, AR |
WDR45 | 300526 | Neurodegeneration with brain iron accumulation 5 | XLD |
WDR45B | 609226 | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | AR |
WDR81 | 614218 | Hydrocephalus, congenital, 3, with brain anomalies;Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | AR |
WFS1 | 606201 | ?Cataract 41;Wolfram-like syndrome, AD;Wolfram syndrome 1;Diabetes mellitus, noninsulin-dependent, association with;Deafness, AD 6/14/38 | AD, AR |
WWOX | 605131 | Esophageal squamous cell carcinoma, somatic;Developmental and epileptic encephalopathy 28;Spinocerebellar ataxia, autosomal recessive 12 | AR |
YARS2 | 610957 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | AR |
ZFYVE26 | 612012 | Spastic paraplegia 15, AR | AR |
ZFYVE27 | 610243 | Spastic paraplegia 33, AD | AD |
ZNF423 | 604557 | Joubert syndrome 19;Nephronophthisis 14 | AD, AR |
Ataxia Repeat Expansion Panel
No. of genes: | 13 |
TAT: | 25 days |
Coverage: | 100% |
Details: | Includes repeat expansion analysis for ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PP2R2B, TBP |
Overview of Genes and Associated Diseases (OMIM) Included in This Panel
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
ATN1 | 607462 | Dentatorubral-pallidoluysian atrophy;Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | AD |
ATXN1 | 601556 | Spinocerebellar ataxia 1 | AD |
ATXN10 | 611150 | Spinocerebellar ataxia 10 | AD |
ATXN2 | 601517 | Spinocerebellar ataxia 2;Parkinson disease, late-onset, susceptibility to;Amyotrophic lateral sclerosis, susceptibility to, 13 | AD, AD, MF |
ATXN3 | 607047 | Machado-Joseph disease | AD |
ATXN7 | 607640 | Spinocerebellar ataxia 7 | AD |
ATXN8OS | 603680 | Parkinson disease, susceptibility to;Spinocerebellar ataxia 8 | AD, MF, AD |
BEAN1 | 612051 | Spinocerebellar ataxia 31 | AD |
CACNA1A | 601011 | Episodic ataxia, type 2;Migraine, familial hemiplegic, 1;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia;Spinocerebellar ataxia 6;Developemental and epileptic encephalopathy 42 | AD |
FXN | 606829 | Friedreich ataxia;Friedreich ataxia with retained reflexes | AR |
NOP56 | 614154 | Spinocerebellar ataxia 36 | AD |
PPP2R2B | 604325 | Spinocerebellar ataxia 12 | AD |
TBP | 600075 | Spinocerebellar ataxia 17;Parkinson disease, susceptibility to | AD, AD, MF |
COMMON SYNDROMES AND DISORDERS COVERED
- Cerebellar ataxia
- Episodic ataxia
- Pontocerebellar hypoplasia
- Spinocerebellar ataxia
CentoICU®
CentoICU® is a comprehensive NGS panel that includes genes explicitly selected for the genetic testing of critically ill newborns and children under 24 months in intensive care units (ICU). It is designed to address multiple genetic conditions that may be present in the newborn or early childhood period, with many having overlapping phenotypes and immediate implications for treatment initiation. It allows clinicians to utilize just one single test to provide an accurate diagnosis of newborn-related diseases using dried blood spots.
No. of genes: | 855 |
TAT: | 15 days / 10 days (fast option) |
Coverage: | ≥99.0% ≥20x |
Details: | Only next-generation sequencing. CNV analysis not available. |
Overview of Genes and Associated Diseases (OMIM) Included in This Panel
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
AARS1 | 601065 | Trichothiodystrophy 8, nonphotosensitive;Charcot-Marie-Tooth disease, axonal, type 2N;Developmental and epileptic encephalopathy 29;?Leukoencephalopathy, hereditary diffuse, with spheroids 2 | AR, AD |
AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8;Leukoencephalopathy, progressive, with ovarian failure | AR |
AASS | 605113 | Hyperlysinemia | AR |
ABAT | 137150 | GABA-transaminase deficiency | AR |
ABCA12 | 607800 | Ichthyosis, congenital, autosomal recessive 4A;Ichthyosis, congenital, autosomal recessive 4B (harlequin) | AR |
ABCA3 | 601615 | Surfactant metabolism dysfunction, pulmonary, 3 | AR |
ABCB11 | 603201 | Cholestasis, benign recurrent intrahepatic, 2;Cholestasis, progressive familial intrahepatic 2 | AR |
ABCC8 | 600509 | Diabetes mellitus, transient neonatal 2;Diabetes mellitus, noninsulin-dependent;Hyperinsulinemic hypoglycemia, familial, 1;Hypoglycemia of infancy, leucine-sensitive;Diabetes mellitus, permanent neonatal 3, with or without neurologic features | AD, AD, AR |
ABCD1 | 300371 | Adrenoleukodystrophy;Adrenomyeloneuropathy, adult | XLR |
ABCD3 | 170995 | ?Bile acid synthesis defect, congenital, 5 | AR |
ABCD4 | 603214 | Methylmalonic aciduria and homocystinuria, cblJ type | AR |
ACAD8 | 604773 | Isobutyryl-CoA dehydrogenase deficiency | AR |
ACAD9 | 611103 | MT complex I deficiency, nuclear type 20 | AR |
ACADM | 607008 | Acyl-CoA dehydrogenase, medium chain, deficiency of | AR |
ACADS | 606885 | Acyl-CoA dehydrogenase, short-chain, deficiency of | AR |
ACADSB | 600301 | 2-methylbutyrylglycinuria | AR |
ACADVL | 609575 | VLCAD deficiency | AR |
ACAT1 | 607809 | Alpha-methylacetoacetic aciduria | AR |
ACO2 | 100850 | ?Optic atrophy 9;Infantile cerebellar-retinal degeneration | AR |
ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency;Mitchell syndrome | AR, AD |
ACSF3 | 614245 | Combined malonic and methylmalonic aciduria | |
ACTA1 | 102610 | Nemaline myopathy 3, AD or recessive;?Myopathy, scapulohumeroperoneal;Myopathy, congenital, with fiber-type disproportion 1;Myopathy, actin, congenital, with cores;Myopathy, actin, congenital, with excess of thin myofilaments | AD, AR, AD |
ACY1 | 104620 | Aminoacylase 1 deficiency | AR |
ADA | 608958 | Adenosine deaminase deficiency, partial;Severe combined immunodeficiency due to ADA deficiency | AR, SM |
ADAMTS13 | 604134 | Thrombotic thrombocytopenic purpura, hereditary | AR |
ADAMTSL2 | 612277 | Geleophysic dysplasia 1 | AR |
ADAR | 146920 | Aicardi-Goutieres syndrome 6;Dyschromatosis symmetrica hereditaria | AR, AD |
ADK | 102750 | Hypermethioninemia due to adenosine kinase deficiency | AR |
ADNP | 611386 | Helsmoortel-van der Aa syndrome | AD |
ADSL | 608222 | Adenylosuccinase deficiency | AR |
AGA | 613228 | Aspartylglucosaminuria | AR |
AGK | 610345 | Sengers syndrome;Cataract 38, AR | AR |
AGL | 610860 | Glycogen storage disease IIIb;Glycogen storage disease IIIa | AR |
AGPAT2 | 603100 | Lipodystrophy, congenital generalized, type 1 | AR |
AGPS | 603051 | Rhizomelic chondrodysplasia punctata, type 3 | AR |
AGRN | 103320 | Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects | AR |
AGXT | 604285 | Hyperoxaluria, primary, type 1 | AR |
AHCY | 180960 | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | AR |
AICDA | 605257 | Immunodeficiency with hyper-IgM, type 2 | AR |
AIFM1 | 300169 | Cowchock syndrome;Combined oxidative phosphorylation deficiency 6;Deafness, X-linked 5;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy | XLR |
AIMP1 | 603605 | Leukodystrophy, hypomyelinating, 3 | AR |
AKAP9 | 604001 | ?Long QT syndrome 11 | AD |
AKR1D1 | 604741 | Bile acid synthesis defect, congenital, 2 | AR |
AKT2 | 164731 | Diabetes mellitus, type II;Hypoinsulinemic hypoglycemia with hemihypertrophy | AD |
ALAD | 125270 | Porphyria, acute hepatic;Lead poisoning, susceptibility to | AR |
ALAS2 | 301300 | Protoporphyria, erythropoietic, X-linked;Anemia, sideroblastic, 1 | XL, XLR |
ALDH18A1 | 138250 | Cutis laxa, AD 3;Cutis laxa, autosomal recessive, type IIIA;Spastic paraplegia 9B, AR;Spastic paraplegia 9A, AD | AD, AR |
ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
ALDH4A1 | 606811 | Hyperprolinemia, type II | AR |
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
ALDH6A1 | 603178 | Methylmalonate semialdehyde dehydrogenase deficiency | AR |
ALDH7A1 | 107323 | Epilepsy, pyridoxine-dependent | AR |
ALDOA | 103850 | Glycogen storage disease XII | AR |
ALDOB | 612724 | Fructose intolerance, hereditary | AR |
ALG1 | 605907 | Congenital disorder of glycosylation, type Ik | AR |
ALG11 | 613666 | Congenital disorder of glycosylation, type Ip | AR |
ALG12 | 607144 | Congenital disorder of glycosylation, type Ig | AR |
ALG13 | 300776 | ?Congenital disorder of glycosylation, type Is;Developmental and epileptic encephalopathy 36 | XL |
ALG14 | 612866 | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies;?Myasthenic syndrome, congenital, 15, without tubular aggregates;Myopathy, epilepsy, and progressive cerebral atrophy | AR |
ALG2 | 607905 | ?Congenital disorder of glycosylation, type Ii;Myasthenic syndrome, congenital, 14, with tubular aggregates | AR |
ALG3 | 608750 | Congenital disorder of glycosylation, type Id | AR |
ALG6 | 604566 | Congenital disorder of glycosylation, type Ic | AR |
ALG8 | 608103 | Polycystic liver disease 3 with or without kidney cysts;Congenital disorder of glycosylation, type Ih | AD, AR |
ALG9 | 606941 | Congenital disorder of glycosylation, type Il;Gillessen-Kaesbach-Nishimura syndrome | AR |
ALOX12B | 603741 | Ichthyosis, congenital, autosomal recessive 2 | AR |
ALOXE3 | 607206 | Ichthyosis, congenital, autosomal recessive 3 | AR |
ALPL | 171760 | Hypophosphatasia, infantile;Odontohypophosphatasia;Hypophosphatasia, childhood;Hypophosphatasia, adult | AR, AD, AR |
ALS2 | 606352 | Amyotrophic lateral sclerosis 2, juvenile;Spastic paralysis, infantile onset ascending;Primary lateral sclerosis, juvenile | AR |
AMACR | 604489 | Bile acid synthesis defect, congenital, 4;Alpha-methylacyl-CoA racemase deficiency | AR |
AMN | 605799 | Imerslund-Grasbeck syndrome 2 | AR |
AMPD1 | 102770 | Myopathy due to myoadenylate deaminase deficiency | AR |
AMT | 238310 | Glycine encephalopathy | AR |
ANK1 | 612641 | Spherocytosis, type 1 | AD, AR |
ANKRD26 | 610855 | Thrombocytopenia 2 | AD |
ANKS6 | 615370 | Nephronophthisis 16 | AR |
ANTXR1 | 606410 | ?Hemangioma, capillary infantile, susceptibility to;GAPO syndrome | AD, AR |
ANTXR2 | 608041 | Hyaline fibromatosis syndrome | AR |
AP2S1 | 602242 | Hypocalciuric hypercalcemia, type III | AD |
AP4B1 | 607245 | Spastic paraplegia 47, AR | AR |
AP4E1 | 607244 | Stuttering, familial persistent, 1;Spastic paraplegia 51, AR | AD, AR |
AP4M1 | 602296 | Spastic paraplegia 50, AR | AR |
AP4S1 | 607243 | Spastic paraplegia 52, AR | AR |
APOB | 107730 | Hypobetalipoproteinemia;Hypercholesterolemia, familial, 2 | AR, AD |
APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
ARG1 | 608313 | Argininemia | AR |
ARL6 | 608845 | Retinitis pigmentosa 55;Bardet-Biedl syndrome 1, modifier of;Bardet-Biedl syndrome 3 | AR, AR, DR |
ARSA | 607574 | Metachromatic leukodystrophy | AR |
ARSB | 611542 | Mucopolysaccharidosis type VI (Maroteaux-Lamy) | AR |
ARX | 300382 | Developmental and epileptic encephalopathy 1;Mental retardation, X-linked 29 and others;Hydranencephaly with abnormal genitalia;Partington syndrome;Lissencephaly, X-linked 2;Proud syndrome | XLR, XL |
ASAH1 | 613468 | Spinal muscular atrophy with progressive myoclonic epilepsy;Farber lipogranulomatosis | AR |
ASL | 608310 | Argininosuccinic aciduria | AR |
ASNS | 108370 | Asparagine synthetase deficiency | AR |
ASPA | 608034 | Canavan disease | AR |
ASPM | 605481 | Microcephaly 5, primary, AR | AR |
ASS1 | 603470 | Citrullinemia | AR |
ATIC | 601731 | AICA-ribosiduria due to ATIC deficiency | AR |
ATP1A3 | 182350 | Alternating hemiplegia of childhood 2;Dystonia-12;Developmental and epileptic encephalopathy 99;CAPOS syndrome | AD |
ATP6V0A2 | 611716 | Cutis laxa, autosomal recessive, type IIA;Wrinkly skin syndrome | AR |
ATP6V1B1 | 192132 | Distal renal tubular acidosis 2 with progressive sensorineural hearing loss | AR |
ATP7A | 300011 | Menkes disease;Occipital horn syndrome;Spinal muscular atrophy, distal, X-linked 3 | XLR |
ATP7B | 606882 | Wilson disease | AR |
ATP8B1 | 602397 | Cholestasis, progressive familial intrahepatic 1;Cholestasis, intrahepatic, of pregnancy, 1;Cholestasis, benign recurrent intrahepatic | AR, AD |
ATPAF2 | 608918 | ?MT complex V (ATP synthase) deficiency, nuclear type 1 | AR |
ATR | 601215 | ?Cutaneous telangiectasia and cancer syndrome, familial;Seckel syndrome 1 | AD, AR |
ATRX | 300032 | Mental retardation-hypotonic facies syndrome, X-linked;Alpha-thalassemia/mental retardation syndrome;Alpha-thalassemia myelodysplasia syndrome, somatic | XLR, XLD |
AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
B3GLCT | 610308 | Peters-plus syndrome | AR |
B4GALT1 | 137060 | Congenital disorder of glycosylation, type IId | AR |
BCAP31 | 300398 | Deafness, dystonia, and cerebral hypomyelination | XLR |
BCKDHA | 608348 | Maple syrup urine disease, type Ia | AR |
BCKDHB | 248611 | Maple syrup urine disease, type Ib | AR |
BCKDK | 614901 | Branched-chain ketoacid dehydrogenase kinase deficiency | |
BCS1L | 603647 | GRACILE syndrome;Bjornstad syndrome;MT complex III deficiency, nuclear type 1 | AR |
BICD2 | 609797 | Spinal muscular atrophy, lower extremity-predominant, 2A, AD;Spinal muscular atrophy, lower extremity-predominant, 2B, AD | AD |
BIN1 | 601248 | Centronuclear myopathy 2 | AR |
BLNK | 604515 | ?Agammaglobulinemia 4 | AR |
BOLA3 | 613183 | Multiple MT dysfunctions syndrome 2 with hyperglycinemia | AR |
BRAF | 164757 | Cardiofaciocutaneous syndrome;Adenocarcinoma of lung, somatic;Noonan syndrome 7;Colorectal cancer, somatic;Melanoma, malignant, somatic,;LEOPARD syndrome 3 | AD |
BRAT1 | 614506 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures;Rigidity and multifocal seizure syndrome, lethal neonatal | AR |
BRCA2 | 600185 | Prostate cancer;Breast-ovarian cancer, familial, 2;Glioblastoma 3;Wilms tumor;Pancreatic cancer 2;Breast cancer, male, susceptibility to;Fanconi anemia, complementation group D1;Medulloblastoma | AD, SM, AD, AR, AD, AR, SM |
BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2;Encephalopathy, progressive, with or without lipodystrophy;Silver spastic paraplegia syndrome;Neuropathy, distal hereditary motor, type VC | AR, AD |
BSND | 606412 | Bartter syndrome, type 4a;Sensorineural deafness with mild renal dysfunction | AR |
BTD | 609019 | Biotinidase deficiency | AR |
BTK | 300300 | Agammaglobulinemia, X-linked 1;Isolated growth hormone deficiency, type III, with agammaglobulinemia | XLR |
CA12 | 603263 | Hyperchlorhidrosis, isolated | AR |
CACNA1C | 114205 | Long QT syndrome 8;Brugada syndrome 3;Timothy syndrome | AD |
CACNB2 | 600003 | Brugada syndrome 4 | |
CALM1 | 114180 | Long QT syndrome 14;Ventricular tachycardia, catecholaminergic polymorphic, 4 | AD |
CAMTA1 | 611501 | Cerebellar ataxia, nonprogressive, with mental retardation | AD |
CASK | 300172 | Mental retardation, with or without nystagmus;Mental retardation and microcephaly with pontine and cerebellar hypoplasia;FG syndrome 4 | XLD |
CASR | 601199 | Epilepsy idiopathic generalized, susceptibility to, 8;Hypocalcemia, AD, with Bartter syndrome;Hypocalciuric hypercalcemia, type I;Hyperparathyroidism, neonatal;Hypocalcemia, AD | AD, AD, AR |
CAST | 114090 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | AR |
CAV1 | 601047 | Pulmonary hypertension, primary, 3;Lipodystrophy, familial partial, type 7;?Lipodystrophy, congenital generalized, type 3 | AD, AR |
CAV3 | 601253 | Rippling muscle disease 2;Cardiomyopathy, familial hypertrophic;Creatine phosphokinase, elevated serum;Long QT syndrome 9;Myopathy, distal, Tateyama type | AD, AD, DD |
CAVIN1 | 603198 | Lipodystrophy, congenital generalized, type 4 | AR |
CBS | 613381 | Thrombosis, hyperhomocysteinemic;Homocystinuria, B6-responsive and nonresponsive types | AR |
CCDC103 | 614677 | Ciliary dyskinesia, primary, 17 | AR |
CCDC78 | 614666 | ?Centronuclear myopathy 4 | AD |
CD19 | 107265 | Immunodeficiency, common variable, 3 | AR |
CD247 | 186780 | ?Immunodeficiency 25 | AR |
CD320 | 606475 | Methylmalonic aciduria, transient, due to transcobalamin receptor defect | |
CD3D | 186790 | Immunodeficiency 19 | AR |
CD3E | 186830 | Immunodeficiency 18, SCID variant;Immunodeficiency 18 | AR |
CD3G | 186740 | Immunodeficiency 17, CD3 gamma deficient | AR |
CD40 | 109535 | Immunodeficiency with hyper-IgM, type 3 | AR |
CD40LG | 300386 | Immunodeficiency, X-linked, with hyper-IgM | XLR |
CD59 | 107271 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy | AR |
CD79A | 112205 | Agammaglobulinemia 3 | AR |
CD79B | 147245 | Agammaglobulinemia 6 | AR |
CD81 | 186845 | Immunodeficiency, common variable, 6 | AR |
CD96 | 606037 | C syndrome | AD |
CDAN1 | 607465 | Dyserythropoietic anemia, congenital, type Ia | AR |
CDCA8 | 609977 | ||
CDK5RAP2 | 608201 | Microcephaly 3, primary, AR | AR |
CDKL5 | 300203 | Developmental and epileptic encephalopathy 2 | XLD |
CDKN1C | 600856 | IMAGE syndrome;Beckwith-Wiedemann syndrome | AD |
CENPJ | 609279 | ?Seckel syndrome 4;Microcephaly 6, primary, AR | AR |
CEP152 | 613529 | Microcephaly 9, primary, AR;Seckel syndrome 5 | AR |
CEP290 | 610142 | Leber congenital amaurosis 10;Meckel syndrome 4;?Bardet-Biedl syndrome 14;Senior-Loken syndrome 6;Joubert syndrome 5 | AR |
CERS3 | 615276 | Ichthyosis, congenital, autosomal recessive 9 | AR |
CFAP298 | 615494 | Ciliary dyskinesia, primary, 26 | AR |
CFH | 134370 | Basal laminar drusen;Macular degeneration, age-related, 4;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Complement factor H deficiency | AD, AD, AR |
CFHR3 | 605336 | Macular degeneration, age-related, reduced risk of;Hemolytic uremic syndrome, atypical, susceptibility to | AD, AD, AR |
CFL2 | 601443 | Nemaline myopathy 7, AR | AR |
CFTR | 602421 | Congenital bilateral absence of vas deferens;Pancreatitis, hereditary;Bronchiectasis with or without elevated sweat chloride 1, modifier of;Cystic fibrosis | AR, AD |
CHAT | 118490 | Myasthenic syndrome, congenital, 6, presynaptic | AR |
CHD7 | 608892 | CHARGE syndrome;Hypogonadotropic hypogonadism 5 with or without anosmia | AD |
CHKB | 612395 | Muscular dystrophy, congenital, megaconial type | AR |
CHM | 300390 | Choroideremia | XL |
CHRNA1 | 100690 | Myasthenic syndrome, congenital, 1B, fast-channel;Myasthenic syndrome, congenital, 1A, slow-channel;Multiple pterygium syndrome, lethal type | AD, AR, AD, AR |
CHRNB1 | 100710 | Myasthenic syndrome, congenital, 2A, slow-channel;?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency | AD, AR |
CHRND | 100720 | ?Myasthenic syndrome, congenital, 3A, slow-channel;Myasthenic syndrome, congenital, 3B, fast-channel;Multiple pterygium syndrome, lethal type;?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency | AD, AR |
CHRNE | 100725 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, 4A, slow-channel;Myasthenic syndrome, congenital, 4B, fast-channel | AR, AD, AR |
CLCN1 | 118425 | Myotonia congenita, dominant;Myotonia congenita, recessive | AD, AR |
CLCNKA | 602024 | Bartter syndrome, type 4b, digenic | DR |
CLCNKB | 602023 | Bartter syndrome, type 3;Bartter syndrome, type 4b, digenic | AR, DR |
CLDN16 | 603959 | Hypomagnesemia 3, renal | AR |
CLN3 | 607042 | Ceroid lipofuscinosis, neuronal, 3 | AR |
CLN5 | 608102 | Ceroid lipofuscinosis, neuronal, 5 | AR |
CLN6 | 606725 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset;Ceroid lipofuscinosis, neuronal, 6 | AR |
CLN8 | 607837 | Ceroid lipofuscinosis, neuronal, 8;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant | AR |
CLPB | 616254 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia | AR |
CNTN1 | 600016 | ?Myopathy, congenital, Compton-North | AR |
COA5 | 613920 | ?MT complex IV, deficiency, nuclear type 9 | AR |
COG1 | 606973 | Congenital disorder of glycosylation, type IIg | AR |
COG6 | 606977 | Shaheen syndrome;Congenital disorder of glycosylation, type IIl | AR |
COG7 | 606978 | Congenital disorder of glycosylation, type IIe | AR |
COL11A1 | 120280 | Marshall syndrome;Fibrochondrogenesis 1;Lumbar disc herniation, susceptibility to;?Deafness, AD 37;Stickler syndrome, type II | AD, AR |
COL17A1 | 113811 | Epithelial recurrent erosion dystrophy;Epidermolysis bullosa, junctional, localisata variant;Epidermolysis bullosa, junctional, non-Herlitz type | AD, AR |
COL1A1 | 120150 | Ehlers-Danlos syndrome, arthrochalasia type, 1;Bone mineral density variation QTL, osteoporosis;Osteogenesis imperfecta, type III;Osteogenesis imperfecta, type I;Caffey disease;Osteogenesis imperfecta, type IV;Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1;Osteogenesis imperfecta, type II | AD |
COL1A2 | 120160 | Osteoporosis, postmenopausal;Ehlers-Danlos syndrome, cardiac valvular type;Ehlers-Danlos syndrome, arthrochalasia type, 2;Osteogenesis imperfecta, type III;Osteogenesis imperfecta, type IV;Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2;Osteogenesis imperfecta, type II | AD, AR |
COL2A1 | 120140 | Legg-Calve-Perthes disease;Stickler syndrome, type I;Osteoarthritis with mild chondrodysplasia;Platyspondylic skeletal dysplasia, Torrance type;Spondyloepiphyseal dysplasia, Stanescu type;Kniest dysplasia;Czech dysplasia;Stickler sydrome, type I, nonsyndromic ocular;?Vitreoretinopathy with phalangeal epiphyseal dysplasia;?Epiphyseal dysplasia, multiple, with myopia and deafness;Avascular necrosis of the femoral head;Spondyloperipheral dysplasia;Achondrogenesis, type II or hypochondrogenesis;SMED Strudwick type;SED congenita | AD |
COL3A1 | 120180 | Ehlers-Danlos syndrome, vascular type;Polymicrogyria with or without vascular-type EDS | AD, AR |
COL5A2 | 120190 | Ehlers-Danlos syndrome, classic type, 2 | AD |
COL6A1 | 120220 | Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1 | AD, AR |
COL6A2 | 120240 | Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;?Myosclerosis, congenital | AD, AR, AR |
COL6A3 | 120250 | Dystonia 27;Ullrich congenital muscular dystrophy 1;Bethlem myopathy 1 | AR, AD, AR |
COL7A1 | 120120 | Epidermolysis bullosa dystrophica, AR;Epidermolysis bullosa dystrophica, AD;Epidermolysis bullosa pruriginosa;Transient bullous of the newborn;Epidermolysis bullosa, pretibial;Toenail dystrophy, isolated;EBD, Bart type;EBD inversa | AR, AD, AD, AR |
COLQ | 603033 | Myasthenic syndrome, congenital, 5 | AR |
COMP | 600310 | Carpal tunnel syndrome 2;Epiphyseal dysplasia, multiple, 1;Pseudoachondroplasia | AD |
COQ2 | 609825 | Coenzyme Q10 deficiency, primary, 1;Multiple system atrophy, susceptibility to | AR, AD, AR |
COQ8A | 606980 | Coenzyme Q10 deficiency, primary, 4 | AR |
COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
CORO1A | 605000 | Immunodeficiency 8 | AR |
COX10 | 602125 | MT complex IV deficiency, nuclear type 3 | AR |
COX15 | 603646 | MT complex IV deficiency, nuclear type 6 | AR |
COX20 | 614698 | MT complex IV deficiency, nuclear type 11 | AR |
COX6B1 | 124089 | MT complex IV deficiency, nuclear type 7 | AR |
CPS1 | 608307 | Carbamoylphosphate synthetase I deficiency;Pulmonary hypertension, neonatal, susceptibility to | AR |
CPT1A | 600528 | CPT deficiency, hepatic, type IA | AR |
CPT2 | 600650 | CPT II deficiency, myopathic, stress-induced;CPT II deficiency, infantile;Encephalopathy, acute, infection-induced, 4, susceptibility to;CPT II deficiency, lethal neonatal | AD, AR, AR |
CR2 | 120650 | Immunodeficiency, common variable, 7;Systemic lupus erythematosus, susceptibility to, 9 | AR |
CRPPA | 614631 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | AR |
CRTAP | 605497 | Osteogenesis imperfecta, type VII | AR |
CTNS | 606272 | Cystinosis, late-onset juvenile or adolescent nephropathic;Cystinosis, ocular nonnephropathic;Cystinosis, nephropathic;Cystinosis, atypical nephropathic | AR |
CTPS1 | 123860 | Immunodeficiency 24 | AR |
CTSA | 613111 | Galactosialidosis | AR |
CTSD | 116840 | Ceroid lipofuscinosis, neuronal, 10 | AR |
CUL4B | 300304 | Mental retardation, X-linked, syndromic 15 (Cabezas type) | XLR |
CXCR4 | 162643 | WHIM syndrome | AD |
CYP11B1 | 610613 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency;Aldosteronism, glucocorticoid-remediable | AR, AD |
CYP11B2 | 124080 | Hypoaldosteronism, congenital, due to CMO II deficiency;Hypoaldosteronism, congenital, due to CMO I deficiency | AR |
CYP17A1 | 609300 | 17,20-lyase deficiency, isolated;17-alpha-hydroxylase/17,20-lyase deficiency | AR |
CYP4F22 | 611495 | Ichthyosis, congenital, autosomal recessive 5 | AR |
CYP7B1 | 603711 | Spastic paraplegia 5A, AR;Bile acid synthesis defect, congenital, 3 | AR |
D2HGDH | 609186 | D-2-hydroxyglutaric aciduria | AR |
DBT | 248610 | Maple syrup urine disease, type II | AR |
DCLRE1C | 605988 | Omenn syndrome;Severe combined immunodeficiency, Athabascan type | AR |
DDC | 107930 | Aromatic L-amino acid decarboxylase deficiency | AR |
DDOST | 602202 | ?Congenital disorder of glycosylation, type Ir | AR |
DDR2 | 191311 | Spondylometaepiphyseal dysplasia, short limb-hand type;Warburg-Cinotti syndrome | AR, AD |
DEPDC5 | 614191 | Epilepsy, familial focal, with variable foci 1 | AD |
DES | 125660 | Cardiomyopathy, dilated, 1I;Myopathy, myofibrillar, 1;Scapuloperoneal syndrome, neurogenic, Kaeser type | AD, AD, AR |
DGUOK | 601465 | Portal hypertension, noncirrhotic;Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 4;MT DNA depletion syndrome 3 (hepatocerebral type) | AR |
DHCR24 | 606418 | Desmosterolosis | AR |
DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
DIAPH1 | 602121 | Seizures, cortical blindness, microcephaly syndrome;Deafness, AD 1, with or without thrombocytopenia | AR, AD |
DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
DLD | 238331 | Dihydrolipoamide dehydrogenase deficiency | AR |
DMD | 300377 | Cardiomyopathy, dilated, 3B;Duchenne muscular dystrophy;Becker muscular dystrophy | XL, XLR |
DNA2 | 601810 | ?Seckel syndrome 8;Progressive external ophthalmoplegia with MT DNA deletions, AD 6 | AR, AD |
DNAH11 | 603339 | Ciliary dyskinesia, primary, 7, with or without situs inversus | AR |
DNAH5 | 603335 | Ciliary dyskinesia, primary, 3, with or without situs inversus | AR |
DNAI1 | 604366 | Ciliary dyskinesia, primary, 1, with or without situs inversus | AR |
DNAI2 | 605483 | Ciliary dyskinesia, primary, 9, with or without situs inversus | AR |
DNAJC19 | 608977 | 3-methylglutaconic aciduria, type V | AR |
DNM2 | 602378 | Lethal congenital contracture syndrome 5;Charcot-Marie-Tooth disease, axonal type 2M;Charcot-Marie-Tooth disease, dominant intermediate B;Centronuclear myopathy 1 | AR, AD |
DOCK7 | 615730 | Developmental and epileptic encephalopathy 23 | AR |
DOCK8 | 611432 | Hyper-IgE recurrent infection syndrome, AR | AR |
DOK7 | 610285 | Fetal akinesia deformation sequence 3;Myasthenic syndrome, congenital, 10 | AR |
DOLK | 610746 | Congenital disorder of glycosylation, type Im | AR |
DPAGT1 | 191350 | Myasthenic syndrome, congenital, 13, with tubular aggregates;Congenital disorder of glycosylation, type Ij | AR |
DPM2 | 603564 | Congenital disorder of glycosylation, type Iu | AR |
DPYD | 612779 | 5-fluorouracil toxicity;Dihydropyrimidine dehydrogenase deficiency | AR |
DRC1 | 615288 | Ciliary dyskinesia, primary, 21 | AR |
DSP | 125647 | Cardiomyopathy, dilated, with woolly hair and keratoderma;Arrhythmogenic right ventricular dysplasia 8;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome;Epidermolysis bullosa, lethal acantholytic;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis | AR, AD |
DST | 113810 | ?Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 | AR |
DUOX2 | 606759 | Thyroid dyshormonogenesis 6 | AR |
DUOXA2 | 612772 | Thyroid dyshormonogenesis 5 | AR |
DYSF | 603009 | Muscular dystrophy, limb-girdle, autosomal recessive 2;Myopathy, distal, with anterior tibial onset;Miyoshi muscular dystrophy 1 | AR |
EDN3 | 131242 | Waardenburg syndrome, type 4B;Hirschsprung disease, susceptibility to, 4;Central hypoventilation syndrome, congenital | AD, AR, AD |
EEF1A2 | 602959 | Mental retardation, AD 38;Developmental and epileptic encephalopathy 33 | AD |
EGR2 | 129010 | Dejerine-Sottas disease;Hypomyelinating neuropathy, congenital, 1;Charcot-Marie-Tooth disease, type 1D | AD, AR, AD |
EIF2AK3 | 604032 | Wolcott-Rallison syndrome | AR |
EIF2B1 | 606686 | Leukoencephalopathy with vanishing white matter | AR |
EIF2B2 | 606454 | Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter | AR |
EIF2B3 | 606273 | Leukoencephalopathy with vanishing white matter | AR |
EIF2B4 | 606687 | Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter | AR |
EIF2B5 | 603945 | Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter | AR |
ELAC2 | 605367 | Prostate cancer, hereditary, 2, susceptibility to;Combined oxidative phosphorylation deficiency 17 | AR |
ELANE | 130130 | Neutropenia, cyclic;Neutropenia, severe congenital 1, AD | AD |
ENPP1 | 173335 | Arterial calcification, generalized, of infancy, 1;Obesity, susceptibility to;Hypophosphatemic rickets, autosomal recessive, 2;Cole disease;Diabetes mellitus, non-insulin-dependent, susceptibility to | AR, AD, AR, MF, AD |
EPB42 | 177070 | Spherocytosis, type 5 | |
EPCAM | 185535 | Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital | AR |
ETFA | 608053 | Glutaric acidemia IIA | AR |
ETFB | 130410 | Glutaric acidemia IIB | AR |
ETFDH | 231675 | Glutaric acidemia IIC | AR |
ETHE1 | 608451 | Ethylmalonic encephalopathy | AR |
EVC | 604831 | Ellis-van Creveld syndrome;?Weyers acrofacial dysostosis | AR, AD |
EVC2 | 607261 | Ellis-van Creveld syndrome;Weyers acrofacial dysostosis | AR, AD |
EXOSC3 | 606489 | Pontocerebellar hypoplasia, type 1B | AR |
EYA1 | 601653 | Anterior segment anomalies with or without cataract;Branchiootorenal syndrome 1, with or without cataracts;?Otofaciocervical syndrome;Branchiootic syndrome 1 | AD |
EYA4 | 603550 | Deafness, AD 10;?Cardiomyopathy, dilated, 1J | AD |
F10 | 613872 | Factor X deficiency | AR |
F11 | 264900 | Factor XI deficiency, AD;Factor XI deficiency, AR | |
F13A1 | 134570 | Factor XIIIA deficiency;Venous thrombosis, protection against;Myocardial infarction, protection against | AR, AD |
F2 | 176930 | Dysprothrombinemia;Stroke, ischemic, susceptibility to;Pregnancy loss, recurrent, susceptibility to, 2;Hypoprothrombinemia;Thrombophilia due to thrombin defect | AR, MF, AD |
F5 | 612309 | Pregnancy loss, recurrent, susceptibility to, 1;Factor V deficiency;Stroke, ischemic, susceptibility to;Budd-Chiari syndrome;Thrombophilia, susceptibility to, due to factor V Leiden;Thrombophilia due to activated protein C resistance | AD, AR, MF |
F7 | 613878 | Myocardial infarction, decreased susceptibility to;Factor VII deficiency | AR |
F8 | 300841 | Thrombophilia 13, X-linked, due to factor VIII defect;Hemophilia A | XLR |
F9 | 300746 | Warfarin sensitivity;Thrombophilia, X-linked, due to factor IX defect;Hemophilia B;Deep venous thrombosis, protection against | XL, XLR |
FADD | 602457 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | AR |
FAH | 613871 | Tyrosinemia, type I | AR |
FANCA | 607139 | Fanconi anemia, complementation group A | AR |
FANCB | 300515 | Fanconi anemia, complementation group B | XLR |
FANCC | 613899 | Fanconi anemia, complementation group C | AR |
FANCD2 | 613984 | Fanconi anemia, complementation group D2 | AR |
FANCL | 608111 | Fanconi anemia, complementation group L | AR |
FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14;Spastic paraplegia 77, AR | AR |
FASTKD2 | 612322 | Combined oxidative phosphorylation deficiency 44 | AR |
FBN1 | 134797 | Marfan lipodystrophy syndrome;Geleophysic dysplasia 2;Acromicric dysplasia;Marfan syndrome;Weill-Marchesani syndrome 2, dominant;Stiff skin syndrome;MASS syndrome;Ectopia lentis, familial | AD |
FBP1 | 611570 | Fructose-1,6-bisphosphatase deficiency | AR |
FBXL4 | 605654 | MT DNA depletion syndrome 13 (encephalomyopathic type) | AR |
FGA | 134820 | Hypodysfibrinogenemia, congenital;Afibrinogenemia, congenital;Amyloidosis, familial visceral;Dysfibrinogenemia, congenital | AR, AD |
FGB | 134830 | Afibrinogenemia, congenital;Dysfibrinogenemia, congenital;Hypofibrinogenemia, congenital | AR |
FGFR2 | 176943 | Crouzon syndrome;Saethre-Chotzen syndrome;Craniofacial-skeletal-dermatologic dysplasia;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;Gastric cancer, somatic;LADD syndrome;Beare-Stevenson cutis gyrata syndrome;Scaphocephaly, maxillary retrusion, and mental retardation;Apert syndrome;Bent bone dysplasia syndrome;Pfeiffer syndrome;Jackson-Weiss syndrome | AD |
FGFR3 | 134934 | Achondroplasia;CATSHL syndrome;Thanatophoric dysplasia, type I;Bladder cancer, somatic;Hypochondroplasia;SADDAN;Colorectal cancer, somatic;Crouzon syndrome with acanthosis nigricans;Cervical cancer, somatic;Nevus, epidermal, somatic;Thanatophoric dysplasia, type II;Spermatocytic seminoma, somatic;Muenke syndrome;LADD syndrome | AD, AD, AR |
FGG | 134850 | Dysfibrinogenemia, congenital;Afibrinogenemia, congenital;Hypofibrinogenemia, congenital;Hypodysfibrinogenemia | AR |
FH | 136850 | Fumarase deficiency;Leiomyomatosis and renal cell cancer | AR, AD |
FIG4 | 609390 | Amyotrophic lateral sclerosis 11;Yunis-Varon syndrome;Charcot-Marie-Tooth disease, type 4J;?Polymicrogyria, bilateral temporooccipital | AD, AR |
FKBP14 | 614505 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | AR |
FKRP | 606596 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | AR |
FKTN | 607440 | Cardiomyopathy, dilated, 1X;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | AR |
FOXC1 | 601090 | Anterior segment dysgenesis 3, multiple subtypes;Axenfeld-Rieger syndrome, type 3 | AD |
FOXE1 | 602617 | Bamforth-Lazarus syndrome;Thyroid cancer, nonmedullary, 4 | AR, AD |
FOXG1 | 164874 | Rett syndrome, congenital variant | AD |
FOXP3 | 300292 | Immunodysregulation, polyendocrinopathy, and enteropathy, XL | XLR |
FOXRED1 | 613622 | MT complex I deficiency, nuclear type 19 | AR |
FRAS1 | 607830 | Fraser syndrome 1 | AR |
FUCA1 | 612280 | Fucosidosis | AR |
G6PC1 | 613742 | Glycogen storage disease Ia | AR |
G6PD | 305900 | Resistance to malaria due to G6PD deficiency;Hemolytic anemia, G6PD deficient (favism) | XLD |
GAA | 606800 | Glycogen storage disease II | AR |
GALC | 606890 | Krabbe disease | AR |
GALE | 606953 | Galactose epimerase deficiency | AR |
GALK1 | 604313 | Galactokinase deficiency with cataracts | AR |
GALNS | 612222 | Mucopolysaccharidosis IVA | AR |
GALT | 606999 | Galactosemia | AR |
GAMT | 601240 | Cerebral creatine deficiency syndrome 2 | AR |
GAN | 605379 | Giant axonal neuropathy-1 | AR |
GARS1 | 600287 | Spinal muscular atrophy, infantile, James type;Charcot-Marie-Tooth disease, type 2D;Neuronopathy, distal hereditary motor, type VA | AD |
GATA1 | 305371 | Thrombocytopenia with beta-thalassemia, X-linked;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia;Anemia, X-linked, with/without neutropenia and/or platelet abnormalities;Leukemia, megakaryoblastic, with or without Down syndrome, somatic | XLR |
GATM | 602360 | Cerebral creatine deficiency syndrome 3;Fanconi renotubular syndrome 1 | AR, AD |
GBA | 606463 | Lewy body dementia, susceptibility to;Gaucher disease, type IIIC;Parkinson disease, late-onset, susceptibility to;Gaucher disease, type II;Gaucher disease, type III;Gaucher disease, perinatal lethal;Gaucher disease, type I | AD, AR, AD, MF |
GBE1 | 607839 | Glycogen storage disease IV;Polyglucosan body disease, adult form | AR |
GCDH | 608801 | Glutaricaciduria, type I | AR |
GCH1 | 600225 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia;Hyperphenylalaninemia, BH4-deficient, B | AD, AR, AR |
GCK | 138079 | Diabetes mellitus, permanent neonatal 1;Diabetes mellitus, noninsulin-dependent, late onset;Hyperinsulinemic hypoglycemia, familial, 3;MODY, type II | AR, AD |
GCSH | 238330 | ?Glycine encephalopathy | AR |
GDAP1 | 606598 | Charcot-Marie-Tooth disease, axonal, type 2K;Charcot-Marie-Tooth disease, type 4A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis;Charcot-Marie-Tooth disease, recessive intermediate, A | AD, AR, AR |
GFAP | 137780 | Alexander disease | AD |
GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
GFPT1 | 138292 | Myasthenia, congenital, 12, with tubular aggregates | AR |
GJA1 | 121014 | Oculodentodigital dysplasia, AR;Atrioventricular septal defect 3;Syndactyly, type III;Craniometaphyseal dysplasia, AR;Palmoplantar keratoderma with congenital alopecia;Oculodentodigital dysplasia;Hypoplastic left heart syndrome 1;Erythrokeratodermia variabilis et progressiva 3 | AR, AD |
GJB2 | 121011 | Keratoderma, palmoplantar, with deafness;Keratitis-ichthyosis-deafness syndrome;Deafness, AD 3A;Hystrix-like ichthyosis with deafness;Bart-Pumphrey syndrome;Vohwinkel syndrome;Deafness, autosomal recessive 1A | AD, AR, DD |
GJB4 | 605425 | Erythrokeratodermia variabilis et progressiva 2 | AD |
GK | 300474 | Glycerol kinase deficiency | XLR |
GLA | 300644 | Fabry disease;Fabry disease, cardiac variant | XL |
GLB1 | 611458 | GM1-gangliosidosis, type II;GM1-gangliosidosis, type I;Mucopolysaccharidosis type IVB (Morquio);GM1-gangliosidosis, type III | AR |
GLDC | 238300 | Glycine encephalopathy | AR |
GLIS3 | 610192 | Diabetes mellitus, neonatal, with congenital hypothyroidism | AR |
GLRA1 | 138491 | Hyperekplexia 1 | AD, AR |
GLRB | 138492 | Hyperekplexia 2 | AR |
GLUD1 | 138130 | Hyperinsulinism-hyperammonemia syndrome | AD |
GLYCTK | 610516 | D-glyceric aciduria | AR |
GMPPB | 615320 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | AR |
GNAS | 139320 | Pseudohypoparathyroidism Ic;Osseous heteroplasia, progressive;Pseudopseudohypoparathyroidism;Pseudohypoparathyroidism Ia;Pseudohypoparathyroidism Ib;Pituitary adenoma 3, multiple types, somatic;ACTH-independent macronodular adrenal hyperplasia;McCune-Albright syndrome, somatic, mosaic | AD, SM |
GNE | 603824 | Nonaka myopathy;Sialuria | AR, AD |
GNMT | 606628 | Glycine N-methyltransferase deficiency | AR |
GNPAT | 602744 | Rhizomelic chondrodysplasia punctata, type 2 | AR |
GNPTAB | 607840 | Mucolipidosis III alpha/beta;Mucolipidosis II alpha/beta | AR |
GP1BA | 606672 | Bernard-Soulier syndrome, type A1 (recessive);von Willebrand disease, platelet-type;Bernard-Soulier syndrome, type A2 (dominant);Nonarteritic anterior ischemic optic neuropathy, susceptibility to | AR, AD |
GP1BB | 138720 | Giant platelet disorder, isolated;Bernard-Soulier syndrome, type B | AR |
GP9 | 173515 | Bernard-Soulier syndrome, type C | AR |
GPC3 | 300037 | Simpson-Golabi-Behmel syndrome, type 1;Wilms tumor, somatic | XLR |
GPHN | 603930 | Molybdenum cofactor deficiency C | AR |
GPSM2 | 609245 | Chudley-McCullough syndrome | AR |
GSS | 601002 | Glutathione synthetase deficiency;Hemolytic anemia due to glutathione synthetase deficiency | AR |
GUSB | 611499 | Mucopolysaccharidosis VII | AR |
GYS2 | 138571 | Glycogen storage disease 0, liver | AR |
HADH | 601609 | 3-hydroxyacyl-CoA dehydrogenase deficiency;Hyperinsulinemic hypoglycemia, familial, 4 | AR |
HADHA | 600890 | HELLP syndrome, maternal, of pregnancy;LCHAD deficiency;Fatty liver, acute, of pregnancy;MT trifunctional protein deficiency | AR |
HADHB | 143450 | Trifunctional protein deficiency | AR |
HAMP | 606464 | Hemochromatosis, type 2B | AR |
HAX1 | 605998 | Neutropenia, severe congenital 3, AR | AR |
HBA1 | 141800 | Methemoglobinemia, alpha type;Heinz body anemias, alpha-;Erythrocytosis 7;Thalassemias, alpha-;Hemoglobin H disease, nondeletional | AD |
HBA2 | 141850 | Thalassemia, alpha-;Erythrocytosis 7;Heinz body anemia;Hemoglobin H disease, deletional and nondeletional | AD |
HBB | 141900 | Erythrocytosis 6;Methemoglobinemia, beta type;Delta-beta thalassemia;Thalassemia-beta, dominant inclusion-body;Sickle cell anemia;Hereditary persistence of fetal hemoglobin;Malaria, resistance to;Thalassemia, beta;Heinz body anemia | AD, AR |
HCFC1 | 300019 | Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) | XLR |
HESX1 | 601802 | Septooptic dysplasia;Pituitary hormone deficiency, combined, 5;Growth hormone deficiency with pituitary anomalies | AD, AR |
HEXA | 606869 | Tay-Sachs disease;[Hex A pseudodeficiency];GM2-gangliosidosis, several forms | AR |
HEXB | 606873 | Sandhoff disease, infantile, juvenile, and adult forms | AR |
HGD | 607474 | Alkaptonuria | AR |
HGF | 142409 | Deafness, autosomal recessive 39 | AR |
HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
HMGCS2 | 600234 | HMG-CoA synthase-2 deficiency | AR |
HNF1A | 142410 | Diabetes mellitus, insulin-dependent;Diabetes mellitus, insulin-dependent, 20;MODY, type III;Diabetes mellitus, noninsulin-dependent, 2;Hepatic adenoma, somatic;Renal cell carcinoma | AR, AD |
HNF1B | 189907 | Renal cysts and diabetes syndrome;Diabetes mellitus, noninsulin-dependent;Renal cell carcinoma | AD |
HNF4A | 600281 | Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young;Diabetes mellitus, noninsulin-dependent;MODY, type I | AD |
HPD | 609695 | Hawkinsinuria;Tyrosinemia, type III | AD, AR |
HPGD | 601688 | Cranioosteoarthropathy;?Digital clubbing, isolated congenital;Hypertrophic osteoarthropathy, primary, autosomal recessive 1 | AR |
HRAS | 190020 | Thyroid carcinoma, follicular, somatic;Spitz nevus or nevus spilus, somatic;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Bladder cancer, somatic;Costello syndrome;Nevus sebaceous or woolly hair nevus, somatic;Congenital myopathy with excess of muscle spindles | AD |
HSD17B10 | 300256 | HSD10 MT disease | XLD |
HSD17B4 | 601860 | Perrault syndrome 1;D-bifunctional protein deficiency | AR |
HSD3B2 | 613890 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR |
HSD3B7 | 607764 | Bile acid synthesis defect, congenital, 1 | AR |
HSPA9 | 600548 | Even-plus syndrome;Anemia, sideroblastic, 4 | AR, AD |
HSPD1 | 118190 | Leukodystrophy, hypomyelinating, 4;Spastic paraplegia 13, AD | AR, AD |
HSPG2 | 142461 | Schwartz-Jampel syndrome, type 1;Dyssegmental dysplasia, Silverman-Handmaker type | AR |
ICOS | 604558 | Immunodeficiency, common variable, 1 | AR |
IDUA | 252800 | Mucopolysaccharidosis Is;Mucopolysaccharidosis Ih/s;Mucopolysaccharidosis Ih | AR |
IER3IP1 | 609382 | Microcephaly, epilepsy, and diabetes syndrome | AR |
IFIH1 | 606951 | Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1 | AD |
IFT172 | 607386 | Retinitis pigmentosa 71;Bardet-Biedl syndrome 20;Short-rib thoracic dysplasia 10 with or without polydactyly | AR |
IGF1 | 147440 | Growth retardation with deafness and mental retardation due to IGF1 deficiency | AR |
IGF1R | 147370 | Insulin-like growth factor I, resistance to | AD, AR |
IGHMBP2 | 600502 | Neuronopathy, distal hereditary motor, type VI;Charcot-Marie-Tooth disease, axonal, type 2S | AR |
IGLL1 | 146770 | Agammaglobulinemia 2 | AR |
IGSF1 | 300137 | Hypothyroidism, central, and testicular enlargement | XLR |
IKBKB | 603258 | Immunodeficiency 15B;Immunodeficiency 15A | AR, AD |
IL12RB1 | 601604 | Immunodeficiency 30 | AR |
IL2RA | 147730 | Diabetes, mellitus, insulin-dependent, susceptibility to, 10;Immunodeficiency 41 with lymphoproliferation and autoimmunity | AR |
IL2RG | 308380 | Severe combined immunodeficiency, X-linked;Combined immunodeficiency, X-linked, moderate | XLR |
IL7R | 146661 | Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type | AR |
INS | 176730 | Diabetes mellitus, insulin-dependent, 2;Maturity-onset diabetes of the young, type 10;Hyperproinsulinemia;Diabetes mellitus, permanent neonatal 4 | AD, AD, AR |
INSR | 147670 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans;Rabson-Mendenhall syndrome;Hyperinsulinemic hypoglycemia, familial, 5;Leprechaunism | AR, AD |
INVS | 243305 | Nephronophthisis 2, infantile | AR |
IRF8 | 601565 | Immunodeficiency 32B, monocyte and dendritic cell deficiency, AR;Immunodeficiency 32A, mycobacteriosis, AD | AR, AD |
IRS4 | 300904 | Hypothyroidism, congenital, nongoitrous, 9 | XLR |
ITGA2B | 607759 | Glanzmann thrombasthenia;Bleeding disorder, platelet-type, 16, AD | AR, AD |
ITGA6 | 147556 | Epidermolysis bullosa, junctional, with pyloric stenosis | AR |
ITGA7 | 600536 | Muscular dystrophy, congenital, due to ITGA7 deficiency | AR |
ITGB3 | 173470 | Glanzmann thrombasthenia 2;Glanzmann thrombasthenia;Bleeding disorder, platelet-type, 16, AD;Myocardial infarction, susceptibility to;Bleeding disorder, platelet-type, 24, AD | AR, AD |
ITGB4 | 147557 | Epidermolysis bullosa, junctional, non-Herlitz type;Epidermolysis bullosa of hands and feet;Epidermolysis bullosa, junctional, with pyloric atresia | AR, AD |
IVD | 607036 | Isovaleric acidemia | AR |
IYD | 612025 | Thyroid dyshormonogenesis 4 | AR |
JAG1 | 601920 | Alagille syndrome 1;Charcot-Marie-Tooth disease, axonal, type 2HH;?Deafness, congenital heart defects, and posterior embryotoxon;Tetralogy of Fallot | AD |
JAGN1 | 616012 | Neutropenia, severe congenital, 6, AR | AR |
JAK3 | 600173 | SCID, autosomal recessive, T-negative/B-positive type | AR |
JAM3 | 606871 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | AR |
KAT6A | 601408 | Arboleda-Tham syndrome | AD |
KAT6B | 605880 | SBBYSS syndrome;Genitopatellar syndrome | AD |
KBTBD13 | 613727 | Nemaline myopathy 6, AD | AD |
KCNE1 | 176261 | Jervell and Lange-Nielsen syndrome 2;Long QT syndrome 5 | AR, AD |
KCNH1 | 603305 | Zimmermann-Laband syndrome 1;Temple-Baraitser syndrome | AD |
KCNH2 | 152427 | Long QT syndrome 2;Short QT syndrome 1;Long QT syndrome 2, acquired, susceptibility to | AD |
KCNJ10 | 602208 | Enlarged vestibular aqueduct, digenic;SESAME syndrome | AR |
KCNJ11 | 600937 | Maturity-onset diabetes of the young, type 13;Diabetes mellitus, transient neonatal 3;Hyperinsulinemic hypoglycemia, familial, 2;Diabetes, permanent neonatal 2, with or without neurologic features;Diabetes mellitus, type 2, susceptibility to | AD, AD, AR |
KCNQ1 | 607542 | Long QT syndrome 1, acquired, susceptibility to;Jervell and Lange-Nielsen syndrome;Atrial fibrillation, familial, 3;Short QT syndrome 2;Long QT syndrome 1 | AD, AR |
KCNQ2 | 602235 | Seizures, benign neonatal, 1;Developmental and epileptic encephalopathy 7;Myokymia | AD |
KCNQ3 | 602232 | Seizures, benign neonatal, 2 | AD |
KCNT1 | 608167 | Developmental and epileptic encephalopathy 14;Epilepsy nocturnal frontal lobe, 5 | AD |
KCTD7 | 611725 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | AR |
KIF1B | 605995 | ?Charcot-Marie-Tooth disease, type 2A1;Pheochromocytoma;Neuroblastoma, susceptibility to, 1 | AD, AD, SM |
KLF1 | 600599 | Dyserythropoietic anemia, congenital, type IV;Blood group--Lutheran inhibitor;[Hereditary persistence of fetal hemoglobin] | AD |
KLHL40 | 615340 | Nemaline myopathy 8, AR | AR |
KLHL41 | 607701 | Nemaline myopathy 9 | AR |
KLHL7 | 611119 | PERCHING syndrome;Retinitis pigmentosa 42 | AR, AD |
KRAS | 190070 | Arteriovenous malformation of the brain, somatic;Gastric cancer, somatic;Oculoectodermal syndrome, somatic;RAS-associated autoimmune leukoproliferative disorder;Pancreatic carcinoma, somatic;Lung cancer, somatic;Cardiofaciocutaneous syndrome 2;Bladder cancer, somatic;Leukemia, acute myeloid, somatic;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Breast cancer, somatic;Noonan syndrome 3 | AD |
KRT5 | 148040 | Epidermolysis bullosa simplex-MP;Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex, recessive 1;Epidermolysis bullosa simplex, Weber-Cockayne type;Epidermolysis bullosa simplex 2B, generalized intermediate;Epidermolysis bullosa simplex 2A, generalized severe;Epidermolysis bullosa simplex-MCR;Dowling-Degos disease 1;Epidermolysis bullosa simplex 2C, localized;Epidermolysis bullosa simplex, Dowling-Meara type;Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, AR | AD, AR |
LAMA2 | 156225 | Muscular dystrophy, congenital, merosin deficient or partially deficient;Muscular dystrophy, limb-girdle, autosomal recessive 23 | AR |
LAMA3 | 600805 | Laryngoonychocutaneous syndrome;Epidermolysis bullosa, junctional, Herlitz type;Epidermolysis bullosa, generalized atrophic benign | AR |
LAMB3 | 150310 | Epidermolysis bullosa, junctional, non-Herlitz type;Amelogenesis imperfecta, type IA;Epidermolysis bullosa, junctional, Herlitz type | AR, AD |
LAMC2 | 150292 | Epidermolysis bullosa, junctional, non-Herlitz type;Epidermolysis bullosa, junctional, Herlitz type | AR |
LAMP2 | 309060 | Danon disease | XLD |
LAMTOR2 | 610389 | Immunodeficiency due to defect in MAPBP-interacting protein | AR |
LARS2 | 604544 | ?Hydrops, lactic acidosis, and sideroblastic anemia;Perrault syndrome 4 | AR |
LAS1L | 300964 | Wilson-Turner syndrome | XLR |
LCT | 603202 | Lactase deficiency, congenital | AR |
LHX3 | 600577 | Pituitary hormone deficiency, combined, 3 | AR |
LHX4 | 602146 | Pituitary hormone deficiency, combined, 4 | AD |
LIAS | 607031 | Hyperglycinemia, lactic acidosis, and seizures | AR |
LIG4 | 601837 | Multiple myeloma, resistance to;LIG4 syndrome | SM, AR |
LIPA | 613497 | Wolman disease;Cholesteryl ester storage disease | AR |
LIPN | 613924 | Ichthyosis, congenital, autosomal recessive 8 | AR |
LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
LMBRD1 | 612625 | Methylmalonic aciduria and homocystinuria, cblF type | AR |
LMNA | 150330 | Malouf syndrome;Emery-Dreifuss muscular dystrophy 3, AR;Emery-Dreifuss muscular dystrophy 2, AD;Hutchinson-Gilford progeria;Muscular dystrophy, congenital;Restrictive dermopathy, lethal;Lipodystrophy, familial partial, type 2;Charcot-Marie-Tooth disease, type 2B1;Mandibuloacral dysplasia;Cardiomyopathy, dilated, 1A;Heart-hand syndrome, Slovenian type | AD, AR |
LPIN1 | 605518 | Myoglobinuria, acute recurrent, AR | AR |
LRBA | 606453 | Immunodeficiency, common variable, 8, with autoimmunity | AR |
LRPPRC | 607544 | MT complex IV deficiency, nuclear type 5, (French-Canadian) | AR |
LRRC8A | 608360 | ?Agammaglobulinemia 5 | AD |
MAGEL2 | 605283 | Schaaf-Yang syndrome | AD |
MAGT1 | 300715 | Congenital disorder of glycosylation, type Icc;Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia | XLR |
MALT1 | 604860 | Immunodeficiency 12 | AR |
MAN2B1 | 609458 | Mannosidosis, alpha-, types I and II | AR |
MANBA | 609489 | Mannosidosis, beta | AR |
MAP2K1 | 176872 | Cardiofaciocutaneous syndrome 3;Melorheostosis, isolated, somatic mosaic | AD |
MAP2K2 | 601263 | Cardiofaciocutaneous syndrome 4 | AD |
MAT1A | 610550 | Methionine adenosyltransferase deficiency, AR;Hypermethioninemia, persistent, AD, due to methionine adenosyltransferase I/III deficiency | AD, AR |
MCCC1 | 609010 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
MCCC2 | 609014 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | AR |
MCEE | 608419 | Methylmalonyl-CoA epimerase deficiency | AR |
MCM4 | 602638 | Immunodeficiency 54 | AR |
MCPH1 | 607117 | Microcephaly 1, primary, AR | AR |
MECP2 | 300005 | Rett syndrome, preserved speech variant;Encephalopathy, neonatal severe;Mental retardation, X-linked, syndromic 13;Rett syndrome;Mental retardation, X-linked syndromic, Lubs type;Rett syndrome, atypical;Autism susceptibility, X-linked 3 | XLD, XLR, XL |
MED12 | 300188 | Opitz-Kaveggia syndrome;Lujan-Fryns syndrome;Ohdo syndrome, X-linked;Hardikar syndrome | XLR, XLD |
MEF2C | 600662 | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations;Chromosome 5q14.3 deletion syndrome | AD |
MEGF10 | 612453 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant | AR |
MFN2 | 608507 | Hereditary motor and sensory neuropathy VIA;Charcot-Marie-Tooth disease, axonal, type 2A2B;Charcot-Marie-Tooth disease, axonal, type 2A2A | AD, AR |
MFSD8 | 611124 | Ceroid lipofuscinosis, neuronal, 7;Macular dystrophy with central cone involvement | AR |
MITF | 156845 | Melanoma, cutaneous malignant, susceptibility to, 8;Waardenburg syndrome, type 2A;Waardenburg syndrome/ocular albinism, digenic;Tietz albinism-deafness syndrome;COMMAD syndrome | AD, AR |
MKKS | 604896 | McKusick-Kaufman syndrome;Bardet-Biedl syndrome 6 | AR |
MLC1 | 605908 | Megalencephalic leukoencephalopathy with subcortical cysts | AR |
MLYCD | 606761 | Malonyl-CoA decarboxylase deficiency | AR |
MMAA | 607481 | Methylmalonic aciduria, vitamin B12-responsive | AR |
MMAB | 607568 | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type | AR |
MMACHC | 609831 | Methylmalonic aciduria and homocystinuria, cblC type | AR |
MMADHC | 611935 | Methylmalonic aciduria and homocystinuria, cblD type;Methylmalonic aciduria, cblD type, variant 2;Homocystinuria, cblD type, variant 1 | AR |
MMUT | 609058 | Methylmalonic aciduria, mut(0) type | AR |
MOCS1 | 603707 | Molybdenum cofactor deficiency A | AR |
MOCS2 | 603708 | Molybdenum cofactor deficiency B | AR |
MPC1 | 614738 | MT pyruvate carrier deficiency | AR |
MPI | 154550 | Congenital disorder of glycosylation, type Ib | AR |
MPL | 159530 | Myelofibrosis with myeloid metaplasia, somatic;Thrombocytopenia, congenital amegakaryocytic;Thrombocythemia 2 | AR, AD, SM |
MPV17 | 137960 | Charcot-Marie-Tooth disease, axonal, type 2EE;MT DNA depletion syndrome 6 (hepatocerebral type) | AR |
MPZ | 159440 | Charcot-Marie-Tooth disease, type 2I;Dejerine-Sottas disease;Hypomyelinating neuropathy, congenital, 2;Charcot-Marie-Tooth disease, type 2J;Charcot-Marie-Tooth disease, dominant intermediate D;Charcot-Marie-Tooth disease, type 1B;Roussy-Levy syndrome | AD, AD, AR |
MRPL3 | 607118 | Combined oxidative phosphorylation deficiency 9 | AR |
MRPL44 | 611849 | ?Combined oxidative phosphorylation deficiency 16 | AR |
MSMO1 | 607545 | Microcephaly, congenital cataract, and psoriasiform dermatitis | AR |
MTHFR | 607093 | Neural tube defects, susceptibility to;Homocystinuria due to MTHFR deficiency;Schizophrenia, susceptibility to;Thromboembolism, susceptibility to | AR, AD |
MTM1 | 300415 | Myotubular myopathy, XL | XLR |
MTMR14 | 611089 | Centronuclear myopathy, autosomal, modifier of | AD |
MTO1 | 614667 | Combined oxidative phosphorylation deficiency 10 | AR |
MTR | 156570 | Neural tube defects, folate-sensitive, susceptibility to;Homocystinuria-megaloblastic anemia, cblG complementation type | AR |
MTRFR | 613541 | Spastic paraplegia 55, AR;Combined oxidative phosphorylation deficiency 7 | AR |
MTRR | 602568 | Homocystinuria-megaloblastic anemia, cbl E type;Neural tube defects, folate-sensitive, susceptibility to | AR |
MUSK | 601296 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Fetal akinesia deformation sequence 1 | AR |
MVK | 251170 | Mevalonic aciduria;Hyper-IgD syndrome;Porokeratosis 3, multiple types | AR, AD |
MYCN | 164840 | Feingold syndrome 1 | AD |
MYH9 | 160775 | Deafness, AD 17;Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | AD |
NAA10 | 300013 | Ogden syndrome;Microphthalmia, syndromic 1 | XLD, XLR, XL |
NAGA | 104170 | Schindler disease, type III;Kanzaki disease;Schindler disease, type I | AR |
NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
NALCN | 611549 | Congenital contractures of the limbs and face, hypotonia, and developmental delay;Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | AD, AR |
NARS2 | 612803 | ?Deafness, autosomal recessive 94;Combined oxidative phosphorylation deficiency 24 | AR |
NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly;Infantile liver failure syndrome 2 | AR |
NDUFA1 | 300078 | MT complex I deficiency, nuclear type 12 | XLR |
NDUFA10 | 603835 | MT complex I deficiency, nuclear type 22 | AR |
NDUFA11 | 612638 | MT complex I deficiency, nuclear type 14 | AR |
NDUFA2 | 602137 | MT complex I deficiency, nuclear type 13 | AR |
NDUFA9 | 603834 | MT complex I deficiency, nuclear type 26 | AR |
NDUFAF1 | 606934 | MT complex I deficiency, nuclear type 11 | AR |
NDUFAF2 | 609653 | MT complex I deficiency, nuclear type 10 | AR |
NDUFAF3 | 612911 | MT complex I deficiency, nuclear type 18 | AR |
NDUFAF4 | 611776 | MT complex I deficiency, nuclear type 15 | AR |
NDUFAF5 | 612360 | MT complex I deficiency, nuclear type 16 | AR |
NDUFAF6 | 612392 | MT complex I deficiency, nuclear type 17;Fanconi renotubular syndrome 5 | AR |
NDUFB3 | 603839 | MT complex I deficiency, nuclear type 25 | AR |
NDUFB9 | 601445 | ?MT complex I deficiency, nuclear type 24 | AR |
NDUFS1 | 157655 | MT complex I deficiency, nuclear type 5 | AR |
NDUFS2 | 602985 | MT complex I deficiency, nuclear type 6 | AR |
NDUFS3 | 603846 | MT complex I deficiency, nuclear type 8 | AR |
NDUFS4 | 602694 | MT complex I deficiency, nuclear type 1 | AR |
NDUFS6 | 603848 | MT complex I deficiency, nuclear type 9 | AR |
NDUFS7 | 601825 | MT complex I deficiency, nuclear type 3 | AR |
NDUFV1 | 161015 | MT complex I deficiency, nuclear type 4 | AR |
NDUFV2 | 600532 | MT complex I deficiency, nuclear type 7 | AR |
NEB | 161650 | Nemaline myopathy 2, AR;Arthrogryposis multiplex congenita 6 | AR |
NEU1 | 608272 | Sialidosis, type I;Sialidosis, type II | AR |
NEUROG3 | 604882 | Diarrhea 4, malabsorptive, congenital | AR |
NEXN | 613121 | Cardiomyopathy, hypertrophic, 20;Cardiomyopathy, dilated, 1CC | AD |
NFKB2 | 164012 | Immunodeficiency, common variable, 10 | AD |
NFU1 | 608100 | Multiple MT dysfunctions syndrome 1 | AR |
NGF | 162030 | Neuropathy, hereditary sensory and autonomic, type V | AR |
NGLY1 | 610661 | Congenital disorder of deglycosylation | AR |
NHEJ1 | 611290 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | |
NIPAL4 | 609383 | Ichthyosis, congenital, autosomal recessive 6 | AR |
NIPBL | 608667 | Cornelia de Lange syndrome 1 | AD |
NKX2-1 | 600635 | Chorea, hereditary benign;Choreoathetosis, hypothyroidism, and neonatal respiratory distress;Thyroid cancer, nonmedullary, 1 | AD |
NKX2-5 | 600584 | Hypoplastic left heart syndrome 2;Hypothyroidism, congenital nongoitrous, 5;Atrial septal defect 7, with or without AV conduction defects;Conotruncal heart malformations, variable;Ventricular septal defect 3;Tetralogy of Fallot | AD |
NLRC4 | 606831 | Autoinflammation with infantile enterocolitis;?Familial cold autoinflammatory syndrome 4 | AD |
NLRP3 | 606416 | CINCA syndrome;Deafness, AD 34, with or without inflammation;Keratoendothelitis fugax hereditaria;Familial cold inflammatory syndrome 1;Muckle-Wells syndrome | AD |
NOTCH2 | 600275 | Alagille syndrome 2;Hajdu-Cheney syndrome | AD |
NPC1 | 607623 | Niemann-Pick disease, type C1;Niemann-Pick disease, type D | AR |
NPC2 | 601015 | Niemann-pick disease, type C2 | AR |
NPHP1 | 607100 | Joubert syndrome 4;Nephronophthisis 1, juvenile;Senior-Loken syndrome-1 | AR |
NPHP3 | 608002 | Nephronophthisis 3;Meckel syndrome 7;Renal-hepatic-pancreatic dysplasia 1 | AR |
NR0B1 | 300473 | Adrenal hypoplasia, congenital;46XY sex reversal 2, dosage-sensitive | XLR, XL |
NR3C2 | 600983 | Hypertension, early-onset, AD, with exacerbation in pregnancy;Pseudohypoaldosteronism type I, AD | AD |
NRAS | 164790 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Colorectal cancer, somatic;Neurocutaneous melanosis, somatic;?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic;Noonan syndrome 6;Melanocytic nevus syndrome, congenital, somatic;Thyroid carcinoma, follicular, somatic;Epidermal nevus, somatic | AD |
NSD1 | 606681 | Sotos syndrome 1 | AD |
NSDHL | 300275 | CK syndrome;CHILD syndrome | XLR, XLD |
NUBPL | 613621 | MT complex I deficiency, nuclear type 21 | AR |
OAT | 613349 | Gyrate atrophy of choroid and retina with or without ornithinemia | AR |
OCLN | 602876 | Pseudo-TORCH syndrome 1 | AR |
OCRL | 300535 | Lowe syndrome;Dent disease 2 | XLR |
ODAD1 | 615038 | Ciliary dyskinesia, primary, 20 | AR |
OPA3 | 606580 | 3-methylglutaconic aciduria, type III;Optic atrophy 3 with cataract | AR, AD |
OPHN1 | 300127 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | XLR |
ORC1 | 601902 | Meier-Gorlin syndrome 1 | AR |
ORC4 | 603056 | Meier-Gorlin syndrome 2 | AR |
OTC | 300461 | Ornithine transcarbamylase deficiency | XL |
OTX2 | 600037 | Retinal dystrophy, early-onset, with or without pituitary dysfunction;Microphthalmia, syndromic 5;Pituitary hormone deficiency, combined, 6 | AD |
OXCT1 | 601424 | Succinyl CoA:3-oxoacid CoA transferase deficiency | AR |
PAFAH1B1 | 601545 | Subcortical laminar heterotopia;Lissencephaly 1 | AD |
PAH | 612349 | Phenylketonuria;[Hyperphenylalaninemia, non-PKU mild] | AR |
PAX2 | 167409 | Glomerulosclerosis, focal segmental, 7;Papillorenal syndrome | AD |
PAX3 | 606597 | Waardenburg syndrome, type 3;Rhabdomyosarcoma 2, alveolar;Craniofacial-deafness-hand syndrome;Waardenburg syndrome, type 1 | AD, AR, SM, AD |
PAX6 | 607108 | ?Coloboma, ocular;Aniridia;?Morning glory disc anomaly;Keratitis;Optic nerve hypoplasia;?Coloboma of optic nerve;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy;Foveal hypoplasia 1 | AD |
PAX8 | 167415 | Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | AD |
PC | 608786 | Pyruvate carboxylase deficiency | AR |
PCBD1 | 126090 | Hyperphenylalaninemia, BH4-deficient, D | AR |
PCCA | 232000 | Propionicacidemia | AR |
PCCB | 232050 | Propionicacidemia | AR |
PCDH19 | 300460 | Developmental and epileptic encephalopathy 9 | XL |
PCNT | 605925 | Microcephalic osteodysplastic primordial dwarfism, type II | AR |
PDCD10 | 609118 | Cerebral cavernous malformations 3 | AD |
PDE10A | 610652 | Dyskinesia, limb and orofacial, infantile-onset;Striatal degeneration, AD | AR, AD |
PDHA1 | 300502 | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | AR |
PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
PDP1 | 605993 | Pyruvate dehydrogenase phosphatase deficiency | AR |
PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
PDX1 | 600733 | Pancreatic agenesis 1;MODY, type IV;Diabetes mellitus, type II, susceptibility to | AR, AD |
PEPD | 613230 | Prolidase deficiency | AR |
PEX1 | 602136 | Peroxisome biogenesis disorder 1A (Zellweger);Peroxisome biogenesis disorder 1B (NALD/IRD);Heimler syndrome 1 | AR |
PEX10 | 602859 | Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B | AR |
PEX12 | 601758 | Peroxisome biogenesis disorder 3B;Peroxisome biogenesis disorder 3A (Zellweger) | AR |
PEX13 | 601789 | Peroxisome biogenesis disorder 11B;Peroxisome biogenesis disorder 11A (Zellweger) | AR |
PEX14 | 601791 | Peroxisome biogenesis disorder 13A (Zellweger) | AR |
PEX16 | 603360 | Peroxisome biogenesis disorder 8A (Zellweger);Peroxisome biogenesis disorder 8B | AR |
PEX19 | 600279 | Peroxisome biogenesis disorder 12A (Zellweger) | AR |
PEX2 | 170993 | Peroxisome biogenesis disorder 5B;Peroxisome biogenesis disorder 5A (Zellweger) | AR |
PEX26 | 608666 | Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B | AR |
PEX3 | 603164 | Peroxisome biogenesis disorder 10A (Zellweger);?Peroxisome biogenesis disorder 10B | AR |
PEX5 | 600414 | Rhizomelic chondrodysplasia punctata, type 5;Peroxisome biogenesis disorder 2B;Peroxisome biogenesis disorder 2A (Zellweger) | AR |
PEX6 | 601498 | Peroxisome biogenesis disorder 4B;Peroxisome biogenesis disorder 4A (Zellweger);Heimler syndrome 2 | AD, AR, AR |
PEX7 | 601757 | Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata, type 1 | AR |
PGAP1 | 611655 | Mental retardation, autosomal recessive 42 | AR |
PGM1 | 171900 | Congenital disorder of glycosylation, type It | AR |
PHGDH | 606879 | Phosphoglycerate dehydrogenase deficiency;Neu-Laxova syndrome 1 | AR |
PHKG2 | 172471 | Glycogen storage disease IXc | AR |
PHOX2B | 603851 | Central hypoventilation syndrome, congenital, with or without Hirschsprung disease;Neuroblastoma, susceptibility to, 2;Neuroblastoma with Hirschsprung disease | AD |
PIGA | 311770 | Paroxysmal nocturnal hemoglobinuria, somatic;Multiple congenital anomalies-hypotonia-seizures syndrome 2 | XLR |
PIGN | 606097 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | AR |
PIGT | 610272 | Multiple congenital anomalies-hypotonia-seizures syndrome 3;?Paroxysmal nocturnal hemoglobinuria 2 | AR, AD, SM |
PIGV | 610274 | Hyperphosphatasia with mental retardation syndrome 1 | AR |
PIK3CD | 602839 | Immunodeficiency 14;?Roifman-Chitayat syndrome, digenic;Immunodeficiency 14B, AR | AD, DR, AR |
PKD2 | 173910 | Polycystic kidney disease 2 | AD |
PKHD1 | 606702 | Polycystic kidney disease 4, with or without hepatic disease | AR |
PKLR | 609712 | Adenosine triphosphate, elevated, of erythrocytes;Pyruvate kinase deficiency | AD, AR |
PLCB4 | 600810 | Auriculocondylar syndrome 2 | AD, AR |
PLEC | 601282 | Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with muscular dystrophy;?Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Muscular dystrophy, limb-girdle, autosomal recessive 17 | AD, AR |
PLOD1 | 153454 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | AR |
PLP1 | 300401 | Pelizaeus-Merzbacher disease;Spastic paraplegia 2, XL | XLR |
PMM2 | 601785 | Congenital disorder of glycosylation, type Ia | AR |
PMP22 | 601097 | Neuropathy, recurrent, with pressure palsies;Dejerine-Sottas disease;Roussy-Levy syndrome;?Neuropathy, inflammatory demyelinating;Charcot-Marie-Tooth disease, type 1E;Charcot-Marie-Tooth disease, type 1A | AD, AD, AR, ?AD |
PNKP | 605610 | Ataxia-oculomotor apraxia 4;Microcephaly, seizures, and developmental delay;?Charcot-Marie-Tooth disease, type 2B2 | AR |
PNP | 164050 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | AR |
PNPLA1 | 612121 | Ichthyosis, congenital, autosomal recessive 10 | AR |
PNPO | 603287 | Pyridoxamine 5'-phosphate oxidase deficiency | AR |
PNPT1 | 610316 | Deafness, autosomal recessive 70;Combined oxidative phosphorylation deficiency 13 | AR |
POGZ | 614787 | White-Sutton syndrome | AD |
POLG | 174763 | Progressive external ophthalmoplegia, autosomal recessive 1;Progressive external ophthalmoplegia, AD 1;MT recessive ataxia syndrome (includes SANDO and SCAE);MT DNA depletion syndrome 4B (MNGIE type);MT DNA depletion syndrome 4A (Alpers type) | AR, AD |
POLG2 | 604983 | MT DNA depletion syndrome 16 (hepatic type);?MT DNA depletion syndrome 16B (neuroophthalmic type);Progressive external ophthalmoplegia with MT DNA deletions, AD 4 | AR, AD |
POMGNT1 | 606822 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3;Retinitis pigmentosa 76 | AR |
POMGNT2 | 614828 | Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 | AR |
POMK | 615247 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12;?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | AR |
POMT1 | 607423 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 | AR |
POMT2 | 607439 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | AR |
POU1F1 | 173110 | Pituitary hormone deficiency, combined, 1 | AD, AR |
PPT1 | 600722 | Ceroid lipofuscinosis, neuronal, 1 | AR |
PRDM16 | 605557 | Cardiomyopathy, dilated, 1LL;Left ventricular noncompaction 8 | AD |
PRKAG2 | 602743 | Glycogen storage disease of heart, lethal congenital;Cardiomyopathy, hypertrophic 6;Wolff-Parkinson-White syndrome | AD |
PRKAR1A | 188830 | Myxoma, intracardiac;Pigmented nodular adrenocortical disease, primary, 1;Carney complex, type 1;Acrodysostosis 1, with or without hormone resistance | AD |
PROC | 612283 | Thrombophilia due to protein C deficiency, AD;Thrombophilia due to protein C deficiency, AR | AD, AR |
PRODH | 606810 | Schizophrenia, susceptibility to, 4;Hyperprolinemia, type I | AD, AR |
PROP1 | 601538 | Pituitary hormone deficiency, combined, 2 | AR |
PROS1 | 176880 | Thrombophilia due to protein S deficiency, AR;Thrombophilia due to protein S deficiency, AD | AR, AD |
PRPS1 | 311850 | Charcot-Marie-Tooth disease, XLR, 5;Deafness, X-linked 1;Phosphoribosylpyrophosphate synthetase superactivity;Arts syndrome;Gout, PRPS-related | XLR, XL |
PRRT2 | 614386 | Episodic kinesigenic dyskinesia 1;Convulsions, familial infantile, with paroxysmal choreoathetosis;Seizures, benign familial infantile, 2 | AD |
PSAP | 176801 | Combined SAP deficiency;Gaucher disease, atypical;Krabbe disease, atypical;Parkinson disease 24, AD, susceptibility to;Metachromatic leukodystrophy due to SAP-b deficiency | AR, AD |
PSAT1 | 610936 | Neu-Laxova syndrome 2;?Phosphoserine aminotransferase deficiency | AR |
PSPH | 172480 | Phosphoserine phosphatase deficiency | AR |
PTPN11 | 176876 | Leukemia, juvenile myelomonocytic, somatic;LEOPARD syndrome 1;Metachondromatosis;Noonan syndrome 1 | AD |
PTPRC | 151460 | Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive;Hepatitis C virus, susceptibility to | AR |
PTRH2 | 608625 | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease | AR |
PTS | 612719 | Hyperphenylalaninemia, BH4-deficient, A | AR |
PURA | 600473 | Mental retardation, AD 31 | AD |
QDPR | 612676 | Hyperphenylalaninemia, BH4-deficient, C | AR |
RAB18 | 602207 | Warburg micro syndrome 3 | AR |
RAB3GAP1 | 602536 | Martsolf syndrome 2;Warburg micro syndrome 1 | AR |
RAB3GAP2 | 609275 | Warburg micro syndrome 2;Martsolf syndrome | AR |
RAC2 | 602049 | ?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia;Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis;Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia | AR, AD |
RAF1 | 164760 | Noonan syndrome 5;LEOPARD syndrome 2;Cardiomyopathy, dilated, 1NN | AD |
RAG1 | 179615 | Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity;Omenn syndrome;Severe combined immunodeficiency, B cell-negative;Combined cellular and humoral immune defects with granulomas | AR |
RAG2 | 179616 | Omenn syndrome;Combined cellular and humoral immune defects with granulomas;Severe combined immunodeficiency, B cell-negative | AR |
RANBP2 | 601181 | Encephalopathy, acute, infection-induced, 3, susceptibility to | AD |
RAPSN | 601592 | Fetal akinesia deformation sequence 2;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | AR |
RARS2 | 611524 | Pontocerebellar hypoplasia, type 6 | AR |
RB1 | 614041 | Bladder cancer, somatic;Retinoblastoma, trilateral;Small cell cancer of the lung, somatic;Osteosarcoma, somatic;Retinoblastoma | AD, SM |
RBBP8 | 604124 | Seckel syndrome 2;Jawad syndrome | AR |
RBM8A | 605313 | Thrombocytopenia-absent radius syndrome | AR |
RET | 164761 | Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia IIA;Medullary thyroid carcinoma;Pheochromocytoma;Multiple endocrine neoplasia IIB;Hirschsprung disease, protection against;Central hypoventilation syndrome, congenital | AD |
RFT1 | 611908 | Congenital disorder of glycosylation, type In | AR |
RFX5 | 601863 | Bare lymphocyte syndrome, type II, complementation group E;Bare lymphocyte syndrome, type II, complementation group C | AR |
RFX6 | 612659 | Mitchell-Riley syndrome | AR |
RIT1 | 609591 | Noonan syndrome 8 | AD |
RMND1 | 614917 | Combined oxidative phosphorylation deficiency 11 | AR |
RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
RNASET2 | 612944 | Leukoencephalopathy, cystic, without megalencephaly | AR |
RORC | 602943 | Immunodeficiency 42 | AR |
RPS19 | 603474 | Diamond-Blackfan anemia 1 | AD |
RRM2B | 604712 | MT DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy);Progressive external ophthalmoplegia with MT DNA deletions, AD 5;MT DNA depletion syndrome 8B (MNGIE type) | AR, AD |
RXYLT1 | 605862 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 | AR |
RYR1 | 180901 | Malignant hyperthermia susceptibility 1;King-Denborough syndrome;Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Minicore myopathy with external ophthalmoplegia | AD, AD, AR, AR |
SALL1 | 602218 | Townes-Brocks branchiootorenal-like syndrome;Townes-Brocks syndrome 1 | AD |
SATB2 | 608148 | Glass syndrome | AD |
SBDS | 607444 | Aplastic anemia, susceptibility to;Shwachman-Diamond syndrome | AR |
SCN1A | 182389 | Epilepsy, generalized, with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Developmental and epileptic encephalopathy 6B, non-Dravet;Febrile seizures, familial, 3A;Dravet syndrome | AD |
SCN2A | 182390 | Developmental and epileptic encephalopathy 11;Seizures, benign familial infantile, 3;Episodic ataxia, type 9 | AD |
SCN4A | 603967 | Paramyotonia congenita;Myotonia congenita, atypical, acetazolamide-responsive;Myasthenic syndrome, congenital, 16;Hyperkalemic periodic paralysis, type 2;Hypokalemic periodic paralysis, type 2 | AD, AR |
SCN5A | 600163 | Heart block, nonprogressive;Ventricular fibrillation, familial, 1;Sick sinus syndrome 1;Brugada syndrome 1;Heart block, progressive, type IA;Atrial fibrillation, familial, 10;Long QT syndrome 3;Cardiomyopathy, dilated, 1E;Sudden infant death syndrome, susceptibility to | AD, AR |
SCN9A | 603415 | Erythermalgia, primary;Generalized epilepsy with febrile seizures plus, type 7;Febrile seizures, familial, 3B;Neuropathy, hereditary sensory and autonomic, type IID;Insensitivity to pain, congenital;Paroxysmal extreme pain disorder;Small fiber neuropathy | AD, AR |
SCO1 | 603644 | MT complex IV deficiency, nuclear type 4 | AR |
SCO2 | 604272 | Myopia 6;MT complex IV deficiency, nuclear type 2 | AD, AR |
SDHA | 600857 | Neurodegeneration with ataxia and late-onset optic atrophy;Cardiomyopathy, dilated, 1GG;Leigh syndrome;MT respiratory chain complex II deficiency;Paragangliomas 5 | AD, AR, AR, MT |
SDHAF1 | 612848 | MT complex II deficiency, nuclear type 2;MT complex II deficiency | AR |
SECISBP2 | 607693 | Thyroid hormone metabolism, abnormal | AR |
SELENON | 606210 | Muscular dystrophy, rigid spine, 1;Myopathy, congenital, with fiber-type disproportion | AR, AD, AR |
SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | AR |
SERPINC1 | 107300 | Thrombophilia due to antithrombin III deficiency | AD, AR |
SERPING1 | 606860 | Complement component 4, partial deficiency of;Angioedema, hereditary, types I and II | AD, AD, AR |
SFTPB | 178640 | Surfactant metabolism dysfunction, pulmonary, 1 | AR |
SFTPC | 178620 | Surfactant metabolism dysfunction, pulmonary, 2 | AD |
SHOC2 | 602775 | Noonan syndrome-like with loose anagen hair 1 | AD |
SIL1 | 608005 | Marinesco-Sjogren syndrome | AR |
SIX3 | 603714 | Holoprosencephaly 2;Schizencephaly | AD |
SIX5 | 600963 | Branchiootorenal syndrome 2 | |
SKI | 164780 | Shprintzen-Goldberg syndrome | AD |
SLC12A6 | 604878 | Agenesis of the corpus callosum with peripheral neuropathy | AR |
SLC16A1 | 600682 | Hyperinsulinemic hypoglycemia, familial, 7;Erythrocyte lactate transporter defect;Monocarboxylate transporter 1 deficiency | AD, AD, AR |
SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
SLC17A5 | 604322 | Sialic acid storage disorder, infantile;Salla disease | AR |
SLC19A2 | 603941 | Thiamine-responsive megaloblastic anemia syndrome | AR |
SLC19A3 | 606152 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | AR |
SLC22A5 | 603377 | Carnitine deficiency, systemic primary | AR |
SLC25A1 | 190315 | Myasthenic syndrome, congenital, 23, presynaptic;Combined D-2- and L-2-hydroxyglutaric aciduria | AR |
SLC25A12 | 603667 | Developmental and epileptic encephalopathy 39 | AR |
SLC25A13 | 603859 | Citrullinemia, type II, neonatal-onset;Citrullinemia, adult-onset type II | AR |
SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
SLC25A19 | 606521 | Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type);Microcephaly, Amish type | AR |
SLC25A20 | 613698 | Carnitine-acylcarnitine translocase deficiency | AR |
SLC25A22 | 609302 | Developmental and epileptic encephalopathy 3 | AR |
SLC25A3 | 600370 | MT phosphate carrier deficiency | AR |
SLC26A2 | 606718 | Diastrophic dysplasia, broad bone-platyspondylic variant;Achondrogenesis Ib;Epiphyseal dysplasia, multiple, 4;De la Chapelle dysplasia;Diastrophic dysplasia;Atelosteogenesis, type II | AR |
SLC26A3 | 126650 | Diarrhea 1, secretory chloride, congenital | AR |
SLC26A4 | 605646 | Pendred syndrome;Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | AR |
SLC2A1 | 138140 | GLUT1 deficiency syndrome 2, childhood onset;GLUT1 deficiency syndrome 1, infantile onset, severe;Epilepsy, idiopathic generalized, susceptibility to, 12;Stomatin-deficient cryohydrocytosis with neurologic defects;Dystonia 9 | AD, AD, AR |
SLC30A2 | 609617 | Zinc deficiency, transient neonatal | AD |
SLC33A1 | 603690 | Congenital cataracts, hearing loss, and neurodegeneration;Spastic paraplegia 42, AD | AR, AD |
SLC3A1 | 104614 | Cystinuria | AD, AR |
SLC4A1 | 109270 | [Blood group, Wright];Distal renal tubular acidosis 1;Ovalocytosis, SA type;[Malaria, resistance to];[Blood group, Swann];[Blood group, Froese];[Blood group, Waldner];Cryohydrocytosis;[Blood group, Diego];Distal renal tubular acidosis 4 with hemolytic anemia;Spherocytosis, type 4 | AD, AR |
SLC52A1 | 607883 | Riboflavin deficiency | AD |
SLC52A3 | 613350 | ?Fazio-Londe disease;Brown-Vialetto-Van Laere syndrome 1 | AR |
SLC5A1 | 182380 | Glucose/galactose malabsorption | AR |
SLC5A5 | 601843 | Thyroid dyshormonogenesis 1 | AR |
SLC6A1 | 137165 | Myoclonic-atonic epilepsy | AD |
SLC6A3 | 126455 | Nicotine dependence, protection against;Parkinsonism-dystonia, infantile, 1 | AR |
SLC6A5 | 604159 | Hyperekplexia 3 | AD, AR |
SLC7A7 | 603593 | Lysinuric protein intolerance | AR |
SLC7A9 | 604144 | Cystinuria | AD, AR |
SLCO1B1 | 604843 | Hyperbilirubinemia, Rotor type, digenic | DR |
SLCO1B3 | 605495 | Hyperbilirubinemia, Rotor type, digenic | DR |
SMPD1 | 607608 | Niemann-Pick disease, type A;Niemann-Pick disease, type B | AR |
SNAI2 | 602150 | Waardenburg syndrome, type 2D;Piebaldism | AR, AD |
SNX10 | 614780 | Osteopetrosis, autosomal recessive 8 | AR |
SOS1 | 182530 | Noonan syndrome 4;?Fibromatosis, gingival, 1 | AD |
SOX10 | 602229 | Waardenburg syndrome, type 4C;PCWH syndrome;Waardenburg syndrome, type 2E, with or without neurologic involvement | AD |
SOX2 | 184429 | Microphthalmia, syndromic 3;Optic nerve hypoplasia and abnormalities of the central nervous system | AD |
SOX9 | 608160 | Acampomelic campomelic dysplasia;Campomelic dysplasia;Campomelic dysplasia with autosomal sex reversal | AD |
SPAST | 604277 | Spastic paraplegia 4, AD | AD |
SPEG | 615950 | Centronuclear myopathy 5 | AR |
SPINK5 | 605010 | Netherton syndrome | AR |
SPINT2 | 605124 | Diarrhea 3, secretory sodium, congenital, syndromic | AR |
SPR | 182125 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
SPRED1 | 609291 | Legius syndrome | AD |
SPTA1 | 182860 | Pyropoikilocytosis;Elliptocytosis-2;Spherocytosis, type 3 | AR, AD |
SPTAN1 | 182810 | Developmental and epileptic encephalopathy 5 | AD |
SPTB | 182870 | Spherocytosis, type 2;Elliptocytosis-3;Anemia, neonatal hemolytic, fatal or near-fatal | AD |
SRD5A3 | 611715 | Congenital disorder of glycosylation, type Iq;Kahrizi syndrome | AR |
ST3GAL3 | 606494 | ?Developmental and epileptic encephalopathy 15;Mental retardation, autosomal recessive 12 | AR |
ST3GAL5 | 604402 | Salt and pepper developmental regression syndrome | AR |
STAR | 600617 | Lipoid adrenal hyperplasia | AR |
STAT1 | 600555 | Immunodeficiency 31C, chronic mucocutaneous candidiasis, AD;Immunodeficiency 31B, mycobacterial and viral infections, AR;Immunodeficiency 31A, mycobacteriosis, AD | AD, AR |
STAT3 | 102582 | Hyper-IgE recurrent infection syndrome;Autoimmune disease, multisystem, infantile-onset, 1 | AD |
STIL | 181590 | Microcephaly 7, primary, AR | AR |
STIM1 | 605921 | Myopathy, tubular aggregate, 1;Stormorken syndrome;Immunodeficiency 10 | AD, AR |
STING1 | 612374 | STING-associated vasculopathy, infantile-onset | AD |
STS | 300747 | Ichthyosis, XL | XLR |
STT3B | 608605 | ?Congenital disorder of glycosylation, type Ix | AR |
STXBP1 | 602926 | Developmental and epileptic encephalopathy 4 | AD |
SUCLA2 | 603921 | MT DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | AR |
SUCLG1 | 611224 | MT DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | AR |
SUMF1 | 607939 | Multiple sulfatase deficiency | AR |
SUOX | 606887 | Sulfite oxidase deficiency | AR |
SYNE1 | 608441 | Arthrogryposis multiplex congenita 3, myogenic type;Emery-Dreifuss muscular dystrophy 4, AD;Spinocerebellar ataxia, autosomal recessive 8 | AR, AD |
TACO1 | 612958 | MT complex IV deficiency, nuclear type 8 | AR |
TAFAZZIN | 300394 | Barth syndrome | XLR |
TAT | 613018 | Tyrosinemia, type II | AR |
TBC1D24 | 613577 | Deafness, AD 65;Deafness , autosomal recessive 86;Myoclonic epilepsy, infantile, familial;Developmental and epileptic encephalopathy 16;DOORS syndrome;Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp | AD, AR |
TBCE | 604934 | Hypoparathyroidism-retardation-dysmorphism syndrome;Encephalopathy, progressive, with amyotrophy and optic atrophy;Kenny-Caffey syndrome, type 1 | AR |
TBL1X | 300196 | Hypothyroidism, congenital, nongoitrous, 8 | XL |
TBX19 | 604614 | Adrenocorticotropic hormone deficiency | AR |
TBX5 | 601620 | Holt-Oram syndrome | AD |
TCAP | 604488 | Muscular dystrophy, limb-girdle, autosomal recessive 7;Cardiomyopathy, hypertrophic, 25 | AR, AD |
TCN2 | 613441 | Transcobalamin II deficiency | AR |
TFR2 | 604720 | Hemochromatosis, type 3 | AR |
TG | 188450 | Thyroid dyshormonogenesis 3;Autoimmune thyroid disease, susceptibility to, 3 | AR |
TGM1 | 190195 | Ichthyosis, congenital, autosomal recessive 1 | AR |
TH | 191290 | Segawa syndrome, recessive | AR |
THRA | 190120 | Hypothyroidism, congenital, nongoitrous, 6 | AD |
THRB | 190160 | Thyroid hormone resistance, AR;Thyroid hormone resistance;Thyroid hormone resistance, selective pituitary | AR, AD |
TJP2 | 607709 | Hypercholanemia, familial;Cholestasis, progressive familial intrahepatic 4 | AR |
TMCO1 | 614123 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | AR |
TMEM165 | 614726 | Congenital disorder of glycosylation, type IIk | AR |
TMEM70 | 612418 | MT complex V (ATP synthase) deficiency, nuclear type 2 | AR |
TNFRSF13B | 604907 | Immunodeficiency, common variable, 2;Immunoglobulin A deficiency 2 | AD, AR |
TNFRSF13C | 606269 | Immunodeficiency, common variable, 4 | AR |
TNFSF4 | 603594 | Myocardial infarction, susceptibility to | |
TNNT1 | 191041 | Nemaline myopathy 5, Amish type | AR |
TP63 | 603273 | Rapp-Hodgkin syndrome;Orofacial cleft 8;Limb-mammary syndrome;Split-hand/foot malformation 4;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3;Hay-Wells syndrome;ADULT syndrome | AD |
TPM2 | 190990 | Arthrogryposis, distal, type 2B4;Arthrogryposis, distal, type 1A;CAP myopathy 2;Nemaline myopathy 4, AD | AD |
TPM3 | 191030 | Myopathy, congenital, with fiber-type disproportion;Nemaline myopathy 1, AD or recessive;CAP myopathy 1 | AD, AR |
TPO | 606765 | Thyroid dyshormonogenesis 2A | AR |
TPP1 | 607998 | Ceroid lipofuscinosis, neuronal, 2;Spinocerebellar ataxia, autosomal recessive 7 | AR |
TRH | 613879 | Thyrotropin-releasing hormone deficiency | AR |
TRHR | 188545 | Hypothyroidism, congenital, nongoitrous, 7 | AR |
TRIP11 | 604505 | Achondrogenesis, type IA;Osteochondrodysplasia | AR |
TRMU | 610230 | Liver failure, transient infantile;Deafness, MT, modifier of | AR, MT |
TRPV4 | 605427 | SED, Maroteaux type;Spondylometaphyseal dysplasia, Kozlowski type;Metatropic dysplasia;Brachyolmia type 3;Neuronopathy, distal hereditary motor, type VIII;[Sodium serum level QTL 1];?Avascular necrosis of femoral head, primary, 2;Scapuloperoneal spinal muscular atrophy;Parastremmatic dwarfism;Hereditary motor and sensory neuropathy, type IIc;Digital arthropathy-brachydactyly, familial | AD |
TSC1 | 605284 | Lymphangioleiomyomatosis;Focal cortical dysplasia, type II, somatic;Tuberous sclerosis-1 | AD |
TSC2 | 191092 | ?Focal cortical dysplasia, type II, somatic;Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2 | AD |
TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
TSHB | 188540 | Hypothyroidism, congenital, nongoitrous 4 | AR |
TSHR | 603372 | Hyperthyroidism, nonautoimmune;Hypothyroidism, congenital, nongoitrous, 1;Hyperthyroidism, familial gestational | AD, AR |
TSPYL1 | 604714 | Sudden infant death with dysgenesis of the testes syndrome | AR |
TTC7A | 609332 | Gastrointestinal defects and immunodeficiency syndrome | AR |
TTN | 188840 | Cardiomyopathy, dilated, 1G;Muscular dystrophy, limb-girdle, autosomal recessive 10;Tibial muscular dystrophy, tardive;Myopathy, myofibrillar, 9, with early respiratory failure;Salih myopathy;Cardiomyopathy, familial hypertrophic, 9 | AR, AD |
TUBA8 | 605742 | Cortical dysplasia, complex, with other brain malformations 8 | AR |
TUBB1 | 612901 | Macrothrombocytopenia, AD, TUBB1-related | AD |
TUBB2A | 615101 | Cortical dysplasia, complex, with other brain malformations 5 | AD |
TWNK | 606075 | Progressive external ophthalmoplegia with MT DNA deletions, AD 3;Perrault syndrome 5;MT DNA depletion syndrome 7 (hepatocerebral type) | AD, AR |
UBA1 | 314370 | VEXAS syndrome, somatic;Spinal muscular atrophy, X-linked 2, infantile | XLR |
UBR1 | 605981 | Johanson-Blizzard syndrome | AR |
UGT1A1 | 191740 | [Gilbert syndrome];Crigler-Najjar syndrome, type II;Crigler-Najjar syndrome, type I;Hyperbilirubinemia, familial transient neonatal;[Bilirubin, serum level of, QTL1] | AR |
UMPS | 613891 | Orotic aciduria | AR |
UNG | 191525 | Immunodeficiency with hyper IgM, type 5 | AR |
UPB1 | 606673 | Beta-ureidopropionase deficiency | AR |
UQCRC2 | 191329 | MT complex III deficiency, nuclear type 5 | AR |
UROD | 613521 | Porphyria, hepatoerythropoietic;Porphyria cutanea tarda | AD, AR |
UROS | 606938 | Porphyria, congenital erythropoietic | AR |
WAS | 300392 | Wiskott-Aldrich syndrome;Thrombocytopenia, X-linked;Neutropenia, severe congenital, X-linked;Thrombocytopenia, X-linked, intermittent | XLR |
WDPCP | 613580 | Congenital heart defects, hamartomas of tongue, and polysyndactyly;?Bardet-Biedl syndrome 15 | AR |
WDR62 | 613583 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | AR |
WDR73 | 616144 | Galloway-Mowat syndrome 1 | AR |
WFS1 | 606201 | ?Cataract 41;Wolfram-like syndrome, AD;Wolfram syndrome 1;Diabetes mellitus, noninsulin-dependent, association with;Deafness, AD 6/14/38 | AD, AR |
WNK1 | 605232 | Neuropathy, hereditary sensory and autonomic, type II;Pseudohypoaldosteronism, type IIC | AR, AD |
WT1 | 607102 | Denys-Drash syndrome;Mesothelioma, somatic;Frasier syndrome;Meacham syndrome;Wilms tumor, type 1;Nephrotic syndrome, type 4 | AD, SM, AD |
ZAP70 | 176947 | Autoimmune disease, multisystem, infantile-onset, 2;Immunodeficiency 48 | AR |
ZEB2 | 605802 | Mowat-Wilson syndrome | AD |
ZFP57 | 612192 | Diabetes mellitus, transient neonatal 1 | AD |
ZNF423 | 604557 | Joubert syndrome 19;Nephronophthisis 14 | AD, AR |
COMMON SYNDROMES AND DISORDERS COVERED
- Alagille syndrome
- Alpha-Thalassemia
- Arginase deficiency
- Beta-Thalassemia
- Biotinidase deficiency
- Biotin-thiamine-responsive basal ganglia disease
- Carnitine deficiency
- Cystic Fibrosis
- Dystonia DOPA responsive
- Factor VII deficiency
- Glucose transporter 1 deficiency
- Glutaric acidemia Type 1
- Hereditary fructose intolerance
- Holocarboxylase synthetase deficiency
- Maple syrup urine disease (MSUD)
- Non ketotic hyperglicinemia
- Phenylketonuria
- Pompe disease
- Primary coenzyme Q10 deficiency
- Pyridoxamine 5 phosphate oxidase deficiency
- Pyridoxine-dependent epilepsy
- Pyruvate carboxylase deficiency
- Tuberous sclerosis complex
- Tyrosinemia type I
- VLCAD deficiency
*List does not include all disorders covered by our panel
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CentoMito Comprehensive
CentoMito Comprehensive covers the entire mitochondrial genome (≥97% ≥ 200x coverage) with detection of heteroplasmy down to 5% along with nuclear genes related to mitochondrial diseases (≥99.0% ≥20x coverage). Mitochondrial diseases are genetic conditions that occur when mitochondria fails to produce enough energy for the cell. Genetic mutations related to mitochondria cause symptoms mainly in the organs, where energetic consumption is high. These organs include the eye, kidney, pancreas, blood, inner ear, colon, skeletal muscle, heart, and brain.
No. of genes: | 450 |
TAT: | 25 days |
Coverage: | ≥99.0% ≥20x (nuclear mitochondrial genes) ≥97% ≥200x |
Details: | CNV analysis included mtDNA analysis included |
Overview of Genes and Associated Diseases (OMIM) Included in This Panel
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8;Leukoencephalopathy, progressive, with ovarian failure | AR |
AASS | 605113 | Hyperlysinemia | AR |
ABAT | 137150 | GABA-transaminase deficiency | AR |
ABCB6 | 605452 | Microphthalmia, isolated, with coloboma 7;[Blood group, Langereis system];Dyschromatosis universalis hereditaria 3;Pseudohyperkalemia, familial, 2, due to red cell leak | AD |
ABCB7 | 300135 | Anemia, sideroblastic, with ataxia | XLR |
ABCD1 | 300371 | Adrenoleukodystrophy;Adrenomyeloneuropathy, adult | XLR |
ABCD3 | 170995 | ?Bile acid synthesis defect, congenital, 5 | AR |
ACACA | 200350 | Acetyl-CoA carboxylase deficiency | AR |
ACAD8 | 604773 | Isobutyryl-CoA dehydrogenase deficiency | AR |
ACAD9 | 611103 | MT complex I deficiency, nuclear type 20 | AR |
ACADM | 607008 | Acyl-CoA dehydrogenase, medium chain, deficiency of | AR |
ACADS | 606885 | Acyl-CoA dehydrogenase, short-chain, deficiency of | AR |
ACADSB | 600301 | 2-methylbutyrylglycinuria | AR |
ACADVL | 609575 | VLCAD deficiency | AR |
ACAT1 | 607809 | Alpha-methylacetoacetic aciduria | AR |
ACO2 | 100850 | ?Optic atrophy 9;Infantile cerebellar-retinal degeneration | AR |
ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency;Mitchell syndrome | AR, AD |
ACSF3 | 614245 | Combined malonic and methylmalonic aciduria | |
ACSL4 | 300157 | Mental retardation, X-linked 63 | XLD |
ADAR | 146920 | Aicardi-Goutieres syndrome 6;Dyschromatosis symmetrica hereditaria | AR, AD |
AFG3L2 | 604581 | Spinocerebellar ataxia 28;Spastic ataxia 5, AR;Optic atrophy 12 | AD, AR |
AGK | 610345 | Sengers syndrome;Cataract 38, AR | AR |
AGXT | 604285 | Hyperoxaluria, primary, type 1 | AR |
AIFM1 | 300169 | Cowchock syndrome;Combined oxidative phosphorylation deficiency 6;Deafness, X-linked 5;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy | XLR |
AK2 | 103020 | Reticular dysgenesis | AR |
ALAS2 | 301300 | Protoporphyria, erythropoietic, X-linked;Anemia, sideroblastic, 1 | XL, XLR |
ALDH18A1 | 138250 | Cutis laxa, AD 3;Cutis laxa, autosomal recessive, type IIIA;Spastic paraplegia 9B, AR;Spastic paraplegia 9A, AD | AD, AR |
ALDH2 | 100650 | Alcohol sensitivity, acute;Hangover, susceptibility to | AD |
ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
ALDH4A1 | 606811 | Hyperprolinemia, type II | AR |
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
ALDH6A1 | 603178 | Methylmalonate semialdehyde dehydrogenase deficiency | AR |
ALDH7A1 | 107323 | Epilepsy, pyridoxine-dependent | AR |
AMACR | 604489 | Bile acid synthesis defect, congenital, 4;Alpha-methylacyl-CoA racemase deficiency | AR |
AMPD1 | 102770 | Myopathy due to myoadenylate deaminase deficiency | AR |
AMT | 238310 | Glycine encephalopathy | AR |
APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
ATIC | 601731 | AICA-ribosiduria due to ATIC deficiency | AR |
ATP5F1A | 164360 | ?MT complex V (ATP synthase) deficiency, nuclear type 4;?Combined oxidative phosphorylation deficiency 22 | AR |
ATP5F1E | 606153 | ?MT complex V (ATP synthase) deficiency, nuclear type 3 | AR |
ATP7B | 606882 | Wilson disease | AR |
ATPAF2 | 608918 | ?MT complex V (ATP synthase) deficiency, nuclear type 1 | AR |
AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
BAG3 | 603883 | Cardiomyopathy, dilated, 1HH;Myopathy, myofibrillar, 6 | AD |
BCKDHA | 608348 | Maple syrup urine disease, type Ia | AR |
BCKDHB | 248611 | Maple syrup urine disease, type Ib | AR |
BCKDK | 614901 | Branched-chain ketoacid dehydrogenase kinase deficiency | |
BCS1L | 603647 | GRACILE syndrome;Bjornstad syndrome;MT complex III deficiency, nuclear type 1 | AR |
BOLA3 | 613183 | Multiple MT dysfunctions syndrome 2 with hyperglycinemia | AR |
BTD | 609019 | Biotinidase deficiency | AR |
C19orf12 | 614297 | Neurodegeneration with brain iron accumulation 4;?Spastic paraplegia 43, AR | AD, AR, AR |
C1QBP | 601269 | Combined oxidative phosphorylation deficiency 33 | AR |
CA5A | 114761 | Hyperammonemia due to carbonic anhydrase VA deficiency | AR |
CARS2 | 612800 | Combined oxidative phosphorylation deficiency 27 | AR |
CAT | 115500 | Acatalasemia | |
CAVIN1 | 603198 | Lipodystrophy, congenital generalized, type 4 | AR |
CEL | 114840 | Maturity-onset diabetes of the young, type VIII | AD |
CHAT | 118490 | Myasthenic syndrome, congenital, 6, presynaptic | AR |
CHCHD10 | 615903 | ?Myopathy, isolated MT, AD;Spinal muscular atrophy, Jokela type;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | AD |
CISD2 | 611507 | Wolfram syndrome 2 | AR |
CLPB | 616254 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia | AR |
CLPP | 601119 | Perrault syndrome 3 | AR |
COA5 | 613920 | ?MT complex IV, deficiency, nuclear type 9 | AR |
COA6 | 614772 | MT complex IV deficiency, nuclear type 13 | AR |
COA7 | 615623 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | AR |
COA8 | 616003 | MT complex IV deficiency, nuclear type 17 | AR |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6;Pontocerebellar hypoplasia, type 12 | AR |
COMT | 116790 | Panic disorder, susceptibility to;Schizophrenia, susceptibility to | ?AD, AD |
COQ2 | 609825 | Coenzyme Q10 deficiency, primary, 1;Multiple system atrophy, susceptibility to | AR, AD, AR |
COQ4 | 612898 | Coenzyme Q10 deficiency, primary, 7 | AR |
COQ6 | 614647 | Coenzyme Q10 deficiency, primary, 6 | AR |
COQ7 | 601683 | ?Coenzyme Q10 deficiency, primary, 8 | AR |
COQ8A | 606980 | Coenzyme Q10 deficiency, primary, 4 | AR |
COQ8B | 615567 | Nephrotic syndrome, type 9 | AR |
COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
COX10 | 602125 | MT complex IV deficiency, nuclear type 3 | AR |
COX14 | 614478 | ?MT complex IV deficiency, nuclear type 10 | AR |
COX15 | 603646 | MT complex IV deficiency, nuclear type 6 | AR |
COX20 | 614698 | MT complex IV deficiency, nuclear type 11 | AR |
COX4I2 | 607976 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis | AR |
COX6A1 | 602072 | Charcot-Marie-Tooth disease, recessive intermediate D | AR |
COX6B1 | 124089 | MT complex IV deficiency, nuclear type 7 | AR |
COX7B | 300885 | Linear skin defects with multiple congenital anomalies 2 | XLD |
CPOX | 612732 | Harderoporphyria;Coproporphyria | AR, AD, AR |
CPS1 | 608307 | Carbamoylphosphate synthetase I deficiency;Pulmonary hypertension, neonatal, susceptibility to | AR |
CPT1A | 600528 | CPT deficiency, hepatic, type IA | AR |
CPT1C | 608846 | ?Spastic paraplegia 73, AD | AD |
CPT2 | 600650 | CPT II deficiency, myopathic, stress-induced;CPT II deficiency, infantile;Encephalopathy, acute, infection-induced, 4, susceptibility to;CPT II deficiency, lethal neonatal | AD, AR, AR |
CRBN | 609262 | Mental retardation, autosomal recessive 2 | AR |
CYB5A | 613218 | Methemoglobinemia and ambiguous genitalia | AR |
CYB5R3 | 613213 | Methemoglobinemia, type I;Methemoglobinemia, type II | AR |
CYC1 | 123980 | MT complex III deficiency, nuclear type 6 | AR |
CYCS | 123970 | Thrombocytopenia 4 | AD |
CYP11A1 | 118485 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete | |
CYP11B1 | 610613 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency;Aldosteronism, glucocorticoid-remediable | AR, AD |
CYP11B2 | 124080 | Hypoaldosteronism, congenital, due to CMO II deficiency;Hypoaldosteronism, congenital, due to CMO I deficiency | AR |
CYP24A1 | 126065 | Hypercalcemia, infantile, 1 | AR |
CYP27A1 | 606530 | Cerebrotendinous xanthomatosis | AR |
CYP27B1 | 609506 | Vitamin D-dependent rickets, type I | AR |
D2HGDH | 609186 | D-2-hydroxyglutaric aciduria | AR |
DARS2 | 610956 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
DBT | 248610 | Maple syrup urine disease, type II | AR |
DGUOK | 601465 | Portal hypertension, noncirrhotic;Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 4;MT DNA depletion syndrome 3 (hepatocerebral type) | AR |
DHCR24 | 606418 | Desmosterolosis | AR |
DHODH | 126064 | Miller syndrome | AR |
DHTKD1 | 614984 | 2-aminoadipic 2-oxoadipic aciduria;?Charcot-Marie-Tooth disease, axonal, type 2Q | AR, AD |
DIABLO | 605219 | Deafness, AD 64 | AD |
DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
DLD | 238331 | Dihydrolipoamide dehydrogenase deficiency | AR |
DMGDH | 605849 | Dimethylglycine dehydrogenase deficiency | AR |
DNA2 | 601810 | ?Seckel syndrome 8;Progressive external ophthalmoplegia with MT DNA deletions, AD 6 | AR, AD |
DNAJC19 | 608977 | 3-methylglutaconic aciduria, type V | AR |
DNM1L | 603850 | Optic atrophy 5;Encephalopathy, lethal, due to defective MT peroxisomal fission 1 | AD, AD, AR |
EARS2 | 612799 | Combined oxidative phosphorylation deficiency 12 | AR |
ECHS1 | 602292 | MT short-chain enoyl-CoA hydratase 1 deficiency | AR |
ELAC2 | 605367 | Prostate cancer, hereditary, 2, susceptibility to;Combined oxidative phosphorylation deficiency 17 | AR |
EPHX2 | 132811 | Hypercholesterolemia, familial, due to LDLR defect, modifier of | AD, AR |
ETFA | 608053 | Glutaric acidemia IIA | AR |
ETFB | 130410 | Glutaric acidemia IIB | AR |
ETFDH | 231675 | Glutaric acidemia IIC | AR |
ETHE1 | 608451 | Ethylmalonic encephalopathy | AR |
FAH | 613871 | Tyrosinemia, type I | AR |
FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14;Spastic paraplegia 77, AR | AR |
FASTKD2 | 612322 | Combined oxidative phosphorylation deficiency 44 | AR |
FBXL4 | 605654 | MT DNA depletion syndrome 13 (encephalomyopathic type) | AR |
FDX2 | 614585 | MT myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | AR |
FECH | 612386 | Protoporphyria, erythropoietic, 1 | AR |
FH | 136850 | Fumarase deficiency;Leiomyomatosis and renal cell cancer | AR, AD |
FKBP10 | 607063 | Osteogenesis imperfecta, type XI;Bruck syndrome 1 | AR |
FLAD1 | 610595 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | AR |
FOXRED1 | 613622 | MT complex I deficiency, nuclear type 19 | AR |
FXN | 606829 | Friedreich ataxia;Friedreich ataxia with retained reflexes | AR |
GAMT | 601240 | Cerebral creatine deficiency syndrome 2 | AR |
GARS1 | 600287 | Spinal muscular atrophy, infantile, James type;Charcot-Marie-Tooth disease, type 2D;Neuronopathy, distal hereditary motor, type VA | AD |
GATM | 602360 | Cerebral creatine deficiency syndrome 3;Fanconi renotubular syndrome 1 | AR, AD |
GCDH | 608801 | Glutaricaciduria, type I | AR |
GCSH | 238330 | ?Glycine encephalopathy | AR |
GDAP1 | 606598 | Charcot-Marie-Tooth disease, axonal, type 2K;Charcot-Marie-Tooth disease, type 4A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis;Charcot-Marie-Tooth disease, recessive intermediate, A | AD, AR, AR |
GFER | 600924 | Myopathy, MT progressive, with congenital cataract and developmental delay | AR |
GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
GFM2 | 606544 | Combined oxidative phosphorylation deficiency 39 | AR |
GK | 300474 | Glycerol kinase deficiency | XLR |
GLDC | 238300 | Glycine encephalopathy | AR |
GLRX5 | 609588 | Spasticity, childhood-onset, with hyperglycinemia;Anemia, sideroblastic, 3, pyridoxine-refractory | AR |
GLUD1 | 138130 | Hyperinsulinism-hyperammonemia syndrome | AD |
GLYCTK | 610516 | D-glyceric aciduria | AR |
GPI | 172400 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | AR |
GPT2 | 138210 | Neurodevelopmental disorder with microcephaly and spastic paraplegia | AR |
GPX1 | 138320 | Hemolytic anemia due to glutathione peroxidase deficiency | AR |
GRHPR | 604296 | Hyperoxaluria, primary, type II | AR |
GSR | 138300 | Hemolytic anemia due to glutathione reductase deficiency | AR |
GTPBP3 | 608536 | Combined oxidative phosphorylation deficiency 23 | AR |
HADH | 601609 | 3-hydroxyacyl-CoA dehydrogenase deficiency;Hyperinsulinemic hypoglycemia, familial, 4 | AR |
HADHA | 600890 | HELLP syndrome, maternal, of pregnancy;LCHAD deficiency;Fatty liver, acute, of pregnancy;MT trifunctional protein deficiency | AR |
HADHB | 143450 | Trifunctional protein deficiency | AR |
HAMP | 606464 | Hemochromatosis, type 2B | AR |
HARS2 | 600783 | Perrault syndrome 2 | AR |
HAX1 | 605998 | Neutropenia, severe congenital 3, AR | AR |
HCCS | 300056 | Linear skin defects with multiple congenital anomalies 1 | XLD |
HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
HINT1 | 601314 | Neuromyotonia and axonal neuropathy, AR | AR |
HK1 | 142600 | Retinitis pigmentosa 79;Hemolytic anemia due to hexokinase deficiency;Neurodevelopmental disorder with visual defects and brain anomalies;Neuropathy, hereditary motor and sensory, Russe type | AD, AR |
HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
HMBS | 609806 | Porphyria, acute intermittent;Porphyria, acute intermittent, nonerythroid variant | AD |
HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
HMGCS2 | 600234 | HMG-CoA synthase-2 deficiency | AR |
HOGA1 | 613597 | Hyperoxaluria, primary, type III | AR |
HSD17B10 | 300256 | HSD10 MT disease | XLD |
HSD17B4 | 601860 | Perrault syndrome 1;D-bifunctional protein deficiency | AR |
HSD3B2 | 613890 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR |
HSPA9 | 600548 | Even-plus syndrome;Anemia, sideroblastic, 4 | AR, AD |
HSPD1 | 118190 | Leukodystrophy, hypomyelinating, 4;Spastic paraplegia 13, AD | AR, AD |
HTRA2 | 606441 | Parkinson disease 13;3-methylglutaconic aciduria, type VIII | AR |
IARS2 | 612801 | ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | AR |
IBA57 | 615316 | ?Spastic paraplegia 74, AR;Multiple MT dysfunctions syndrome 3 | AR |
IDH2 | 147650 | D-2-hydroxyglutaric aciduria 2 | |
IDH3B | 604526 | Retinitis pigmentosa 46 | AR |
IFIH1 | 606951 | Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1 | AD |
ISCA1 | 611006 | Multiple MT dysfunctions syndrome 5 | AR |
ISCA2 | 615317 | Multiple MT dysfunctions syndrome 4 | AR |
ISCU | 611911 | Myopathy with lactic acidosis, hereditary | AR |
IVD | 607036 | Isovaleric acidemia | AR |
KARS1 | 601421 | ?Charcot-Marie-Tooth disease, recessive intermediate, B;Deafness, congenital, and adult-onset progressive leukoencephalopathy;Leukoencephalopathy, progressive, infantile-onset, with or without deafness;Deafness, autosomal recessive 89 | AR |
KRT5 | 148040 | Epidermolysis bullosa simplex-MP;Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex, recessive 1;Epidermolysis bullosa simplex, Weber-Cockayne type;Epidermolysis bullosa simplex 2B, generalized intermediate;Epidermolysis bullosa simplex 2A, generalized severe;Epidermolysis bullosa simplex-MCR;Dowling-Degos disease 1;Epidermolysis bullosa simplex 2C, localized;Epidermolysis bullosa simplex, Dowling-Meara type;Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, AR | AD, AR |
KRT8 | 148060 | Cirrhosis, cryptogenic;Cirrhosis, noncryptogenic, susceptibility to | AR |
L2HGDH | 609584 | L-2-hydroxyglutaric aciduria | AR |
LAMP2 | 309060 | Danon disease | XLD |
LARS2 | 604544 | ?Hydrops, lactic acidosis, and sideroblastic anemia;Perrault syndrome 4 | AR |
LIAS | 607031 | Hyperglycinemia, lactic acidosis, and seizures | AR |
LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
LIPT2 | 617659 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | AR |
LMBRD1 | 612625 | Methylmalonic aciduria and homocystinuria, cblF type | AR |
LONP1 | 605490 | CODAS syndrome | AR |
LRPPRC | 607544 | MT complex IV deficiency, nuclear type 5, (French-Canadian) | AR |
LYRM7 | 615831 | MT complex III deficiency, nuclear type 8 | AR |
MAOA | 309850 | Antisocial behavior;Brunner syndrome | XLR |
MARS2 | 609728 | Spastic ataxia 3, AR;?Combined oxidative phosphorylation deficiency 25 | AR |
MCCC1 | 609010 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
MCCC2 | 609014 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | AR |
MCEE | 608419 | Methylmalonyl-CoA epimerase deficiency | AR |
MECR | 608205 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | AR |
MFF | 614785 | Encephalopathy due to defective MT and peroxisomal fission 2 | AR |
MFN2 | 608507 | Hereditary motor and sensory neuropathy VIA;Charcot-Marie-Tooth disease, axonal, type 2A2B;Charcot-Marie-Tooth disease, axonal, type 2A2A | AD, AR |
MGME1 | 615076 | MT DNA depletion syndrome 11 | AR |
MICU1 | 605084 | Myopathy with extrapyramidal signs | AR |
MIPEP | 602241 | Combined oxidative phosphorylation deficiency 31 | AR |
MLYCD | 606761 | Malonyl-CoA decarboxylase deficiency | AR |
MMAA | 607481 | Methylmalonic aciduria, vitamin B12-responsive | AR |
MMAB | 607568 | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type | AR |
MMACHC | 609831 | Methylmalonic aciduria and homocystinuria, cblC type | AR |
MMADHC | 611935 | Methylmalonic aciduria and homocystinuria, cblD type;Methylmalonic aciduria, cblD type, variant 2;Homocystinuria, cblD type, variant 1 | AR |
MMUT | 609058 | Methylmalonic aciduria, mut(0) type | AR |
MOCS1 | 603707 | Molybdenum cofactor deficiency A | AR |
MPC1 | 614738 | MT pyruvate carrier deficiency | AR |
MPV17 | 137960 | Charcot-Marie-Tooth disease, axonal, type 2EE;MT DNA depletion syndrome 6 (hepatocerebral type) | AR |
MRPL3 | 607118 | Combined oxidative phosphorylation deficiency 9 | AR |
MRPL44 | 611849 | ?Combined oxidative phosphorylation deficiency 16 | AR |
MRPS16 | 609204 | Combined oxidative phosphorylation deficiency 2 | AR |
MRPS2 | 611971 | Combined oxidative phosphorylation deficiency 36 | AR |
MRPS22 | 605810 | Ovarian dysgenesis 7;Combined oxidative phosphorylation deficiency 5 | AR |
MRPS34 | 611994 | Combined oxidative phosphorylation deficiency 32 | AR |
MSRB3 | 613719 | Deafness, autosomal recessive 74 | AR |
MSTO1 | 617619 | Myopathy, MT, and ataxia | AD, AR |
MT-ATP6 | |||
MT-ATP8 | |||
MT-CO1 | |||
MT-CO2 | |||
MT-CO3 | |||
MT-CYB | |||
MT-ND1 | |||
MT-ND2 | |||
MT-ND3 | |||
MT-ND4 | |||
MT-ND4L | |||
MT-ND5 | |||
MT-ND6 | |||
MT-RNR1 | |||
MT-RNR2 | |||
MT-TA | |||
MT-TC | |||
MT-TD | |||
MT-TE | |||
MT-TF | |||
MT-TG | |||
MT-TH | |||
MT-TI | |||
MT-TK | |||
MT-TL1 | |||
MT-TL2 | |||
MT-TM | |||
MT-TN | |||
MT-TP | |||
MT-TQ | |||
MT-TR | |||
MT-TS1 | |||
MT-TS2 | |||
MT-TT | |||
MT-TV | |||
MT-TW | |||
MT-TY | |||
MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15;MT complex I deficiency, nuclear type 27 | AR |
MTHFD1 | 172460 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia;Neural tube defects, folate-sensitive, susceptibility to | AR |
MTO1 | 614667 | Combined oxidative phosphorylation deficiency 10 | AR |
MTPAP | 613669 | ?Spastic ataxia 4, AR | AR |
MTRR | 602568 | Homocystinuria-megaloblastic anemia, cbl E type;Neural tube defects, folate-sensitive, susceptibility to | AR |
MTRFR | 613541 | Spastic paraplegia 55, AR;Combined oxidative phosphorylation deficiency 7 | AR |
NADK2 | 615787 | 2,4-dienoyl-CoA reductase deficiency | AR |
NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
NARS2 | 612803 | ?Deafness, autosomal recessive 94;Combined oxidative phosphorylation deficiency 24 | AR |
NAXE | 608862 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | AR |
NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly;Infantile liver failure syndrome 2 | AR |
NDUFA1 | 300078 | MT complex I deficiency, nuclear type 12 | XLR |
NDUFA10 | 603835 | MT complex I deficiency, nuclear type 22 | AR |
NDUFA11 | 612638 | MT complex I deficiency, nuclear type 14 | AR |
NDUFA12 | 614530 | ?MT complex I deficiency, nuclear type 23 | AR |
NDUFA2 | 602137 | MT complex I deficiency, nuclear type 13 | AR |
NDUFA6 | 602138 | MT complex I deficiency, nuclear type 33 | AR |
NDUFA9 | 603834 | MT complex I deficiency, nuclear type 26 | AR |
NDUFAF1 | 606934 | MT complex I deficiency, nuclear type 11 | AR |
NDUFAF2 | 609653 | MT complex I deficiency, nuclear type 10 | AR |
NDUFAF3 | 612911 | MT complex I deficiency, nuclear type 18 | AR |
NDUFAF4 | 611776 | MT complex I deficiency, nuclear type 15 | AR |
NDUFAF5 | 612360 | MT complex I deficiency, nuclear type 16 | AR |
NDUFAF6 | 612392 | MT complex I deficiency, nuclear type 17;Fanconi renotubular syndrome 5 | AR |
NDUFB11 | 300403 | Linear skin defects with multiple congenital anomalies 3;?MT complex I deficiency, nuclear type 30 | XLD, XL |
NDUFB3 | 603839 | MT complex I deficiency, nuclear type 25 | AR |
NDUFB8 | 602140 | MT complex I deficiency, nuclear type 32 | AR |
NDUFB9 | 601445 | ?MT complex I deficiency, nuclear type 24 | AR |
NDUFS1 | 157655 | MT complex I deficiency, nuclear type 5 | AR |
NDUFS2 | 602985 | MT complex I deficiency, nuclear type 6 | AR |
NDUFS3 | 603846 | MT complex I deficiency, nuclear type 8 | AR |
NDUFS4 | 602694 | MT complex I deficiency, nuclear type 1 | AR |
NDUFS6 | 603848 | MT complex I deficiency, nuclear type 9 | AR |
NDUFS7 | 601825 | MT complex I deficiency, nuclear type 3 | AR |
NDUFS8 | 602141 | MT complex I deficiency, nuclear type 2 | AR |
NDUFV1 | 161015 | MT complex I deficiency, nuclear type 4 | AR |
NDUFV2 | 600532 | MT complex I deficiency, nuclear type 7 | AR |
NFU1 | 608100 | Multiple MT dysfunctions syndrome 1 | AR |
NGLY1 | 610661 | Congenital disorder of deglycosylation | AR |
NNT | 607878 | Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency | AR |
NR2F1 | 132890 | Bosch-Boonstra-Schaaf optic atrophy syndrome | AD |
NTHL1 | 602656 | Familial adenomatous polyposis 3 | AR |
NUBPL | 613621 | MT complex I deficiency, nuclear type 21 | AR |
NUP62 | 605815 | Striatonigral degeneration, infantile | AR |
OAT | 613349 | Gyrate atrophy of choroid and retina with or without ornithinemia | AR |
OGDH | 613022 | Alpha-ketoglutarate dehydrogenase deficiency | AR |
OPA1 | 605290 | Optic atrophy 1;?MT DNA depletion syndrome 14 (encephalocardiomyopathic type);Glaucoma, normal tension, susceptibility to;Optic atrophy plus syndrome;Behr syndrome | AD, AR |
OPA3 | 606580 | 3-methylglutaconic aciduria, type III;Optic atrophy 3 with cataract | AR, AD |
OTC | 300461 | Ornithine transcarbamylase deficiency | XL |
OXCT1 | 601424 | Succinyl CoA:3-oxoacid CoA transferase deficiency | AR |
P4HB | 176790 | Cole-Carpenter syndrome 1 | AD |
PAM16 | 614336 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type | AR |
PANK2 | 606157 | HARP syndrome;Neurodegeneration with brain iron accumulation 1 | AR |
PARK7 | 602533 | Parkinson disease 7, autosomal recessive early-onset | AR |
PARS2 | 612036 | Developmental and epileptic encephalopathy 75 | AR |
PC | 608786 | Pyruvate carboxylase deficiency | AR |
PCCA | 232000 | Propionicacidemia | AR |
PCCB | 232050 | Propionicacidemia | AR |
PCK2 | 614095 | PEPCK deficiency, MT | AR |
PDHA1 | 300502 | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | AR |
PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
PDK3 | 300906 | ?Charcot-Marie-Tooth disease, XLD, 6 | XLD |
PDP1 | 605993 | Pyruvate dehydrogenase phosphatase deficiency | AR |
PDSS1 | 607429 | Coenzyme Q10 deficiency, primary, 2 | AR |
PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
PDX1 | 600733 | Pancreatic agenesis 1;MODY, type IV;Diabetes mellitus, type II, susceptibility to | AR, AD |
PET100 | 614770 | MT complex IV deficiency, nuclear type 12 | AR |
PEX11B | 603867 | Peroxisome biogenesis disorder 14B | AR |
PHYH | 602026 | Refsum disease | AR |
PINK1 | 608309 | Parkinson disease 6, early onset | AR |
PKLR | 609712 | Adenosine triphosphate, elevated, of erythrocytes;Pyruvate kinase deficiency | AD, AR |
PMPCA | 613036 | Spinocerebellar ataxia, autosomal recessive 2 | AR |
PMPCB | 603131 | Multiple MT dysfunctions syndrome 6 | AR |
PNKD | 609023 | Paroxysmal nonkinesigenic dyskinesia 1 | AD |
PNPLA8 | 612123 | ?MT myopathy with lactic acidosis | AR |
PNPO | 603287 | Pyridoxamine 5'-phosphate oxidase deficiency | AR |
PNPT1 | 610316 | Deafness, autosomal recessive 70;Combined oxidative phosphorylation deficiency 13 | AR |
POLG | 174763 | Progressive external ophthalmoplegia, autosomal recessive 1;Progressive external ophthalmoplegia, AD 1;MT recessive ataxia syndrome (includes SANDO and SCAE);MT DNA depletion syndrome 4B (MNGIE type);MT DNA depletion syndrome 4A (Alpers type) | AR, AD |
POLG2 | 604983 | MT DNA depletion syndrome 16 (hepatic type);?MT DNA depletion syndrome 16B (neuroophthalmic type);Progressive external ophthalmoplegia with MT DNA deletions, AD 4 | AR, AD |
POP1 | 602486 | Anauxetic dysplasia 2 | AR |
PPOX | 600923 | Porphyria variegata | AD |
PRODH | 606810 | Schizophrenia, susceptibility to, 4;Hyperprolinemia, type I | AD, AR |
PSAP | 176801 | Combined SAP deficiency;Gaucher disease, atypical;Krabbe disease, atypical;Parkinson disease 24, AD, susceptibility to;Metachromatic leukodystrophy due to SAP-b deficiency | AR, AD |
PTRH2 | 608625 | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease | AR |
PTS | 612719 | Hyperphenylalaninemia, BH4-deficient, A | AR |
PUS1 | 608109 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | AR |
PYCR1 | 179035 | Cutis laxa, autosomal recessive, type IIB;Cutis laxa, autosomal recessive, type IIIB | AR |
PYCR2 | 616406 | Leukodystrophy, hypomyelinating, 10 | AR |
QDPR | 612676 | Hyperphenylalaninemia, BH4-deficient, C | AR |
RARS1 | 107820 | Leukodystrophy, hypomyelinating, 9 | AR |
RARS2 | 611524 | Pontocerebellar hypoplasia, type 6 | AR |
RDH11 | 607849 | ?Retinal dystrophy, juvenile cataracts, and short stature syndrome | AR |
RMND1 | 614917 | Combined oxidative phosphorylation deficiency 11 | AR |
RNASEH1 | 604123 | Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 2 | AR |
RNASEH2A | 606034 | Aicardi-Goutieres syndrome 4 | AR |
RNASEH2B | 610326 | Aicardi-Goutieres syndrome 2 | AR |
RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
RPIA | 180430 | Ribose 5-phosphate isomerase deficiency | AR |
RPL35A | 180468 | Diamond-Blackfan anemia 5 | AD |
RPS14 | 130620 | Macrocytic anemia, refractory, due to 5q deletion, somatic | |
RRM2B | 604712 | MT DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy);Progressive external ophthalmoplegia with MT DNA deletions, AD 5;MT DNA depletion syndrome 8B (MNGIE type) | AR, AD |
SACS | 604490 | Spastic ataxia, Charlevoix-Saguenay type | AR |
SARS2 | 612804 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | AR |
SBDS | 607444 | Aplastic anemia, susceptibility to;Shwachman-Diamond syndrome | AR |
SCN1A | 182389 | Epilepsy, generalized, with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Developmental and epileptic encephalopathy 6B, non-Dravet;Febrile seizures, familial, 3A;Dravet syndrome | AD |
SCO1 | 603644 | MT complex IV deficiency, nuclear type 4 | AR |
SCO2 | 604272 | Myopia 6;MT complex IV deficiency, nuclear type 2 | AD, AR |
SDHA | 600857 | Neurodegeneration with ataxia and late-onset optic atrophy;Cardiomyopathy, dilated, 1GG;Leigh syndrome;MT respiratory chain complex II deficiency;Paragangliomas 5 | AD, AR, AR, MT |
SDHAF1 | 612848 | MT complex II deficiency, nuclear type 2;MT complex II deficiency | AR |
SDHAF2 | 613019 | Paragangliomas 2 | AD |
SDHD | 602690 | MT complex II deficiency;Paraganglioma and gastric stromal sarcoma;Paragangliomas 1, with or without deafness;MT complex II deficiency, nuclear type 3;Pheochromocytoma | AR, AD |
SECISBP2 | 607693 | Thyroid hormone metabolism, abnormal | AR |
SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | AR |
SFXN4 | 615564 | Combined oxidative phosphorylation deficiency 18 | AR |
SLC16A1 | 600682 | Hyperinsulinemic hypoglycemia, familial, 7;Erythrocyte lactate transporter defect;Monocarboxylate transporter 1 deficiency | AD, AD, AR |
SLC19A2 | 603941 | Thiamine-responsive megaloblastic anemia syndrome | AR |
SLC19A3 | 606152 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | AR |
SLC22A5 | 603377 | Carnitine deficiency, systemic primary | AR |
SLC25A1 | 190315 | Myasthenic syndrome, congenital, 23, presynaptic;Combined D-2- and L-2-hydroxyglutaric aciduria | AR |
SLC25A12 | 603667 | Developmental and epileptic encephalopathy 39 | AR |
SLC25A13 | 603859 | Citrullinemia, type II, neonatal-onset;Citrullinemia, adult-onset type II | AR |
SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
SLC25A19 | 606521 | Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type);Microcephaly, Amish type | AR |
SLC25A20 | 613698 | Carnitine-acylcarnitine translocase deficiency | AR |
SLC25A22 | 609302 | Developmental and epileptic encephalopathy 3 | AR |
SLC25A26 | 611037 | Combined oxidative phosphorylation deficiency 28 | AR |
SLC25A3 | 600370 | MT phosphate carrier deficiency | AR |
SLC25A38 | 610819 | Anemia, sideroblastic, 2, pyridoxine-refractory | AR |
SLC25A4 | 103220 | MT DNA depletion syndrome 12B (cardiomyopathic type) AR;MT DNA depletion syndrome 12A (cardiomyopathic type) AD;Progressive external ophthalmoplegia with MT DNA deletions, AD 2 | AR, AD |
SLC25A42 | 610823 | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | AR |
SLC25A46 | 610826 | Neuropathy, hereditary motor and sensory, type VIB;Pontocerebellar hypoplasia, type 1E | AR |
SLC39A8 | 608732 | Congenital disorder of glycosylation, type IIn | AR |
SLC52A2 | 607882 | Brown-Vialetto-Van Laere syndrome 2 | AR |
SLC6A8 | 300036 | Cerebral creatine deficiency syndrome 1 | XLR |
SLC9A6 | 300231 | Mental retardation, X-linked syndromic, Christianson type | XL |
SNAP29 | 604202 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | AR |
SOD1 | 147450 | Spastic tetraplegia and axial hypotonia, progressive;Amyotrophic lateral sclerosis 1 | AR, AD, AR |
SOD2 | 147460 | Microvascular complications of diabetes 6 | |
SPAST | 604277 | Spastic paraplegia 4, AD | AD |
SPG7 | 602783 | Spastic paraplegia 7, AR | AD, AR |
SPR | 182125 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
SPTLC2 | 605713 | Neuropathy, hereditary sensory and autonomic, type IC | AD |
STAR | 600617 | Lipoid adrenal hyperplasia | AR |
STAT2 | 600556 | Pseudo-TORCH syndrome 3;Immunodeficiency 44 | AR |
STXBP1 | 602926 | Developmental and epileptic encephalopathy 4 | AD |
SUCLA2 | 603921 | MT DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | AR |
SUCLG1 | 611224 | MT DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | AR |
SUGCT | 609187 | Glutaric aciduria III | AR |
SUOX | 606887 | Sulfite oxidase deficiency | AR |
SURF1 | 185620 | Charcot-Marie-Tooth disease, type 4K;MT complex IV deficiency, nuclear type 1 | AR |
TACO1 | 612958 | MT complex IV deficiency, nuclear type 8 | AR |
TAFAZZIN | 300394 | Barth syndrome | XLR |
TANGO2 | 616830 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | AR |
TCIRG1 | 604592 | Osteopetrosis, autosomal recessive 1 | AR |
TFR2 | 604720 | Hemochromatosis, type 3 | AR |
TIMM50 | 607381 | 3-methylglutaconic aciduria, type IX | AR |
TIMM8A | 300356 | Mohr-Tranebjaerg syndrome | XLR |
TIMMDC1 | 615534 | MT complex I deficiency, nuclear type 31 | AR |
TK2 | 188250 | MT DNA depletion syndrome 2 (myopathic type);?Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 3 | AR |
TMEM126A | 612988 | Optic atrophy 7 | AR |
TMEM126B | 615533 | MT complex I deficiency, nuclear type 29 | AR |
TMEM70 | 612418 | MT complex V (ATP synthase) deficiency, nuclear type 2 | AR |
TMLHE | 300777 | Autism, susceptibility to, X-linked 6 | XLR |
TOP3A | 601243 | Microcephaly, growth restriction, and increased sister chromatid exchange 2;?Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 5 | AR |
TPI1 | 190450 | Hemolytic anemia due to triosephosphate isomerase deficiency | AR |
TPK1 | 606370 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | AR |
TREX1 | 606609 | Aicardi-Goutieres syndrome 1, dominant and recessive;Chilblain lupus;Vasculopathy, retinal, with cerebral leukodystrophy;Systemic lupus erythematosus, susceptibility to | AD, AR, AD |
TRIT1 | 617840 | Combined oxidative phosphorylation deficiency 35 | AR |
TRMT10C | 615423 | Combined oxidative phosphorylation deficiency 30 | AR |
TRMT5 | 611023 | Combined oxidative phosphorylation deficiency 26 | AR |
TRMU | 610230 | Liver failure, transient infantile;Deafness, MT, modifier of | AR, MT |
TRNT1 | 612907 | Retinitis pigmentosa and erythrocytic microcytosis;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | AR |
TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
TTC19 | 613814 | MT complex III deficiency, nuclear type 2 | AR |
TUBB3 | 602661 | Cortical dysplasia, complex, with other brain malformations 1;Fibrosis of extraocular muscles, congenital, 3A | AD |
TUFM | 602389 | Combined oxidative phosphorylation deficiency 4 | AR |
TWNK | 606075 | Progressive external ophthalmoplegia with MT DNA deletions, AD 3;Perrault syndrome 5;MT DNA depletion syndrome 7 (hepatocerebral type) | AD, AR |
TYMP | 131222 | MT DNA depletion syndrome 1 (MNGIE type) | AR |
UNG | 191525 | Immunodeficiency with hyper IgM, type 5 | AR |
UQCC2 | 614461 | MT complex III deficiency, nuclear type 7 | AR |
UQCRB | 191330 | MT complex III deficiency, nuclear type 3 | AR |
UQCRC2 | 191329 | MT complex III deficiency, nuclear type 5 | AR |
UQCRQ | 612080 | MT complex III deficiency, nuclear type 4 | AR |
VARS2 | 612802 | Combined oxidative phosphorylation deficiency 20 | AR |
WARS2 | 604733 | Neurodevelopmental disorder, MT, with abnormal movements and lactic acidosis, with or without seizures;Parkinsonism-dystonia 3, childhood-onset | AR |
WDR45 | 300526 | Neurodegeneration with brain iron accumulation 5 | XLD |
WDR81 | 614218 | Hydrocephalus, congenital, 3, with brain anomalies;Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | AR |
WFS1 | 606201 | ?Cataract 41;Wolfram-like syndrome, AD;Wolfram syndrome 1;Diabetes mellitus, noninsulin-dependent, association with;Deafness, AD 6/14/38 | AD, AR |
XPNPEP3 | 613553 | Nephronophthisis-like nephropathy 1 | AR |
YARS2 | 610957 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | AR |
Common syndromes and disorders covered
- Chronic progressive external ophthalmoplegia
- Kearns-Sayre syndrome
- Leigh’s syndrome and maternally inherited Leigh’s syndrome
- Mitochondrial disorders
- Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
- Myoclonus epilepsy with ragged red fibers
- Myogastrointestinal encephalomyopathy
- NARP
- Neonatal mitochondrial hepatopathies
- Pearson syndrome
Available Downloads

Pediatric Neurology Panels – Product Sheet
A targeted approach for testing neurological disorders
CentoMito Genome
CentoMito Genome includes mitochondrial genes. Nuclear mitochondrial genes are not included.
No. of genes: | 37 |
TAT: | 25 days |
Coverage: | ≥97% ≥200x |
Details: | ≥5% mitochondrial heteroplasmy can be confidently detected |
Overview of Genes and Associated Diseases (OMIM) Included in This Panel
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
MT-ND1 | |||
MT-ND2 | |||
MT-CO1 | |||
MT-CO2 | |||
MT-ATP8 | |||
MT-ATP6 | |||
MT-CO3 | |||
MT-ND3 | |||
MT-ND4L | |||
MT-ND4 | |||
MT-ND5 | |||
MT-ND6 | |||
MT-CYB | |||
MT-TF | |||
MT-RNR1 | |||
MT-TV | |||
MT-RNR2 | |||
MT-TL1 | |||
MT-TI | |||
MT-TQ | |||
MT-TM | |||
MT-TW | |||
MT-TA | |||
MT-TN | |||
MT-TC | |||
MT-TY | |||
MT-TS1 | |||
MT-TD | |||
MT-TK | |||
MT-TG | |||
MT-TR | |||
MT-TH | |||
MT-TS2 | |||
MT-TL2 | |||
MT-TE | |||
MT-TT | |||
MT-TP |
Common syndromes and disorders covered
- Chronic progressive external ophthalmoplegia
- Kearns-Sayre syndrome
- Leber hereditary optic neuropathy
- Leigh-like syndrome
- Leigh syndrome
- Mitochondrial disorders
- NARP
Available Downloads

Pediatric Neurology Panels – Product Sheet
A targeted approach for testing neurological disorders
CentoNeuro
CentoNeuro is our largest panel – designed to detect a great array of neurological disorders from neonatal ICU cases to dementia or movement disorders in adults. This panel includes genes related to neurological diseases, such as amyotrophic lateral sclerosis, dementia, Parkinson´s, neuromuscular diseases, Charcot-Marie-Tooth, dystonia, epilepsy, autism, intellectual disability, migraine, spastic paraplegia, ataxia, Leigh syndrome, peroxisomal diseases, epileptic encephalopathies, and movement disorders, among others. Limitations: DMD is only analyzed by NGS. If there is high diagnostic suspicion for Duchenne muscular dystrophy, we recommend that the clinician orders deletion/duplication analysis by MLPA targeted to the DMD gene as an additional service.
No. of genes: | 1902 |
TAT: | 25 days |
Coverage: | ≥99.0% ≥20x |
Details: | CNV analysis included |
Overview of Genes and Associated Diseases (OMIM) Included in This Panel
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
AAAS | 605378 | Achalasia-addisonianism-alacrimia syndrome | AR |
AARS1 | 601065 | Trichothiodystrophy 8, nonphotosensitive;Charcot-Marie-Tooth disease, axonal, type 2N;Developmental and epileptic encephalopathy 29;?Leukoencephalopathy, hereditary diffuse, with spheroids 2 | AR, AD |
AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8;Leukoencephalopathy, progressive, with ovarian failure | AR |
AASS | 605113 | Hyperlysinemia | AR |
ABAT | 137150 | GABA-transaminase deficiency | AR |
ABCA1 | 600046 | HDL deficiency, familial, 1;Tangier disease | AD, AR |
ABCA7 | 605414 | Alzheimer disease 9, susceptibility to | AD |
ABCB6 | 605452 | Microphthalmia, isolated, with coloboma 7;[Blood group, Langereis system];Dyschromatosis universalis hereditaria 3;Pseudohyperkalemia, familial, 2, due to red cell leak | AD |
ABCB7 | 300135 | Anemia, sideroblastic, with ataxia | XLR |
ABCC6 | 603234 | Pseudoxanthoma elasticum, forme fruste;Arterial calcification, generalized, of infancy, 2;Pseudoxanthoma elasticum | AD, AR |
ABCC8 | 600509 | Diabetes mellitus, transient neonatal 2;Diabetes mellitus, noninsulin-dependent;Hyperinsulinemic hypoglycemia, familial, 1;Hypoglycemia of infancy, leucine-sensitive;Diabetes mellitus, permanent neonatal 3, with or without neurologic features | AD, AD, AR |
ABCD1 | 300371 | Adrenoleukodystrophy;Adrenomyeloneuropathy, adult | XLR |
ABCD3 | 170995 | ?Bile acid synthesis defect, congenital, 5 | AR |
ABCD4 | 603214 | Methylmalonic aciduria and homocystinuria, cblJ type | AR |
ABHD12 | 613599 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | AR |
ABHD5 | 604780 | Chanarin-Dorfman syndrome | AR |
ACACA | 200350 | Acetyl-CoA carboxylase deficiency | AR |
ACAD8 | 604773 | Isobutyryl-CoA dehydrogenase deficiency | AR |
ACAD9 | 611103 | MT complex I deficiency, nuclear type 20 | AR |
ACADM | 607008 | Acyl-CoA dehydrogenase, medium chain, deficiency of | AR |
ACADS | 606885 | Acyl-CoA dehydrogenase, short-chain, deficiency of | AR |
ACADSB | 600301 | 2-methylbutyrylglycinuria | AR |
ACADVL | 609575 | VLCAD deficiency | AR |
ACAT1 | 607809 | Alpha-methylacetoacetic aciduria | AR |
ACE | 106180 | Microvascular complications of diabetes 3;Stroke, hemorrhagic;Renal tubular dysgenesis | AR |
ACHE | 100740 | [Blood group, Yt system] | |
ACO2 | 100850 | ?Optic atrophy 9;Infantile cerebellar-retinal degeneration | AR |
ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency;Mitchell syndrome | AR, AD |
ACSF3 | 614245 | Combined malonic and methylmalonic aciduria | |
ACSL4 | 300157 | Mental retardation, X-linked 63 | XLD |
ACTA1 | 102610 | Nemaline myopathy 3, AD or recessive;?Myopathy, scapulohumeroperoneal;Myopathy, congenital, with fiber-type disproportion 1;Myopathy, actin, congenital, with cores;Myopathy, actin, congenital, with excess of thin myofilaments | AD, AR, AD |
ACTA2 | 102620 | Aortic aneurysm, familial thoracic 6;Moyamoya disease 5;Multisystemic smooth muscle dysfunction syndrome | AD |
ACTB | 102630 | Baraitser-Winter syndrome 1;?Dystonia, juvenile-onset | AD |
ACTG1 | 102560 | Baraitser-Winter syndrome 2;Deafness, AD 20/26 | AD |
ACTG2 | 102545 | Visceral myopathy;Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | AD |
ACTL6B | 612458 | Developmental and epileptic encephalopathy 76;Intellectual developmental disorder with severe speech and ambulation defects | AR, AD |
ACTN4 | 604638 | Glomerulosclerosis, focal segmental, 1 | AD |
ACVRL1 | 601284 | Telangiectasia, hereditary hemorrhagic, type 2 | AD |
ACY1 | 104620 | Aminoacylase 1 deficiency | AR |
ADA | 608958 | Adenosine deaminase deficiency, partial;Severe combined immunodeficiency due to ADA deficiency | AR, SM |
ADAM10 | 602192 | Alzheimer disease 18, susceptibility to;Reticulate acropigmentation of Kitamura | AD |
ADAM22 | 603709 | ?Developmental and epileptic encephalopathy 61 | AR |
ADAMTS10 | 608990 | Weill-Marchesani syndrome 1, recessive | AR |
ADAMTSL2 | 612277 | Geleophysic dysplasia 1 | AR |
ADAR | 146920 | Aicardi-Goutieres syndrome 6;Dyschromatosis symmetrica hereditaria | AR, AD |
ADAT3 | 615302 | Mental retardation, autosomal recessive 36 | AR |
ADCY5 | 600293 | Dyskinesia with orofacial involvement, AR;Neurodevelopmental disorder with hyperkinetic movements and dyskinesia;Dyskinesia, familial, with facial myokymia | AR, AD |
ADGRG1 | 604110 | Polymicrogyria, bilateral perisylvian;Polymicrogyria, bilateral frontoparietal | AR |
ADGRG6 | 612243 | Lethal congenital contracture syndrome 9 | AR |
ADGRV1 | 602851 | Usher syndrome, type 2C;?Febrile seizures, familial, 4;Usher syndrome, type 2C, GPR98/PDZD7 digenic | AR, DD, AD |
ADK | 102750 | Hypermethioninemia due to adenosine kinase deficiency | AR |
ADNP | 611386 | Helsmoortel-van der Aa syndrome | AD |
ADPRS | 610624 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | AR |
ADSL | 608222 | Adenylosuccinase deficiency | AR |
AFF2 | 300806 | Mental retardation, X-linked, FRAXE type | XLR |
AFF3 | 601464 | KINSSHIP syndrome | AD |
AFG3L2 | 604581 | Spinocerebellar ataxia 28;Spastic ataxia 5, AR;Optic atrophy 12 | AD, AR |
AGA | 613228 | Aspartylglucosaminuria | AR |
AGK | 610345 | Sengers syndrome;Cataract 38, AR | AR |
AGL | 610860 | Glycogen storage disease IIIb;Glycogen storage disease IIIa | AR |
AGPS | 603051 | Rhizomelic chondrodysplasia punctata, type 3 | AR |
AGRN | 103320 | Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects | AR |
AGTPBP1 | 606830 | Neurodegeneration, childhood-onset, with cerebellar atrophy | AR |
AGXT | 604285 | Hyperoxaluria, primary, type 1 | AR |
AHCY | 180960 | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | AR |
AHDC1 | 615790 | Xia-Gibbs syndrome | AD |
AHI1 | 608894 | Joubert syndrome 3 | AR |
AIFM1 | 300169 | Cowchock syndrome;Combined oxidative phosphorylation deficiency 6;Deafness, X-linked 5;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy | XLR |
AIMP1 | 603605 | Leukodystrophy, hypomyelinating, 3 | AR |
AIMP2 | 600859 | Leukodystrophy, hypomyelinating, 17 | AR |
AK2 | 103020 | Reticular dysgenesis | AR |
AKT3 | 611223 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | AD |
ALAD | 125270 | Porphyria, acute hepatic;Lead poisoning, susceptibility to | AR |
ALAS2 | 301300 | Protoporphyria, erythropoietic, X-linked;Anemia, sideroblastic, 1 | XL, XLR |
ALDH18A1 | 138250 | Cutis laxa, AD 3;Cutis laxa, autosomal recessive, type IIIA;Spastic paraplegia 9B, AR;Spastic paraplegia 9A, AD | AD, AR |
ALDH2 | 100650 | Alcohol sensitivity, acute;Hangover, susceptibility to | AD |
ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
ALDH4A1 | 606811 | Hyperprolinemia, type II | AR |
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
ALDH6A1 | 603178 | Methylmalonate semialdehyde dehydrogenase deficiency | AR |
ALDH7A1 | 107323 | Epilepsy, pyridoxine-dependent | AR |
ALDOA | 103850 | Glycogen storage disease XII | AR |
ALDOB | 612724 | Fructose intolerance, hereditary | AR |
ALG1 | 605907 | Congenital disorder of glycosylation, type Ik | AR |
ALG11 | 613666 | Congenital disorder of glycosylation, type Ip | AR |
ALG12 | 607144 | Congenital disorder of glycosylation, type Ig | AR |
ALG13 | 300776 | ?Congenital disorder of glycosylation, type Is;Developmental and epileptic encephalopathy 36 | XL |
ALG14 | 612866 | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies;?Myasthenic syndrome, congenital, 15, without tubular aggregates;Myopathy, epilepsy, and progressive cerebral atrophy | AR |
ALG2 | 607905 | ?Congenital disorder of glycosylation, type Ii;Myasthenic syndrome, congenital, 14, with tubular aggregates | AR |
ALG3 | 608750 | Congenital disorder of glycosylation, type Id | AR |
ALG6 | 604566 | Congenital disorder of glycosylation, type Ic | AR |
ALG8 | 608103 | Polycystic liver disease 3 with or without kidney cysts;Congenital disorder of glycosylation, type Ih | AD, AR |
ALG9 | 606941 | Congenital disorder of glycosylation, type Il;Gillessen-Kaesbach-Nishimura syndrome | AR |
ALPL | 171760 | Hypophosphatasia, infantile;Odontohypophosphatasia;Hypophosphatasia, childhood;Hypophosphatasia, adult | AR, AD, AR |
ALS2 | 606352 | Amyotrophic lateral sclerosis 2, juvenile;Spastic paralysis, infantile onset ascending;Primary lateral sclerosis, juvenile | AR |
ALX1 | 601527 | Frontonasal dysplasia 3 | AR |
ALX3 | 606014 | Frontonasal dysplasia 1 | AR |
ALX4 | 605420 | Craniosynostosis 5, susceptibility to;Parietal foramina 2;Frontonasal dysplasia 2 | AD, AR |
AMACR | 604489 | Bile acid synthesis defect, congenital, 4;Alpha-methylacyl-CoA racemase deficiency | AR |
AMMECR1 | 300195 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | XLR |
AMPD1 | 102770 | Myopathy due to myoadenylate deaminase deficiency | AR |
AMPD2 | 102771 | ?Spastic paraplegia 63;Pontocerebellar hypoplasia, type 9 | AR |
AMT | 238310 | Glycine encephalopathy | AR |
ANG | 105850 | Amyotrophic lateral sclerosis 9 | |
ANK2 | 106410 | Long QT syndrome 4;Cardiac arrhythmia, ankyrin-B-related | AD |
ANK3 | 600465 | Mental retardation, autosomal recessive, 37 | AR |
ANKLE2 | 616062 | Microcephaly 16, primary, AR | AR |
ANKRD11 | 611192 | KBG syndrome | AD |
ANO10 | 613726 | Spinocerebellar ataxia, autosomal recessive 10 | AR |
ANO3 | 610110 | Dystonia 24 | AD |
ANO5 | 608662 | Gnathodiaphyseal dysplasia;Muscular dystrophy, limb-girdle, autosomal recessive 12;Miyoshi muscular dystrophy 3 | AD, AR |
ANTXR2 | 608041 | Hyaline fibromatosis syndrome | AR |
ANXA11 | 602572 | Amytrophic lateral sclerosis 23;Inclusion body myopathy and brain white matter abnormalities | AD |
AP1S1 | 603531 | MEDNIK syndrome | AR |
AP1S2 | 300629 | Mental retardation, X-linked syndromic 5 | XLR |
AP2M1 | 601024 | Intellectual developmental disorder 60 with seizures | AD |
AP3B1 | 603401 | Hermansky-Pudlak syndrome 2 | AR |
AP3B2 | 602166 | Developmental and epileptic encephalopathy 48 | AR |
AP4B1 | 607245 | Spastic paraplegia 47, AR | AR |
AP4E1 | 607244 | Stuttering, familial persistent, 1;Spastic paraplegia 51, AR | AD, AR |
AP4M1 | 602296 | Spastic paraplegia 50, AR | AR |
AP4S1 | 607243 | Spastic paraplegia 52, AR | AR |
AP5Z1 | 613653 | Spastic paraplegia 48, AR | AR |
APOE | 107741 | Sea-blue histiocyte disease;Lipoprotein glomerulopathy;?Alzheimer disease, protection against, due to APOE3-Christchurch;Hyperlipoproteinemia, type III;Coronary artery disease, severe, susceptibility to;?Macular degeneration, age-related;Alzheimer disease 2 | AR, AD |
APP | 104760 | Alzheimer disease 1, familial;Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants | AD |
APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
ARFGEF2 | 605371 | Periventricular heterotopia with microcephaly | AR |
ARG1 | 608313 | Argininemia | AR |
ARHGAP31 | 610911 | Adams-Oliver syndrome 1 | AD |
ARHGEF10 | 608136 | ?Slowed nerve conduction velocity, AD | AD |
ARHGEF6 | 300267 | ||
ARHGEF9 | 300429 | Developmental and epileptic encephalopathy 8 | XL |
ARID1A | 603024 | Coffin-Siris syndrome 2 | AD |
ARID1B | 614556 | Coffin-Siris syndrome 1 | AD |
ARID2 | 609539 | Coffin-Siris syndrome 6 | AD |
ARL13B | 608922 | Joubert syndrome 8 | AR |
ARL6 | 608845 | Retinitis pigmentosa 55;Bardet-Biedl syndrome 1, modifier of;Bardet-Biedl syndrome 3 | AR, AR, DR |
ARL6IP1 | 607669 | ?Spastic paraplegia 61, AR | AR |
ARSA | 607574 | Metachromatic leukodystrophy | AR |
ARSB | 611542 | Mucopolysaccharidosis type VI (Maroteaux-Lamy) | AR |
ARSL | 300180 | Chondrodysplasia punctata, XLR | XLR |
ARV1 | 611647 | Developmental and epileptic encephalopathy 38 | AR |
ARX | 300382 | Developmental and epileptic encephalopathy 1;Mental retardation, X-linked 29 and others;Hydranencephaly with abnormal genitalia;Partington syndrome;Lissencephaly, X-linked 2;Proud syndrome | XLR, XL |
ASAH1 | 613468 | Spinal muscular atrophy with progressive myoclonic epilepsy;Farber lipogranulomatosis | AR |
ASCC1 | 614215 | Spinal muscular atrophy with congenital bone fractures 2;Barrett esophagus/esophageal adenocarcinoma | AR |
ASCL1 | 100790 | Central hypoventilation syndrome, congenital;Haddad syndrome | AD |
ASH1L | 607999 | Mental retardation, AD 52 | AD |
ASL | 608310 | Argininosuccinic aciduria | AR |
ASNS | 108370 | Asparagine synthetase deficiency | AR |
ASPA | 608034 | Canavan disease | AR |
ASPM | 605481 | Microcephaly 5, primary, AR | AR |
ASS1 | 603470 | Citrullinemia | AR |
ASTN2 | 612856 | ||
ASXL1 | 612990 | Bohring-Opitz syndrome;Myelodysplastic syndrome, somatic | AD |
ASXL3 | 615115 | Bainbridge-Ropers syndrome | AD |
ATAD1 | 614452 | Hyperekplexia 4 | AR |
ATCAY | 608179 | Ataxia, cerebellar, Cayman type | AR |
ATIC | 601731 | AICA-ribosiduria due to ATIC deficiency | AR |
ATL1 | 606439 | Spastic paraplegia 3A, AD;Neuropathy, hereditary sensory, type ID | AD |
ATM | 607585 | Breast cancer, susceptibility to;Ataxia-telangiectasia | AD, SM, AR |
ATN1 | 607462 | Dentatorubral-pallidoluysian atrophy;Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | AD |
ATP13A2 | 610513 | Spastic paraplegia 78, AR;Kufor-Rakeb syndrome | AR |
ATP1A1 | 182310 | Hypomagnesemia, seizures, and mental retardation 2;Charcot-Marie-Tooth disease, axonal, type 2DD | AD |
ATP1A2 | 182340 | Developmental and epileptic encephalopathy 98;Alternating hemiplegia of childhood 1;Migraine, familial basilar;Migraine, familial hemiplegic, 2;Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | AD, AR |
ATP1A3 | 182350 | Alternating hemiplegia of childhood 2;Dystonia-12;Developmental and epileptic encephalopathy 99;CAPOS syndrome | AD |
ATP2A1 | 108730 | Brody myopathy | AR |
ATP2A2 | 108740 | Acrokeratosis verruciformis;Darier disease | AD |
ATP2B3 | 300014 | ?Spinocerebellar ataxia, X-linked 1 | XLR |
ATP2B4 | 108732 | ||
ATP5F1A | 164360 | ?MT complex V (ATP synthase) deficiency, nuclear type 4;?Combined oxidative phosphorylation deficiency 22 | AR |
ATP5F1E | 606153 | ?MT complex V (ATP synthase) deficiency, nuclear type 3 | AR |
ATP6AP1 | 300197 | Immunodeficiency 47 | XLR |
ATP6AP2 | 300556 | Mental retardation, X-linked, syndromic, Hedera type;?Parkinsonism with spasticity, X-linked;Congenital disorder of glycosylation, type IIr | XLR |
ATP6V0A2 | 611716 | Cutis laxa, autosomal recessive, type IIA;Wrinkly skin syndrome | AR |
ATP6V1A | 607027 | Epileptic encephalopathy, infantile or early childhood, 3;Cutis laxa, autosomal recessive, type IID | AD, AR |
ATP7A | 300011 | Menkes disease;Occipital horn syndrome;Spinal muscular atrophy, distal, X-linked 3 | XLR |
ATP7B | 606882 | Wilson disease | AR |
ATP8A2 | 605870 | ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | AR |
ATPAF2 | 608918 | ?MT complex V (ATP synthase) deficiency, nuclear type 1 | AR |
ATR | 601215 | ?Cutaneous telangiectasia and cancer syndrome, familial;Seckel syndrome 1 | AD, AR |
ATRX | 300032 | Mental retardation-hypotonic facies syndrome, X-linked;Alpha-thalassemia/mental retardation syndrome;Alpha-thalassemia myelodysplasia syndrome, somatic | XLR, XLD |
AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
AUTS2 | 607270 | Mental retardation, AD 26 | AD |
B3GALNT2 | 610194 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 | AR |
B3GLCT | 610308 | Peters-plus syndrome | AR |
B4GALNT1 | 601873 | Spastic paraplegia 26, AR | AR |
B4GALT1 | 137060 | Congenital disorder of glycosylation, type IId | AR |
B4GAT1 | 605517 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 | AR |
B9D1 | 614144 | ?Meckel syndrome 9;Joubert syndrome 27 | AR |
B9D2 | 611951 | ?Meckel syndrome 10;Joubert syndrome 34 | AR |
BAG3 | 603883 | Cardiomyopathy, dilated, 1HH;Myopathy, myofibrillar, 6 | AD |
BBS1 | 209901 | Bardet-Biedl syndrome 1 | AR, DR |
BBS10 | 610148 | Bardet-Biedl syndrome 10 | AR |
BBS12 | 610683 | Bardet-Biedl syndrome 12 | AR |
BBS2 | 606151 | Bardet-Biedl syndrome 2;Retinitis pigmentosa 74 | AR |
BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
BBS5 | 603650 | Bardet-Biedl syndrome 5 | AR |
BBS7 | 607590 | Bardet-Biedl syndrome 7 | AR |
BBS9 | 607968 | Bardet-Biedl syndrome 9 | AR |
BCAP31 | 300398 | Deafness, dystonia, and cerebral hypomyelination | XLR |
BCKDHA | 608348 | Maple syrup urine disease, type Ia | AR |
BCKDHB | 248611 | Maple syrup urine disease, type Ib | AR |
BCKDK | 614901 | Branched-chain ketoacid dehydrogenase kinase deficiency | |
BCL11A | 606557 | Dias-Logan syndrome | AD |
BCOR | 300485 | Microphthalmia, syndromic 2 | XLD |
BCS1L | 603647 | GRACILE syndrome;Bjornstad syndrome;MT complex III deficiency, nuclear type 1 | AR |
BDNF | 113505 | ||
BEST1 | 607854 | Macular dystrophy, vitelliform, 2;Retinitis pigmentosa-50;?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2;Vitreoretinochoroidopathy;Bestrophinopathy, AR;Retinitis pigmentosa, concentric | AD |
BICD2 | 609797 | Spinal muscular atrophy, lower extremity-predominant, 2A, AD;Spinal muscular atrophy, lower extremity-predominant, 2B, AD | AD |
BIN1 | 601248 | Centronuclear myopathy 2 | AR |
BLOC1S1 | 601444 | ||
BLOC1S3 | 609762 | Hermansky-Pudlak syndrome 8 | AR |
BLOC1S6 | 604310 | ?Hermansky-pudlak syndrome 9 | AR |
BOLA3 | 613183 | Multiple MT dysfunctions syndrome 2 with hyperglycinemia | AR |
BRAF | 164757 | Cardiofaciocutaneous syndrome;Adenocarcinoma of lung, somatic;Noonan syndrome 7;Colorectal cancer, somatic;Melanoma, malignant, somatic,;LEOPARD syndrome 3 | AD |
BRAT1 | 614506 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures;Rigidity and multifocal seizure syndrome, lethal neonatal | AR |
BRWD3 | 300553 | Mental retardation, X-linked 93 | XLR |
BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2;Encephalopathy, progressive, with or without lipodystrophy;Silver spastic paraplegia syndrome;Neuropathy, distal hereditary motor, type VC | AR, AD |
BSND | 606412 | Bartter syndrome, type 4a;Sensorineural deafness with mild renal dysfunction | AR |
BTD | 609019 | Biotinidase deficiency | AR |
BVES | 604577 | Muscular dystrophy, limb-girdle, autosomal recessive 25 | AR |
C1QBP | 601269 | Combined oxidative phosphorylation deficiency 33 | AR |
CA2 | 611492 | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis | AR |
CA5A | 114761 | Hyperammonemia due to carbonic anhydrase VA deficiency | AR |
CA8 | 114815 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 | AR |
CACNA1A | 601011 | Episodic ataxia, type 2;Migraine, familial hemiplegic, 1;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia;Spinocerebellar ataxia 6;Developemental and epileptic encephalopathy 42 | AD |
CACNA1B | 601012 | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | AR |
CACNA1C | 114205 | Long QT syndrome 8;Brugada syndrome 3;Timothy syndrome | AD |
CACNA1D | 114206 | Primary aldosteronism, seizures, and neurologic abnormalities;Sinoatrial node dysfunction and deafness | AD, AR |
CACNA1E | 601013 | Developmental and epileptic encephalopathy 69 | AD |
CACNA1F | 300110 | Aland Island eye disease;Night blindness, congenital stationary (incomplete), 2A, X-linked;Cone-rod dystrophy, X-linked, 3 | XL, XLR |
CACNA1G | 604065 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits;Spinocerebellar ataxia 42 | AD |
CACNA1H | 607904 | Hyperaldosteronism, familial, type IV;Epilepsy, childhood absence, susceptibility to, 6;Epilepsy, idiopathic generalized, susceptibility to, 6 | AD |
CACNA1S | 114208 | Thyrotoxic periodic paralysis, susceptibility to, 1;Malignant hyperthermia susceptibility 5;Malignant hyperthermia, susceptibility to, 5;Hypokalemic periodic paralysis, type 1 | AD |
CACNA2D2 | 607082 | Cerebellar atrophy with seizures and variable developmental delay | AR |
CACNB2 | 600003 | Brugada syndrome 4 | |
CACNB4 | 601949 | Epilepsy, juvenile myoclonic, susceptibility to, 6;Epilepsy, idiopathic generalized, susceptibility to, 9;Episodic ataxia, type 5 | AD |
CAD | 114010 | Developmental and epileptic encephalopathy 50 | AR |
CAMK2A | 114078 | ?Mental retardation, autosomal recessive 63;Mental retardation, AD 53 | AR, AD |
CAMK2B | 607707 | Mental retardation, AD 54 | AD |
CAMK2G | 602123 | Mental retardation, AD 59 | AD |
CAMTA1 | 611501 | Cerebellar ataxia, nonprogressive, with mental retardation | AD |
CAPN1 | 114220 | Spastic paraplegia 76, AR | AR |
CAPN3 | 114240 | Muscular dystrophy, limb-girdle, AD 4;Muscular dystrophy, limb-girdle, autosomal recessive 1 | AD, AR |
CARD11 | 607210 | Immunodeficiency 11A;Immunodeficiency 11B with atopic dermatitis;B-cell expansion with NFKB and T-cell anergy | AR, AD |
CARS2 | 612800 | Combined oxidative phosphorylation deficiency 27 | AR |
CASK | 300172 | Mental retardation, with or without nystagmus;Mental retardation and microcephaly with pontine and cerebellar hypoplasia;FG syndrome 4 | XLD |
CASQ1 | 114250 | Myopathy, vacuolar, with CASQ1 aggregates | AD |
CASR | 601199 | Epilepsy idiopathic generalized, susceptibility to, 8;Hypocalcemia, AD, with Bartter syndrome;Hypocalciuric hypercalcemia, type I;Hyperparathyroidism, neonatal;Hypocalcemia, AD | AD, AD, AR |
CAT | 115500 | Acatalasemia | |
CAV1 | 601047 | Pulmonary hypertension, primary, 3;Lipodystrophy, familial partial, type 7;?Lipodystrophy, congenital generalized, type 3 | AD, AR |
CAV3 | 601253 | Rippling muscle disease 2;Cardiomyopathy, familial hypertrophic;Creatine phosphokinase, elevated serum;Long QT syndrome 9;Myopathy, distal, Tateyama type | AD, AD, DD |
CAVIN1 | 603198 | Lipodystrophy, congenital generalized, type 4 | AR |
CBL | 165360 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;?Juvenile myelomonocytic leukemia | AD, AD, SM |
CBS | 613381 | Thrombosis, hyperhomocysteinemic;Homocystinuria, B6-responsive and nonresponsive types | AR |
CC2D1A | 610055 | Mental retardation, autosomal recessive 3 | AR |
CC2D2A | 612013 | Meckel syndrome 6;Joubert syndrome 9;COACH syndrome 2 | AR |
CCDC115 | 613734 | Congenital disorder of glycosylation, type IIo | AR |
CCDC22 | 300859 | Ritscher-Schinzel syndrome 2 | XLR |
CCDC40 | 613799 | Ciliary dyskinesia, primary, 15 | AR |
CCDC78 | 614666 | ?Centronuclear myopathy 4 | AD |
CCDC88A | 609736 | ?PEHO syndrome-like | AR |
CCDC88C | 611204 | Hydrocephalus, congenital, 1;?Spinocerebellar ataxia 40 | AR, AD |
CCM2 | 607929 | Cerebral cavernous malformations-2 | AD |
CCNF | 600227 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | |
CCT5 | 610150 | Neuropathy, hereditary sensory, with spastic paraplegia | AR |
CD320 | 606475 | Methylmalonic aciduria, transient, due to transcobalamin receptor defect | |
CD59 | 107271 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy | AR |
CD96 | 606037 | C syndrome | AD |
CDH11 | 600023 | Teebi hypertelorism syndrome 2;Elsahy-Waters syndrome | AD, AR |
CDH15 | 114019 | Mental retardation, AD 3 | |
CDK5RAP2 | 608201 | Microcephaly 3, primary, AR | AR |
CDKL5 | 300203 | Developmental and epileptic encephalopathy 2 | XLD |
CDON | 608707 | Holoprosencephaly 11 | AD |
CEL | 114840 | Maturity-onset diabetes of the young, type VIII | AD |
CENPF | 600236 | Stromme syndrome | AR |
CENPJ | 609279 | ?Seckel syndrome 4;Microcephaly 6, primary, AR | AR |
CEP135 | 611423 | Microcephaly 8, primary, AR | AR |
CEP152 | 613529 | Microcephaly 9, primary, AR;Seckel syndrome 5 | AR |
CEP164 | 614848 | Nephronophthisis 15 | AR |
CEP290 | 610142 | Leber congenital amaurosis 10;Meckel syndrome 4;?Bardet-Biedl syndrome 14;Senior-Loken syndrome 6;Joubert syndrome 5 | AR |
CEP41 | 610523 | Joubert syndrome 15 | AR |
CEP63 | 614724 | ?Seckel syndrome 6 | AR |
CERS1 | 606919 | ?Epilepsy, progressive myoclonic, 8 | AR |
CERT1 | 604677 | Mental retardation, AD 34 | AD |
CFAP418 | 614477 | Retinitis pigmentosa 64;Cone-rod dystrophy 16;Bardet-Biedl syndrome 21 | AR |
CFL2 | 601443 | Nemaline myopathy 7, AR | AR |
CHAMP1 | 616327 | Mental retardation, AD 40 | AD |
CHAT | 118490 | Myasthenic syndrome, congenital, 6, presynaptic | AR |
CHCHD10 | 615903 | ?Myopathy, isolated MT, AD;Spinal muscular atrophy, Jokela type;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | AD |
CHCHD2 | 616244 | Parkinson disease 22, AD | AD |
CHD1 | 602118 | Pilarowski-Bjornsson syndrome | AD |
CHD2 | 602119 | Epileptic encephalopathy, childhood-onset | AD |
CHD3 | 602120 | Snijders Blok-Campeau syndrome | AD |
CHD7 | 608892 | CHARGE syndrome;Hypogonadotropic hypogonadism 5 with or without anosmia | AD |
CHD8 | 610528 | Autism, susceptibility to, 18 | AD |
CHKB | 612395 | Muscular dystrophy, congenital, megaconial type | AR |
CHL1 | 607416 | ||
CHMP1A | 164010 | Pontocerebellar hypoplasia, type 8 | AR |
CHMP2B | 609512 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | AD |
CHRNA1 | 100690 | Myasthenic syndrome, congenital, 1B, fast-channel;Myasthenic syndrome, congenital, 1A, slow-channel;Multiple pterygium syndrome, lethal type | AD, AR, AD, AR |
CHRNA2 | 118502 | Epilepsy, nocturnal frontal lobe, type 4 | AD |
CHRNA4 | 118504 | Nicotine addiction, susceptibility to;Epilepsy, nocturnal frontal lobe, 1 | AD |
CHRNA7 | 118511 | ||
CHRNB1 | 100710 | Myasthenic syndrome, congenital, 2A, slow-channel;?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency | AD, AR |
CHRNB2 | 118507 | Epilepsy, nocturnal frontal lobe, 3 | |
CHRND | 100720 | ?Myasthenic syndrome, congenital, 3A, slow-channel;Myasthenic syndrome, congenital, 3B, fast-channel;Multiple pterygium syndrome, lethal type;?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency | AD, AR |
CHRNE | 100725 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, 4A, slow-channel;Myasthenic syndrome, congenital, 4B, fast-channel | AR, AD, AR |
CHRNG | 100730 | Multiple pterygium syndrome, lethal type;Escobar syndrome | AR |
CHST14 | 608429 | Ehlers-Danlos syndrome, musculocontractural type 1 | AR |
CHSY1 | 608183 | Temtamy preaxial brachydactyly syndrome | AR |
CIB2 | 605564 | Usher syndrome, type IJ;Deafness, autosomal recessive 48 | AR |
CIC | 612082 | Mental retardation, AD 45 | AD |
CILK1 | 612325 | Endocrine-cerebroosteodysplasia;Epilepsy, juvenile myoclonic, susceptibility to, 10 | AR, AD |
CISD2 | 611507 | Wolfram syndrome 2 | AR |
CIT | 605629 | Microcephaly 17, primary, AR | AR |
CLCN1 | 118425 | Myotonia congenita, dominant;Myotonia congenita, recessive | AD, AR |
CLCN2 | 600570 | Epilepsy, juvenile absence, susceptibility to, 2;Hyperaldosteronism, familial, type II;Epilepsy, juvenile myoclonic, susceptibility to, 8;Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with ataxia | AD, AR |
CLCN4 | 302910 | Raynaud-Claes syndrome | XLD |
CLCNKA | 602024 | Bartter syndrome, type 4b, digenic | DR |
CLCNKB | 602023 | Bartter syndrome, type 3;Bartter syndrome, type 4b, digenic | AR, DR |
CLDN16 | 603959 | Hypomagnesemia 3, renal | AR |
CLDN19 | 610036 | Hypomagnesemia 5, renal, with ocular involvement | AR |
CLN3 | 607042 | Ceroid lipofuscinosis, neuronal, 3 | AR |
CLN5 | 608102 | Ceroid lipofuscinosis, neuronal, 5 | AR |
CLN6 | 606725 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset;Ceroid lipofuscinosis, neuronal, 6 | AR |
CLN8 | 607837 | Ceroid lipofuscinosis, neuronal, 8;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant | AR |
CLP1 | 608757 | Pontocerebellar hypoplasia, type 10 | AR |
CLPB | 616254 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia | AR |
CLPP | 601119 | Perrault syndrome 3 | AR |
CLTC | 118955 | Mental retardation, AD 56 | AD |
CNBP | 116955 | Myotonic dystrophy 2 | AD |
CNGB3 | 605080 | Achromatopsia 3 | AR |
CNKSR2 | 300724 | Mental retardation, X-linked, syndromic, Houge type | XL |
CNNM2 | 607803 | Hypomagnesemia 6, renal;Hypomagnesemia, seizures, and mental retardation | AD, AD, AR |
CNPY3 | 610774 | Developmental and epileptic encephalopathy 60 | AR |
CNTN4 | 607280 | ||
CNTNAP1 | 602346 | Lethal congenital contracture syndrome 7;Hypomyelinating neuropathy, congenital, 3 | AR |
CNTNAP2 | 604569 | Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1;Autism susceptibility 15 | AR |
COA5 | 613920 | ?MT complex IV, deficiency, nuclear type 9 | AR |
COA6 | 614772 | MT complex IV deficiency, nuclear type 13 | AR |
COA7 | 615623 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | AR |
COA8 | 616003 | MT complex IV deficiency, nuclear type 17 | AR |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6;Pontocerebellar hypoplasia, type 12 | AR |
COG1 | 606973 | Congenital disorder of glycosylation, type IIg | AR |
COG4 | 606976 | Congenital disorder of glycosylation, type IIj;Saul-Wilson syndrome | AR, AD |
COG5 | 606821 | Congenital disorder of glycosylation, type IIi | AR |
COG6 | 606977 | Shaheen syndrome;Congenital disorder of glycosylation, type IIl | AR |
COG7 | 606978 | Congenital disorder of glycosylation, type IIe | AR |
COG8 | 606979 | Congenital disorder of glycosylation, type IIh | |
COL11A2 | 120290 | Deafness, autosomal recessive 53;Otospondylomegaepiphyseal dysplasia, AR;Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, AD;Deafness, AD 13 | AR, AD, AR, AD |
COL12A1 | 120320 | ?Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 | AR, AD |
COL13A1 | 120350 | Myasthenic syndrome, congenital, 19 | AR |
COL18A1 | 120328 | Glaucoma, primary closed-angle;Knobloch syndrome, type 1 | AD, AR |
COL2A1 | 120140 | Legg-Calve-Perthes disease;Stickler syndrome, type I;Osteoarthritis with mild chondrodysplasia;Platyspondylic skeletal dysplasia, Torrance type;Spondyloepiphyseal dysplasia, Stanescu type;Kniest dysplasia;Czech dysplasia;Stickler sydrome, type I, nonsyndromic ocular;?Vitreoretinopathy with phalangeal epiphyseal dysplasia;?Epiphyseal dysplasia, multiple, with myopia and deafness;Avascular necrosis of the femoral head;Spondyloperipheral dysplasia;Achondrogenesis, type II or hypochondrogenesis;SMED Strudwick type;SED congenita | AD |
COL4A1 | 120130 | ?Retinal arteries, tortuosity of;Hemorrhage, intracerebral, susceptibility to;Microangiopathy and leukoencephalopathy, pontine, AD;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with or without ocular anomalies | AD |
COL4A2 | 120090 | Hemorrhage, intracerebral, susceptibility to;Brain small vessel disease 2 | AD |
COL6A1 | 120220 | Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1 | AD, AR |
COL6A2 | 120240 | Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;?Myosclerosis, congenital | AD, AR, AR |
COL6A3 | 120250 | Dystonia 27;Ullrich congenital muscular dystrophy 1;Bethlem myopathy 1 | AR, AD, AR |
COLGALT1 | 617531 | Brain small vessel disease 3 | AR |
COLQ | 603033 | Myasthenic syndrome, congenital, 5 | AR |
COMT | 116790 | Panic disorder, susceptibility to;Schizophrenia, susceptibility to | ?AD, AD |
COQ2 | 609825 | Coenzyme Q10 deficiency, primary, 1;Multiple system atrophy, susceptibility to | AR, AD, AR |
COQ4 | 612898 | Coenzyme Q10 deficiency, primary, 7 | AR |
COQ6 | 614647 | Coenzyme Q10 deficiency, primary, 6 | AR |
COQ7 | 601683 | ?Coenzyme Q10 deficiency, primary, 8 | AR |
COQ8A | 606980 | Coenzyme Q10 deficiency, primary, 4 | AR |
COQ8B | 615567 | Nephrotic syndrome, type 9 | AR |
COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
COX10 | 602125 | MT complex IV deficiency, nuclear type 3 | AR |
COX14 | 614478 | ?MT complex IV deficiency, nuclear type 10 | AR |
COX15 | 603646 | MT complex IV deficiency, nuclear type 6 | AR |
COX20 | 614698 | MT complex IV deficiency, nuclear type 11 | AR |
COX4I2 | 607976 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis | AR |
COX6A1 | 602072 | Charcot-Marie-Tooth disease, recessive intermediate D | AR |
COX6B1 | 124089 | MT complex IV deficiency, nuclear type 7 | AR |
COX7B | 300885 | Linear skin defects with multiple congenital anomalies 2 | XLD |
CP | 117700 | Cerebellar ataxia;Hemosiderosis, systemic, due to aceruloplasminemia;[Hypoceruloplasminemia, hereditary] | AR |
CPA6 | 609562 | Febrile seizures, familial, 11;Epilepsy, familial temporal lobe, 5 | AR, AD, AR |
CPLANE1 | 614571 | Orofaciodigital syndrome VI;Joubert syndrome 17 | AR |
CPLX1 | 605032 | Developmental and epileptic encephalopathy 63 | AR |
CPOX | 612732 | Harderoporphyria;Coproporphyria | AR, AD, AR |
CPS1 | 608307 | Carbamoylphosphate synthetase I deficiency;Pulmonary hypertension, neonatal, susceptibility to | AR |
CPT1A | 600528 | CPT deficiency, hepatic, type IA | AR |
CPT1C | 608846 | ?Spastic paraplegia 73, AD | AD |
CPT2 | 600650 | CPT II deficiency, myopathic, stress-induced;CPT II deficiency, infantile;Encephalopathy, acute, infection-induced, 4, susceptibility to;CPT II deficiency, lethal neonatal | AD, AR, AR |
CRADD | 603454 | Mental retardation, autosomal recessive 34, with variant lissencephaly | AR |
CRBN | 609262 | Mental retardation, autosomal recessive 2 | AR |
CREBBP | 600140 | Menke-Hennekam syndrome 1;Rubinstein-Taybi syndrome 1 | AD |
CRIPT | 604594 | Short stature with microcephaly and distinctive facies | AR |
CRLF1 | 604237 | Cold-induced sweating syndrome 1 | AR |
CRPPA | 614631 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | AR |
CRYAB | 123590 | Cataract 16, multiple types;Cardiomyopathy, dilated, 1II;Myopathy, myofibrillar, 2;Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related | AD, AR, AD, AR |
CSF1R | 164770 | Brain abnormalities, neurodegeneration, and dysosteosclerosis;Leukoencephalopathy, diffuse hereditary, with spheroids | AR, AD |
CSMD1 | 608397 | ||
CSNK2B | 115441 | Poirier-Bienvenu neurodevelopmental syndrome | AD |
CSPP1 | 611654 | Joubert syndrome 21 | AR |
CSRP3 | 600824 | ?Cardiomyopathy, dilated, 1M;Cardiomyopathy, hypertrophic, 12 | AD |
CST3 | 604312 | Macular degeneration, age-related, 11;Cerebral amyloid angiopathy | AD |
CSTB | 601145 | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | AR |
CTC1 | 613129 | Cerebroretinal microangiopathy with calcifications and cysts | AR |
CTCF | 604167 | Mental retardation, AD 21 | AD |
CTDP1 | 604927 | Congenital cataracts, facial dysmorphism, and neuropathy | AR |
CTNNA2 | 114025 | Cortical dysplasia, complex, with other brain malformations 9 | AR |
CTNNA3 | 607667 | Arrhythmogenic right ventricular dysplasia, familial, 13 | AD |
CTNNB1 | 116806 | Ovarian cancer, somatic;Colorectal cancer, somatic;Pilomatricoma, somatic;Neurodevelopmental disorder with spastic diplegia and visual defects;Exudative vitreoretinopathy 7;Medulloblastoma, somatic;Hepatocellular carcinoma, somatic | AD |
CTNS | 606272 | Cystinosis, late-onset juvenile or adolescent nephropathic;Cystinosis, ocular nonnephropathic;Cystinosis, nephropathic;Cystinosis, atypical nephropathic | AR |
CTSA | 613111 | Galactosialidosis | AR |
CTSC | 602365 | Periodontitis 1, juvenile;Haim-Munk syndrome;Papillon-Lefevre syndrome | AR |
CTSD | 116840 | Ceroid lipofuscinosis, neuronal, 10 | AR |
CTSF | 603539 | Ceroid lipofuscinosis, neuronal, 13, Kufs type | AR |
CTSK | 601105 | Pycnodysostosis | AR |
CUL3 | 603136 | Pseudohypoaldosteronism, type IIE;Neurodevelopmental disorder with or without autism or seizures | AD |
CUL4B | 300304 | Mental retardation, X-linked, syndromic 15 (Cabezas type) | XLR |
CUL7 | 609577 | 3-M syndrome 1 | AR |
CUX1 | 116896 | Global developmental delay with or without impaired intellectual development | AD |
CUX2 | 610648 | Developmental and epileptic encephalopathy 67 | AD |
CWF19L1 | 616120 | Spinocerebellar ataxia, autosomal recessive 17 | AR |
CX3CR1 | 601470 | Macular degeneration, age-related, 12;Coronary artery disease, resistance to;Rapid progression to AIDS from HIV1 infection | |
CYB5A | 613218 | Methemoglobinemia and ambiguous genitalia | AR |
CYB5R3 | 613213 | Methemoglobinemia, type I;Methemoglobinemia, type II | AR |
CYC1 | 123980 | MT complex III deficiency, nuclear type 6 | AR |
CYCS | 123970 | Thrombocytopenia 4 | AD |
CYFIP2 | 606323 | Developmental and epileptic encephalopathy 65 | AD |
CYLD | 605018 | Trichoepithelioma, multiple familial, 1;?Frontotemporal dementia and/or amytrophic lateral sclerosis 8;Cylindromatosis, familial;Brooke-Spiegler syndrome | AD |
CYP11A1 | 118485 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete | |
CYP11B1 | 610613 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency;Aldosteronism, glucocorticoid-remediable | AR, AD |
CYP11B2 | 124080 | Hypoaldosteronism, congenital, due to CMO II deficiency;Hypoaldosteronism, congenital, due to CMO I deficiency | AR |
CYP24A1 | 126065 | Hypercalcemia, infantile, 1 | AR |
CYP27A1 | 606530 | Cerebrotendinous xanthomatosis | AR |
CYP27B1 | 609506 | Vitamin D-dependent rickets, type I | AR |
CYP2U1 | 610670 | Spastic paraplegia 56, AR | AR |
CYP7B1 | 603711 | Spastic paraplegia 5A, AR;Bile acid synthesis defect, congenital, 3 | AR |
D2HGDH | 609186 | D-2-hydroxyglutaric aciduria | AR |
DAB1 | 603448 | Spinocerebellar ataxia 37 | AD |
DAG1 | 128239 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 | AR |
DARS1 | 603084 | Hypomyelination with brainstem and spinal cord involvement and leg spasticity | AR |
DARS2 | 610956 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
DBT | 248610 | Maple syrup urine disease, type II | AR |
DCAF17 | 612515 | Woodhouse-Sakati syndrome | AR |
DCTN1 | 601143 | Perry syndrome;Neuronopathy, distal hereditary motor, type VIIB;Amyotrophic lateral sclerosis, susceptibility to | AD, AD, AR |
DCX | 300121 | Lissencephaly, X-linked;Subcortical laminal heterotopia, XL | XL |
DDC | 107930 | Aromatic L-amino acid decarboxylase deficiency | AR |
DDHD1 | 614603 | Spastic paraplegia 28, AR | AR |
DDHD2 | 615003 | Spastic paraplegia 54, AR | AR |
DDOST | 602202 | ?Congenital disorder of glycosylation, type Ir | AR |
DDX3X | 300160 | Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type | XLD, XLR |
DEAF1 | 602635 | Vulto-van Silfout-de Vries syndrome;Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures | AD, AR |
DEGS1 | 615843 | Leukodystrophy, hypomyelinating, 18 | AR |
DENND5A | 617278 | Developmental and epileptic encephalopathy 49 | AR |
DEPDC5 | 614191 | Epilepsy, familial focal, with variable foci 1 | AD |
DES | 125660 | Cardiomyopathy, dilated, 1I;Myopathy, myofibrillar, 1;Scapuloperoneal syndrome, neurogenic, Kaeser type | AD, AD, AR |
DGUOK | 601465 | Portal hypertension, noncirrhotic;Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 4;MT DNA depletion syndrome 3 (hepatocerebral type) | AR |
DHCR24 | 606418 | Desmosterolosis | AR |
DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
DHDDS | 608172 | Developmental delay and seizures with or without movement abnormalities;Retinitis pigmentosa 59;?Congenital disorder of glycosylation, type 1bb | AD, AR |
DHFR | 126060 | Megaloblastic anemia due to dihydrofolate reductase deficiency | AR |
DHH | 605423 | 46XY gonadal dysgenesis with minifascicular neuropathy;46XY sex reversal 7 | AR |
DHODH | 126064 | Miller syndrome | AR |
DHPS | 600944 | Neurodevelopmental disorder with seizures and speech and walking impairment | AR |
DHTKD1 | 614984 | 2-aminoadipic 2-oxoadipic aciduria;?Charcot-Marie-Tooth disease, axonal, type 2Q | AR, AD |
DHX30 | 616423 | Neurodevelopmental disorder with severe motor impairment and absent language | AD |
DIABLO | 605219 | Deafness, AD 64 | AD |
DIAPH1 | 602121 | Seizures, cortical blindness, microcephaly syndrome;Deafness, AD 1, with or without thrombocytopenia | AR, AD |
DIAPH3 | 614567 | Auditory neuropathy, AD, 1 | AD |
DIP2B | 611379 | Mental retardation, FRA12A type | AD |
DKC1 | 300126 | Dyskeratosis congenita, XL | XLR |
DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
DLD | 238331 | Dihydrolipoamide dehydrogenase deficiency | AR |
DLG3 | 300189 | Mental retardation, X-linked 90 | XLR |
DLG4 | 602887 | Intellectual developmental disorder 62 | AD |
DLGAP2 | 605438 | ||
DLL3 | 602768 | Spondylocostal dysostosis 1, AR | AR |
DLX3 | 600525 | Amelogenesis imperfecta, type IV;Trichodontoosseous syndrome | AD |
DMD | 300377 | Cardiomyopathy, dilated, 3B;Duchenne muscular dystrophy;Becker muscular dystrophy | XL, XLR |
DMGDH | 605849 | Dimethylglycine dehydrogenase deficiency | AR |
DMPK | 605377 | Myotonic dystrophy 1 | AD |
DMXL2 | 612186 | ?Polyendocrine-polyneuropathy syndrome;Developmental and epileptic encephalopathy 81;?Deafness, AD 71 | AR, AD |
DNA2 | 601810 | ?Seckel syndrome 8;Progressive external ophthalmoplegia with MT DNA deletions, AD 6 | AR, AD |
DNAJB2 | 604139 | Spinal muscular atrophy, distal, autosomal recessive, 5 | AR |
DNAJB6 | 611332 | Muscular dystrophy, limb-girdle, AD 1 | AD |
DNAJC12 | 606060 | Hyperphenylalaninemia, mild, non-BH4-deficient | AR |
DNAJC13 | 614334 | ||
DNAJC19 | 608977 | 3-methylglutaconic aciduria, type V | AR |
DNAJC5 | 611203 | Ceroid lipofuscinosis, neuronal, 4, Parry type | AD |
DNAJC6 | 608375 | Parkinson disease 19b, early-onset;Parkinson disease 19a, juvenile-onset | AR |
DNM1 | 602377 | Developmental and epileptic encephalopathy 31 | AD |
DNM1L | 603850 | Optic atrophy 5;Encephalopathy, lethal, due to defective MT peroxisomal fission 1 | AD, AD, AR |
DNM2 | 602378 | Lethal congenital contracture syndrome 5;Charcot-Marie-Tooth disease, axonal type 2M;Charcot-Marie-Tooth disease, dominant intermediate B;Centronuclear myopathy 1 | AR, AD |
DNMT1 | 126375 | Neuropathy, hereditary sensory, type IE;Cerebellar ataxia, deafness, and narcolepsy, AD | AD |
DNMT3A | 602769 | Tatton-Brown-Rahman syndrome;Heyn-Sproul-Jackson syndrome;Acute myeloid leukemia, somatic | AD |
DOCK3 | 603123 | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | AR |
DOCK6 | 614194 | Adams-Oliver syndrome 2 | AR |
DOCK7 | 615730 | Developmental and epileptic encephalopathy 23 | AR |
DOCK8 | 611432 | Hyper-IgE recurrent infection syndrome, AR | AR |
DOK7 | 610285 | Fetal akinesia deformation sequence 3;Myasthenic syndrome, congenital, 10 | AR |
DOLK | 610746 | Congenital disorder of glycosylation, type Im | AR |
DPAGT1 | 191350 | Myasthenic syndrome, congenital, 13, with tubular aggregates;Congenital disorder of glycosylation, type Ij | AR |
DPF2 | 601671 | Coffin-Siris syndrome 7 | AD |
DPM1 | 603503 | Congenital disorder of glycosylation, type Ie | AR |
DPM2 | 603564 | Congenital disorder of glycosylation, type Iu | AR |
DPM3 | 605951 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15;?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 | AR |
DPP6 | 126141 | Ventricular fibrillation, paroxysmal familial, 2;Mental retardation, AD 33 | AD |
DPYD | 612779 | 5-fluorouracil toxicity;Dihydropyrimidine dehydrogenase deficiency | AR |
DPYS | 613326 | Dihydropyrimidinuria | AR |
DRD3 | 126451 | Schizophrenia, susceptibility to;Essential tremor, hereditary, 1 | AD |
DST | 113810 | ?Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 | AR |
DSTYK | 612666 | Spastic paraplegia 23;Congenital anomalies of kidney and urinary tract 1 | AR, AD |
DTNBP1 | 607145 | Hermansky-Pudlak syndrome 7 | AR |
DVL3 | 601368 | Robinow syndrome, AD 3 | AD |
DYM | 607461 | Dyggve-Melchior-Clausen disease;Smith-McCort dysplasia | AR |
DYNC1H1 | 600112 | Spinal muscular atrophy, lower extremity-predominant 1, AD;Charcot-Marie-Tooth disease, axonal, type 20;Mental retardation, AD 13 | AD |
DYNC2H1 | 603297 | Short-rib thoracic dysplasia 3 with or without polydactyly | AR, DR |
DYRK1A | 600855 | Mental retardation, AD 7 | AD |
DYSF | 603009 | Muscular dystrophy, limb-girdle, autosomal recessive 2;Myopathy, distal, with anterior tibial onset;Miyoshi muscular dystrophy 1 | AR |
EARS2 | 612799 | Combined oxidative phosphorylation deficiency 12 | AR |
EBF3 | 607407 | Hypotonia, ataxia, and delayed development syndrome | AD |
EBP | 300205 | MEND syndrome;Chondrodysplasia punctata, XLD | XLR, XLD |
ECEL1 | 605896 | Arthrogryposis, distal, type 5D | AR |
ECHS1 | 602292 | MT short-chain enoyl-CoA hydratase 1 deficiency | AR |
EDC3 | 609842 | ?Mental retardation, autosomal recessive 50 | AR |
EDN3 | 131242 | Waardenburg syndrome, type 4B;Hirschsprung disease, susceptibility to, 4;Central hypoventilation syndrome, congenital | AD, AR, AD |
EDNRB | 131244 | Waardenburg syndrome, type 4A;Hirschsprung disease, susceptibility to, 2;ABCD syndrome | AD, AR, AD, AR |
EEF1A2 | 602959 | Mental retardation, AD 38;Developmental and epileptic encephalopathy 33 | AD |
EFHC1 | 608815 | Epilepsy, juvenile absence, susceptibility to, 1;Myoclonic epilepsy, juvenile, susceptibility to, 1 | AD |
EFTUD2 | 603892 | Mandibulofacial dysostosis, Guion-Almeida type | AD |
EGF | 131530 | Hypomagnesemia 4, renal | AR |
EGR2 | 129010 | Dejerine-Sottas disease;Hypomyelinating neuropathy, congenital, 1;Charcot-Marie-Tooth disease, type 1D | AD, AR, AD |
EHMT1 | 607001 | Kleefstra syndrome 1 | AD |
EIF2B1 | 606686 | Leukoencephalopathy with vanishing white matter | AR |
EIF2B2 | 606454 | Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter | AR |
EIF2B3 | 606273 | Leukoencephalopathy with vanishing white matter | AR |
EIF2B4 | 606687 | Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter | AR |
EIF2B5 | 603945 | Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter | AR |
EIF2S3 | 300161 | MEHMO syndrome | XLR |
EIF3F | 603914 | Mental retardation, autosomal recessive 67 | AR |
EIF4G1 | 600495 | Parkinson disease 18 | AD |
ELAC2 | 605367 | Prostate cancer, hereditary, 2, susceptibility to;Combined oxidative phosphorylation deficiency 17 | AR |
ELOVL4 | 605512 | Ichthyosis, spastic quadriplegia, and mental retardation;Stargardt disease 3;Spinocerebellar ataxia 34 | AR, AD |
ELOVL5 | 611805 | Spinocerebellar ataxia 38 | AD |
ELP1 | 603722 | Dysautonomia, familial;Medulloblastoma | AR, AD, AR, SM |
ELP2 | 616054 | Mental retardation, autosomal recessive 58 | AR |
EMC10 | 614545 | Neurodevelopmental disorder with dysmorphic facies and variable seizures | AR |
EMD | 300384 | Emery-Dreifuss muscular dystrophy 1, XL | XLR |
EML1 | 602033 | Band heterotopia | AR |
EMX2 | 600035 | Schizencephaly | |
ENO3 | 131370 | ?Glycogen storage disease XIII | AR |
ENTPD1 | 601752 | Spastic paraplegia 64, AR | AR |
EP300 | 602700 | Rubinstein-Taybi syndrome 2;Colorectal cancer, somatic;Menke-Hennekam syndrome 2 | AD |
EPB41L1 | 602879 | ?Mental retardation, AD 11 | AD |
EPG5 | 615068 | Vici syndrome | AR |
EPHX2 | 132811 | Hypercholesterolemia, familial, due to LDLR defect, modifier of | AD, AR |
EPM2A | 607566 | Epilepsy, progressive myoclonic 2A (Lafora) | AR |
EPRS1 | 138295 | Leukodystrophy, hypomyelinating, 15 | AR |
ERBB4 | 600543 | Amyotrophic lateral sclerosis 19 | AD |
ERCC1 | 126380 | Cerebrooculofacioskeletal syndrome 4 | AR |
ERCC2 | 126340 | ?Cerebrooculofacioskeletal syndrome 2;Xeroderma pigmentosum, group D;Trichothiodystrophy 1, photosensitive | AR |
ERCC5 | 133530 | Xeroderma pigmentosum, group G;Cerebrooculofacioskeletal syndrome 3;Xeroderma pigmentosum, group G/Cockayne syndrome | AR |
ERCC6 | 609413 | Lung cancer, susceptibility to;UV-sensitive syndrome 1;Premature ovarian failure 11;Macular degeneration, age-related, susceptibility to, 5;Cockayne syndrome, type B;De Sanctis-Cacchione syndrome;Cerebrooculofacioskeletal syndrome 1 | AD, SM, AR, AD |
ERCC8 | 609412 | Cockayne syndrome, type A;UV-sensitive syndrome 2 | AR |
ERLIN1 | 611604 | Spastic paraplegia 62 | AR |
ERLIN2 | 611605 | Spastic paraplegia 18, AR | AR |
ESCO2 | 609353 | Roberts syndrome;Juberg-Hayward syndrome;SC phocomelia syndrome | AR |
ETFA | 608053 | Glutaric acidemia IIA | AR |
ETFB | 130410 | Glutaric acidemia IIB | AR |
ETFDH | 231675 | Glutaric acidemia IIC | AR |
ETHE1 | 608451 | Ethylmalonic encephalopathy | AR |
EWSR1 | 133450 | Ewing sarcoma;Neuroepithelioma | |
EXOC6B | 607880 | Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | AR |
EXOSC3 | 606489 | Pontocerebellar hypoplasia, type 1B | AR |
EXOSC8 | 606019 | Pontocerebellar hypoplasia, type 1C | AR |
EXOSC9 | 606180 | Pontocerebellar hypoplasia, type 1D | AR |
EXT1 | 608177 | Chondrosarcoma;Exostoses, multiple, type 1 | SM, AD |
EZH2 | 601573 | Weaver syndrome | AD |
F2 | 176930 | Dysprothrombinemia;Stroke, ischemic, susceptibility to;Pregnancy loss, recurrent, susceptibility to, 2;Hypoprothrombinemia;Thrombophilia due to thrombin defect | AR, MF, AD |
F5 | 612309 | Pregnancy loss, recurrent, susceptibility to, 1;Factor V deficiency;Stroke, ischemic, susceptibility to;Budd-Chiari syndrome;Thrombophilia, susceptibility to, due to factor V Leiden;Thrombophilia due to activated protein C resistance | AD, AR, MF |
FA2H | 611026 | Spastic paraplegia 35, AR | AR |
FADD | 602457 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | AR |
FAH | 613871 | Tyrosinemia, type I | AR |
FAM126A | 610531 | Leukodystrophy, hypomyelinating, 5 | AR |
FAN1 | 613534 | Interstitial nephritis, karyomegalic | AR |
FANCB | 300515 | Fanconi anemia, complementation group B | XLR |
FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14;Spastic paraplegia 77, AR | AR |
FARSB | 609690 | Rajab interstitial lung disease with brain calcifications 1 | AR |
FASTKD2 | 612322 | Combined oxidative phosphorylation deficiency 44 | AR |
FAT2 | 604269 | Spinocerebellar ataxia 45 | AD |
FBLN5 | 604580 | Cutis laxa, autosomal recessive, type IA;Neuropathy, hereditary, with or without age-related macular degeneration;Macular degeneration, age-related, 3;?Cutis laxa, AD 2 | AR, AD |
FBN1 | 134797 | Marfan lipodystrophy syndrome;Geleophysic dysplasia 2;Acromicric dysplasia;Marfan syndrome;Weill-Marchesani syndrome 2, dominant;Stiff skin syndrome;MASS syndrome;Ectopia lentis, familial | AD |
FBN2 | 612570 | Contractural arachnodactyly, congenital;Macular degeneration, early-onset | AD |
FBXL4 | 605654 | MT DNA depletion syndrome 13 (encephalomyopathic type) | AR |
FBXO11 | 607871 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | AD |
FBXO38 | 608533 | Neuronopathy, distal hereditary motor, type IID | AD |
FBXO7 | 605648 | Parkinson disease 15, AR | AR |
FDX2 | 614585 | MT myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | AR |
FDXR | 103270 | Auditory neuropathy and optic atrophy | AR |
FECH | 612386 | Protoporphyria, erythropoietic, 1 | AR |
FEZF1 | 613301 | Hypogonadotropic hypogonadism 22, with or without anosmia | AR |
FGA | 134820 | Hypodysfibrinogenemia, congenital;Afibrinogenemia, congenital;Amyloidosis, familial visceral;Dysfibrinogenemia, congenital | AR, AD |
FGD1 | 300546 | Aarskog-Scott syndrome;Mental retardation, X-linked syndromic 16 | XLR |
FGD4 | 611104 | Charcot-Marie-Tooth disease, type 4H | AR |
FGF10 | 602115 | Aplasia of lacrimal and salivary glands;LADD syndrome | AD |
FGF12 | 601513 | Developmental and epileptic encephalopathy 47 | AD |
FGF14 | 601515 | Spinocerebellar ataxia 27 | AD |
FGFR2 | 176943 | Crouzon syndrome;Saethre-Chotzen syndrome;Craniofacial-skeletal-dermatologic dysplasia;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;Gastric cancer, somatic;LADD syndrome;Beare-Stevenson cutis gyrata syndrome;Scaphocephaly, maxillary retrusion, and mental retardation;Apert syndrome;Bent bone dysplasia syndrome;Pfeiffer syndrome;Jackson-Weiss syndrome | AD |
FGFR3 | 134934 | Achondroplasia;CATSHL syndrome;Thanatophoric dysplasia, type I;Bladder cancer, somatic;Hypochondroplasia;SADDAN;Colorectal cancer, somatic;Crouzon syndrome with acanthosis nigricans;Cervical cancer, somatic;Nevus, epidermal, somatic;Thanatophoric dysplasia, type II;Spermatocytic seminoma, somatic;Muenke syndrome;LADD syndrome | AD, AD, AR |
FH | 136850 | Fumarase deficiency;Leiomyomatosis and renal cell cancer | AR, AD |
FHL1 | 300163 | Reducing body myopathy, X-linked 1b, with late childhood or adult onset;Scapuloperoneal myopathy, XLD;?Uruguay faciocardiomusculoskeletal syndrome;Myopathy, X-linked, with postural muscle atrophy;Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset;Emery-Dreifuss muscular dystrophy 6, XL | XL, XLD, XLR |
FIG4 | 609390 | Amyotrophic lateral sclerosis 11;Yunis-Varon syndrome;Charcot-Marie-Tooth disease, type 4J;?Polymicrogyria, bilateral temporooccipital | AD, AR |
FKBP10 | 607063 | Osteogenesis imperfecta, type XI;Bruck syndrome 1 | AR |
FKBP14 | 614505 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | AR |
FKRP | 606596 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | AR |
FKTN | 607440 | Cardiomyopathy, dilated, 1X;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | AR |
FLAD1 | 610595 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | AR |
FLNA | 300017 | Frontometaphyseal dysplasia 1;Heterotopia, periventricular, 1;Terminal osseous dysplasia;Congenital short bowel syndrome;Otopalatodigital syndrome, type II;Melnick-Needles syndrome;Cardiac valvular dysplasia, X-linked;Intestinal pseudoobstruction, neuronal;?FG syndrome 2;Otopalatodigital syndrome, type I | XLR, XLD, XL |
FLNC | 102565 | Cardiomyopathy, familial restrictive 5;Myopathy, myofibrillar, 5;Myopathy, distal, 4;Cardiomyopathy, familial hypertrophic, 26 | AD |
FLVCR1 | 609144 | Ataxia, posterior column, with retinitis pigmentosa | AR |
FLVCR2 | 610865 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | AR |
FMN2 | 606373 | Mental retardation, autosomal recessive 47 | AR |
FOLR1 | 136430 | Neurodegeneration due to cerebral folate transport deficiency | AR |
FOXC1 | 601090 | Anterior segment dysgenesis 3, multiple subtypes;Axenfeld-Rieger syndrome, type 3 | AD |
FOXG1 | 164874 | Rett syndrome, congenital variant | AD |
FOXL2 | 605597 | Blepharophimosis, epicanthus inversus, and ptosis, type 1;Blepharophimosis, epicanthus inversus, and ptosis, type 2;Premature ovarian failure 3 | AD, AR, AD |
FOXP1 | 605515 | Mental retardation with language impairment and with or without autistic features | AD |
FOXP2 | 605317 | Speech-language disorder-1 | AD |
FOXRED1 | 613622 | MT complex I deficiency, nuclear type 19 | AR |
FRMD7 | 300628 | Nystagmus, infantile periodic alternating, X-linked;Nystagmus 1, congenital, XL | XL |
FRMPD4 | 300838 | Mental retardation, X-linked 104 | XL |
FRRS1L | 604574 | Developmental and epileptic encephalopathy 37 | AR |
FTL | 134790 | Neurodegeneration with brain iron accumulation 3;Hyperferritinemia-cataract syndrome;L-ferritin deficiency, dominant and recessive | AD, AD, AR |
FTO | 610966 | Growth retardation, developmental delay, facial dysmorphism;Obesity, susceptibility to, BMIQ14 | AR |
FTSJ1 | 300499 | Mental retardation, X-linked 9/44 | XLR |
FUCA1 | 612280 | Fucosidosis | AR |
FUS | 137070 | Essential tremor, hereditary, 4;Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia | AD |
FUT8 | 602589 | Congenital disorder of glycosylation with defective fucosylation 1 | AR |
FXN | 606829 | Friedreich ataxia;Friedreich ataxia with retained reflexes | AR |
FXR1 | 600819 | ?Myopathy, congenital, with respiratory insufficiency and bone fractures;?Myopathy, congenital proximal, with minicore lesions | AR |
FXYD2 | 601814 | Hypomagnesemia 2, renal | AD |
G6PD | 305900 | Resistance to malaria due to G6PD deficiency;Hemolytic anemia, G6PD deficient (favism) | XLD |
GAA | 606800 | Glycogen storage disease II | AR |
GABBR2 | 607340 | Nicotine dependence, susceptibility to;Neurodevelopmental disorder with poor language and loss of hand skills;Developmental and epileptic encephalopathy 59;Nicotine dependence, protection against | AD |
GABRA1 | 137160 | Developmental and epileptic encephalopathy 19;Epilepsy, childhood absence, susceptibility to, 4;Epilepsy, juvenile myoclonic, susceptibility to, 5 | AD |
GABRA2 | 137140 | Alcohol dependence, susceptibility to;Developmental and epileptic encephalopathy 78 | MF, AD |
GABRA5 | 137142 | Developmental and epileptic encephalopathy 79 | AD |
GABRB1 | 137190 | Developmental and epileptic encephalopathy 45 | AD |
GABRB2 | 600232 | Epileptic encephalopathy, infantile or early childhood, 2 | AD |
GABRB3 | 137192 | Epilepsy, childhood absence, susceptibility to, 5;Developmental and epileptic encephalopathy 43 | AD |
GABRD | 137163 | Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to;Epilepsy, juvenile myoclonic, susceptibility to;Epilepsy, idiopathic generalized, 10 | AD |
GABRE | 300093 | ||
GABRG2 | 137164 | Developmental and epileptic encephalopathy 74;Epilepsy, generalized, with febrile seizures plus, type 3;Febrile seizures, familial, 8 | AD |
GAD1 | 605363 | ?Cerebral palsy, spastic quadriplegic, 1;Developmental and epileptic encephalopathy 89 | AR |
GALC | 606890 | Krabbe disease | AR |
GALNS | 612222 | Mucopolysaccharidosis IVA | AR |
GALT | 606999 | Galactosemia | AR |
GAMT | 601240 | Cerebral creatine deficiency syndrome 2 | AR |
GAN | 605379 | Giant axonal neuropathy-1 | AR |
GARS1 | 600287 | Spinal muscular atrophy, infantile, James type;Charcot-Marie-Tooth disease, type 2D;Neuronopathy, distal hereditary motor, type VA | AD |
GATAD2B | 614998 | GAND syndrome | AD |
GATM | 602360 | Cerebral creatine deficiency syndrome 3;Fanconi renotubular syndrome 1 | AR, AD |
GBA | 606463 | Lewy body dementia, susceptibility to;Gaucher disease, type IIIC;Parkinson disease, late-onset, susceptibility to;Gaucher disease, type II;Gaucher disease, type III;Gaucher disease, perinatal lethal;Gaucher disease, type I | AD, AR, AD, MF |
GBA2 | 609471 | Spastic paraplegia 46, AR | AR |
GBE1 | 607839 | Glycogen storage disease IV;Polyglucosan body disease, adult form | AR |
GCDH | 608801 | Glutaricaciduria, type I | AR |
GCH1 | 600225 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia;Hyperphenylalaninemia, BH4-deficient, B | AD, AR, AR |
GCK | 138079 | Diabetes mellitus, permanent neonatal 1;Diabetes mellitus, noninsulin-dependent, late onset;Hyperinsulinemic hypoglycemia, familial, 3;MODY, type II | AR, AD |
GCSH | 238330 | ?Glycine encephalopathy | AR |
GDAP1 | 606598 | Charcot-Marie-Tooth disease, axonal, type 2K;Charcot-Marie-Tooth disease, type 4A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis;Charcot-Marie-Tooth disease, recessive intermediate, A | AD, AR, AR |
GDI1 | 300104 | Mental retardation, X-linked 41 | XLD |
GDNF | 600837 | Pheochromocytoma, modifier of;Central hypoventilation syndrome;Hirschsprung disease, susceptibility to, 3 | AD |
GFAP | 137780 | Alexander disease | AD |
GFER | 600924 | Myopathy, MT progressive, with congenital cataract and developmental delay | AR |
GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
GFM2 | 606544 | Combined oxidative phosphorylation deficiency 39 | AR |
GFPT1 | 138292 | Myasthenia, congenital, 12, with tubular aggregates | AR |
GIGYF2 | 612003 | Parkinson disease 11 | |
GJA1 | 121014 | Oculodentodigital dysplasia, AR;Atrioventricular septal defect 3;Syndactyly, type III;Craniometaphyseal dysplasia, AR;Palmoplantar keratoderma with congenital alopecia;Oculodentodigital dysplasia;Hypoplastic left heart syndrome 1;Erythrokeratodermia variabilis et progressiva 3 | AR, AD |
GJB1 | 304040 | Charcot-Marie-Tooth neuropathy, XLD, 1 | XLD |
GJB3 | 603324 | Deafness, AD 2B;Erythrokeratodermia variabilis et progressiva 1;Deafness, digenic, GJB2/GJB3 | AD, AD, AR, AR, DD |
GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2;Spastic paraplegia 44, AR;Lymphatic malformation 3 | AR, AD |
GK | 300474 | Glycerol kinase deficiency | XLR |
GLA | 300644 | Fabry disease;Fabry disease, cardiac variant | XL |
GLB1 | 611458 | GM1-gangliosidosis, type II;GM1-gangliosidosis, type I;Mucopolysaccharidosis type IVB (Morquio);GM1-gangliosidosis, type III | AR |
GLDC | 238300 | Glycine encephalopathy | AR |
GLDN | 608603 | Lethal congenital contracture syndrome 11 | AR |
GLE1 | 603371 | Congenital arthrogryposis with anterior horn cell disease;Lethal congenital contracture syndrome 1 | AR |
GLI2 | 165230 | Holoprosencephaly 9;Culler-Jones syndrome | AD |
GLI3 | 165240 | Pallister-Hall syndrome;Polydactyly, preaxial, type IV;Polydactyly, postaxial, types A1 and B;Greig cephalopolysyndactyly syndrome | AD |
GLO1 | 138750 | ||
GLRA1 | 138491 | Hyperekplexia 1 | AD, AR |
GLRB | 138492 | Hyperekplexia 2 | AR |
GLRX5 | 609588 | Spasticity, childhood-onset, with hyperglycinemia;Anemia, sideroblastic, 3, pyridoxine-refractory | AR |
GLUD1 | 138130 | Hyperinsulinism-hyperammonemia syndrome | AD |
GLUL | 138290 | Glutamine deficiency, congenital | AR |
GLYCTK | 610516 | D-glyceric aciduria | AR |
GM2A | 613109 | GM2-gangliosidosis, AB variant | AR |
GMPPA | 615495 | Alacrima, achalasia, and mental retardation syndrome | AR |
GMPPB | 615320 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | AR |
GNAL | 139312 | Dystonia 25 | AD |
GNAO1 | 139311 | Developmental and epileptic encephalopathy 17;Neurodevelopmental disorder with involuntary movements | AD |
GNAQ | 600998 | Capillary malformations, congenital, 1, somatic, mosaic;Sturge-Weber syndrome, somatic, mosaic | |
GNAS | 139320 | Pseudohypoparathyroidism Ic;Osseous heteroplasia, progressive;Pseudopseudohypoparathyroidism;Pseudohypoparathyroidism Ia;Pseudohypoparathyroidism Ib;Pituitary adenoma 3, multiple types, somatic;ACTH-independent macronodular adrenal hyperplasia;McCune-Albright syndrome, somatic, mosaic | AD, SM |
GNB1 | 139380 | Leukemia, acute lymphoblastic, somatic;Myelodysplastic syndrome, somatic;Mental retardation, AD 42 | AD |
GNB4 | 610863 | Charcot-Marie-Tooth disease, dominant intermediate F | AD |
GNB5 | 604447 | Intellectual developmental disorder with cardiac arrhythmia;Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia | AR |
GNE | 603824 | Nonaka myopathy;Sialuria | AR, AD |
GNPAT | 602744 | Rhizomelic chondrodysplasia punctata, type 2 | AR |
GNPTAB | 607840 | Mucolipidosis III alpha/beta;Mucolipidosis II alpha/beta | AR |
GNPTG | 607838 | Mucolipidosis III gamma | AR |
GNS | 607664 | Mucopolysaccharidosis type IIID | AR |
GOSR2 | 604027 | Epilepsy, progressive myoclonic 6 | AR |
GOT2 | 138150 | Epileptic encephalopathy, early infantile, 82 | AR |
GPAA1 | 603048 | Glycosylphosphatidylinositol biosynthesis defect 15 | AR |
GPC3 | 300037 | Simpson-Golabi-Behmel syndrome, type 1;Wilms tumor, somatic | XLR |
GPC4 | 300168 | Keipert syndrome | XLR |
GPC6 | 604404 | Omodysplasia 1 | AR |
GPHN | 603930 | Molybdenum cofactor deficiency C | AR |
GPI | 172400 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | AR |
GPT2 | 138210 | Neurodevelopmental disorder with microcephaly and spastic paraplegia | AR |
GPX1 | 138320 | Hemolytic anemia due to glutathione peroxidase deficiency | AR |
GRHPR | 604296 | Hyperoxaluria, primary, type II | AR |
GRIA1 | 138248 | ||
GRIA2 | 138247 | Neurodevelopmental disorder with language impairment and behavioral abnormalities | AD |
GRIA3 | 305915 | Intellectual developmental disorder, X-linked, syndromic, Wu type | XLR |
GRIA4 | 138246 | Neurodevelopmental disorder with or without seizures and gait abnormalities | AD |
GRID2 | 602368 | Spinocerebellar ataxia, autosomal recessive 18 | AR |
GRIK2 | 138244 | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures;Mental retardation, autosomal recessive, 6 | AD, AR |
GRIN1 | 138249 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, AR;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, AD | AR, AD |
GRIN2A | 138253 | Epilepsy, focal, with speech disorder and with or without mental retardation | AD |
GRIN2B | 138252 | Mental retardation, AD 6;Developmental and epileptic encephalopathy 27 | AD |
GRIN2D | 602717 | Developmental and epileptic encephalopathy 46 | AD |
GRIP1 | 604597 | Fraser syndrome 3 | AR |
GRM1 | 604473 | Spinocerebellar ataxia 44;Spinocerebellar ataxia, autosomal recessive 13 | AD, AR |
GRN | 138945 | Ceroid lipofuscinosis, neuronal, 11;Frontotemporal lobar degeneration with ubiquitin-positive inclusions;Aphasia, primary progressive | AR, AD |
GSN | 137350 | Amyloidosis, Finnish type | AD |
GSR | 138300 | Hemolytic anemia due to glutathione reductase deficiency | AR |
GSS | 601002 | Glutathione synthetase deficiency;Hemolytic anemia due to glutathione synthetase deficiency | AR |
GTPBP2 | 607434 | Jaberi-Elahi syndrome | AR |
GTPBP3 | 608536 | Combined oxidative phosphorylation deficiency 23 | AR |
GUF1 | 617064 | ?Developmental and epileptic encephalopathy 40 | AR |
GUSB | 611499 | Mucopolysaccharidosis VII | AR |
GYG1 | 603942 | Polyglucosan body myopathy 2;?Glycogen storage disease XV | AR |
GYS1 | 138570 | Glycogen storage disease 0, muscle | AR |
HACE1 | 610876 | Spastic paraplegia and psychomotor retardation with or without seizures | AR |
HADH | 601609 | 3-hydroxyacyl-CoA dehydrogenase deficiency;Hyperinsulinemic hypoglycemia, familial, 4 | AR |
HADHA | 600890 | HELLP syndrome, maternal, of pregnancy;LCHAD deficiency;Fatty liver, acute, of pregnancy;MT trifunctional protein deficiency | AR |
HADHB | 143450 | Trifunctional protein deficiency | AR |
HAMP | 606464 | Hemochromatosis, type 2B | AR |
HARS2 | 600783 | Perrault syndrome 2 | AR |
HAX1 | 605998 | Neutropenia, severe congenital 3, AR | AR |
HBB | 141900 | Erythrocytosis 6;Methemoglobinemia, beta type;Delta-beta thalassemia;Thalassemia-beta, dominant inclusion-body;Sickle cell anemia;Hereditary persistence of fetal hemoglobin;Malaria, resistance to;Thalassemia, beta;Heinz body anemia | AD, AR |
HCCS | 300056 | Linear skin defects with multiple congenital anomalies 1 | XLD |
HCFC1 | 300019 | Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) | XLR |
HCN1 | 602780 | Generalized epilepsy with febrile seizures plus, type 10;Developmental and epileptic encephalopathy 24 | AD |
HDAC4 | 605314 | ||
HDAC8 | 300269 | Cornelia de Lange syndrome 5 | XLD |
HECW2 | 617245 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | AD |
HEPACAM | 611642 | Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation;Megalencephalic leukoencephalopathy with subcortical cysts 2A | AD, AR |
HERC2 | 605837 | [Skin/hair/eye pigmentation 1, blond/brown hair];[Skin/hair/eye pigmentation 1, blue/nonblue eyes];Mental retardation, autosomal recessive 38 | AR |
HESX1 | 601802 | Septooptic dysplasia;Pituitary hormone deficiency, combined, 5;Growth hormone deficiency with pituitary anomalies | AD, AR |
HEXA | 606869 | Tay-Sachs disease;[Hex A pseudodeficiency];GM2-gangliosidosis, several forms | AR |
HEXB | 606873 | Sandhoff disease, infantile, juvenile, and adult forms | AR |
HGSNAT | 610453 | Mucopolysaccharidosis type IIIC (Sanfilippo C);Retinitis pigmentosa 73 | AR |
HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
HIKESHI | 614908 | Leukodystrophy, hypomyelinating, 13 | AR |
HINT1 | 601314 | Neuromyotonia and axonal neuropathy, AR | AR |
HIVEP2 | 143054 | Mental retardation, AD 43 | AD |
HK1 | 142600 | Retinitis pigmentosa 79;Hemolytic anemia due to hexokinase deficiency;Neurodevelopmental disorder with visual defects and brain anomalies;Neuropathy, hereditary motor and sensory, Russe type | AD, AR |
HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
HMBS | 609806 | Porphyria, acute intermittent;Porphyria, acute intermittent, nonerythroid variant | AD |
HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
HMGCS2 | 600234 | HMG-CoA synthase-2 deficiency | AR |
HNMT | 605238 | Asthma, susceptibility to;Mental retardation, autosomal recessive 51 | AD, AR |
HNRNPA1 | 164017 | Amyotrophic lateral sclerosis 20;?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 | AD |
HNRNPA2B1 | 600124 | ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | AD |
HNRNPDL | 607137 | Muscular dystrophy, limb-girdle, AD 3 | AD |
HNRNPH2 | 300610 | Mental retardation, X-linked, syndromic, Bain type | XLD |
HNRNPR | 607201 | ||
HNRNPU | 602869 | Developmental and epileptic encephalopathy 54 | AD |
HOGA1 | 613597 | Hyperoxaluria, primary, type III | AR |
HOXA1 | 142955 | Bosley-Salih-Alorainy syndrome;Athabaskan brainstem dysgenesis syndrome | AR |
HOXD10 | 142984 | Vertical talus, congenital;Charcot-Marie-Tooth disease, foot deformity of | AD |
HPCA | 142622 | Dystonia 2, torsion, AR | AR |
HPD | 609695 | Hawkinsinuria;Tyrosinemia, type III | AD, AR |
HPRT1 | 308000 | Hyperuricemia, HRPT-related;Lesch-Nyhan syndrome | XLR |
HPS1 | 604982 | Hermansky-Pudlak syndrome 1 | AR |
HPS4 | 606682 | Hermansky-Pudlak syndrome 4 | AR |
HPS5 | 607521 | Hermansky-Pudlak syndrome 5 | AR |
HPS6 | 607522 | Hermansky-Pudlak syndrome 6 | AR |
HRAS | 190020 | Thyroid carcinoma, follicular, somatic;Spitz nevus or nevus spilus, somatic;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Bladder cancer, somatic;Costello syndrome;Nevus sebaceous or woolly hair nevus, somatic;Congenital myopathy with excess of muscle spindles | AD |
HSD11B1 | 600713 | Cortisone reductase deficiency 2 | AD |
HSD17B10 | 300256 | HSD10 MT disease | XLD |
HSD17B4 | 601860 | Perrault syndrome 1;D-bifunctional protein deficiency | AR |
HSD3B2 | 613890 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR |
HSPA9 | 600548 | Even-plus syndrome;Anemia, sideroblastic, 4 | AR, AD |
HSPB1 | 602195 | Neuronopathy, distal hereditary motor, type IIB;Charcot-Marie-Tooth disease, axonal, type 2F | AD |
HSPB3 | 604624 | ?Neuronopathy, distal hereditary motor, type IIC | AD |
HSPB8 | 608014 | Neuronopathy, distal hereditary motor, type IIA;Charcot-Marie-Tooth disease, axonal, type 2L | AD |
HSPD1 | 118190 | Leukodystrophy, hypomyelinating, 4;Spastic paraplegia 13, AD | AR, AD |
HSPG2 | 142461 | Schwartz-Jampel syndrome, type 1;Dyssegmental dysplasia, Silverman-Handmaker type | AR |
HTRA1 | 602194 | Macular degeneration, age-related, 7;CARASIL syndrome;Cerebral arteriopathy, AD, with subcortical infarcts and leukoencephalopathy, type 2;Macular degeneration, age-related, neovascular type | AR, AD |
HTRA2 | 606441 | Parkinson disease 13;3-methylglutaconic aciduria, type VIII | AR |
HUWE1 | 300697 | Mental retardation, X-linked syndromic, Turner type | XL |
HYAL1 | 607071 | ?Mucopolysaccharidosis type IX | AR |
HYDIN | 610812 | Ciliary dyskinesia, primary, 5 | AR |
IARS2 | 612801 | ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | AR |
IBA57 | 615316 | ?Spastic paraplegia 74, AR;Multiple MT dysfunctions syndrome 3 | AR |
IDH2 | 147650 | D-2-hydroxyglutaric aciduria 2 | |
IDH3B | 604526 | Retinitis pigmentosa 46 | AR |
IDS | 300823 | Mucopolysaccharidosis II | XLR |
IDUA | 252800 | Mucopolysaccharidosis Is;Mucopolysaccharidosis Ih/s;Mucopolysaccharidosis Ih | AR |
IER3IP1 | 609382 | Microcephaly, epilepsy, and diabetes syndrome | AR |
IFIH1 | 606951 | Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1 | AD |
IFT140 | 614620 | Retinitis pigmentosa 80;Short-rib thoracic dysplasia 9 with or without polydactyly | AR |
IFT172 | 607386 | Retinitis pigmentosa 71;Bardet-Biedl syndrome 20;Short-rib thoracic dysplasia 10 with or without polydactyly | AR |
IFT27 | 615870 | ?Bardet-Biedl syndrome 19 | AR |
IGBP1 | 300139 | Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia | XLR |
IGF1 | 147440 | Growth retardation with deafness and mental retardation due to IGF1 deficiency | AR |
IGF1R | 147370 | Insulin-like growth factor I, resistance to | AD, AR |
IGHMBP2 | 600502 | Neuronopathy, distal hereditary motor, type VI;Charcot-Marie-Tooth disease, axonal, type 2S | AR |
IL1RAPL1 | 300206 | Mental retardation, X-linked 21/34 | XLR |
IMPA1 | 602064 | Mental retardation, autosomal recessive 59 | AR |
INF2 | 610982 | Glomerulosclerosis, focal segmental, 5;Charcot-Marie-Tooth disease, dominant intermediate E | AD |
INPP5E | 613037 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis;Joubert syndrome 1 | AR |
INVS | 243305 | Nephronophthisis 2, infantile | AR |
IQSEC2 | 300522 | Mental retardation, X-linked 1/78 | XLD |
IRF2BPL | 611720 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | AD |
IRX5 | 606195 | Hamamy syndrome | AR |
ISCA1 | 611006 | Multiple MT dysfunctions syndrome 5 | AR |
ISCA2 | 615317 | Multiple MT dysfunctions syndrome 4 | AR |
ISCU | 611911 | Myopathy with lactic acidosis, hereditary | AR |
ITGA7 | 600536 | Muscular dystrophy, congenital, due to ITGA7 deficiency | AR |
ITGB3 | 173470 | Glanzmann thrombasthenia 2;Glanzmann thrombasthenia;Bleeding disorder, platelet-type, 16, AD;Myocardial infarction, susceptibility to;Bleeding disorder, platelet-type, 24, AD | AR, AD |
ITM2B | 603904 | Dementia, familial British;?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities;Dementia, familial Danish | AD |
ITPA | 147520 | Developmental and epileptic encephalopathy 35;[Inosine triphosphatase deficiency] | AR |
ITPR1 | 147265 | Spinocerebellar ataxia 15;Spinocerebellar ataxia 29, congenital nonprogressive;Gillespie syndrome | AD, AD, AR |
IVD | 607036 | Isovaleric acidemia | AR |
JAG1 | 601920 | Alagille syndrome 1;Charcot-Marie-Tooth disease, axonal, type 2HH;?Deafness, congenital heart defects, and posterior embryotoxon;Tetralogy of Fallot | AD |
JAM2 | 606870 | Basal ganglia calcification, idiopathic, 8, AR | AR |
JAM3 | 606871 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | AR |
KANK1 | 607704 | Cerebral palsy, spastic quadriplegic, 2 | |
KANSL1 | 612452 | Koolen-De Vries syndrome | AD |
KARS1 | 601421 | ?Charcot-Marie-Tooth disease, recessive intermediate, B;Deafness, congenital, and adult-onset progressive leukoencephalopathy;Leukoencephalopathy, progressive, infantile-onset, with or without deafness;Deafness, autosomal recessive 89 | AR |
KAT6A | 601408 | Arboleda-Tham syndrome | AD |
KAT6B | 605880 | SBBYSS syndrome;Genitopatellar syndrome | AD |
KAT8 | 609912 | Li-Ghorgani-Weisz-Hubshman syndrome | AD |
KATNB1 | 602703 | Lissencephaly 6, with microcephaly | AR |
KBTBD13 | 613727 | Nemaline myopathy 6, AD | AD |
KCNA1 | 176260 | Episodic ataxia/myokymia syndrome | AD |
KCNA2 | 176262 | Developmental and epileptic encephalopathy 32 | AD |
KCNB1 | 600397 | Developmental and epileptic encephalopathy 26 | AD |
KCNC1 | 176258 | Epilepsy, progressive myoclonic 7 | AD |
KCNC3 | 176264 | Spinocerebellar ataxia 13 | AD |
KCND3 | 605411 | Brugada syndrome 9;Spinocerebellar ataxia 19 | AD |
KCNE3 | 604433 | ?Brugada syndrome 6 | |
KCNH1 | 603305 | Zimmermann-Laband syndrome 1;Temple-Baraitser syndrome | AD |
KCNJ1 | 600359 | Bartter syndrome, type 2 | AR |
KCNJ10 | 602208 | Enlarged vestibular aqueduct, digenic;SESAME syndrome | AR |
KCNJ2 | 600681 | Short QT syndrome 3;Atrial fibrillation, familial, 9;Andersen syndrome | AD |
KCNK18 | 613655 | Migraine, with or without aura, susceptibility to, 13 | AD |
KCNK4 | 605720 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | AD |
KCNK9 | 605874 | Birk-Barel syndrome | |
KCNMA1 | 600150 | Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy;Epilepsy, idiopathic generalized, susceptibility to, 16;Liang-Wang syndrome;Cerebellar atrophy, developmental delay, and seizures | AD, AR |
KCNQ2 | 602235 | Seizures, benign neonatal, 1;Developmental and epileptic encephalopathy 7;Myokymia | AD |
KCNQ3 | 602232 | Seizures, benign neonatal, 2 | AD |
KCNQ5 | 607357 | Mental retardation, AD 46 | AD |
KCNT1 | 608167 | Developmental and epileptic encephalopathy 14;Epilepsy nocturnal frontal lobe, 5 | AD |
KCNT2 | 610044 | ?Developmental and epileptic encephalopathy 57 | AD |
KCTD17 | 616386 | Dystonia 26, myoclonic | AD |
KCTD3 | 613272 | ||
KCTD7 | 611725 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | AR |
KDM4B | 609765 | Intellectual developmental disorder, AD 65 | AD |
KDM5B | 605393 | Mental retardation, autosomal recessive 65 | AR |
KDM5C | 314690 | Mental retardation, X-linked, syndromic, Claes-Jensen type | XLR |
KDM6A | 300128 | Kabuki syndrome 2 | XLD |
KIAA1109 | 611565 | Alkuraya-Kucinskas syndrome | AR |
KIDINS220 | 615759 | Ventriculomegaly and arthrogryposis;Spastic paraplegia, intellectual disability, nystagmus, and obesity | AR, AD |
KIF11 | 148760 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | AD |
KIF14 | 611279 | ?Meckel syndrome 12;Microcephaly 20, primary, AR | AR |
KIF1A | 601255 | NESCAV syndrome;Spastic paraplegia 30, AR;Neuropathy, hereditary sensory, type IIC;Spastic paraplegia 30, AD | AD, AD, AR, AR |
KIF1B | 605995 | ?Charcot-Marie-Tooth disease, type 2A1;Pheochromocytoma;Neuroblastoma, susceptibility to, 1 | AD, AD, SM |
KIF1C | 603060 | Spastic ataxia 2, AR | AR |
KIF21A | 608283 | Fibrosis of extraocular muscles, congenital, 3B;Fibrosis of extraocular muscles, congenital, 1 | AD |
KIF2A | 602591 | Cortical dysplasia, complex, with other brain malformations 3 | AD |
KIF5A | 602821 | Amyotrophic lateral sclerosis, susceptibility to, 25;Myoclonus, intractable, neonatal;Spastic paraplegia 10, AD | AD |
KIF5C | 604593 | Cortical dysplasia, complex, with other brain malformations 2 | AD |
KIF7 | 611254 | Joubert syndrome 12;?Hydrolethalus syndrome 2;?Al-Gazali-Bakalinova syndrome;Acrocallosal syndrome | AR |
KIFBP | 609367 | Goldberg-Shprintzen megacolon syndrome | AR |
KIRREL3 | 607761 | ||
KLHL40 | 615340 | Nemaline myopathy 8, AR | AR |
KLHL41 | 607701 | Nemaline myopathy 9 | AR |
KLHL7 | 611119 | PERCHING syndrome;Retinitis pigmentosa 42 | AR, AD |
KMT2A | 159555 | Wiedemann-Steiner syndrome | AD |
KMT2B | 606834 | Dystonia 28, childhood-onset | AD |
KMT2C | 606833 | Kleefstra syndrome 2 | AD |
KMT2D | 602113 | Kabuki syndrome 1 | AD |
KMT2E | 608444 | O'Donnell-Luria-Rodan syndrome | AD |
KMT5B | 610881 | Mental retardation, AD 51 | AD |
KNL1 | 609173 | Microcephaly 4, primary, AR | AR |
KPTN | 615620 | Mental retardation, autosomal recessive 41 | AR |
KRAS | 190070 | Arteriovenous malformation of the brain, somatic;Gastric cancer, somatic;Oculoectodermal syndrome, somatic;RAS-associated autoimmune leukoproliferative disorder;Pancreatic carcinoma, somatic;Lung cancer, somatic;Cardiofaciocutaneous syndrome 2;Bladder cancer, somatic;Leukemia, acute myeloid, somatic;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Breast cancer, somatic;Noonan syndrome 3 | AD |
KRIT1 | 604214 | Cavernous malformations of CNS and retina;Cerebral cavernous malformations-1;Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations | AD |
KRT5 | 148040 | Epidermolysis bullosa simplex-MP;Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex, recessive 1;Epidermolysis bullosa simplex, Weber-Cockayne type;Epidermolysis bullosa simplex 2B, generalized intermediate;Epidermolysis bullosa simplex 2A, generalized severe;Epidermolysis bullosa simplex-MCR;Dowling-Degos disease 1;Epidermolysis bullosa simplex 2C, localized;Epidermolysis bullosa simplex, Dowling-Meara type;Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, AR | AD, AR |
KRT8 | 148060 | Cirrhosis, cryptogenic;Cirrhosis, noncryptogenic, susceptibility to | AR |
KY | 605739 | Myopathy, myofibrillar, 7 | AR |
L1CAM | 308840 | Hydrocephalus with congenital idiopathic intestinal pseudoobstruction;CRASH syndrome;Corpus callosum, partial agenesis of;Hydrocephalus with Hirschsprung disease;MASA syndrome;Hydrocephalus due to aqueductal stenosis | XLR |
L2HGDH | 609584 | L-2-hydroxyglutaric aciduria | AR |
LAMA1 | 150320 | Poretti-Boltshauser syndrome | AR |
LAMA2 | 156225 | Muscular dystrophy, congenital, merosin deficient or partially deficient;Muscular dystrophy, limb-girdle, autosomal recessive 23 | AR |
LAMB1 | 150240 | Lissencephaly 5 | AR |
LAMB2 | 150325 | Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome | AR |
LAMC3 | 604349 | Cortical malformations, occipital | AR |
LAMP2 | 309060 | Danon disease | XLD |
LARGE1 | 603590 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 | AR |
LARS2 | 604544 | ?Hydrops, lactic acidosis, and sideroblastic anemia;Perrault syndrome 4 | AR |
LAT | 602354 | Immunodeficiency 52 | AR |
LBR | 600024 | ?Reynolds syndrome;Greenberg skeletal dysplasia;Pelger-Huet anomaly;Pelger-Huet anomaly with mild skeletal anomalies | AD, AR |
LDB3 | 605906 | Cardiomyopathy, hypertrophic, 24;Myopathy, myofibrillar, 4;Cardiomyopathy, dilated, 1C, with or without LVNC;Left ventricular noncompaction 3 | AD |
LDHA | 150000 | Glycogen storage disease XI | AR |
LEP | 164160 | Obesity, morbid, due to leptin deficiency | AR |
LGI1 | 604619 | Epilepsy, familial temporal lobe, 1 | AD |
LGI4 | 608303 | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | AR |
LHX3 | 600577 | Pituitary hormone deficiency, combined, 3 | AR |
LHX4 | 602146 | Pituitary hormone deficiency, combined, 4 | AD |
LIAS | 607031 | Hyperglycinemia, lactic acidosis, and seizures | AR |
LIMS2 | 607908 | ?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue | AR |
LINS1 | 610350 | Mental retardation, autosomal recessive 27 | AR |
LIPA | 613497 | Wolman disease;Cholesteryl ester storage disease | AR |
LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
LIPT2 | 617659 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | AR |
LITAF | 603795 | Charcot-Marie-Tooth disease, type 1C | AD |
LMAN2L | 609552 | ?Mental retardation, autosomal recessive, 52 | AR |
LMBRD1 | 612625 | Methylmalonic aciduria and homocystinuria, cblF type | AR |
LMNA | 150330 | Malouf syndrome;Emery-Dreifuss muscular dystrophy 3, AR;Emery-Dreifuss muscular dystrophy 2, AD;Hutchinson-Gilford progeria;Muscular dystrophy, congenital;Restrictive dermopathy, lethal;Lipodystrophy, familial partial, type 2;Charcot-Marie-Tooth disease, type 2B1;Mandibuloacral dysplasia;Cardiomyopathy, dilated, 1A;Heart-hand syndrome, Slovenian type | AD, AR |
LMNB1 | 150340 | Leukodystrophy, adult-onset, AD;Microcephaly 26, primary, AD | AD |
LMOD3 | 616112 | Nemaline myopathy 10 | AR |
LMX1B | 602575 | Nail-patella syndrome;Focal segmental glomerulosclerosis 10 | AD |
LONP1 | 605490 | CODAS syndrome | AR |
LPIN1 | 605518 | Myoglobinuria, acute recurrent, AR | AR |
LRBA | 606453 | Immunodeficiency, common variable, 8, with autoimmunity | AR |
LRP1 | 107770 | ?Keratosis pilaris atrophicans | AR |
LRP10 | 609921 | ||
LRP2 | 600073 | Donnai-Barrow syndrome | AR |
LRP4 | 604270 | ?Myasthenic syndrome, congenital, 17;Cenani-Lenz syndactyly syndrome;Sclerosteosis 2 | AR, AD, AR |
LRPPRC | 607544 | MT complex IV deficiency, nuclear type 5, (French-Canadian) | AR |
LRRK2 | 609007 | Parkinson disease 8 | AD |
LRSAM1 | 610933 | Charcot-Marie-Tooth disease, axonal, type 2P | AD, AR |
LYRM7 | 615831 | MT complex III deficiency, nuclear type 8 | AR |
LYST | 606897 | Chediak-Higashi syndrome | AR |
LZTFL1 | 606568 | Bardet-Biedl syndrome 17 | AR |
LZTR1 | 600574 | Noonan syndrome 2;Schwannomatosis-2, susceptibility to;Noonan syndrome 10 | AR, AD |
MACF1 | 608271 | Lissencephaly 9 with complex brainstem malformation | AD |
MAF | 177075 | Ayme-Gripp syndrome;Cataract 21, multiple types | AD |
MAG | 159460 | Spastic paraplegia 75, AR | AR |
MAGEL2 | 605283 | Schaaf-Yang syndrome | AD |
MAGI2 | 606382 | Nephrotic syndrome, type 15 | AR |
MAGT1 | 300715 | Congenital disorder of glycosylation, type Icc;Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia | XLR |
MAMLD1 | 300120 | Hypospadias 2, XL | XLR |
MAN1B1 | 604346 | Rafiq syndrome | AR |
MAN2B1 | 609458 | Mannosidosis, alpha-, types I and II | AR |
MANBA | 609489 | Mannosidosis, beta | AR |
MAOA | 309850 | Antisocial behavior;Brunner syndrome | XLR |
MAP2K1 | 176872 | Cardiofaciocutaneous syndrome 3;Melorheostosis, isolated, somatic mosaic | AD |
MAP2K2 | 601263 | Cardiofaciocutaneous syndrome 4 | AD |
MAPT | 157140 | Parkinson disease, susceptibility to;Pick disease;Dementia, frontotemporal, with or without parkinsonism;Supranuclear palsy, progressive;Supranuclear palsy, progressive atypical | AD, MF, AD, AR |
MARS1 | 156560 | Charcot-Marie-Tooth disease, axonal, type 2U;?Trichothiodystrophy 9, nonphotosensitive;Interstitial lung and liver disease | AD, AR |
MARS2 | 609728 | Spastic ataxia 3, AR;?Combined oxidative phosphorylation deficiency 25 | AR |
MASP1 | 600521 | 3MC syndrome 1 | AR |
MATR3 | 164015 | Amyotrophic lateral sclerosis 21 | AD |
MBD5 | 611472 | Mental retardation, AD 1 | AD |
MBOAT7 | 606048 | Mental retardation, autosomal recessive 57 | AR |
MBTPS2 | 300294 | Osteogenesis imperfecta, type XIX;?Olmsted syndrome, X-linked;Keratosis follicularis spinulosa decalvans, X-linked;IFAP syndrome with or without BRESHECK syndrome | XLR |
MCCC1 | 609010 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
MCCC2 | 609014 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | AR |
MCEE | 608419 | Methylmalonyl-CoA epimerase deficiency | AR |
MCM4 | 602638 | Immunodeficiency 54 | AR |
MCM6 | 601806 | Lactase persistence/nonpersistence | AD |
MCOLN1 | 605248 | Mucolipidosis IV | AR |
MCPH1 | 607117 | Microcephaly 1, primary, AR | AR |
MDH2 | 154100 | Developmental and epileptic encephalopathy 51 | AR |
MECP2 | 300005 | Rett syndrome, preserved speech variant;Encephalopathy, neonatal severe;Mental retardation, X-linked, syndromic 13;Rett syndrome;Mental retardation, X-linked syndromic, Lubs type;Rett syndrome, atypical;Autism susceptibility, X-linked 3 | XLD, XLR, XL |
MECR | 608205 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | AR |
MED12 | 300188 | Opitz-Kaveggia syndrome;Lujan-Fryns syndrome;Ohdo syndrome, X-linked;Hardikar syndrome | XLR, XLD |
MED13 | 603808 | Intellectual developmental disorder 61 | AD |
MED13L | 608771 | Transposition of the great arteries, dextro-looped 1;Mental retardation and distinctive facial features with or without cardiac defects | AD |
MED17 | 603810 | Microcephaly, postnatal progressive, with seizures and brain atrophy | AR |
MED23 | 605042 | Mental retardation, autosomal recessive 18 | AR |
MED25 | 610197 | Basel-Vanagait-Smirin-Yosef syndrome | AR |
MEF2C | 600662 | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations;Chromosome 5q14.3 deletion syndrome | AD |
MEGF10 | 612453 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant | AR |
MEIS2 | 601740 | Cleft palate, cardiac defects, and mental retardation | AD |
METTL23 | 615262 | Mental retardation, autosomal recessive 44 | AR |
MFF | 614785 | Encephalopathy due to defective MT and peroxisomal fission 2 | AR |
MFN2 | 608507 | Hereditary motor and sensory neuropathy VIA;Charcot-Marie-Tooth disease, axonal, type 2A2B;Charcot-Marie-Tooth disease, axonal, type 2A2A | AD, AR |
MFRP | 606227 | Microphthalmia, isolated 5;Nanophthalmos 2 | AR |
MFSD2A | 614397 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities | AR |
MFSD8 | 611124 | Ceroid lipofuscinosis, neuronal, 7;Macular dystrophy with central cone involvement | AR |
MGAT2 | 602616 | Congenital disorder of glycosylation, type IIa | AR |
MGME1 | 615076 | MT DNA depletion syndrome 11 | AR |
MIB1 | 608677 | Left ventricular noncompaction 7 | AD |
MICU1 | 605084 | Myopathy with extrapyramidal signs | AR |
MID1 | 300552 | Opitz GBBB syndrome, type I | XLR |
MIPEP | 602241 | Combined oxidative phosphorylation deficiency 31 | AR |
MITF | 156845 | Melanoma, cutaneous malignant, susceptibility to, 8;Waardenburg syndrome, type 2A;Waardenburg syndrome/ocular albinism, digenic;Tietz albinism-deafness syndrome;COMMAD syndrome | AD, AR |
MKKS | 604896 | McKusick-Kaufman syndrome;Bardet-Biedl syndrome 6 | AR |
MKS1 | 609883 | Bardet-Biedl syndrome 13;Joubert syndrome 28;Meckel syndrome 1 | AR |
MLC1 | 605908 | Megalencephalic leukoencephalopathy with subcortical cysts | AR |
MLPH | 606526 | Griscelli syndrome, type 3 | AR |
MLYCD | 606761 | Malonyl-CoA decarboxylase deficiency | AR |
MMAA | 607481 | Methylmalonic aciduria, vitamin B12-responsive | AR |
MMAB | 607568 | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type | AR |
MMACHC | 609831 | Methylmalonic aciduria and homocystinuria, cblC type | AR |
MMADHC | 611935 | Methylmalonic aciduria and homocystinuria, cblD type;Methylmalonic aciduria, cblD type, variant 2;Homocystinuria, cblD type, variant 1 | AR |
MMUT | 609058 | Methylmalonic aciduria, mut(0) type | AR |
MOCS1 | 603707 | Molybdenum cofactor deficiency A | AR |
MOCS2 | 603708 | Molybdenum cofactor deficiency B | AR |
MOGS | 601336 | Congenital disorder of glycosylation, type IIb | AR |
MPC1 | 614738 | MT pyruvate carrier deficiency | AR |
MPDU1 | 604041 | Congenital disorder of glycosylation, type If | AR |
MPDZ | 603785 | Hydrocephalus, congenital, 2, with or without brain or eye anomalies | AR |
MPI | 154550 | Congenital disorder of glycosylation, type Ib | AR |
MPV17 | 137960 | Charcot-Marie-Tooth disease, axonal, type 2EE;MT DNA depletion syndrome 6 (hepatocerebral type) | AR |
MPZ | 159440 | Charcot-Marie-Tooth disease, type 2I;Dejerine-Sottas disease;Hypomyelinating neuropathy, congenital, 2;Charcot-Marie-Tooth disease, type 2J;Charcot-Marie-Tooth disease, dominant intermediate D;Charcot-Marie-Tooth disease, type 1B;Roussy-Levy syndrome | AD, AD, AR |
MRE11 | 600814 | Ataxia-telangiectasia-like disorder 1 | AR |
MRPL3 | 607118 | Combined oxidative phosphorylation deficiency 9 | AR |
MRPL44 | 611849 | ?Combined oxidative phosphorylation deficiency 16 | AR |
MRPS16 | 609204 | Combined oxidative phosphorylation deficiency 2 | AR |
MRPS2 | 611971 | Combined oxidative phosphorylation deficiency 36 | AR |
MRPS22 | 605810 | Ovarian dysgenesis 7;Combined oxidative phosphorylation deficiency 5 | AR |
MRPS34 | 611994 | Combined oxidative phosphorylation deficiency 32 | AR |
MSMO1 | 607545 | Microcephaly, congenital cataract, and psoriasiform dermatitis | AR |
MSR1 | 153622 | Barrett esophagus/esophageal adenocarcinoma | |
MSRB3 | 613719 | Deafness, autosomal recessive 74 | AR |
MSTO1 | 617619 | Myopathy, MT, and ataxia | AD, AR |
MSX1 | 142983 | Orofacial cleft 5;Tooth agenesis, selective, 1, with or without orofacial cleft;Ectodermal dysplasia 3, Witkop type | AD |
MSX2 | 123101 | Parietal foramina with cleidocranial dysplasia;Parietal foramina 1;Craniosynostosis 2 | AD |
MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15;MT complex I deficiency, nuclear type 27 | AR |
MTHFD1 | 172460 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia;Neural tube defects, folate-sensitive, susceptibility to | AR |
MTHFR | 607093 | Neural tube defects, susceptibility to;Homocystinuria due to MTHFR deficiency;Schizophrenia, susceptibility to;Thromboembolism, susceptibility to | AR, AD |
MTHFS | 604197 | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | AR |
MTM1 | 300415 | Myotubular myopathy, XL | XLR |
MTMR14 | 611089 | Centronuclear myopathy, autosomal, modifier of | AD |
MTMR2 | 603557 | Charcot-Marie-Tooth disease, type 4B1 | AR |
MTO1 | 614667 | Combined oxidative phosphorylation deficiency 10 | AR |
MTOR | 601231 | Focal cortical dysplasia, type II, somatic;Smith-Kingsmore syndrome | AD |
MTPAP | 613669 | ?Spastic ataxia 4, AR | AR |
MTR | 156570 | Neural tube defects, folate-sensitive, susceptibility to;Homocystinuria-megaloblastic anemia, cblG complementation type | AR |
MTRFR | 613541 | Spastic paraplegia 55, AR;Combined oxidative phosphorylation deficiency 7 | AR |
MTRR | 602568 | Homocystinuria-megaloblastic anemia, cbl E type;Neural tube defects, folate-sensitive, susceptibility to | AR |
MTTP | 157147 | Metabolic syndrome, protection against;Abetalipoproteinemia | AD, AR |
MUSK | 601296 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Fetal akinesia deformation sequence 1 | AR |
MYBPC1 | 160794 | Arthrogryposis, distal, type 1B;Lethal congenital contracture syndrome 4;Myopathy, congenital, with tremor | AD, AR |
MYBPC3 | 600958 | Cardiomyopathy, hypertrophic, 4;Cardiomyopathy, dilated, 1MM;Left ventricular noncompaction 10 | AD, AR, AD |
MYCN | 164840 | Feingold syndrome 1 | AD |
MYH2 | 160740 | Proximal myopathy and ophthalmoplegia | AD, AR |
MYH3 | 160720 | Arthrogryposis, distal, type 2B3 (Sheldon-Hall);Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B;Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A;Arthrogryposis, distal, type 2A (Freeman-Sheldon) | AD, AR |
MYH7 | 160760 | Myopathy, myosin storage, AR;Scapuloperoneal syndrome, myopathic type;Left ventricular noncompaction 5;Cardiomyopathy, dilated, 1S;Cardiomyopathy, hypertrophic, 1;Myopathy, myosin storage, AD;Laing distal myopathy | AR, AD, AD, DD |
MYH8 | 160741 | Trismus-pseudocamptodactyly syndrome;Carney complex variant | AD |
MYL1 | 160780 | Myopathy, congenital, with fast-twitch (type II) fiber atrophy | AR |
MYL2 | 160781 | Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy;Cardiomyopathy, hypertrophic, 10 | AR, AD |
MYMK | 615345 | Carey-Fineman-Ziter syndrome | AR |
MYO18B | 607295 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | AR |
MYO1E | 601479 | Glomerulosclerosis, focal segmental, 6 | AR |
MYO5A | 160777 | Griscelli syndrome, type 1 | AR |
MYO9A | 604875 | Myasthenic syndrome, congenital, 24, presynaptic | AR |
MYO9B | 602129 | Celiac disease, susceptibility to, 4 | |
MYORG | 618255 | Basal ganglia calcification, idiopathic, 7, AR | AR |
MYOT | 604103 | Myopathy, myofibrillar, 3;Myopathy, spheroid body | AD |
MYPN | 608517 | Cardiomyopathy, hypertrophic, 22;Cardiomyopathy, dilated, 1KK;Cardiomyopathy, familial restrictive, 4;Nemaline myopathy 11, AR | AD, AR |
MYT1L | 613084 | Mental retardation, AD 39 | AD |
NAA10 | 300013 | Ogden syndrome;Microphthalmia, syndromic 1 | XLD, XLR, XL |
NAA15 | 608000 | Mental retardation, AD 50 | AD |
NACC1 | 610672 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | AD |
NADK2 | 615787 | 2,4-dienoyl-CoA reductase deficiency | AR |
NAGA | 104170 | Schindler disease, type III;Kanzaki disease;Schindler disease, type I | AR |
NAGLU | 609701 | ?Charcot-Marie-Tooth disease, axonal, type 2V;Mucopolysaccharidosis type IIIB (Sanfilippo B) | AD, AR |
NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
NALCN | 611549 | Congenital contractures of the limbs and face, hypotonia, and developmental delay;Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | AD, AR |
NARS2 | 612803 | ?Deafness, autosomal recessive 94;Combined oxidative phosphorylation deficiency 24 | AR |
NAXD | 615910 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | AR |
NAXE | 608862 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | AR |
NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly;Infantile liver failure syndrome 2 | AR |
NBEA | 604889 | Neurodevelopmental disorder with or without early-onset generalized epilepsy | AD |
NCAPD3 | 609276 | Microcephaly 22, primary, AR | AR |
NDE1 | 609449 | Lissencephaly 4 (with microcephaly);?Microhydranencephaly | AR |
NDP | 300658 | Norrie disease;Exudative vitreoretinopathy 2, XL | XLR, XLD, XLR |
NDRG1 | 605262 | Charcot-Marie-Tooth disease, type 4D | AR |
NDST1 | 600853 | Mental retardation, autosomal recessive 46 | AR |
NDUFA1 | 300078 | MT complex I deficiency, nuclear type 12 | XLR |
NDUFA10 | 603835 | MT complex I deficiency, nuclear type 22 | AR |
NDUFA11 | 612638 | MT complex I deficiency, nuclear type 14 | AR |
NDUFA12 | 614530 | ?MT complex I deficiency, nuclear type 23 | AR |
NDUFA2 | 602137 | MT complex I deficiency, nuclear type 13 | AR |
NDUFA6 | 602138 | MT complex I deficiency, nuclear type 33 | AR |
NDUFA9 | 603834 | MT complex I deficiency, nuclear type 26 | AR |
NDUFAF1 | 606934 | MT complex I deficiency, nuclear type 11 | AR |
NDUFAF2 | 609653 | MT complex I deficiency, nuclear type 10 | AR |
NDUFAF3 | 612911 | MT complex I deficiency, nuclear type 18 | AR |
NDUFAF4 | 611776 | MT complex I deficiency, nuclear type 15 | AR |
NDUFAF5 | 612360 | MT complex I deficiency, nuclear type 16 | AR |
NDUFAF6 | 612392 | MT complex I deficiency, nuclear type 17;Fanconi renotubular syndrome 5 | AR |
NDUFB11 | 300403 | Linear skin defects with multiple congenital anomalies 3;?MT complex I deficiency, nuclear type 30 | XLD, XL |
NDUFB3 | 603839 | MT complex I deficiency, nuclear type 25 | AR |
NDUFB8 | 602140 | MT complex I deficiency, nuclear type 32 | AR |
NDUFB9 | 601445 | ?MT complex I deficiency, nuclear type 24 | AR |
NDUFS1 | 157655 | MT complex I deficiency, nuclear type 5 | AR |
NDUFS2 | 602985 | MT complex I deficiency, nuclear type 6 | AR |
NDUFS3 | 603846 | MT complex I deficiency, nuclear type 8 | AR |
NDUFS4 | 602694 | MT complex I deficiency, nuclear type 1 | AR |
NDUFS6 | 603848 | MT complex I deficiency, nuclear type 9 | AR |
NDUFS7 | 601825 | MT complex I deficiency, nuclear type 3 | AR |
NDUFS8 | 602141 | MT complex I deficiency, nuclear type 2 | AR |
NDUFV1 | 161015 | MT complex I deficiency, nuclear type 4 | AR |
NDUFV2 | 600532 | MT complex I deficiency, nuclear type 7 | AR |
NEB | 161650 | Nemaline myopathy 2, AR;Arthrogryposis multiplex congenita 6 | AR |
NECAP1 | 611623 | Developmental and epileptic encephalopathy 21 | AR |
NECTIN1 | 600644 | Orofacial cleft 7;Cleft lip/palate-ectodermal dysplasia syndrome | AR |
NEDD4L | 606384 | Periventricular nodular heterotopia 7 | AD |
NEFH | 162230 | Charcot-Marie-Tooth disease, axonal, type 2CC;?Amyotrophic lateral sclerosis, susceptibility to | AD, AD, AR |
NEK1 | 604588 | Short-rib thoracic dysplasia 6 with or without polydactyly;Amyotrophic lateral sclerosis, susceptibility to, 24 | AR, DR, AD |
NEK10 | 618726 | Ciliary dyskinesia, primary, 44 | AR |
NEU1 | 608272 | Sialidosis, type I;Sialidosis, type II | AR |
NEUROD2 | 601725 | Developmental and epileptic encephalopathy 72 | AD |
NEXMIF | 300524 | Mental retardation, X-linked 98 | XLD |
NF1 | 613113 | Watson syndrome;Leukemia, juvenile myelomonocytic;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome | AD, AD, SM |
NFE2L2 | 600492 | Immunodeficiency, developmental delay, and hypohomocysteinemia | AD |
NFIA | 600727 | Brain malformations with or without urinary tract defects | AD |
NFIB | 600728 | Macrocephaly, acquired, with impaired intellectual development | AD |
NFIX | 164005 | Marshall-Smith syndrome;Sotos syndrome 2 | AD |
NFU1 | 608100 | Multiple MT dysfunctions syndrome 1 | AR |
NGF | 162030 | Neuropathy, hereditary sensory and autonomic, type V | AR |
NGLY1 | 610661 | Congenital disorder of deglycosylation | AR |
NHEJ1 | 611290 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | |
NHLRC1 | 608072 | Epilepsy, progressive myoclonic 2B (Lafora) | AR |
NHS | 300457 | Nance-Horan syndrome;Cataract 40, XL | XLD, XL |
NIPA1 | 608145 | Spastic paraplegia 6, AD | AD |
NIPBL | 608667 | Cornelia de Lange syndrome 1 | AD |
NKX6-2 | 605955 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | AR |
NLGN3 | 300336 | Autism susceptibility, X-linked 1;Asperger syndrome susceptibility, X-linked 1 | XL, IC, MF, XL |
NLGN4X | 300427 | Asperger syndrome susceptibility, X-linked 2;Autism susceptibility, X-linked 2;Mental retardation, XL | XL, IC, MF, XL |
NLRP12 | 609648 | Familial cold autoinflammatory syndrome 2 | AD |
NLRP3 | 606416 | CINCA syndrome;Deafness, AD 34, with or without inflammation;Keratoendothelitis fugax hereditaria;Familial cold inflammatory syndrome 1;Muckle-Wells syndrome | AD |
NNT | 607878 | Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency | AR |
NOTCH1 | 190198 | Adams-Oliver syndrome 5;Aortic valve disease 1 | AD |
NOTCH2 | 600275 | Alagille syndrome 2;Hajdu-Cheney syndrome | AD |
NOTCH3 | 600276 | ?Myofibromatosis, infantile 2;Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1;Lateral meningocele syndrome | AD |
NPC1 | 607623 | Niemann-Pick disease, type C1;Niemann-Pick disease, type D | AR |
NPC2 | 601015 | Niemann-pick disease, type C2 | AR |
NPHP1 | 607100 | Joubert syndrome 4;Nephronophthisis 1, juvenile;Senior-Loken syndrome-1 | AR |
NPHP3 | 608002 | Nephronophthisis 3;Meckel syndrome 7;Renal-hepatic-pancreatic dysplasia 1 | AR |
NPR2 | 108961 | Acromesomelic dysplasia, Maroteaux type;Short stature with nonspecific skeletal abnormalities;Epiphyseal chondrodysplasia, Miura type | AR, AD |
NPRL2 | 607072 | Epilepsy, familial focal, with variable foci 2 | AD |
NPRL3 | 600928 | Epilepsy, familial focal, with variable foci 3 | AD |
NR2F1 | 132890 | Bosch-Boonstra-Schaaf optic atrophy syndrome | AD |
NR3C2 | 600983 | Hypertension, early-onset, AD, with exacerbation in pregnancy;Pseudohypoaldosteronism type I, AD | AD |
NRXN1 | 600565 | Schizophrenia, susceptibility to, 17;Pitt-Hopkins-like syndrome 2 | AR |
NSD1 | 606681 | Sotos syndrome 1 | AD |
NSD2 | 602952 | Rauch-Steindl syndrome | AD |
NSDHL | 300275 | CK syndrome;CHILD syndrome | XLR, XLD |
NSMCE3 | 608243 | Lung disease, immunodeficiency, and chromosome breakage syndrome | AR |
NSUN2 | 610916 | Mental retardation, autosomal recessive 5 | AR |
NT5C2 | 600417 | Spastic paraplegia 45, AR | AR |
NTHL1 | 602656 | Familial adenomatous polyposis 3 | AR |
NTRK1 | 191315 | Insensitivity to pain, congenital, with anhidrosis | AR |
NTRK2 | 600456 | Developmental and epileptic encephalopathy 58;Obesity, hyperphagia, and developmental delay | AD |
NUBPL | 613621 | MT complex I deficiency, nuclear type 21 | AR |
NUP133 | 607613 | Nephrotic syndrome, type 18;?Galloway-Mowat syndrome 8 | AR |
NUP62 | 605815 | Striatonigral degeneration, infantile | AR |
NUS1 | 610463 | ?Congenital disorder of glycosylation, type 1aa;Mental retardation, AD 55, with seizures | AR, AD |
OAT | 613349 | Gyrate atrophy of choroid and retina with or without ornithinemia | AR |
OCLN | 602876 | Pseudo-TORCH syndrome 1 | AR |
OCRL | 300535 | Lowe syndrome;Dent disease 2 | XLR |
ODAD4 | 617095 | Ciliary dyskinesia, primary, 35 | AR |
OFD1 | 300170 | Joubert syndrome 10;Simpson-Golabi-Behmel syndrome, type 2;?Retinitis pigmentosa 23;Orofaciodigital syndrome I | XLR, XLD |
OGDH | 613022 | Alpha-ketoglutarate dehydrogenase deficiency | AR |
OPA1 | 605290 | Optic atrophy 1;?MT DNA depletion syndrome 14 (encephalocardiomyopathic type);Glaucoma, normal tension, susceptibility to;Optic atrophy plus syndrome;Behr syndrome | AD, AR |
OPA3 | 606580 | 3-methylglutaconic aciduria, type III;Optic atrophy 3 with cataract | AR, AD |
OPHN1 | 300127 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | XLR |
OPTN | 602432 | Glaucoma, normal tension, susceptibility to;Glaucoma 1, open angle, E;Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia | AD |
ORC1 | 601902 | Meier-Gorlin syndrome 1 | AR |
OSGEP | 610107 | Galloway-Mowat syndrome 3 | AR |
OTC | 300461 | Ornithine transcarbamylase deficiency | XL |
OTUD6B | 612021 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | AR |
OXCT1 | 601424 | Succinyl CoA:3-oxoacid CoA transferase deficiency | AR |
P4HA2 | 600608 | Myopia 25, AD | AD |
P4HB | 176790 | Cole-Carpenter syndrome 1 | AD |
P4HTM | 614584 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | AR |
PACS1 | 607492 | Schuurs-Hoeijmakers syndrome | AD |
PACS2 | 610423 | Developmental and epileptic encephalopathy 66 | AD |
PAFAH1B1 | 601545 | Subcortical laminar heterotopia;Lissencephaly 1 | AD |
PAH | 612349 | Phenylketonuria;[Hyperphenylalaninemia, non-PKU mild] | AR |
PAK1 | 602590 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | AD |
PAK3 | 300142 | Mental retardation, X-linked 30/47 | XLR |
PAM16 | 614336 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type | AR |
PANK2 | 606157 | HARP syndrome;Neurodegeneration with brain iron accumulation 1 | AR |
PARK7 | 602533 | Parkinson disease 7, autosomal recessive early-onset | AR |
PARS2 | 612036 | Developmental and epileptic encephalopathy 75 | AR |
PAX3 | 606597 | Waardenburg syndrome, type 3;Rhabdomyosarcoma 2, alveolar;Craniofacial-deafness-hand syndrome;Waardenburg syndrome, type 1 | AD, AR, SM, AD |
PAX6 | 607108 | ?Coloboma, ocular;Aniridia;?Morning glory disc anomaly;Keratitis;Optic nerve hypoplasia;?Coloboma of optic nerve;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy;Foveal hypoplasia 1 | AD |
PAX7 | 167410 | Myopathy, congenital, progressive, with scoliosis;Rhabdomyosarcoma 2, alveolar | AR, SM |
PBX1 | 176310 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | AD |
PC | 608786 | Pyruvate carboxylase deficiency | AR |
PCBD1 | 126090 | Hyperphenylalaninemia, BH4-deficient, D | AR |
PCCA | 232000 | Propionicacidemia | AR |
PCCB | 232050 | Propionicacidemia | AR |
PCDH12 | 605622 | Diencephalic-mesencephalic junction dysplasia syndrome 1 | AR |
PCDH15 | 605514 | Usher syndrome, type 1D/F digenic;Deafness, autosomal recessive 23;Usher syndrome, type 1F | AR, DR, AR |
PCDH19 | 300460 | Developmental and epileptic encephalopathy 9 | XL |
PCK2 | 614095 | PEPCK deficiency, MT | AR |
PCNT | 605925 | Microcephalic osteodysplastic primordial dwarfism, type II | AR |
PCYT2 | 602679 | Spastic paraplegia 82, AR | AR |
PDCD1 | 600244 | Systemic lupus erythematosus, susceptibility to, 2;Multiple sclerosis, disease progression, modifier of | MF |
PDCD10 | 609118 | Cerebral cavernous malformations 3 | AD |
PDE10A | 610652 | Dyskinesia, limb and orofacial, infantile-onset;Striatal degeneration, AD | AR, AD |
PDE6D | 602676 | Joubert syndrome 22 | AR |
PDE8B | 603390 | Striatal degeneration, AD;Pigmented nodular adrenocortical disease, primary, 3 | AD |
PDGFB | 190040 | Meningioma, SIS-related;Basal ganglia calcification, idiopathic, 5;Dermatofibrosarcoma protuberans | AD |
PDGFRB | 173410 | Myeloproliferative disorder with eosinophilia;Myofibromatosis, infantile, 1;Premature aging syndrome, Penttinen type;Basal ganglia calcification, idiopathic, 4;Kosaki overgrowth syndrome | AD |
PDHA1 | 300502 | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | AR |
PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
PDK3 | 300906 | ?Charcot-Marie-Tooth disease, XLD, 6 | XLD |
PDP1 | 605993 | Pyruvate dehydrogenase phosphatase deficiency | AR |
PDSS1 | 607429 | Coenzyme Q10 deficiency, primary, 2 | AR |
PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
PDX1 | 600733 | Pancreatic agenesis 1;MODY, type IV;Diabetes mellitus, type II, susceptibility to | AR, AD |
PDYN | 131340 | Spinocerebellar ataxia 23 | AD |
PER2 | 603426 | ?Advanced sleep phase syndrome, familial, 1 | AD |
PET100 | 614770 | MT complex IV deficiency, nuclear type 12 | AR |
PEX1 | 602136 | Peroxisome biogenesis disorder 1A (Zellweger);Peroxisome biogenesis disorder 1B (NALD/IRD);Heimler syndrome 1 | AR |
PEX10 | 602859 | Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B | AR |
PEX11B | 603867 | Peroxisome biogenesis disorder 14B | AR |
PEX12 | 601758 | Peroxisome biogenesis disorder 3B;Peroxisome biogenesis disorder 3A (Zellweger) | AR |
PEX13 | 601789 | Peroxisome biogenesis disorder 11B;Peroxisome biogenesis disorder 11A (Zellweger) | AR |
PEX14 | 601791 | Peroxisome biogenesis disorder 13A (Zellweger) | AR |
PEX16 | 603360 | Peroxisome biogenesis disorder 8A (Zellweger);Peroxisome biogenesis disorder 8B | AR |
PEX19 | 600279 | Peroxisome biogenesis disorder 12A (Zellweger) | AR |
PEX2 | 170993 | Peroxisome biogenesis disorder 5B;Peroxisome biogenesis disorder 5A (Zellweger) | AR |
PEX26 | 608666 | Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B | AR |
PEX3 | 603164 | Peroxisome biogenesis disorder 10A (Zellweger);?Peroxisome biogenesis disorder 10B | AR |
PEX5 | 600414 | Rhizomelic chondrodysplasia punctata, type 5;Peroxisome biogenesis disorder 2B;Peroxisome biogenesis disorder 2A (Zellweger) | AR |
PEX6 | 601498 | Peroxisome biogenesis disorder 4B;Peroxisome biogenesis disorder 4A (Zellweger);Heimler syndrome 2 | AD, AR, AR |
PEX7 | 601757 | Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata, type 1 | AR |
PFKM | 610681 | Glycogen storage disease VII | AR |
PFN1 | 176610 | Amyotrophic lateral sclerosis 18 | |
PGAM2 | 612931 | Glycogen storage disease X | AR |
PGAP1 | 611655 | Mental retardation, autosomal recessive 42 | AR |
PGAP2 | 615187 | Hyperphosphatasia with mental retardation syndrome 3 | AR |
PGK1 | 311800 | Phosphoglycerate kinase 1 deficiency | XLR |
PGM1 | 171900 | Congenital disorder of glycosylation, type It | AR |
PHACTR1 | 608723 | Developmental and epileptic encephalopathy 70 | AD |
PHF6 | 300414 | Borjeson-Forssman-Lehmann syndrome | XLR |
PHF8 | 300560 | Mental retardation syndrome, X-linked, Siderius type | XLR |
PHGDH | 606879 | Phosphoglycerate dehydrogenase deficiency;Neu-Laxova syndrome 1 | AR |
PHIP | 612870 | Chung-Jansen syndrome | AD |
PHKA1 | 311870 | Muscle glycogenosis | XLR |
PHOX2B | 603851 | Central hypoventilation syndrome, congenital, with or without Hirschsprung disease;Neuroblastoma, susceptibility to, 2;Neuroblastoma with Hirschsprung disease | AD |
PHYH | 602026 | Refsum disease | AR |
PIEZO2 | 613629 | Arthrogryposis, distal, type 3;?Marden-Walker syndrome;Arthrogryposis, distal, type 5;Arthrogryposis, distal, with impaired proprioception and touch | AD, AR |
PIGA | 311770 | Paroxysmal nocturnal hemoglobinuria, somatic;Multiple congenital anomalies-hypotonia-seizures syndrome 2 | XLR |
PIGB | 604122 | Developmental and epileptic encephalopathy 80 | AR |
PIGC | 601730 | Glycosylphosphatidylinositol biosynthesis defect 16 | AR |
PIGG | 616918 | Mental retardation, autosomal recessive 53 | AR |
PIGH | 600154 | Glycosylphosphatidylinositol biosynthesis defect 17 | AR |
PIGL | 605947 | CHIME syndrome | AR |
PIGN | 606097 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | AR |
PIGO | 614730 | Hyperphosphatasia with mental retardation syndrome 2 | AR |
PIGP | 605938 | Developmental and epileptic encephalopathy 55 | AR |
PIGQ | 605754 | Developmental and epileptic encephalopathy 77 | AR |
PIGS | 610271 | Glycosylphosphatidylinositol biosynthesis defect 18 | AR |
PIGT | 610272 | Multiple congenital anomalies-hypotonia-seizures syndrome 3;?Paroxysmal nocturnal hemoglobinuria 2 | AR, AD, SM |
PIGU | 608528 | Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis | AR |
PIGV | 610274 | Hyperphosphatasia with mental retardation syndrome 1 | AR |
PIGW | 610275 | Glycosylphosphatidylinositol biosynthesis defect 11 | AR |
PIK3CA | 171834 | Keratosis, seborrheic, somatic;Ovarian cancer, somatic;CLAPO syndrome, somatic;Macrodactyly, somatic;CLOVE syndrome, somatic;Gastric cancer, somatic;Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic;Colorectal cancer, somatic;Nevus, epidermal, somatic;Breast cancer, somatic;Cowden syndrome 5;Hepatocellular carcinoma, somatic;Nonsmall cell lung cancer, somatic | |
PIK3R2 | 603157 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | AD |
PIK3R5 | 611317 | Ataxia-oculomotor apraxia 3 | AR |
PINK1 | 608309 | Parkinson disease 6, early onset | AR |
PIP5K1C | 606102 | Lethal congenital contractural syndrome 3 | AR |
PITX1 | 602149 | Liebenberg syndrome;Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | AD |
PITX2 | 601542 | Anterior segment dysgenesis 4;Ring dermoid of cornea;Axenfeld-Rieger syndrome, type 1 | AD |
PKLR | 609712 | Adenosine triphosphate, elevated, of erythrocytes;Pyruvate kinase deficiency | AD, AR |
PLA2G6 | 603604 | Neurodegeneration with brain iron accumulation 2B;Parkinson disease 14, AR;Infantile neuroaxonal dystrophy 1 | AR |
PLAA | 603873 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | AR |
PLCB1 | 607120 | Developmental and epileptic encephalopathy 12 | AR |
PLCG2 | 600220 | Familial cold autoinflammatory syndrome 3;Autoinflammation, antibody deficiency, and immune dysregulation syndrome | AD |
PLEC | 601282 | Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with muscular dystrophy;?Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Muscular dystrophy, limb-girdle, autosomal recessive 17 | AD, AR |
PLEKHG2 | 611893 | Leukodystrophy and acquired microcephaly with or without dystonia | AR |
PLEKHG5 | 611101 | Charcot-Marie-Tooth disease, recessive intermediate C;Spinal muscular atrophy, distal, autosomal recessive, 4 | AR |
PLK1 | 602098 | ||
PLK4 | 605031 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | AR |
PLN | 172405 | Cardiomyopathy, dilated, 1P;Cardiomyopathy, hypertrophic, 18 | AD |
PLOD2 | 601865 | Bruck syndrome 2 | AR |
PLP1 | 300401 | Pelizaeus-Merzbacher disease;Spastic paraplegia 2, XL | XLR |
PLPBP | 604436 | Epilepsy, early-onset, vitamin B6-dependent | AR |
PLXNB3 | 300214 | ||
PMM2 | 601785 | Congenital disorder of glycosylation, type Ia | AR |
PMP22 | 601097 | Neuropathy, recurrent, with pressure palsies;Dejerine-Sottas disease;Roussy-Levy syndrome;?Neuropathy, inflammatory demyelinating;Charcot-Marie-Tooth disease, type 1E;Charcot-Marie-Tooth disease, type 1A | AD, AD, AR, ?AD |
PMPCA | 613036 | Spinocerebellar ataxia, autosomal recessive 2 | AR |
PMPCB | 603131 | Multiple MT dysfunctions syndrome 6 | AR |
PNKD | 609023 | Paroxysmal nonkinesigenic dyskinesia 1 | AD |
PNKP | 605610 | Ataxia-oculomotor apraxia 4;Microcephaly, seizures, and developmental delay;?Charcot-Marie-Tooth disease, type 2B2 | AR |
PNPLA2 | 609059 | Neutral lipid storage disease with myopathy | AR |
PNPLA6 | 603197 | Spastic paraplegia 39, AR;Boucher-Neuhauser syndrome;Oliver-McFarlane syndrome;?Laurence-Moon syndrome | AR |
PNPLA8 | 612123 | ?MT myopathy with lactic acidosis | AR |
PNPO | 603287 | Pyridoxamine 5'-phosphate oxidase deficiency | AR |
PNPT1 | 610316 | Deafness, autosomal recessive 70;Combined oxidative phosphorylation deficiency 13 | AR |
POGLUT1 | 615618 | Dowling-Degos disease 4;?Muscular dystrophy, limb-girdle, autosomal recessive 21 | AD, AR |
POGZ | 614787 | White-Sutton syndrome | AD |
POLA1 | 312040 | Van Esch-O'Driscoll syndrome;Pigmentary disorder, reticulate, with systemic manifestations, XL | XLR |
POLG | 174763 | Progressive external ophthalmoplegia, autosomal recessive 1;Progressive external ophthalmoplegia, AD 1;MT recessive ataxia syndrome (includes SANDO and SCAE);MT DNA depletion syndrome 4B (MNGIE type);MT DNA depletion syndrome 4A (Alpers type) | AR, AD |
POLG2 | 604983 | MT DNA depletion syndrome 16 (hepatic type);?MT DNA depletion syndrome 16B (neuroophthalmic type);Progressive external ophthalmoplegia with MT DNA deletions, AD 4 | AR, AD |
POLR1C | 610060 | Leukodystrophy, hypomyelinating, 11;Treacher Collins syndrome 3 | AR |
POLR1D | 613715 | Treacher Collins syndrome 2 | AD, AR |
POLR3A | 614258 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Wiedemann-Rautenstrauch syndrome | AR |
POLR3B | 614366 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism;Charcot-Marie-Tooth disease, demyelinating, type 1I | AR, AD |
POMGNT1 | 606822 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3;Retinitis pigmentosa 76 | AR |
POMGNT2 | 614828 | Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 | AR |
POMK | 615247 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12;?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | AR |
POMT1 | 607423 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 | AR |
POMT2 | 607439 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | AR |
PON1 | 168820 | Microvascular complications of diabetes 5 | |
POP1 | 602486 | Anauxetic dysplasia 2 | AR |
PORCN | 300651 | Focal dermal hypoplasia | XLD |
POT1 | 606478 | Melanoma, cutaneous malignant, susceptibility to, 10;Glioma susceptibility 9 | AD |
POU1F1 | 173110 | Pituitary hormone deficiency, combined, 1 | AD, AR |
PPM1D | 605100 | Jansen de Vries syndrome;Breast cancer, somatic | AD |
PPOX | 600923 | Porphyria variegata | AD |
PPP2CA | 176915 | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | AD |
PPP2R1A | 605983 | Mental retardation, AD 36 | AD |
PPP2R5D | 601646 | Mental retardation, AD 35 | AD |
PPP3CA | 114105 | Epileptic encephalopathy, infantile or early childhood, 1;Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | AD |
PPT1 | 600722 | Ceroid lipofuscinosis, neuronal, 1 | AR |
PQBP1 | 300463 | Renpenning syndrome | XLR |
PREPL | 609557 | Myasthenic syndrome, congenital, 22 | AR |
PRF1 | 170280 | Hemophagocytic lymphohistiocytosis, familial, 2;Lymphoma, non-Hodgkin;Aplastic anemia | AR |
PRICKLE1 | 608500 | Epilepsy, progressive myoclonic 1B | AR |
PRICKLE2 | 608501 | ||
PRKAG2 | 602743 | Glycogen storage disease of heart, lethal congenital;Cardiomyopathy, hypertrophic 6;Wolff-Parkinson-White syndrome | AD |
PRKCA | 176960 | ||
PRKCG | 176980 | Spinocerebellar ataxia 14 | AD |
PRKN | 602544 | Parkinson disease, juvenile, type 2;Ovarian cancer, somatic;Adenocarcinoma of lung, somatic | AR |
PRKRA | 603424 | Dystonia 16 | AR |
PRMT7 | 610087 | Short stature, brachydactyly, intellectual developmental disability, and seizures | AR |
PRNP | 176640 | Insomnia, fatal familial;Creutzfeldt-Jakob disease;Gerstmann-Straussler disease;Prion disease with protracted course;Kuru, susceptibility to;Cerebral amyloid angiopathy, PRNP-related;Huntington disease-like 1 | AD |
PRODH | 606810 | Schizophrenia, susceptibility to, 4;Hyperprolinemia, type I | AD, AR |
PROP1 | 601538 | Pituitary hormone deficiency, combined, 2 | AR |
PRPH | 170710 | Amyotrophic lateral sclerosis, susceptibility to | AD, AR |
PRPS1 | 311850 | Charcot-Marie-Tooth disease, XLR, 5;Deafness, X-linked 1;Phosphoribosylpyrophosphate synthetase superactivity;Arts syndrome;Gout, PRPS-related | XLR, XL |
PRRT2 | 614386 | Episodic kinesigenic dyskinesia 1;Convulsions, familial infantile, with paroxysmal choreoathetosis;Seizures, benign familial infantile, 2 | AD |
PRRX1 | 167420 | Agnathia-otocephaly complex | AD, AR |
PRSS12 | 606709 | Mental retardation, autosomal recessive 1 | AR |
PRX | 605725 | Dejerine-Sottas disease;Charcot-Marie-Tooth disease, type 4F | AD, AR, AR |
PSAP | 176801 | Combined SAP deficiency;Gaucher disease, atypical;Krabbe disease, atypical;Parkinson disease 24, AD, susceptibility to;Metachromatic leukodystrophy due to SAP-b deficiency | AR, AD |
PSAT1 | 610936 | Neu-Laxova syndrome 2;?Phosphoserine aminotransferase deficiency | AR |
PSEN1 | 104311 | Cardiomyopathy, dilated, 1U;Pick disease;Alzheimer disease, type 3;Alzheimer disease, type 3, with spastic paraparesis and apraxia;?Acne inversa, familial, 3;Dementia, frontotemporal;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques | AD |
PSEN2 | 600759 | Alzheimer disease-4;Cardiomyopathy, dilated, 1V | AD |
PSMD12 | 604450 | Stankiewicz-Isidor syndrome | AD |
PSPH | 172480 | Phosphoserine phosphatase deficiency | AR |
PTCH1 | 601309 | Basal cell carcinoma, somatic;Holoprosencephaly 7;Basal cell nevus syndrome | AD |
PTCHD1 | 300828 | Autism, susceptibility to, X-linked 4 | XLR |
PTEN | 601728 | Cowden syndrome 1;Lhermitte-Duclos syndrome;Macrocephaly/autism syndrome;Glioma susceptibility 2;Meningioma;Prostate cancer, somatic | AD |
PTF1A | 607194 | Pancreatic and cerebellar agenesis;Pancreatic agenesis 2 | AR |
PTPN11 | 176876 | Leukemia, juvenile myelomonocytic, somatic;LEOPARD syndrome 1;Metachondromatosis;Noonan syndrome 1 | AD |
PTPN23 | 606584 | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | AR |
PTPRC | 151460 | Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive;Hepatitis C virus, susceptibility to | AR |
PTRH2 | 608625 | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease | AR |
PTS | 612719 | Hyperphenylalaninemia, BH4-deficient, A | AR |
PUM1 | 607204 | Spinocerebellar ataxia 47 | AD |
PURA | 600473 | Mental retardation, AD 31 | AD |
PUS1 | 608109 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | AR |
PUS3 | 616283 | Neurodevelopmental disorder with microcephaly and gray sclerae | AR |
PXDN | 605158 | Anterior segment dysgenesis 7, with sclerocornea | AR |
PYCR1 | 179035 | Cutis laxa, autosomal recessive, type IIB;Cutis laxa, autosomal recessive, type IIIB | AR |
PYCR2 | 616406 | Leukodystrophy, hypomyelinating, 10 | AR |
PYGM | 608455 | McArdle disease | AR |
PYROXD1 | 617220 | Myopathy, myofibrillar, 8 | AR |
QARS1 | 603727 | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy | AR |
QDPR | 612676 | Hyperphenylalaninemia, BH4-deficient, C | AR |
QRICH1 | 617387 | Ververi-Brady syndrome | AD |
RAB11A | 605570 | ||
RAB11B | 604198 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | AD |
RAB18 | 602207 | Warburg micro syndrome 3 | AR |
RAB27A | 603868 | Griscelli syndrome, type 2 | AR |
RAB39B | 300774 | Mental retardation, X-linked 72;Waisman syndrome | XLR |
RAB3GAP1 | 602536 | Martsolf syndrome 2;Warburg micro syndrome 1 | AR |
RAB3GAP2 | 609275 | Warburg micro syndrome 2;Martsolf syndrome | AR |
RAB7A | 602298 | Charcot-Marie-Tooth disease, type 2B | AD |
RAC1 | 602048 | Mental retardation, AD 48 | AD |
RAD21 | 606462 | Cornelia de Lange syndrome 4;?Mungan syndrome | AD, AR |
RAD50 | 604040 | Nijmegen breakage syndrome-like disorder | AR |
RAF1 | 164760 | Noonan syndrome 5;LEOPARD syndrome 2;Cardiomyopathy, dilated, 1NN | AD |
RAI1 | 607642 | Smith-Magenis syndrome | AD, IC |
RALA | 179550 | Hiatt-Neu-Cooper neurodevelopmental syndrome | AD |
RALGAPA1 | 608884 | Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | AR |
RAP1GDS1 | 179502 | ||
RAPSN | 601592 | Fetal akinesia deformation sequence 2;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | AR |
RARS1 | 107820 | Leukodystrophy, hypomyelinating, 9 | AR |
RARS2 | 611524 | Pontocerebellar hypoplasia, type 6 | AR |
RBBP8 | 604124 | Seckel syndrome 2;Jawad syndrome | AR |
RBCK1 | 610924 | Polyglucosan body myopathy 1 with or without immunodeficiency | AR |
RBFOX1 | 605104 | ||
RBM10 | 300080 | TARP syndrome | XLR |
RBM8A | 605313 | Thrombocytopenia-absent radius syndrome | AR |
RDH11 | 607849 | ?Retinal dystrophy, juvenile cataracts, and short stature syndrome | AR |
REEP1 | 609139 | Spastic paraplegia 31, AD;?Neuronopathy, distal hereditary motor, type VB | AD |
REEP2 | 609347 | ?Spastic paraplegia 72, AR;?Spastic paraplegia 72, AD | AD, AR |
RELN | 600514 | Lissencephaly 2 (Norman-Roberts type);Epilepsy, familial temporal lobe, 7 | AR, AD |
RERE | 605226 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | AD |
REST | 600571 | Wilms tumor 6, susceptibility to;Fibromatosis, gingival, 5;?Deafness, AD 27 | AD |
RET | 164761 | Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia IIA;Medullary thyroid carcinoma;Pheochromocytoma;Multiple endocrine neoplasia IIB;Hirschsprung disease, protection against;Central hypoventilation syndrome, congenital | AD |
RETREG1 | 613114 | Neuropathy, hereditary sensory and autonomic, type IIB | AR |
RFT1 | 611908 | Congenital disorder of glycosylation, type In | AR |
RHOBTB2 | 607352 | Developmental and epileptic encephalopathy 64 | AD |
RIMS1 | 606629 | Cone-rod dystrophy 7 | AD |
RIN2 | 610222 | Macrocephaly, alopecia, cutis laxa, and scoliosis | AR |
RMND1 | 614917 | Combined oxidative phosphorylation deficiency 11 | AR |
RNASEH1 | 604123 | Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 2 | AR |
RNASEH2A | 606034 | Aicardi-Goutieres syndrome 4 | AR |
RNASEH2B | 610326 | Aicardi-Goutieres syndrome 2 | AR |
RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
RNASET2 | 612944 | Leukoencephalopathy, cystic, without megalencephaly | AR |
RNF113A | 300951 | Trichothiodystrophy 5, nonphotosensitive | XL |
RNF13 | 609247 | Developmental and epileptic encephalopathy 73 | AD |
RNF135 | 611358 | ||
RNF168 | 612688 | RIDDLE syndrome | AR |
RNF170 | 614649 | Ataxia, sensory, 1, AD;Spastic paraplegia 85, AR | AD, AR |
RNF216 | 609948 | Cerebellar ataxia and hypogonadotropic hypogonadism | AR |
ROBO2 | 602431 | Vesicoureteral reflux 2 | AD |
ROGDI | 614574 | Kohlschutter-Tonz syndrome | AR |
ROR2 | 602337 | Brachydactyly, type B1;Robinow syndrome, AR | AD, AR |
RORA | 600825 | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | AD |
RORB | 601972 | Epilepsy, idiopathic generalized, susceptibility to, 15 | AD |
RPGRIP1L | 610937 | Joubert syndrome 7;?COACH syndrome 3;Meckel syndrome 5 | AR |
RPIA | 180430 | Ribose 5-phosphate isomerase deficiency | AR |
RPL10 | 312173 | Autism, susceptibility to, X-linked 5;Mental retardation, X-linked, syndromic, 35 | XLR |
RPL35A | 180468 | Diamond-Blackfan anemia 5 | AD |
RPS14 | 130620 | Macrocytic anemia, refractory, due to 5q deletion, somatic | |
RPS6KA3 | 300075 | Coffin-Lowry syndrome;Mental retardation, X-linked 19 | XLD |
RRM2B | 604712 | MT DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy);Progressive external ophthalmoplegia with MT DNA deletions, AD 5;MT DNA depletion syndrome 8B (MNGIE type) | AR, AD |
RTN2 | 603183 | Spastic paraplegia 12, AD | AD |
RTN4IP1 | 610502 | Optic atrophy 10 with or without ataxia, mental retardation, and seizures | AR |
RTTN | 610436 | Microcephaly, short stature, and polymicrogyria with seizures | AR |
RUBCN | 613516 | Spinocerebellar ataxia, autosomal recessive 15 | AR |
RUSC2 | 611053 | Mental retardation, autosomal recessive 61 | AR |
RXYLT1 | 605862 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 | AR |
RYR1 | 180901 | Malignant hyperthermia susceptibility 1;King-Denborough syndrome;Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Minicore myopathy with external ophthalmoplegia | AD, AD, AR, AR |
SACS | 604490 | Spastic ataxia, Charlevoix-Saguenay type | AR |
SALL1 | 602218 | Townes-Brocks branchiootorenal-like syndrome;Townes-Brocks syndrome 1 | AD |
SAMD9L | 611170 | Ataxia-pancytopenia syndrome;Monosomy 7 myelodysplasia and leukemia syndrome 1 | AD |
SAMHD1 | 606754 | ?Chilblain lupus 2;Aicardi-Goutieres syndrome 5 | AD, AR |
SARS2 | 612804 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | AR |
SASH1 | 607955 | Dyschromatosis universalis hereditaria 1;?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | AD, AR |
SASS6 | 609321 | ?Microcephaly 14, primary, AR | AR |
SATB2 | 608148 | Glass syndrome | AD |
SBDS | 607444 | Aplastic anemia, susceptibility to;Shwachman-Diamond syndrome | AR |
SBF1 | 603560 | Charcot-Marie-Tooth disease, type 4B3 | AR |
SBF2 | 607697 | Charcot-Marie-Tooth disease, type 4B2 | AR |
SC5D | 602286 | Lathosterolosis | AR |
SCARB2 | 602257 | Epilepsy, progressive myoclonic 4, with or without renal failure | AR |
SCN10A | 604427 | Episodic pain syndrome, familial, 2 | AD |
SCN1A | 182389 | Epilepsy, generalized, with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Developmental and epileptic encephalopathy 6B, non-Dravet;Febrile seizures, familial, 3A;Dravet syndrome | AD |
SCN1B | 600235 | Atrial fibrillation, familial, 13;Epilepsy, generalized, with febrile seizures plus, type 1;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Developmental and epileptic encephalopathy 52 | AD, AR |
SCN2A | 182390 | Developmental and epileptic encephalopathy 11;Seizures, benign familial infantile, 3;Episodic ataxia, type 9 | AD |
SCN3A | 182391 | Epilepsy, familial focal, with variable foci 4;Developmental and epileptic encephalopathy 62 | AD |
SCN4A | 603967 | Paramyotonia congenita;Myotonia congenita, atypical, acetazolamide-responsive;Myasthenic syndrome, congenital, 16;Hyperkalemic periodic paralysis, type 2;Hypokalemic periodic paralysis, type 2 | AD, AR |
SCN8A | 600702 | ?Myoclonus, familial, 2;Cognitive impairment with or without cerebellar ataxia;Developmental and epileptic encephalopathy 13;Seizures, benign familial infantile, 5 | AD |
SCN9A | 603415 | Erythermalgia, primary;Generalized epilepsy with febrile seizures plus, type 7;Febrile seizures, familial, 3B;Neuropathy, hereditary sensory and autonomic, type IID;Insensitivity to pain, congenital;Paroxysmal extreme pain disorder;Small fiber neuropathy | AD, AR |
SCO1 | 603644 | MT complex IV deficiency, nuclear type 4 | AR |
SCO2 | 604272 | Myopia 6;MT complex IV deficiency, nuclear type 2 | AD, AR |
SCYL1 | 607982 | Spinocerebellar ataxia, autosomal recessive 21 | AR |
SDCCAG8 | 613524 | Bardet-Biedl syndrome 16;Senior-Loken syndrome 7 | AR |
SDHA | 600857 | Neurodegeneration with ataxia and late-onset optic atrophy;Cardiomyopathy, dilated, 1GG;Leigh syndrome;MT respiratory chain complex II deficiency;Paragangliomas 5 | AD, AR, AR, MT |
SDHAF1 | 612848 | MT complex II deficiency, nuclear type 2;MT complex II deficiency | AR |
SDHAF2 | 613019 | Paragangliomas 2 | AD |
SDHB | 185470 | Pheochromocytoma;MT complex II deficiency, nuclear type 4;Paragangliomas 4;Paraganglioma and gastric stromal sarcoma;Gastrointestinal stromal tumor | AD, AR, AD, IC |
SDHD | 602690 | MT complex II deficiency;Paraganglioma and gastric stromal sarcoma;Paragangliomas 1, with or without deafness;MT complex II deficiency, nuclear type 3;Pheochromocytoma | AR, AD |
SEC23B | 610512 | Dyserythropoietic anemia, congenital, type II;?Cowden syndrome 7 | AR, AD |
SECISBP2 | 607693 | Thyroid hormone metabolism, abnormal | AR |
SELENOI | 607915 | Spastic paraplegia 81, AR | AR |
SELENON | 606210 | Muscular dystrophy, rigid spine, 1;Myopathy, congenital, with fiber-type disproportion | AR, AD, AR |
SEMA5A | 609297 | ||
SEMA6B | 608873 | Epilepsy, progressive myoclonic, 11 | AD |
SEPSECS | 613009 | Pontocerebellar hypoplasia type 2D | AR |
SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | AR |
SERPINI1 | 602445 | Encephalopathy, familial, with neuroserpin inclusion bodies | AD |
SET | 600960 | Mental retardation, AD 58 | AD |
SETBP1 | 611060 | Schinzel-Giedion midface retraction syndrome;Mental retardation, AD 29 | AD |
SETD1A | 611052 | Neurodevelopmental disorder with speech impairment and dysmorphic facies;Epilepsy, early-onset, with or without developmental delay | AD |
SETD2 | 612778 | Luscan-Lumish syndrome | AD |
SETD5 | 615743 | Mental retardation, AD 23 | AD |
SETX | 608465 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis 4, juvenile | AR, AD |
SF3B1 | 605590 | Myelodysplastic syndrome, somatic | |
SFXN4 | 615564 | Combined oxidative phosphorylation deficiency 18 | AR |
SGCA | 600119 | Muscular dystrophy, limb-girdle, autosomal recessive 3 | AR |
SGCB | 600900 | Muscular dystrophy, limb-girdle, autosomal recessive 4 | AR |
SGCD | 601411 | Muscular dystrophy, limb-girdle, autosomal recessive 6;Cardiomyopathy, dilated, 1L | AR |
SGCE | 604149 | Dystonia-11, myoclonic | AD |
SGCG | 608896 | Muscular dystrophy, limb-girdle, autosomal recessive 5 | AR |
SGSH | 605270 | Mucopolysaccharidosis type IIIA (Sanfilippo A) | AR |
SH3TC2 | 608206 | Mononeuropathy of the median nerve, mild;Charcot-Marie-Tooth disease, type 4C | AD, AR |
SHANK2 | 603290 | Autism susceptibility 17 | |
SHH | 600725 | Schizencephaly;Microphthalmia with coloboma 5;Single median maxillary central incisor;Holoprosencephaly 3 | AD |
SHOC2 | 602775 | Noonan syndrome-like with loose anagen hair 1 | AD |
SHROOM4 | 300579 | Stocco dos Santos X-linked mental retardation syndrome | XL |
SIGMAR1 | 601978 | ?Amyotrophic lateral sclerosis 16, juvenile;?Spinal muscular atrophy, distal, autosomal recessive, 2 | AR |
SIK1 | 605705 | Developmental and epileptic encephalopathy 30 | AD |
SIL1 | 608005 | Marinesco-Sjogren syndrome | AR |
SIN3A | 607776 | Witteveen-Kolk syndrome | AD |
SIX3 | 603714 | Holoprosencephaly 2;Schizencephaly | AD |
SKI | 164780 | Shprintzen-Goldberg syndrome | AD |
SLC12A3 | 600968 | Gitelman syndrome | AR |
SLC12A5 | 606726 | Epilepsy, idiopathic generalized, susceptibility to, 14;Developmental and epileptic encephalopathy 34 | AD, AR |
SLC12A6 | 604878 | Agenesis of the corpus callosum with peripheral neuropathy | AR |
SLC13A3 | 606411 | Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | AR |
SLC13A5 | 608305 | Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta | AR |
SLC16A1 | 600682 | Hyperinsulinemic hypoglycemia, familial, 7;Erythrocyte lactate transporter defect;Monocarboxylate transporter 1 deficiency | AD, AD, AR |
SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
SLC17A5 | 604322 | Sialic acid storage disorder, infantile;Salla disease | AR |
SLC18A3 | 600336 | Myasthenic syndrome, congenital, 21, presynaptic | AR |
SLC19A2 | 603941 | Thiamine-responsive megaloblastic anemia syndrome | AR |
SLC19A3 | 606152 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | AR |
SLC1A1 | 133550 | ?Schizophrenia susceptibility 18;Dicarboxylic aminoaciduria | AR |
SLC1A2 | 600300 | Developmental and epileptic encephalopathy 41 | AD |
SLC1A3 | 600111 | Episodic ataxia, type 6 | AD |
SLC1A4 | 600229 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | AR |
SLC20A2 | 158378 | Basal ganglia calcification, idiopathic, 1 | AD |
SLC22A5 | 603377 | Carnitine deficiency, systemic primary | AR |
SLC25A1 | 190315 | Myasthenic syndrome, congenital, 23, presynaptic;Combined D-2- and L-2-hydroxyglutaric aciduria | AR |
SLC25A12 | 603667 | Developmental and epileptic encephalopathy 39 | AR |
SLC25A13 | 603859 | Citrullinemia, type II, neonatal-onset;Citrullinemia, adult-onset type II | AR |
SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
SLC25A19 | 606521 | Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type);Microcephaly, Amish type | AR |
SLC25A20 | 613698 | Carnitine-acylcarnitine translocase deficiency | AR |
SLC25A22 | 609302 | Developmental and epileptic encephalopathy 3 | AR |
SLC25A26 | 611037 | Combined oxidative phosphorylation deficiency 28 | AR |
SLC25A3 | 600370 | MT phosphate carrier deficiency | AR |
SLC25A38 | 610819 | Anemia, sideroblastic, 2, pyridoxine-refractory | AR |
SLC25A4 | 103220 | MT DNA depletion syndrome 12B (cardiomyopathic type) AR;MT DNA depletion syndrome 12A (cardiomyopathic type) AD;Progressive external ophthalmoplegia with MT DNA deletions, AD 2 | AR, AD |
SLC25A42 | 610823 | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | AR |
SLC25A46 | 610826 | Neuropathy, hereditary motor and sensory, type VIB;Pontocerebellar hypoplasia, type 1E | AR |
SLC27A4 | 604194 | Ichthyosis prematurity syndrome | AR |
SLC2A1 | 138140 | GLUT1 deficiency syndrome 2, childhood onset;GLUT1 deficiency syndrome 1, infantile onset, severe;Epilepsy, idiopathic generalized, susceptibility to, 12;Stomatin-deficient cryohydrocytosis with neurologic defects;Dystonia 9 | AD, AD, AR |
SLC2A10 | 606145 | Arterial tortuosity syndrome | AR |
SLC30A10 | 611146 | Hypermanganesemia with dystonia 1 | AR |
SLC33A1 | 603690 | Congenital cataracts, hearing loss, and neurodegeneration;Spastic paraplegia 42, AD | AR, AD |
SLC35A1 | 605634 | Congenital disorder of glycosylation, type IIf | AR |
SLC35A2 | 314375 | Congenital disorder of glycosylation, type IIm | SM, XLD |
SLC35A3 | 605632 | ?Arthrogryposis, mental retardation, and seizures | AR |
SLC35C1 | 605881 | Congenital disorder of glycosylation, type IIc | AR |
SLC39A14 | 608736 | ?Hyperostosis cranalis interna;Hypermanganesemia with dystonia 2 | AD, AR |
SLC39A8 | 608732 | Congenital disorder of glycosylation, type IIn | AR |
SLC3A1 | 104614 | Cystinuria | AD, AR |
SLC4A10 | 605556 | ||
SLC4A4 | 603345 | Renal tubular acidosis, proximal, with ocular abnormalities | AR |
SLC52A2 | 607882 | Brown-Vialetto-Van Laere syndrome 2 | AR |
SLC52A3 | 613350 | ?Fazio-Londe disease;Brown-Vialetto-Van Laere syndrome 1 | AR |
SLC5A7 | 608761 | Neuronopathy, distal hereditary motor, type VIIA;Myasthenic syndrome, congenital, 20, presynaptic | AD, AR |
SLC6A1 | 137165 | Myoclonic-atonic epilepsy | AD |
SLC6A17 | 610299 | Mental retardation, autosomal recessive 48 | AR |
SLC6A19 | 608893 | Iminoglycinuria, digenic;Hyperglycinuria;Hartnup disorder | AR, DR, AD, AR |
SLC6A3 | 126455 | Nicotine dependence, protection against;Parkinsonism-dystonia, infantile, 1 | AR |
SLC6A4 | 182138 | Obsessive-compulsive disorder;Anxiety-related personality traits | AD |
SLC6A5 | 604159 | Hyperekplexia 3 | AD, AR |
SLC6A8 | 300036 | Cerebral creatine deficiency syndrome 1 | XLR |
SLC6A9 | 601019 | Glycine encephalopathy with normal serum glycine | AR |
SLC7A7 | 603593 | Lysinuric protein intolerance | AR |
SLC9A6 | 300231 | Mental retardation, X-linked syndromic, Christianson type | XL |
SLC9A9 | 608396 | ?Autism susceptibility 16 | |
SLCO1B3 | 605495 | Hyperbilirubinemia, Rotor type, digenic | DR |
SMAD4 | 600993 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Pancreatic cancer, somatic;Myhre syndrome;Polyposis, juvenile intestinal | AD |
SMARCA2 | 600014 | Blepharophimosis-impaired intellectual development syndrome;Nicolaides-Baraitser syndrome | AD |
SMARCA4 | 603254 | Coffin-Siris syndrome 4;Rhabdoid tumor predisposition syndrome 2 | AD |
SMARCB1 | 601607 | Coffin-Siris syndrome 3;Rhabdoid tumor predisposition syndrome 1;Schwannomatosis-1, susceptibility to;Rhabdoid tumors, somatic | AD |
SMARCC2 | 601734 | Coffin-Siris syndrome 8 | AD |
SMARCE1 | 603111 | Coffin-Siris syndrome 5;Meningioma, familial, susceptibility to | AD |
SMC1A | 300040 | Developmental and epileptic encephalopathy 85, with or without midline brain defects;Cornelia de Lange syndrome 2 | XLD |
SMC3 | 606062 | Cornelia de Lange syndrome 3 | AD |
SMCHD1 | 614982 | Bosma arhinia microphthalmia syndrome;Fascioscapulohumeral muscular dystrophy 2, digenic | AD, Digenic dominant |
SMPD1 | 607608 | Niemann-Pick disease, type A;Niemann-Pick disease, type B | AR |
SMPD4 | 610457 | Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | AR |
SMS | 300105 | Mental retardation, X-linked, Snyder-Robinson type | XLR |
SNAI2 | 602150 | Waardenburg syndrome, type 2D;Piebaldism | AR, AD |
SNAP25 | 600322 | ?Myasthenic syndrome, congenital, 18 | AD |
SNAP29 | 604202 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | AR |
SNCA | 163890 | Parkinson disease 1;Dementia, Lewy body;Parkinson disease 4 | AD |
SNCB | 602569 | Dementia, Lewy body | AD |
SNIP1 | 608241 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | AR |
SNTA1 | 601017 | Long QT syndrome 12 | AD |
SNX14 | 616105 | Spinocerebellar ataxia, autosomal recessive 20 | AR |
SNX27 | 611541 | ||
SOBP | 613667 | Mental retardation, anterior maxillary protrusion, and strabismus | AR |
SOD1 | 147450 | Spastic tetraplegia and axial hypotonia, progressive;Amyotrophic lateral sclerosis 1 | AR, AD, AR |
SOD2 | 147460 | Microvascular complications of diabetes 6 | |
SON | 182465 | ZTTK syndrome | AD |
SORL1 | 602005 | ||
SOS1 | 182530 | Noonan syndrome 4;?Fibromatosis, gingival, 1 | AD |
SOX10 | 602229 | Waardenburg syndrome, type 4C;PCWH syndrome;Waardenburg syndrome, type 2E, with or without neurologic involvement | AD |
SOX11 | 600898 | Coffin-Siris syndrome 9 | AD |
SOX2 | 184429 | Microphthalmia, syndromic 3;Optic nerve hypoplasia and abnormalities of the central nervous system | AD |
SOX3 | 313430 | Panhypopituitarism, X-linked;Mental retardation, X-linked, with isolated growth hormone deficiency | XL |
SOX5 | 604975 | Lamb-Shaffer syndrome | AD |
SPART | 607111 | Troyer syndrome | AR |
SPAST | 604277 | Spastic paraplegia 4, AD | AD |
SPATA5 | 613940 | Epilepsy, hearing loss, and mental retardation syndrome | AR |
SPEG | 615950 | Centronuclear myopathy 5 | AR |
SPG11 | 610844 | Spastic paraplegia 11, AR;Amyotrophic lateral sclerosis 5, juvenile;Charcot-Marie-Tooth disease, axonal, type 2X | AR |
SPG21 | 608181 | Mast syndrome | AR |
SPG7 | 602783 | Spastic paraplegia 7, AR | AD, AR |
SPR | 182125 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
SPTAN1 | 182810 | Developmental and epileptic encephalopathy 5 | AD |
SPTBN2 | 604985 | Spinocerebellar ataxia, autosomal recessive 14;Spinocerebellar ataxia 5 | AR, AD |
SPTBN4 | 606214 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | AR |
SPTLC1 | 605712 | Neuropathy, hereditary sensory and autonomic, type IA | AD |
SPTLC2 | 605713 | Neuropathy, hereditary sensory and autonomic, type IC | AD |
SQSTM1 | 601530 | Paget disease of bone 3;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset;Myopathy, distal, with rimmed vacuoles;Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | AD, AR |
SRCAP | 611421 | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities;Floating-Harbor syndrome | AD |
SRD5A3 | 611715 | Congenital disorder of glycosylation, type Iq;Kahrizi syndrome | AR |
SSR4 | 300090 | Congenital disorder of glycosylation, type Iy | XLR |
ST3GAL3 | 606494 | ?Developmental and epileptic encephalopathy 15;Mental retardation, autosomal recessive 12 | AR |
ST3GAL5 | 604402 | Salt and pepper developmental regression syndrome | AR |
STAC3 | 615521 | Myopathy, congenital, Baily-Bloch | AR |
STAG1 | 604358 | Mental retardation, AD 47 | AD |
STAMBP | 606247 | Microcephaly-capillary malformation syndrome | AR |
STAR | 600617 | Lipoid adrenal hyperplasia | AR |
STAT1 | 600555 | Immunodeficiency 31C, chronic mucocutaneous candidiasis, AD;Immunodeficiency 31B, mycobacterial and viral infections, AR;Immunodeficiency 31A, mycobacteriosis, AD | AD, AR |
STAT2 | 600556 | Pseudo-TORCH syndrome 3;Immunodeficiency 44 | AR |
STIL | 181590 | Microcephaly 7, primary, AR | AR |
STIM1 | 605921 | Myopathy, tubular aggregate, 1;Stormorken syndrome;Immunodeficiency 10 | AD, AR |
STRA6 | 610745 | Microphthalmia, isolated, with coloboma 8;Microphthalmia, syndromic 9 | AR |
STRADA | 608626 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | AR |
STT3A | 601134 | Congenital disorder of glycosylation, type Iw, AD;Congenital disorder of glycosylation, type Iw | AD, AR |
STUB1 | 607207 | ?Spinocerebellar ataxia 48;Spinocerebellar ataxia, autosomal recessive 16 | AD, AR |
STX1B | 601485 | Generalized epilepsy with febrile seizures plus, type 9 | AD |
STXBP1 | 602926 | Developmental and epileptic encephalopathy 4 | AD |
SUCLA2 | 603921 | MT DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | AR |
SUCLG1 | 611224 | MT DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | AR |
SUGCT | 609187 | Glutaric aciduria III | AR |
SUMF1 | 607939 | Multiple sulfatase deficiency | AR |
SUN2 | 613569 | ||
SUOX | 606887 | Sulfite oxidase deficiency | AR |
SURF1 | 185620 | Charcot-Marie-Tooth disease, type 4K;MT complex IV deficiency, nuclear type 1 | AR |
SYN1 | 313440 | ?Intellectual developmental disorder, X-linked 50;Epilepsy, X-linked, with variable learning disabilities and behavior disorders | XL, XLD, XLR |
SYN2 | 600755 | Schizophrenia, susceptibility to | AD |
SYNE1 | 608441 | Arthrogryposis multiplex congenita 3, myogenic type;Emery-Dreifuss muscular dystrophy 4, AD;Spinocerebellar ataxia, autosomal recessive 8 | AR, AD |
SYNE2 | 608442 | Emery-Dreifuss muscular dystrophy 5, AD | AD |
SYNGAP1 | 603384 | Mental retardation, AD 5 | AD |
SYNJ1 | 604297 | Developmental and epileptic encephalopathy 53;Parkinson disease 20, early-onset | AR |
SYP | 313475 | Mental retardation, X-linked 96 | XLR |
SYT2 | 600104 | Myasthenic syndrome, congenital, 7B, presynaptic, AR;Myasthenic syndrome, congenital, 7, presynaptic | AR, AD |
SZT2 | 615463 | Developmental and epileptic encephalopathy 18 | AR |
TACO1 | 612958 | MT complex IV deficiency, nuclear type 8 | AR |
TAF1 | 313650 | Mental retardation, X-linked, syndromic 33;Dystonia-Parkinsonism, XL | XLR |
TAF13 | 600774 | Mental retardation, autosomal recessive 60 | AR |
TAF15 | 601574 | Chondrosarcoma, extraskeletal myxoid | |
TAF2 | 604912 | Mental retardation, autosomal recessive 40 | AR |
TAF6 | 602955 | Alazami-Yuan syndrome | AR |
TAFAZZIN | 300394 | Barth syndrome | XLR |
TANGO2 | 616830 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | AR |
TAOK1 | 610266 | Developmental delay with or without intellectual impairment or behavioral abnormalities | AD |
TARDBP | 605078 | Frontotemporal lobar degeneration, TARDBP-related;Amyotrophic lateral sclerosis 10, with or without FTD | AD |
TARS2 | 612805 | ?Combined oxidative phosphorylation deficiency 21 | AR |
TBC1D20 | 611663 | Warburg micro syndrome 4 | AR |
TBC1D23 | 617687 | Pontocerebellar hypoplasia, type 11 | AR |
TBC1D24 | 613577 | Deafness, AD 65;Deafness , autosomal recessive 86;Myoclonic epilepsy, infantile, familial;Developmental and epileptic encephalopathy 16;DOORS syndrome;Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp | AD, AR |
TBCD | 604649 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | AR |
TBCE | 604934 | Hypoparathyroidism-retardation-dysmorphism syndrome;Encephalopathy, progressive, with amyotrophy and optic atrophy;Kenny-Caffey syndrome, type 1 | AR |
TBCK | 616899 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | AR |
TBK1 | 604834 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | AD |
TBL1XR1 | 608628 | Pierpont syndrome;Mental retardation, AD 41 | AD |
TBR1 | 604616 | Intellectual developmental disorder with autism and speech delay | AD |
TBX1 | 602054 | Velocardiofacial syndrome;Tetralogy of Fallot;DiGeorge syndrome;Conotruncal anomaly face syndrome | AD |
TBX3 | 601621 | Ulnar-mammary syndrome | AD |
TCAP | 604488 | Muscular dystrophy, limb-girdle, autosomal recessive 7;Cardiomyopathy, hypertrophic, 25 | AR, AD |
TCF20 | 603107 | Developmental delay with variable intellectual impairment and behavioral abnormalities | AD |
TCF4 | 602272 | Pitt-Hopkins syndrome;Corneal dystrophy, Fuchs endothelial, 3 | AD |
TCIRG1 | 604592 | Osteopetrosis, autosomal recessive 1 | AR |
TCOF1 | 606847 | Treacher Collins syndrome 1 | AD |
TCTN1 | 609863 | Joubert syndrome 13 | AR |
TCTN2 | 613846 | ?Meckel syndrome 8;Joubert syndrome 24 | AR |
TCTN3 | 613847 | Joubert syndrome 18;Orofaciodigital syndrome IV | AR |
TDP1 | 607198 | ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | AR |
TDP2 | 605764 | Spinocerebellar ataxia, autosomal recessive 23 | AR |
TECPR2 | 615000 | Spastic paraplegia 49, AR | AR |
TECR | 610057 | Mental retardation, autosomal recessive 14 | AR |
TECTA | 602574 | Deafness, AD 8/12;Deafness, autosomal recessive 21 | AD, AR |
TENM4 | 610084 | Essential tremor, hereditary, 5 | AD |
TET2 | 612839 | Myelodysplastic syndrome, somatic;Immunodeficiency 75 | AR |
TFAP2A | 107580 | Branchiooculofacial syndrome | AD |
TFAP2B | 601601 | Patent ductus arteriosus 2;Char syndrome | AD |
TFG | 602498 | Hereditary motor and sensory neuropathy, Okinawa type;?Spastic paraplegia 57, AR | AD, AR |
TFR2 | 604720 | Hemochromatosis, type 3 | AR |
TG | 188450 | Thyroid dyshormonogenesis 3;Autoimmune thyroid disease, susceptibility to, 3 | AR |
TGFB1 | 190180 | Camurati-Engelmann disease;Cystic fibrosis lung disease, modifier of;Inflammatory bowel disease, immunodeficiency, and encephalopathy | AD, AR |
TGFB3 | 190230 | Loeys-Dietz syndrome 5;Arrhythmogenic right ventricular dysplasia 1 | AD |
TGIF1 | 602630 | Holoprosencephaly 4 | AD |
TGM6 | 613900 | Spinocerebellar ataxia 35 | AD |
TH | 191290 | Segawa syndrome, recessive | AR |
THAP1 | 609520 | Dystonia 6, torsion | AD |
THRA | 190120 | Hypothyroidism, congenital, nongoitrous, 6 | AD |
THRB | 190160 | Thyroid hormone resistance, AR;Thyroid hormone resistance;Thyroid hormone resistance, selective pituitary | AR, AD |
TIA1 | 603518 | Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia;Welander distal myopathy | AD, AD, AR |
TIMM50 | 607381 | 3-methylglutaconic aciduria, type IX | AR |
TIMM8A | 300356 | Mohr-Tranebjaerg syndrome | XLR |
TIMMDC1 | 615534 | MT complex I deficiency, nuclear type 31 | AR |
TINF2 | 604319 | Revesz syndrome;Dyskeratosis congenita, AD 3 | AD |
TK2 | 188250 | MT DNA depletion syndrome 2 (myopathic type);?Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 3 | AR |
TLK2 | 608439 | Mental retardation, AD 57 | AD |
TMCO1 | 614123 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | AR |
TMEM106B | 613413 | Leukodystrophy, hypomyelinating, 16 | AD |
TMEM126A | 612988 | Optic atrophy 7 | AR |
TMEM126B | 615533 | MT complex I deficiency, nuclear type 29 | AR |
TMEM138 | 614459 | Joubert syndrome 16 | AR |
TMEM165 | 614726 | Congenital disorder of glycosylation, type IIk | AR |
TMEM199 | 616815 | Congenital disorder of glycosylation, type IIp | AR |
TMEM216 | 613277 | Meckel syndrome 2;Joubert syndrome 2 | AR |
TMEM230 | 617019 | ||
TMEM231 | 614949 | Joubert syndrome 20;Meckel syndrome 11 | AR |
TMEM237 | 614423 | Joubert syndrome 14 | AR |
TMEM240 | 616101 | Spinocerebellar ataxia 21 | AD |
TMEM43 | 612048 | Arrhythmogenic right ventricular dysplasia 5;Emery-Dreifuss muscular dystrophy 7, AD | AD |
TMEM67 | 609884 | COACH syndrome 1;?RHYNS syndrome;Meckel syndrome 3;Joubert syndrome 6;Bardet-Biedl syndrome 14, modifier of;Nephronophthisis 11 | AR |
TMEM70 | 612418 | MT complex V (ATP synthase) deficiency, nuclear type 2 | AR |
TMLHE | 300777 | Autism, susceptibility to, X-linked 6 | XLR |
TMTC3 | 617218 | Lissencephaly 8 | AR |
TMX2 | 616715 | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | AR |
TNIK | 610005 | Mental retardation, autosomal recessive 54 | AR |
TNK2 | 606994 | ||
TNNI2 | 191043 | Arthrogryposis, distal, type 2B1 | AD |
TNNT1 | 191041 | Nemaline myopathy 5, Amish type | AR |
TNNT3 | 600692 | Arthrogryposis, distal, type 2B2 | AD |
TNPO3 | 610032 | Muscular dystrophy, limb-girdle, AD 2 | AD |
TOE1 | 613931 | Pontocerebellar hypoplasia, type 7 | AR |
TOP3A | 601243 | Microcephaly, growth restriction, and increased sister chromatid exchange 2;?Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 5 | AR |
TOR1A | 605204 | Dystonia-1, torsion;Arthrogryposis multiplex congenita 5 | AD, AR |
TOR1AIP1 | 614512 | ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures | AR |
TPI1 | 190450 | Hemolytic anemia due to triosephosphate isomerase deficiency | AR |
TPK1 | 606370 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | AR |
TPM2 | 190990 | Arthrogryposis, distal, type 2B4;Arthrogryposis, distal, type 1A;CAP myopathy 2;Nemaline myopathy 4, AD | AD |
TPM3 | 191030 | Myopathy, congenital, with fiber-type disproportion;Nemaline myopathy 1, AD or recessive;CAP myopathy 1 | AD, AR |
TPO | 606765 | Thyroid dyshormonogenesis 2A | AR |
TPP1 | 607998 | Ceroid lipofuscinosis, neuronal, 2;Spinocerebellar ataxia, autosomal recessive 7 | AR |
TRAF3IP1 | 607380 | Senior-Loken syndrome 9 | AR |
TRAF7 | 606692 | Cardiac, facial, and digital anomalies with developmental delay | AD |
TRAK1 | 608112 | Developmental and epileptic encephalopathy 68 | AR |
TRAPPC11 | 614138 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | AR |
TRAPPC4 | 610971 | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | AR |
TRAPPC9 | 611966 | Mental retardation, autosomal recessive 13 | AR |
TREM2 | 605086 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | AR |
TREX1 | 606609 | Aicardi-Goutieres syndrome 1, dominant and recessive;Chilblain lupus;Vasculopathy, retinal, with cerebral leukodystrophy;Systemic lupus erythematosus, susceptibility to | AD, AR, AD |
TRIM2 | 614141 | Charcot-Marie-Tooth disease, type 2R | AR |
TRIM32 | 602290 | Muscular dystrophy, limb-girdle, autosomal recessive 8;?Bardet-Biedl syndrome 11 | AR |
TRIM8 | 606125 | Focal segmental glomerulosclerosis and neurodevelopmental syndrome | AD |
TRIO | 601893 | Intellectual developmental disorder, AD 44, with microcephaly;Intellectual developmental disorder, AD 63, with macrocephaly | AD |
TRIP12 | 604506 | Mental retardation, AD 49 | AD |
TRIP4 | 604501 | Spinal muscular atrophy with congenital bone fractures 1;?Muscular dystrophy, congenital, Davignon-Chauveau type | AR |
TRIT1 | 617840 | Combined oxidative phosphorylation deficiency 35 | AR |
TRMT10A | 616013 | Microcephaly, short stature, and impaired glucose metabolism 1 | AR |
TRMT10C | 615423 | Combined oxidative phosphorylation deficiency 30 | AR |
TRMT5 | 611023 | Combined oxidative phosphorylation deficiency 26 | AR |
TRMU | 610230 | Liver failure, transient infantile;Deafness, MT, modifier of | AR, MT |
TRNT1 | 612907 | Retinitis pigmentosa and erythrocytic microcytosis;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | AR |
TRPC6 | 603652 | Glomerulosclerosis, focal segmental, 2 | AD |
TRPM1 | 603576 | Night blindness, congenital stationary (complete), 1C, AR | |
TRPM6 | 607009 | Hypomagnesemia 1, intestinal | AR |
TRPS1 | 604386 | Trichorhinophalangeal syndrome, type I;Trichorhinophalangeal syndrome, type III | AD |
TRPV4 | 605427 | SED, Maroteaux type;Spondylometaphyseal dysplasia, Kozlowski type;Metatropic dysplasia;Brachyolmia type 3;Neuronopathy, distal hereditary motor, type VIII;[Sodium serum level QTL 1];?Avascular necrosis of femoral head, primary, 2;Scapuloperoneal spinal muscular atrophy;Parastremmatic dwarfism;Hereditary motor and sensory neuropathy, type IIc;Digital arthropathy-brachydactyly, familial | AD |
TRRAP | 603015 | Developmental delay with or without dysmorphic facies and autism;?Deafness, AD 75 | AD |
TSC1 | 605284 | Lymphangioleiomyomatosis;Focal cortical dysplasia, type II, somatic;Tuberous sclerosis-1 | AD |
TSC2 | 191092 | ?Focal cortical dysplasia, type II, somatic;Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2 | AD |
TSEN15 | 608756 | Pontocerebellar hypoplasia, type 2F | AR |
TSEN2 | 608753 | Pontocerebellar hypoplasia type 2B | AR |
TSEN34 | 608754 | ?Pontocerebellar hypoplasia type 2C | AR |
TSEN54 | 608755 | Pontocerebellar hypoplasia type 2A;?Pontocerebellar hypoplasia type 5;Pontocerebellar hypoplasia type 4 | AR |
TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
TSHB | 188540 | Hypothyroidism, congenital, nongoitrous 4 | AR |
TSHR | 603372 | Hyperthyroidism, nonautoimmune;Hypothyroidism, congenital, nongoitrous, 1;Hyperthyroidism, familial gestational | AD, AR |
TSPAN7 | 300096 | Mental retardation, X-linked 58 | XLR |
TTBK2 | 611695 | Spinocerebellar ataxia 11 | AD |
TTC19 | 613814 | MT complex III deficiency, nuclear type 2 | AR |
TTC21B | 612014 | Short-rib thoracic dysplasia 4 with or without polydactyly;Nephronophthisis 12 | AR, AD, AR |
TTC8 | 608132 | Bardet-Biedl syndrome 8;?Retinitis pigmentosa 51 | AR |
TTI2 | 614426 | Mental retardation, autosomal recessive 39 | AR |
TTN | 188840 | Cardiomyopathy, dilated, 1G;Muscular dystrophy, limb-girdle, autosomal recessive 10;Tibial muscular dystrophy, tardive;Myopathy, myofibrillar, 9, with early respiratory failure;Salih myopathy;Cardiomyopathy, familial hypertrophic, 9 | AR, AD |
TTPA | 600415 | Ataxia with isolated vitamin E deficiency | AR |
TTR | 176300 | [Dystransthyretinemic hyperthyroxinemia];Carpal tunnel syndrome, familial;Amyloidosis, hereditary, transthyretin-related | AD |
TUBA1A | 602529 | Lissencephaly 3 | AD |
TUBA4A | 191110 | Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia | AD |
TUBA8 | 605742 | Cortical dysplasia, complex, with other brain malformations 8 | AR |
TUBB2A | 615101 | Cortical dysplasia, complex, with other brain malformations 5 | AD |
TUBB2B | 612850 | Cortical dysplasia, complex, with other brain malformations 7 | AD |
TUBB3 | 602661 | Cortical dysplasia, complex, with other brain malformations 1;Fibrosis of extraocular muscles, congenital, 3A | AD |
TUBB4A | 602662 | Dystonia 4, torsion, AD;Leukodystrophy, hypomyelinating, 6 | AD |
TUBG1 | 191135 | Cortical dysplasia, complex, with other brain malformations 4 | AD |
TUBGCP4 | 609610 | Microcephaly and chorioretinopathy, autosomal recessive, 3 | AR |
TUBGCP6 | 610053 | Microcephaly and chorioretinopathy, autosomal recessive, 1 | AR |
TUFM | 602389 | Combined oxidative phosphorylation deficiency 4 | AR |
TUSC3 | 601385 | Mental retardation, autosomal recessive 7 | AR |
TWIST1 | 601622 | Craniosynostosis 1;Robinow-Sorauf syndrome;Saethre-Chotzen syndrome with or without eyelid anomalies;Sweeney-Cox syndrome | AD |
TWNK | 606075 | Progressive external ophthalmoplegia with MT DNA deletions, AD 3;Perrault syndrome 5;MT DNA depletion syndrome 7 (hepatocerebral type) | AD, AR |
TYMP | 131222 | MT DNA depletion syndrome 1 (MNGIE type) | AR |
TYR | 606933 | [Skin/hair/eye pigmentation 3, light/dark/freckling skin];Waardenburg syndrome/albinism, digenic;[Skin/hair/eye pigmentation 3, blue/green eyes];Melanoma, cutaneous malignant, susceptibility to, 8;Albinism, oculocutaneous, type IA;Albinism, oculocutaneous, type IB | AD, AR |
TYROBP | 604142 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | AR |
UBA1 | 314370 | VEXAS syndrome, somatic;Spinal muscular atrophy, X-linked 2, infantile | XLR |
UBA5 | 610552 | Developmental and epileptic encephalopathy 44;?Spinocerebellar ataxia, autosomal recessive 24 | AR |
UBAP1 | 609787 | Spastic paraplegia 80, AD | AD |
UBE2A | 312180 | Mental retardation, X-linked syndromic, Nascimento-type | XLR |
UBE3A | 601623 | Angelman syndrome | AD |
UBE3B | 608047 | Kaufman oculocerebrofacial syndrome | AR |
UBQLN2 | 300264 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | XLD |
UBR1 | 605981 | Johanson-Blizzard syndrome | AR |
UBTF | 600673 | Neurodegeneration, childhood-onset, with brain atrophy | AD |
UCHL1 | 191342 | ?Parkinson disease 5, susceptibility to;Spastic paraplegia 79, AR | AD, AR |
UFM1 | 610553 | Leukodystrophy, hypomyelinating, 14 | AR |
UGP2 | 191760 | Developmental and epileptic encephalopathy 83 | AR |
UMPS | 613891 | Orotic aciduria | AR |
UNC80 | 612636 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | AR |
UNG | 191525 | Immunodeficiency with hyper IgM, type 5 | AR |
UPB1 | 606673 | Beta-ureidopropionase deficiency | AR |
UPF3B | 300298 | Mental retardation, X-linked, syndromic 14 | XLR |
UQCC2 | 614461 | MT complex III deficiency, nuclear type 7 | AR |
UQCRB | 191330 | MT complex III deficiency, nuclear type 3 | AR |
UQCRC2 | 191329 | MT complex III deficiency, nuclear type 5 | AR |
UQCRQ | 612080 | MT complex III deficiency, nuclear type 4 | AR |
UROC1 | 613012 | ?Urocanase deficiency | AR |
USH2A | 608400 | Usher syndrome, type 2A;Retinitis pigmentosa 39 | AR |
USP8 | 603158 | Pituitary adenoma 4, ACTH-secreting, somatic | |
USP9X | 300072 | Mental retardation, X-linked 99;Mental retardation, X-linked 99, syndromic, female-restricted | XLR, XLD |
USP9Y | 400005 | Spermatogenic failure, Y-linked, 2 | Y-linked |
VAMP1 | 185880 | Myasthenic syndrome, congenital, 25;Spastic ataxia 1, AD | AR, AD |
VAMP2 | 185881 | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | AD |
VANGL1 | 610132 | Caudal regression syndrome;Neural tube defects, susceptibility to | AD |
VAPB | 605704 | Spinal muscular atrophy, late-onset, Finkel type;Amyotrophic lateral sclerosis 8 | AD |
VARS1 | 192150 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | AR |
VARS2 | 612802 | Combined oxidative phosphorylation deficiency 20 | AR |
VCP | 601023 | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1;Charcot-Marie-Tooth disease, type 2Y;Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | AD |
VDR | 601769 | Rickets, vitamin D-resistant, type IIA | AR |
VHL | 608537 | Pheochromocytoma;von Hippel-Lindau syndrome;Renal cell carcinoma, somatic;Erythrocytosis, familial, 2 | AD, AR |
VIPAS39 | 613401 | Arthrogryposis, renal dysfunction, and cholestasis 2 | AR |
VLDLR | 192977 | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 | AR |
VMA21 | 300913 | Myopathy, X-linked, with excessive autophagy | XLR |
VPS11 | 608549 | Leukodystrophy, hypomyelinating, 12;?Dystonia 32 | AR |
VPS13A | 605978 | Choreoacanthocytosis | AR |
VPS13B | 607817 | Cohen syndrome | AR |
VPS13C | 608879 | Parkinson disease 23, autosomal recessive, early onset | AR |
VPS13D | 608877 | Spinocerebellar ataxia, autosomal recessive 4 | AR |
VPS33B | 608552 | Arthrogryposis, renal dysfunction, and cholestasis 1 | AR |
VPS35 | 601501 | Parkinson disease 17 | AD |
VPS37A | 609927 | Spastic paraplegia 53, AR | AR |
VPS53 | 615850 | Pontocerebellar hypoplasia, type 2E | AR |
VRK1 | 602168 | Pontocerebellar hypoplasia type 1A | AR |
WAC | 615049 | Desanto-Shinawi syndrome | AD |
WARS2 | 604733 | Neurodevelopmental disorder, MT, with abnormal movements and lactic acidosis, with or without seizures;Parkinsonism-dystonia 3, childhood-onset | AR |
WASF1 | 605035 | Neurodevelopmental disorder with absent language and variable seizures | AD |
WASHC4 | 615748 | ?Mental retardation, autosomal recessive 43 | AR |
WASHC5 | 610657 | Spastic paraplegia 8, AD;Ritscher-Schinzel syndrome 1 | AD, AR |
WDFY3 | 617485 | ?Microcephaly 18, primary, AD | AD |
WDR26 | 617424 | Skraban-Deardorff syndrome | AD |
WDR37 | 618586 | Neurooculocardiogenitourinary syndrome | AD |
WDR45 | 300526 | Neurodegeneration with brain iron accumulation 5 | XLD |
WDR45B | 609226 | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | AR |
WDR62 | 613583 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | AR |
WDR73 | 616144 | Galloway-Mowat syndrome 1 | AR |
WDR81 | 614218 | Hydrocephalus, congenital, 3, with brain anomalies;Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | AR |
WFS1 | 606201 | ?Cataract 41;Wolfram-like syndrome, AD;Wolfram syndrome 1;Diabetes mellitus, noninsulin-dependent, association with;Deafness, AD 6/14/38 | AD, AR |
WNK1 | 605232 | Neuropathy, hereditary sensory and autonomic, type II;Pseudohypoaldosteronism, type IIC | AR, AD |
WNT1 | 164820 | Osteogenesis imperfecta, type XV;Osteoporosis, early-onset, susceptibility to, AD | AR |
WNT5A | 164975 | Robinow syndrome, AD 1 | AD |
WNT7A | 601570 | Fuhrmann syndrome;Ulna and fibula, absence of, with severe limb deficiency | AR |
WWOX | 605131 | Esophageal squamous cell carcinoma, somatic;Developmental and epileptic encephalopathy 28;Spinocerebellar ataxia, autosomal recessive 12 | AR |
XK | 314850 | McLeod syndrome with or without chronic granulomatous disease | XL |
XPNPEP3 | 613553 | Nephronophthisis-like nephropathy 1 | AR |
XPR1 | 605237 | Basal ganglia calcification, idiopathic, 6 | AD |
YAP1 | 606608 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation | AD |
YARS1 | 603623 | Charcot-Marie-Tooth disease, dominant intermediate C;Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2 | AD, AR |
YARS2 | 610957 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | AR |
YWHAE | 605066 | ||
YWHAG | 605356 | Developmental and epileptic encephalopathy 56 | AD |
YY1 | 600013 | Gabriele-de Vries syndrome | AD |
ZBTB16 | 176797 | Skeletal defects, genital hypoplasia, and mental retardation | AR |
ZBTB18 | 608433 | Mental retardation, AD 22 | AD |
ZBTB20 | 606025 | Primrose syndrome | AD |
ZBTB24 | 614064 | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | AR |
ZC3H14 | 613279 | Mental retardation, autosomal recessive 56 | AR |
ZC4H2 | 300897 | Wieacker-Wolff syndrome;Wieacker-Wolff syndrome, female-restricted | XLR, XLD |
ZDHHC9 | 300646 | Mental retardation, X-linked syndromic, Raymond type | XL |
ZEB2 | 605802 | Mowat-Wilson syndrome | AD |
ZFYVE26 | 612012 | Spastic paraplegia 15, AR | AR |
ZFYVE27 | 610243 | Spastic paraplegia 33, AD | AD |
ZIC1 | 600470 | Structural brain anomalies with impaired intellectual development and craniosynostosis;?Craniosynostosis 6 | AD |
ZIC2 | 603073 | Holoprosencephaly 5 | AD |
ZIC3 | 300265 | VACTERL association, X-linked;Congenital heart defects, nonsyndromic, 1, X-linked;Heterotaxy, visceral, 1, XL | XLR |
ZMYND11 | 608668 | Mental retardation, AD 30 | AD |
ZNF142 | 604083 | Neurodevelopmental disorder with impaired speech and hyperkinetic movements | AR |
ZNF292 | 616213 | Intellectual developmental disorder, AD 64 | AD |
ZNF335 | 610827 | Microcephaly 10, primary, AR | AR |
ZNF41 | 314995 | ||
ZNF423 | 604557 | Joubert syndrome 19;Nephronophthisis 14 | AD, AR |
ZNF699 | 609571 | DEGCAGS syndrome | AR |
ZNF711 | 314990 | Mental retardation, X-linked 97 | XL |
ZNF81 | 314998 |
COMMON SYNDROMES AND DISORDERS COVERED
- Amyotrophic lateral sclerosis
- Arthrogryposis multiplex congenita
- Ataxia
- Dementia
- Dolichoectasia
- Dystonia
- Epilepsy
- Familial hemiplegic migraine
- Frontotemporal dementia
- Hypogonadotropic hypogonadism
- Intellectual disability
- Joubert syndrome
- Kallman syndrome
- Leigh syndrome
- Leukodystrophy and peroxisome biogenesis disorders
- Meckel syndrome
- Mitochondrial encephalomyopathy
- Neonatal mitochondrial hepatopathies
- Neuromuscular disorders
- Parkinson´s disease
- Refsum disease
- Spastic paraplegia
- Tuberous sclerosis
- Zellweger syndrome
Available Downloads

Pediatric Neurology Panels – Product Sheet
A targeted approach for testing neurological disorders
Amyotrohpic lateral sclerosis (ALS)/Dementia panel
Our Amyotrohpic lateral sclerosis (ALS)/Dementia panel includes genes causing Alzheimer‘s, dementia, and frontotemporal dementia, as well as genes used for differential diagnosis with overlap at any point of the natural history of the disease. Genes inside this panel have been carefully selected to increase the diagnostic yield. Actionable diseases overlapping with the phenotype are included (such as Wilson´s disease, Niemann-Pick disease, and hexosaminidase A deficiency). This panel does not detect Huntington disease.
No. of genes: | 105 |
TAT: | 25 days |
Coverage: | ≥99.0% ≥20x |
Details: | CNV analysis included Includes repeat expansion analysis for ATXN2, C9ORF72, PRNP mtDNA analysis included |
Overview of Genes and Associated Diseases (OMIM) Included in This Panel
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
ABCA7 | 605414 | Alzheimer disease 9, susceptibility to | AD |
ALS2 | 606352 | Amyotrophic lateral sclerosis 2, juvenile;Spastic paralysis, infantile onset ascending;Primary lateral sclerosis, juvenile | AR |
ANG | 105850 | Amyotrophic lateral sclerosis 9 | |
ANXA11 | 602572 | Amytrophic lateral sclerosis 23;Inclusion body myopathy and brain white matter abnormalities | AD |
APOE | 107741 | Sea-blue histiocyte disease;Lipoprotein glomerulopathy;?Alzheimer disease, protection against, due to APOE3-Christchurch;Hyperlipoproteinemia, type III;Coronary artery disease, severe, susceptibility to;?Macular degeneration, age-related;Alzheimer disease 2 | AR, AD |
APP | 104760 | Alzheimer disease 1, familial;Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants | AD |
ARSA | 607574 | Metachromatic leukodystrophy | AR |
ATL1 | 606439 | Spastic paraplegia 3A, AD;Neuropathy, hereditary sensory, type ID | AD |
ATP7B | 606882 | Wilson disease | AR |
ATXN2 | 601517 | Spinocerebellar ataxia 2;Parkinson disease, late-onset, susceptibility to;Amyotrophic lateral sclerosis, susceptibility to, 13 | AD, AD, MF |
BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2;Encephalopathy, progressive, with or without lipodystrophy;Silver spastic paraplegia syndrome;Neuropathy, distal hereditary motor, type VC | AR, AD |
C9orf72 | 614260 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | AD |
CCNF | 600227 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | |
CHCHD10 | 615903 | ?Myopathy, isolated MT, AD;Spinal muscular atrophy, Jokela type;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | AD |
CHMP2B | 609512 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | AD |
CP | 117700 | Cerebellar ataxia;Hemosiderosis, systemic, due to aceruloplasminemia;[Hypoceruloplasminemia, hereditary] | AR |
CSF1R | 164770 | Brain abnormalities, neurodegeneration, and dysosteosclerosis;Leukoencephalopathy, diffuse hereditary, with spheroids | AR, AD |
CYLD | 605018 | Trichoepithelioma, multiple familial, 1;?Frontotemporal dementia and/or amytrophic lateral sclerosis 8;Cylindromatosis, familial;Brooke-Spiegler syndrome | AD |
CYP27A1 | 606530 | Cerebrotendinous xanthomatosis | AR |
DCTN1 | 601143 | Perry syndrome;Neuronopathy, distal hereditary motor, type VIIB;Amyotrophic lateral sclerosis, susceptibility to | AD, AD, AR |
ERBB4 | 600543 | Amyotrophic lateral sclerosis 19 | AD |
EWSR1 | 133450 | Ewing sarcoma;Neuroepithelioma | |
FIG4 | 609390 | Amyotrophic lateral sclerosis 11;Yunis-Varon syndrome;Charcot-Marie-Tooth disease, type 4J;?Polymicrogyria, bilateral temporooccipital | AD, AR |
FTL | 134790 | Neurodegeneration with brain iron accumulation 3;Hyperferritinemia-cataract syndrome;L-ferritin deficiency, dominant and recessive | AD, AD, AR |
FUS | 137070 | Essential tremor, hereditary, 4;Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia | AD |
GLE1 | 603371 | Congenital arthrogryposis with anterior horn cell disease;Lethal congenital contracture syndrome 1 | AR |
GRN | 138945 | Ceroid lipofuscinosis, neuronal, 11;Frontotemporal lobar degeneration with ubiquitin-positive inclusions;Aphasia, primary progressive | AR, AD |
HEXA | 606869 | Tay-Sachs disease;[Hex A pseudodeficiency];GM2-gangliosidosis, several forms | AR |
HNRNPA1 | 164017 | Amyotrophic lateral sclerosis 20;?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 | AD |
HNRNPA2B1 | 600124 | ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | AD |
HSPD1 | 118190 | Leukodystrophy, hypomyelinating, 4;Spastic paraplegia 13, AD | AR, AD |
ITM2B | 603904 | Dementia, familial British;?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities;Dementia, familial Danish | AD |
KIF5A | 602821 | Amyotrophic lateral sclerosis, susceptibility to, 25;Myoclonus, intractable, neonatal;Spastic paraplegia 10, AD | AD |
MAPT | 157140 | Parkinson disease, susceptibility to;Pick disease;Dementia, frontotemporal, with or without parkinsonism;Supranuclear palsy, progressive;Supranuclear palsy, progressive atypical | AD, MF, AD, AR |
MATR3 | 164015 | Amyotrophic lateral sclerosis 21 | AD |
MT-ATP6 | |||
MT-ATP8 | |||
MT-CO1 | |||
MT-CO2 | |||
MT-CO3 | |||
MT-CYB | |||
MT-ND1 | |||
MT-ND2 | |||
MT-ND3 | |||
MT-ND4 | |||
MT-ND4L | |||
MT-ND5 | |||
MT-ND6 | |||
MT-RNR1 | |||
MT-RNR2 | |||
MT-TA | |||
MT-TC | |||
MT-TD | |||
MT-TE | |||
MT-TF | |||
MT-TG | |||
MT-TH | |||
MT-TI | |||
MT-TK | |||
MT-TL1 | |||
MT-TL2 | |||
MT-TM | |||
MT-TN | |||
MT-TP | |||
MT-TQ | |||
MT-TR | |||
MT-TS1 | |||
MT-TS2 | |||
MT-TT | |||
MT-TV | |||
MT-TW | |||
MT-TY | |||
NEFH | 162230 | Charcot-Marie-Tooth disease, axonal, type 2CC;?Amyotrophic lateral sclerosis, susceptibility to | AD, AD, AR |
NEK1 | 604588 | Short-rib thoracic dysplasia 6 with or without polydactyly;Amyotrophic lateral sclerosis, susceptibility to, 24 | AR, DR, AD |
NOTCH3 | 600276 | ?Myofibromatosis, infantile 2;Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1;Lateral meningocele syndrome | AD |
NPC1 | 607623 | Niemann-Pick disease, type C1;Niemann-Pick disease, type D | AR |
OPTN | 602432 | Glaucoma, normal tension, susceptibility to;Glaucoma 1, open angle, E;Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia | AD |
PANK2 | 606157 | HARP syndrome;Neurodegeneration with brain iron accumulation 1 | AR |
PFN1 | 176610 | Amyotrophic lateral sclerosis 18 | |
PRNP | 176640 | Insomnia, fatal familial;Creutzfeldt-Jakob disease;Gerstmann-Straussler disease;Prion disease with protracted course;Kuru, susceptibility to;Cerebral amyloid angiopathy, PRNP-related;Huntington disease-like 1 | AD |
PRPH | 170710 | Amyotrophic lateral sclerosis, susceptibility to | AD, AR |
PSEN1 | 104311 | Cardiomyopathy, dilated, 1U;Pick disease;Alzheimer disease, type 3;Alzheimer disease, type 3, with spastic paraparesis and apraxia;?Acne inversa, familial, 3;Dementia, frontotemporal;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques | AD |
PSEN2 | 600759 | Alzheimer disease-4;Cardiomyopathy, dilated, 1V | AD |
REEP1 | 609139 | Spastic paraplegia 31, AD;?Neuronopathy, distal hereditary motor, type VB | AD |
SETX | 608465 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis 4, juvenile | AR, AD |
SIGMAR1 | 601978 | ?Amyotrophic lateral sclerosis 16, juvenile;?Spinal muscular atrophy, distal, autosomal recessive, 2 | AR |
SLC52A3 | 613350 | ?Fazio-Londe disease;Brown-Vialetto-Van Laere syndrome 1 | AR |
SNCA | 163890 | Parkinson disease 1;Dementia, Lewy body;Parkinson disease 4 | AD |
SOD1 | 147450 | Spastic tetraplegia and axial hypotonia, progressive;Amyotrophic lateral sclerosis 1 | AR, AD, AR |
SORL1 | 602005 | ||
SPAST | 604277 | Spastic paraplegia 4, AD | AD |
SPG11 | 610844 | Spastic paraplegia 11, AR;Amyotrophic lateral sclerosis 5, juvenile;Charcot-Marie-Tooth disease, axonal, type 2X | AR |
SQSTM1 | 601530 | Paget disease of bone 3;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset;Myopathy, distal, with rimmed vacuoles;Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | AD, AR |
TAF15 | 601574 | Chondrosarcoma, extraskeletal myxoid | |
TARDBP | 605078 | Frontotemporal lobar degeneration, TARDBP-related;Amyotrophic lateral sclerosis 10, with or without FTD | AD |
TBK1 | 604834 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | AD |
TFG | 602498 | Hereditary motor and sensory neuropathy, Okinawa type;?Spastic paraplegia 57, AR | AD, AR |
TREM2 | 605086 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | AR |
TUBA4A | 191110 | Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia | AD |
TYROBP | 604142 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | AR |
UBE3A | 601623 | Angelman syndrome | AD |
UBQLN2 | 300264 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | XLD |
VAPB | 605704 | Spinal muscular atrophy, late-onset, Finkel type;Amyotrophic lateral sclerosis 8 | AD |
VCP | 601023 | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1;Charcot-Marie-Tooth disease, type 2Y;Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | AD |
WASHC5 | 610657 | Spastic paraplegia 8, AD;Ritscher-Schinzel syndrome 1 | AD, AR |
C9orf72 | 614260 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | AD |
ATXN2 | 601517 | Spinocerebellar ataxia 2;Parkinson disease, late-onset, susceptibility to;Amyotrophic lateral sclerosis, susceptibility to, 13 | AD, AD, MF |
PRNP | 176640 | Insomnia, fatal familial;Creutzfeldt-Jakob disease;Gerstmann-Straussler disease;Prion disease with protracted course;Kuru, susceptibility to;Cerebral amyloid angiopathy, PRNP-related;Huntington disease-like 1 | AD |
Common syndromes and disorders covered
- Alzheimer's disease
- Dementia
- Frontotemporal dementia
- Hexosaminidase A deficiency
- Niemann-Pick disease
- Wilson´s disease
Epilepsy Panel
While some types of seizures are easily categorized (i.e., partial or generalized), others are not or might later develop into different types (i.e., partial seizures with secondary generalization) – making targeted panel testing less likely to succeed at reaching a diagnosis. Our epilepsy panel is a phenotype-directed panel that covers different types of seizure syndromes, covering Dravet syndrome, early infantile epileptic encephalopathy, epilepsy partial, epilepsy generalized, epilepsy absence, myoclonic epilepsy panel, and hypomagnesemia. This panel does not include mitochondrial genes (i.e., genes causing myoclonic epilepsy with ragged red fibers -MERRF-). If the clinical suspicion is oriented towards metabolic or mitochondrial disorders, please order CentoMito comprehensive.
No. of genes: | 784 |
TAT: | 25 days |
Coverage: | ≥99.0% ≥20x |
Details: | CNV analysis included Includes repeat expansion analysis for CSTB mtDNA analysis included |
Overview of Genes and Associated Diseases (OMIM) Included in This Panel
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
AARS1 | 601065 | Trichothiodystrophy 8, nonphotosensitive;Charcot-Marie-Tooth disease, axonal, type 2N;Developmental and epileptic encephalopathy 29;?Leukoencephalopathy, hereditary diffuse, with spheroids 2 | AR, AD |
AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8;Leukoencephalopathy, progressive, with ovarian failure | AR |
ABAT | 137150 | GABA-transaminase deficiency | AR |
ABCC8 | 600509 | Diabetes mellitus, transient neonatal 2;Diabetes mellitus, noninsulin-dependent;Hyperinsulinemic hypoglycemia, familial, 1;Hypoglycemia of infancy, leucine-sensitive;Diabetes mellitus, permanent neonatal 3, with or without neurologic features | AD, AD, AR |
ABCD1 | 300371 | Adrenoleukodystrophy;Adrenomyeloneuropathy, adult | XLR |
ABCD3 | 170995 | ?Bile acid synthesis defect, congenital, 5 | AR |
ACAD9 | 611103 | MT complex I deficiency, nuclear type 20 | AR |
ACADM | 607008 | Acyl-CoA dehydrogenase, medium chain, deficiency of | AR |
ACADS | 606885 | Acyl-CoA dehydrogenase, short-chain, deficiency of | AR |
ACADVL | 609575 | VLCAD deficiency | AR |
ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency;Mitchell syndrome | AR, AD |
ACTL6B | 612458 | Developmental and epileptic encephalopathy 76;Intellectual developmental disorder with severe speech and ambulation defects | AR, AD |
ACY1 | 104620 | Aminoacylase 1 deficiency | AR |
ADA | 608958 | Adenosine deaminase deficiency, partial;Severe combined immunodeficiency due to ADA deficiency | AR, SM |
ADAM22 | 603709 | ?Developmental and epileptic encephalopathy 61 | AR |
ADAMTS10 | 608990 | Weill-Marchesani syndrome 1, recessive | AR |
ADAMTSL2 | 612277 | Geleophysic dysplasia 1 | AR |
ADAR | 146920 | Aicardi-Goutieres syndrome 6;Dyschromatosis symmetrica hereditaria | AR, AD |
ADGRG1 | 604110 | Polymicrogyria, bilateral perisylvian;Polymicrogyria, bilateral frontoparietal | AR |
ADSL | 608222 | Adenylosuccinase deficiency | AR |
AFF3 | 601464 | KINSSHIP syndrome | AD |
AFG3L2 | 604581 | Spinocerebellar ataxia 28;Spastic ataxia 5, AR;Optic atrophy 12 | AD, AR |
AGA | 613228 | Aspartylglucosaminuria | AR |
AGK | 610345 | Sengers syndrome;Cataract 38, AR | AR |
AGPS | 603051 | Rhizomelic chondrodysplasia punctata, type 3 | AR |
AIFM1 | 300169 | Cowchock syndrome;Combined oxidative phosphorylation deficiency 6;Deafness, X-linked 5;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy | XLR |
AIMP1 | 603605 | Leukodystrophy, hypomyelinating, 3 | AR |
AIMP2 | 600859 | Leukodystrophy, hypomyelinating, 17 | AR |
ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
ALDH7A1 | 107323 | Epilepsy, pyridoxine-dependent | AR |
ALDOB | 612724 | Fructose intolerance, hereditary | AR |
ALG1 | 605907 | Congenital disorder of glycosylation, type Ik | AR |
ALG11 | 613666 | Congenital disorder of glycosylation, type Ip | AR |
ALG12 | 607144 | Congenital disorder of glycosylation, type Ig | AR |
ALG13 | 300776 | ?Congenital disorder of glycosylation, type Is;Developmental and epileptic encephalopathy 36 | XL |
ALG2 | 607905 | ?Congenital disorder of glycosylation, type Ii;Myasthenic syndrome, congenital, 14, with tubular aggregates | AR |
ALG3 | 608750 | Congenital disorder of glycosylation, type Id | AR |
ALG6 | 604566 | Congenital disorder of glycosylation, type Ic | AR |
ALG8 | 608103 | Polycystic liver disease 3 with or without kidney cysts;Congenital disorder of glycosylation, type Ih | AD, AR |
ALG9 | 606941 | Congenital disorder of glycosylation, type Il;Gillessen-Kaesbach-Nishimura syndrome | AR |
ALPL | 171760 | Hypophosphatasia, infantile;Odontohypophosphatasia;Hypophosphatasia, childhood;Hypophosphatasia, adult | AR, AD, AR |
AMPD2 | 102771 | ?Spastic paraplegia 63;Pontocerebellar hypoplasia, type 9 | AR |
AMT | 238310 | Glycine encephalopathy | AR |
ANK3 | 600465 | Mental retardation, autosomal recessive, 37 | AR |
ANTXR2 | 608041 | Hyaline fibromatosis syndrome | AR |
AP2M1 | 601024 | Intellectual developmental disorder 60 with seizures | AD |
AP3B1 | 603401 | Hermansky-Pudlak syndrome 2 | AR |
AP3B2 | 602166 | Developmental and epileptic encephalopathy 48 | AR |
AP4B1 | 607245 | Spastic paraplegia 47, AR | AR |
AP4E1 | 607244 | Stuttering, familial persistent, 1;Spastic paraplegia 51, AR | AD, AR |
AP4M1 | 602296 | Spastic paraplegia 50, AR | AR |
AP4S1 | 607243 | Spastic paraplegia 52, AR | AR |
APP | 104760 | Alzheimer disease 1, familial;Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants | AD |
APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
ARG1 | 608313 | Argininemia | AR |
ARHGAP31 | 610911 | Adams-Oliver syndrome 1 | AD |
ARHGEF9 | 300429 | Developmental and epileptic encephalopathy 8 | XL |
ARSA | 607574 | Metachromatic leukodystrophy | AR |
ARSB | 611542 | Mucopolysaccharidosis type VI (Maroteaux-Lamy) | AR |
ARV1 | 611647 | Developmental and epileptic encephalopathy 38 | AR |
ARX | 300382 | Developmental and epileptic encephalopathy 1;Mental retardation, X-linked 29 and others;Hydranencephaly with abnormal genitalia;Partington syndrome;Lissencephaly, X-linked 2;Proud syndrome | XLR, XL |
ASAH1 | 613468 | Spinal muscular atrophy with progressive myoclonic epilepsy;Farber lipogranulomatosis | AR |
ASL | 608310 | Argininosuccinic aciduria | AR |
ASNS | 108370 | Asparagine synthetase deficiency | AR |
ASPA | 608034 | Canavan disease | AR |
ASS1 | 603470 | Citrullinemia | AR |
ASXL1 | 612990 | Bohring-Opitz syndrome;Myelodysplastic syndrome, somatic | AD |
ATM | 607585 | Breast cancer, susceptibility to;Ataxia-telangiectasia | AD, SM, AR |
ATP13A2 | 610513 | Spastic paraplegia 78, AR;Kufor-Rakeb syndrome | AR |
ATP1A2 | 182340 | Developmental and epileptic encephalopathy 98;Alternating hemiplegia of childhood 1;Migraine, familial basilar;Migraine, familial hemiplegic, 2;Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | AD, AR |
ATP6AP1 | 300197 | Immunodeficiency 47 | XLR |
ATP6V0A2 | 611716 | Cutis laxa, autosomal recessive, type IIA;Wrinkly skin syndrome | AR |
ATP6V1A | 607027 | Epileptic encephalopathy, infantile or early childhood, 3;Cutis laxa, autosomal recessive, type IID | AD, AR |
ATP7A | 300011 | Menkes disease;Occipital horn syndrome;Spinal muscular atrophy, distal, X-linked 3 | XLR |
ATP7B | 606882 | Wilson disease | AR |
ATPAF2 | 608918 | ?MT complex V (ATP synthase) deficiency, nuclear type 1 | AR |
ATRX | 300032 | Mental retardation-hypotonic facies syndrome, X-linked;Alpha-thalassemia/mental retardation syndrome;Alpha-thalassemia myelodysplasia syndrome, somatic | XLR, XLD |
AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
B3GALNT2 | 610194 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 | AR |
B3GLCT | 610308 | Peters-plus syndrome | AR |
B4GALT1 | 137060 | Congenital disorder of glycosylation, type IId | AR |
BCAP31 | 300398 | Deafness, dystonia, and cerebral hypomyelination | XLR |
BCKDHA | 608348 | Maple syrup urine disease, type Ia | AR |
BCKDHB | 248611 | Maple syrup urine disease, type Ib | AR |
BCS1L | 603647 | GRACILE syndrome;Bjornstad syndrome;MT complex III deficiency, nuclear type 1 | AR |
BEST1 | 607854 | Macular dystrophy, vitelliform, 2;Retinitis pigmentosa-50;?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2;Vitreoretinochoroidopathy;Bestrophinopathy, AR;Retinitis pigmentosa, concentric | AD |
BOLA3 | 613183 | Multiple MT dysfunctions syndrome 2 with hyperglycinemia | AR |
BRAT1 | 614506 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures;Rigidity and multifocal seizure syndrome, lethal neonatal | AR |
BTD | 609019 | Biotinidase deficiency | AR |
C12orf57 | 615140 | Temtamy syndrome | AR |
C19orf12 | 614297 | Neurodegeneration with brain iron accumulation 4;?Spastic paraplegia 43, AR | AD, AR, AR |
CA5A | 114761 | Hyperammonemia due to carbonic anhydrase VA deficiency | AR |
CACNA1A | 601011 | Episodic ataxia, type 2;Migraine, familial hemiplegic, 1;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia;Spinocerebellar ataxia 6;Developemental and epileptic encephalopathy 42 | AD |
CACNA1E | 601013 | Developmental and epileptic encephalopathy 69 | AD |
CACNA1H | 607904 | Hyperaldosteronism, familial, type IV;Epilepsy, childhood absence, susceptibility to, 6;Epilepsy, idiopathic generalized, susceptibility to, 6 | AD |
CACNA2D2 | 607082 | Cerebellar atrophy with seizures and variable developmental delay | AR |
CACNB4 | 601949 | Epilepsy, juvenile myoclonic, susceptibility to, 6;Epilepsy, idiopathic generalized, susceptibility to, 9;Episodic ataxia, type 5 | AD |
CARS2 | 612800 | Combined oxidative phosphorylation deficiency 27 | AR |
CASK | 300172 | Mental retardation, with or without nystagmus;Mental retardation and microcephaly with pontine and cerebellar hypoplasia;FG syndrome 4 | XLD |
CAV1 | 601047 | Pulmonary hypertension, primary, 3;Lipodystrophy, familial partial, type 7;?Lipodystrophy, congenital generalized, type 3 | AD, AR |
CBS | 613381 | Thrombosis, hyperhomocysteinemic;Homocystinuria, B6-responsive and nonresponsive types | AR |
CCDC115 | 613734 | Congenital disorder of glycosylation, type IIo | AR |
CCDC88A | 609736 | ?PEHO syndrome-like | AR |
CDKL5 | 300203 | Developmental and epileptic encephalopathy 2 | XLD |
CERS1 | 606919 | ?Epilepsy, progressive myoclonic, 8 | AR |
CHD2 | 602119 | Epileptic encephalopathy, childhood-onset | AD |
CHMP2B | 609512 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | AD |
CHRNA2 | 118502 | Epilepsy, nocturnal frontal lobe, type 4 | AD |
CHRNA4 | 118504 | Nicotine addiction, susceptibility to;Epilepsy, nocturnal frontal lobe, 1 | AD |
CHRNA7 | 118511 | ||
CHRNB2 | 118507 | Epilepsy, nocturnal frontal lobe, 3 | |
CIC | 612082 | Mental retardation, AD 45 | AD |
CLCN2 | 600570 | Epilepsy, juvenile absence, susceptibility to, 2;Hyperaldosteronism, familial, type II;Epilepsy, juvenile myoclonic, susceptibility to, 8;Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with ataxia | AD, AR |
CLCN4 | 302910 | Raynaud-Claes syndrome | XLD |
CLDN16 | 603959 | Hypomagnesemia 3, renal | AR |
CLDN19 | 610036 | Hypomagnesemia 5, renal, with ocular involvement | AR |
CLN3 | 607042 | Ceroid lipofuscinosis, neuronal, 3 | AR |
CLN5 | 608102 | Ceroid lipofuscinosis, neuronal, 5 | AR |
CLN6 | 606725 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset;Ceroid lipofuscinosis, neuronal, 6 | AR |
CLN8 | 607837 | Ceroid lipofuscinosis, neuronal, 8;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant | AR |
CLP1 | 608757 | Pontocerebellar hypoplasia, type 10 | AR |
CLPP | 601119 | Perrault syndrome 3 | AR |
CLTC | 118955 | Mental retardation, AD 56 | AD |
CNNM2 | 607803 | Hypomagnesemia 6, renal;Hypomagnesemia, seizures, and mental retardation | AD, AD, AR |
CNPY3 | 610774 | Developmental and epileptic encephalopathy 60 | AR |
CNTNAP1 | 602346 | Lethal congenital contracture syndrome 7;Hypomyelinating neuropathy, congenital, 3 | AR |
CNTNAP2 | 604569 | Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1;Autism susceptibility 15 | AR |
COA7 | 615623 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | AR |
COA8 | 616003 | MT complex IV deficiency, nuclear type 17 | AR |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6;Pontocerebellar hypoplasia, type 12 | AR |
COG1 | 606973 | Congenital disorder of glycosylation, type IIg | AR |
COG4 | 606976 | Congenital disorder of glycosylation, type IIj;Saul-Wilson syndrome | AR, AD |
COG5 | 606821 | Congenital disorder of glycosylation, type IIi | AR |
COG6 | 606977 | Shaheen syndrome;Congenital disorder of glycosylation, type IIl | AR |
COG7 | 606978 | Congenital disorder of glycosylation, type IIe | AR |
COG8 | 606979 | Congenital disorder of glycosylation, type IIh | |
COL11A2 | 120290 | Deafness, autosomal recessive 53;Otospondylomegaepiphyseal dysplasia, AR;Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, AD;Deafness, AD 13 | AR, AD, AR, AD |
COL18A1 | 120328 | Glaucoma, primary closed-angle;Knobloch syndrome, type 1 | AD, AR |
COL2A1 | 120140 | Legg-Calve-Perthes disease;Stickler syndrome, type I;Osteoarthritis with mild chondrodysplasia;Platyspondylic skeletal dysplasia, Torrance type;Spondyloepiphyseal dysplasia, Stanescu type;Kniest dysplasia;Czech dysplasia;Stickler sydrome, type I, nonsyndromic ocular;?Vitreoretinopathy with phalangeal epiphyseal dysplasia;?Epiphyseal dysplasia, multiple, with myopia and deafness;Avascular necrosis of the femoral head;Spondyloperipheral dysplasia;Achondrogenesis, type II or hypochondrogenesis;SMED Strudwick type;SED congenita | AD |
COL4A1 | 120130 | ?Retinal arteries, tortuosity of;Hemorrhage, intracerebral, susceptibility to;Microangiopathy and leukoencephalopathy, pontine, AD;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with or without ocular anomalies | AD |
COL4A2 | 120090 | Hemorrhage, intracerebral, susceptibility to;Brain small vessel disease 2 | AD |
COLGALT1 | 617531 | Brain small vessel disease 3 | AR |
COQ2 | 609825 | Coenzyme Q10 deficiency, primary, 1;Multiple system atrophy, susceptibility to | AR, AD, AR |
COQ8A | 606980 | Coenzyme Q10 deficiency, primary, 4 | AR |
COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
COX10 | 602125 | MT complex IV deficiency, nuclear type 3 | AR |
COX15 | 603646 | MT complex IV deficiency, nuclear type 6 | AR |
COX20 | 614698 | MT complex IV deficiency, nuclear type 11 | AR |
COX6B1 | 124089 | MT complex IV deficiency, nuclear type 7 | AR |
CP | 117700 | Cerebellar ataxia;Hemosiderosis, systemic, due to aceruloplasminemia;[Hypoceruloplasminemia, hereditary] | AR |
CPA6 | 609562 | Febrile seizures, familial, 11;Epilepsy, familial temporal lobe, 5 | AR, AD, AR |
CPLX1 | 605032 | Developmental and epileptic encephalopathy 63 | AR |
CPS1 | 608307 | Carbamoylphosphate synthetase I deficiency;Pulmonary hypertension, neonatal, susceptibility to | AR |
CPT1A | 600528 | CPT deficiency, hepatic, type IA | AR |
CPT2 | 600650 | CPT II deficiency, myopathic, stress-induced;CPT II deficiency, infantile;Encephalopathy, acute, infection-induced, 4, susceptibility to;CPT II deficiency, lethal neonatal | AD, AR, AR |
CSF1R | 164770 | Brain abnormalities, neurodegeneration, and dysosteosclerosis;Leukoencephalopathy, diffuse hereditary, with spheroids | AR, AD |
CSNK2B | 115441 | Poirier-Bienvenu neurodevelopmental syndrome | AD |
CSTB | 601145 | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | AR |
CTC1 | 613129 | Cerebroretinal microangiopathy with calcifications and cysts | AR |
CTNNA2 | 114025 | Cortical dysplasia, complex, with other brain malformations 9 | AR |
CTNS | 606272 | Cystinosis, late-onset juvenile or adolescent nephropathic;Cystinosis, ocular nonnephropathic;Cystinosis, nephropathic;Cystinosis, atypical nephropathic | AR |
CTSA | 613111 | Galactosialidosis | AR |
CTSC | 602365 | Periodontitis 1, juvenile;Haim-Munk syndrome;Papillon-Lefevre syndrome | AR |
CTSD | 116840 | Ceroid lipofuscinosis, neuronal, 10 | AR |
CTSF | 603539 | Ceroid lipofuscinosis, neuronal, 13, Kufs type | AR |
CTSK | 601105 | Pycnodysostosis | AR |
CYFIP2 | 606323 | Developmental and epileptic encephalopathy 65 | AD |
CYP27A1 | 606530 | Cerebrotendinous xanthomatosis | AR |
CYP2U1 | 610670 | Spastic paraplegia 56, AR | AR |
CYP7B1 | 603711 | Spastic paraplegia 5A, AR;Bile acid synthesis defect, congenital, 3 | AR |
D2HGDH | 609186 | D-2-hydroxyglutaric aciduria | AR |
DAG1 | 128239 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 | AR |
DARS1 | 603084 | Hypomyelination with brainstem and spinal cord involvement and leg spasticity | AR |
DARS2 | 610956 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
DBT | 248610 | Maple syrup urine disease, type II | AR |
DCAF17 | 612515 | Woodhouse-Sakati syndrome | AR |
DCX | 300121 | Lissencephaly, X-linked;Subcortical laminal heterotopia, XL | XL |
DEAF1 | 602635 | Vulto-van Silfout-de Vries syndrome;Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures | AD, AR |
DEGS1 | 615843 | Leukodystrophy, hypomyelinating, 18 | AR |
DENND5A | 617278 | Developmental and epileptic encephalopathy 49 | AR |
DEPDC5 | 614191 | Epilepsy, familial focal, with variable foci 1 | AD |
DGUOK | 601465 | Portal hypertension, noncirrhotic;Progressive external ophthalmoplegia with MT DNA deletions, autosomal recessive 4;MT DNA depletion syndrome 3 (hepatocerebral type) | AR |
DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
DHDDS | 608172 | Developmental delay and seizures with or without movement abnormalities;Retinitis pigmentosa 59;?Congenital disorder of glycosylation, type 1bb | AD, AR |
DHFR | 126060 | Megaloblastic anemia due to dihydrofolate reductase deficiency | AR |
DHX30 | 616423 | Neurodevelopmental disorder with severe motor impairment and absent language | AD |
DIAPH1 | 602121 | Seizures, cortical blindness, microcephaly syndrome;Deafness, AD 1, with or without thrombocytopenia | AR, AD |
DKC1 | 300126 | Dyskeratosis congenita, XL | XLR |
DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
DLD | 238331 | Dihydrolipoamide dehydrogenase deficiency | AR |
DLL3 | 602768 | Spondylocostal dysostosis 1, AR | AR |
DNAJC5 | 611203 | Ceroid lipofuscinosis, neuronal, 4, Parry type | AD |
DNM1 | 602377 | Developmental and epileptic encephalopathy 31 | AD |
DNM1L | 603850 | Optic atrophy 5;Encephalopathy, lethal, due to defective MT peroxisomal fission 1 | AD, AD, AR |
DOCK6 | 614194 | Adams-Oliver syndrome 2 | AR |
DOCK7 | 615730 | Developmental and epileptic encephalopathy 23 | AR |
DOLK | 610746 | Congenital disorder of glycosylation, type Im | AR |
DPAGT1 | 191350 | Myasthenic syndrome, congenital, 13, with tubular aggregates;Congenital disorder of glycosylation, type Ij | AR |
DPM1 | 603503 | Congenital disorder of glycosylation, type Ie | AR |
DPM2 | 603564 | Congenital disorder of glycosylation, type Iu | AR |
DPM3 | 605951 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15;?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 | AR |
DPYD | 612779 | 5-fluorouracil toxicity;Dihydropyrimidine dehydrogenase deficiency | AR |
DPYS | 613326 | Dihydropyrimidinuria | AR |
DYM | 607461 | Dyggve-Melchior-Clausen disease;Smith-McCort dysplasia | AR |
DYRK1A | 600855 | Mental retardation, AD 7 | AD |
EARS2 | 612799 | Combined oxidative phosphorylation deficiency 12 | AR |
ECHS1 | 602292 | MT short-chain enoyl-CoA hydratase 1 deficiency | AR |
EEF1A2 | 602959 | Mental retardation, AD 38;Developmental and epileptic encephalopathy 33 | AD |
EFHC1 | 608815 | Epilepsy, juvenile absence, susceptibility to, 1;Myoclonic epilepsy, juvenile, susceptibility to, 1 | AD |
EGF | 131530 | Hypomagnesemia 4, renal | AR |
EIF2B1 | 606686 | Leukoencephalopathy with vanishing white matter | AR |
EIF2B2 | 606454 | Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter | AR |
EIF2B3 | 606273 | Leukoencephalopathy with vanishing white matter | AR |
EIF2B4 | 606687 | Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter | AR |
EIF2B5 | 603945 | Ovarioleukodystrophy;Leukoencephalopathy with vanishing white matter | AR |
EIF3F | 603914 | Mental retardation, autosomal recessive 67 | AR |
EMC10 | 614545 | Neurodevelopmental disorder with dysmorphic facies and variable seizures | AR |
EML1 | 602033 | Band heterotopia | AR |
EPG5 | 615068 | Vici syndrome | AR |
EPM2A | 607566 | Epilepsy, progressive myoclonic 2A (Lafora) | AR |
EPRS1 | 138295 | Leukodystrophy, hypomyelinating, 15 | AR |
ERCC6 | 609413 | Lung cancer, susceptibility to;UV-sensitive syndrome 1;Premature ovarian failure 11;Macular degeneration, age-related, susceptibility to, 5;Cockayne syndrome, type B;De Sanctis-Cacchione syndrome;Cerebrooculofacioskeletal syndrome 1 | AD, SM, AR, AD |
ERCC8 | 609412 | Cockayne syndrome, type A;UV-sensitive syndrome 2 | AR |
ETFA | 608053 | Glutaric acidemia IIA | AR |
ETFB | 130410 | Glutaric acidemia IIB | AR |
ETFDH | 231675 | Glutaric acidemia IIC | AR |
ETHE1 | 608451 | Ethylmalonic encephalopathy | AR |
F2 | 176930 | Dysprothrombinemia;Stroke, ischemic, susceptibility to;Pregnancy loss, recurrent, susceptibility to, 2;Hypoprothrombinemia;Thrombophilia due to thrombin defect | AR, MF, AD |
F5 | 612309 | Pregnancy loss, recurrent, susceptibility to, 1;Factor V deficiency;Stroke, ischemic, susceptibility to;Budd-Chiari syndrome;Thrombophilia, susceptibility to, due to factor V Leiden;Thrombophilia due to activated protein C resistance | AD, AR, MF |
FA2H | 611026 | Spastic paraplegia 35, AR | AR |
FAH | 613871 | Tyrosinemia, type I | AR |
FAM126A | 610531 | Leukodystrophy, hypomyelinating, 5 | AR |
FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14;Spastic paraplegia 77, AR | AR |
FARSB | 609690 | Rajab interstitial lung disease with brain calcifications 1 | AR |
FASTKD2 | 612322 | Combined oxidative phosphorylation deficiency 44 | AR |
FBXL4 | 605654 | MT DNA depletion syndrome 13 (encephalomyopathic type) | AR |
FDX2 | 614585 | MT myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | AR |
FGF12 | 601513 | Developmental and epileptic encephalopathy 47 | AD |
FH | 136850 | Fumarase deficiency;Leiomyomatosis and renal cell cancer | AR, AD |
FHL1 | 300163 | Reducing body myopathy, X-linked 1b, with late childhood or adult onset;Scapuloperoneal myopathy, XLD;?Uruguay faciocardiomusculoskeletal syndrome;Myopathy, X-linked, with postural muscle atrophy;Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset;Emery-Dreifuss muscular dystrophy 6, XL | XL, XLD, XLR |
FIG4 | 609390 | Amyotrophic lateral sclerosis 11;Yunis-Varon syndrome;Charcot-Marie-Tooth disease, type 4J;?Polymicrogyria, bilateral temporooccipital | AD, AR |
FKRP | 606596 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | AR |
FLVCR2 | 610865 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | AR |
FOLR1 | 136430 | Neurodegeneration due to cerebral folate transport deficiency | AR |
FOXG1 | 164874 | Rett syndrome, congenital variant | AD |
FOXRED1 | 613622 | MT complex I deficiency, nuclear type 19 | AR |
FRRS1L | 604574 | Developmental and epileptic encephalopathy 37 | AR |
FTL | 134790 | Neurodegeneration with brain iron accumulation 3;Hyperferritinemia-cataract syndrome;L-ferritin deficiency, dominant and recessive | AD, AD, AR |
FUCA1 | 612280 | Fucosidosis | AR |
FUT8 | 602589 | Congenital disorder of glycosylation with defective fucosylation 1 | AR |
FXYD2 | 601814 | Hypomagnesemia 2, renal | AD |
GAA | 606800 | Glycogen storage disease II | AR |
GABBR2 | 607340 | Nicotine dependence, susceptibility to;Neurodevelopmental disorder with poor language and loss of hand skills;Developmental and epileptic encephalopathy 59;Nicotine dependence, protection against | AD |
GABRA1 | 137160 | Developmental and epileptic encephalopathy 19;Epilepsy, childhood absence, susceptibility to, 4;Epilepsy, juvenile myoclonic, susceptibility to, 5 | AD |
GABRA2 | 137140 | Alcohol dependence, susceptibility to;Developmental and epileptic encephalopathy 78 | MF, AD |
GABRB1 | 137190 | Developmental and epileptic encephalopathy 45 | AD |
GABRB2 | 600232 | Epileptic encephalopathy, infantile or early childhood, 2 | AD |
GABRB3 | 137192 | Epilepsy, childhood absence, susceptibility to, 5;Developmental and epileptic encephalopathy 43 | AD |
GABRD | 137163 | Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to;Epilepsy, juvenile myoclonic, susceptibility to;Epilepsy, idiopathic generalized, 10 | AD |
GABRG2 | 137164 | Developmental and epileptic encephalopathy 74;Epilepsy, generalized, with febrile seizures plus, type 3;Febrile seizures, familial, 8 | AD |
GAD1 | 605363 | ?Cerebral palsy, spastic quadriplegic, 1;Developmental and epileptic encephalopathy 89 | AR |
GALC | 606890 | Krabbe disease | AR |
GALNS | 612222 | Mucopolysaccharidosis IVA | AR |
GALT | 606999 | Galactosemia | AR |
GAMT | 601240 | Cerebral creatine deficiency syndrome 2 | AR |
GAN | 605379 | Giant axonal neuropathy-1 | AR |
GBA | 606463 | Lewy body dementia, susceptibility to;Gaucher disease, type IIIC;Parkinson disease, late-onset, susceptibility to;Gaucher disease, type II;Gaucher disease, type III;Gaucher disease, perinatal lethal;Gaucher disease, type I | AD, AR, AD, MF |
GBE1 | 607839 | Glycogen storage disease IV;Polyglucosan body disease, adult form | AR |
GCDH | 608801 | Glutaricaciduria, type I | AR |
GCH1 | 600225 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia;Hyperphenylalaninemia, BH4-deficient, B | AD, AR, AR |
GFAP | 137780 | Alexander disease | AD |
GFER | 600924 | Myopathy, MT progressive, with congenital cataract and developmental delay | AR |
GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
GFM2 | 606544 | Combined oxidative phosphorylation deficiency 39 | AR |
GFPT1 | 138292 | Myasthenia, congenital, 12, with tubular aggregates | AR |
GJA1 | 121014 | Oculodentodigital dysplasia, AR;Atrioventricular septal defect 3;Syndactyly, type III;Craniometaphyseal dysplasia, AR;Palmoplantar keratoderma with congenital alopecia;Oculodentodigital dysplasia;Hypoplastic left heart syndrome 1;Erythrokeratodermia variabilis et progressiva 3 | AR, AD |
GJB1 | 304040 | Charcot-Marie-Tooth neuropathy, XLD, 1 | XLD |
GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2;Spastic paraplegia 44, AR;Lymphatic malformation 3 | AR, AD |
GLA | 300644 | Fabry disease;Fabry disease, cardiac variant | XL |
GLB1 | 611458 | GM1-gangliosidosis, type II;GM1-gangliosidosis, type I;Mucopolysaccharidosis type IVB (Morquio);GM1-gangliosidosis, type III | AR |
GLDC | 238300 | Glycine encephalopathy | AR |
GLUD1 | 138130 | Hyperinsulinism-hyperammonemia syndrome | AD |
GLUL | 138290 | Glutamine deficiency, congenital | AR |
GM2A | 613109 | GM2-gangliosidosis, AB variant | AR |
GMPPA | 615495 | Alacrima, achalasia, and mental retardation syndrome | AR |
GNAO1 | 139311 | Developmental and epileptic encephalopathy 17;Neurodevelopmental disorder with involuntary movements | AD |
GNAQ | 600998 | Capillary malformations, congenital, 1, somatic, mosaic;Sturge-Weber syndrome, somatic, mosaic | |
GNB5 | 604447 | Intellectual developmental disorder with cardiac arrhythmia;Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia | AR |
GNE | 603824 | Nonaka myopathy;Sialuria | AR, AD |
GNPAT | 602744 | Rhizomelic chondrodysplasia punctata, type 2 | AR |
GNPTAB | 607840 | Mucolipidosis III alpha/beta;Mucolipidosis II alpha/beta | AR |
GNPTG | 607838 | Mucolipidosis III gamma | AR |
GNS | 607664 | Mucopolysaccharidosis type IIID | AR |
GOSR2 | 604027 | Epilepsy, progressive myoclonic 6 | AR |
GOT2 | 138150 | Epileptic encephalopathy, early infantile, 82 | AR |
GPAA1 | 603048 | Glycosylphosphatidylinositol biosynthesis defect 15 | AR |
GPC3 | 300037 | Simpson-Golabi-Behmel syndrome, type 1;Wilms tumor, somatic | XLR |
GRIA2 | 138247 | Neurodevelopmental disorder with language impairment and behavioral abnormalities | AD |
GRIN1 | 138249 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, AR;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, AD | AR, AD |
GRIN2A | 138253 | Epilepsy, focal, with speech disorder and with or without mental retardation | AD |
GRIN2B | 138252 | Mental retardation, AD 6;Developmental and epileptic encephalopathy 27 | AD |
GRIN2D | 602717 | Developmental and epileptic encephalopathy 46 | AD |
GRN | 138945 | Ceroid lipofuscinosis, neuronal, 11;Frontotemporal lobar degeneration with ubiquitin-positive inclusions;Aphasia, primary progressive | AR, AD |
GTPBP2 | 607434 | Jaberi-Elahi syndrome | AR |
GTPBP3 | 608536 | Combined oxidative phosphorylation deficiency 23 | AR |
GUF1 | 617064 | ?Developmental and epileptic encephalopathy 40 | AR |
GUSB | 611499 | Mucopolysaccharidosis VII | AR |
HACE1 | 610876 | Spastic paraplegia and psychomotor retardation with or without seizures | AR |
HADHA | 600890 | HELLP syndrome, maternal, of pregnancy;LCHAD deficiency;Fatty liver, acute, of pregnancy;MT trifunctional protein deficiency | AR |
HADHB | 143450 | Trifunctional protein deficiency | AR |
HCFC1 | 300019 | Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) | XLR |
HCN1 | 602780 | Generalized epilepsy with febrile seizures plus, type 10;Developmental and epileptic encephalopathy 24 | AD |
HEPACAM | 611642 | Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation;Megalencephalic leukoencephalopathy with subcortical cysts 2A | AD, AR |
HEXA | 606869 | Tay-Sachs disease;[Hex A pseudodeficiency];GM2-gangliosidosis, several forms | AR |
HEXB | 606873 | Sandhoff disease, infantile, juvenile, and adult forms | AR |
HGSNAT | 610453 | Mucopolysaccharidosis type IIIC (Sanfilippo C);Retinitis pigmentosa 73 | AR |
HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
HIKESHI | 614908 | Leukodystrophy, hypomyelinating, 13 | AR |
HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
HMGCS2 | 600234 | HMG-CoA synthase-2 deficiency | AR |
HNRNPR | 607201 | ||
HNRNPU | 602869 | Developmental and epileptic encephalopathy 54 | AD |
HRAS | 190020 | Thyroid carcinoma, follicular, somatic;Spitz nevus or nevus spilus, somatic;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Bladder cancer, somatic;Costello syndrome;Nevus sebaceous or woolly hair nevus, somatic;Congenital myopathy with excess of muscle spindles | AD |
HSD17B4 | 601860 | Perrault syndrome 1;D-bifunctional protein deficiency | AR |
HSPD1 | 118190 | Leukodystrophy, hypomyelinating, 4;Spastic paraplegia 13, AD | AR, AD |
HTRA1 | 602194 | Macular degeneration, age-related, 7;CARASIL syndrome;Cerebral arteriopathy, AD, with subcortical infarcts and leukoencephalopathy, type 2;Macular degeneration, age-related, neovascular type | AR, AD |
IARS2 | 612801 | ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | AR |
IBA57 | 615316 | ?Spastic paraplegia 74, AR;Multiple MT dysfunctions syndrome 3 | AR |
IDS | 300823 | Mucopolysaccharidosis II | XLR |
IDUA | 252800 | Mucopolysaccharidosis Is;Mucopolysaccharidosis Ih/s;Mucopolysaccharidosis Ih | AR |
IER3IP1 | 609382 | Microcephaly, epilepsy, and diabetes syndrome | AR |
IFIH1 | 606951 | Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1 | AD |
IQSEC2 | 300522 | Mental retardation, X-linked 1/78 | XLD |
ISCA2 | 615317 | Multiple MT dysfunctions syndrome 4 | AR |
ITPA | 147520 | Developmental and epileptic encephalopathy 35;[Inosine triphosphatase deficiency] | AR |
IVD | 607036 | Isovaleric acidemia | AR |
JAG1 | 601920 | Alagille syndrome 1;Charcot-Marie-Tooth disease, axonal, type 2HH;?Deafness, congenital heart defects, and posterior embryotoxon;Tetralogy of Fallot | AD |
JAM3 | 606871 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | AR |
KAT8 | 609912 | Li-Ghorgani-Weisz-Hubshman syndrome | AD |
KCNA1 | 176260 | Episodic ataxia/myokymia syndrome | AD |
KCNA2 | 176262 | Developmental and epileptic encephalopathy 32 | AD |
KCNB1 | 600397 | Developmental and epileptic encephalopathy 26 | AD |
KCNC1 | 176258 | Epilepsy, progressive myoclonic 7 | AD |
KCNH1 | 603305 | Zimmermann-Laband syndrome 1;Temple-Baraitser syndrome | AD |
KCNJ10 | 602208 | Enlarged vestibular aqueduct, digenic;SESAME syndrome | AR |
KCNK4 | 605720 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | AD |
KCNMA1 | 600150 | Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy;Epilepsy, idiopathic generalized, susceptibility to, 16;Liang-Wang syndrome;Cerebellar atrophy, developmental delay, and seizures | AD, AR |
KCNQ2 | 602235 | Seizures, benign neonatal, 1;Developmental and epileptic encephalopathy 7;Myokymia | AD |
KCNQ3 | 602232 | Seizures, benign neonatal, 2 | AD |
KCNT1 | 608167 | Developmental and epileptic encephalopathy 14;Epilepsy nocturnal frontal lobe, 5 | AD |
KCNT2 | 610044 | ?Developmental and epileptic encephalopathy 57 | AD |
KCTD3 | 613272 | ||
KCTD7 | 611725 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | AR |
KIAA1109 | 611565 | Alkuraya-Kucinskas syndrome | AR |
KIF2A | 602591 | Cortical dysplasia, complex, with other brain malformations 3 | AD |
KIF5A | 602821 | Amyotrophic lateral sclerosis, susceptibility to, 25;Myoclonus, intractable, neonatal;Spastic paraplegia 10, AD | AD |
KMT2E | 608444 | O'Donnell-Luria-Rodan syndrome | AD |
L2HGDH | 609584 | L-2-hydroxyglutaric aciduria | AR |
LAMA2 | 156225 | Muscular dystrophy, congenital, merosin deficient or partially deficient;Muscular dystrophy, limb-girdle, autosomal recessive 23 | AR |
LAMB1 | 150240 | Lissencephaly 5 | AR |
LAMP2 | 309060 | Danon disease | XLD |
LARGE1 | 603590 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 | AR |
LAT | 602354 | Immunodeficiency 52 | AR |
LDB3 | 605906 | Cardiomyopathy, hypertrophic, 24;Myopathy, myofibrillar, 4;Cardiomyopathy, dilated, 1C, with or without LVNC;Left ventricular noncompaction 3 | AD |
LGI1 | 604619 | Epilepsy, familial temporal lobe, 1 | AD |
LIAS | 607031 | Hyperglycinemia, lactic acidosis, and seizures | AR |
LIPA | 613497 | Wolman disease;Cholesteryl ester storage disease | AR |
LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
LMNB1 | 150340 | Leukodystrophy, adult-onset, AD;Microcephaly 26, primary, AD | AD |
LRPPRC | 607544 | MT complex IV deficiency, nuclear type 5, (French-Canadian) | AR |
LYRM7 | 615831 | MT complex III deficiency, nuclear type 8 | AR |
LYST | 606897 | Chediak-Higashi syndrome | AR |
MAF | 177075 | Ayme-Gripp syndrome;Cataract 21, multiple types | AD |
MAGT1 | 300715 | Congenital disorder of glycosylation, type Icc;Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia | XLR |
MAN1B1 | 604346 | Rafiq syndrome | AR |
MAN2B1 | 609458 | Mannosidosis, alpha-, types I and II | AR |
MANBA | 609489 | Mannosidosis, beta | AR |
MAP2K1 | 176872 | Cardiofaciocutaneous syndrome 3;Melorheostosis, isolated, somatic mosaic | AD |
MAP2K2 | 601263 | Cardiofaciocutaneous syndrome 4 | AD |
MARS2 | 609728 | Spastic ataxia 3, AR;?Combined oxidative phosphorylation deficiency 25 | AR |
MBD5 | 611472 | Mental retardation, AD 1 | AD |
MCCC1 | 609010 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
MCCC2 | 609014 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | AR |
MCOLN1 | 605248 | Mucolipidosis IV | AR |
MDH2 | 154100 | Developmental and epileptic encephalopathy 51 | AR |
MECP2 | 300005 | Rett syndrome, preserved speech variant;Encephalopathy, neonatal severe;Mental retardation, X-linked, syndromic 13;Rett syndrome;Mental retardation, X-linked syndromic, Lubs type;Rett syndrome, atypical;Autism susceptibility, X-linked 3 | XLD, XLR, XL |
MECR | 608205 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | AR |
MED17 | 603810 | Microcephaly, postnatal progressive, with seizures and brain atrophy | AR |
MEF2C | 600662 | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations;Chromosome 5q14.3 deletion syndrome | AD |
MFF | 614785 | Encephalopathy due to defective MT and peroxisomal fission 2 | AR |
MFN2 | 608507 | Hereditary motor and sensory neuropathy VIA;Charcot-Marie-Tooth disease, axonal, type 2A2B;Charcot-Marie-Tooth disease, axonal, type 2A2A | AD, AR |
MFSD8 | 611124 | Ceroid lipofuscinosis, neuronal, 7;Macular dystrophy with central cone involvement | AR |
MGAT2 | 602616 | Congenital disorder of glycosylation, type IIa | AR |
MGME1 | 615076 | MT DNA depletion syndrome 11 | AR |
MLC1 | 605908 | Megalencephalic leukoencephalopathy with subcortical cysts | AR |
MLPH | 606526 | Griscelli syndrome, type 3 | AR |
MMAA | 607481 | Methylmalonic aciduria, vitamin B12-responsive | AR |
MMAB | 607568 | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type | AR |
MMACHC | 609831 | Methylmalonic aciduria and homocystinuria, cblC type | AR |
MMADHC | 611935 | Methylmalonic aciduria and homocystinuria, cblD type;Methylmalonic aciduria, cblD type, variant 2;Homocystinuria, cblD type, variant 1 | AR |
MMUT | 609058 | Methylmalonic aciduria, mut(0) type | AR |
MOCS1 | 603707 | Molybdenum cofactor deficiency A | AR |
MOCS2 | 603708 | Molybdenum cofactor deficiency B | AR |
MOGS | 601336 | Congenital disorder of glycosylation, type IIb | AR |
MPDU1 | 604041 | Congenital disorder of glycosylation, type If | AR |
MPI | 154550 | Congenital disorder of glycosylation, type Ib | AR |
MPV17 | 137960 | Charcot-Marie-Tooth disease, axonal, type 2EE;MT DNA depletion syndrome 6 (hepatocerebral type) | AR |
MRPS22 | 605810 | Ovarian dysgenesis 7;Combined oxidative phosphorylation deficiency 5 | AR |
MT-ATP6 | |||
MT-ATP8 | |||
MT-CO1 | |||
MT-CO2 | |||
MT-CO3 | |||
MT-CYB | |||
MT-ND1 | |||
MT-ND2 | |||
MT-ND3 | |||
MT-ND4 | |||
MT-ND4L | |||
MT-ND5 | |||
MT-ND6 | |||
MT-RNR1 | |||
MT-RNR2 | |||
MT-TA | |||
MT-TC | |||
MT-TD | |||
MT-TE | |||
MT-TF | |||
MT-TG | |||
MT-TH | |||
MT-TI | |||
MT-TK | |||
MT-TL1 | |||
MT-TL2 | |||
MT-TM | |||
MT-TN | |||
MT-TP | |||
MT-TQ | |||
MT-TR | |||
MT-TS1 | |||
MT-TS2 | |||
MT-TT | |||
MT-TV | |||
MT-TW | |||
MT-TY | |||
MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15;MT complex I deficiency, nuclear type 27 | AR |
MTHFR | 607093 | Neural tube defects, susceptibility to;Homocystinuria due to MTHFR deficiency;Schizophrenia, susceptibility to;Thromboembolism, susceptibility to | AR, AD |
MTHFS | 604197 | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | AR |
MTOR | 601231 | Focal cortical dysplasia, type II, somatic;Smith-Kingsmore syndrome | AD |
MTR | 156570 | Neural tube defects, folate-sensitive, susceptibility to;Homocystinuria-megaloblastic anemia, cblG complementation type | AR |
MTRFR | 613541 | Spastic paraplegia 55, AR;Combined oxidative phosphorylation deficiency 7 | AR |
MYO5A | 160777 | Griscelli syndrome, type 1 | AR |
MYOT | 604103 | Myopathy, myofibrillar, 3;Myopathy, spheroid body | AD |
NAGA | 104170 | Schindler disease, type III;Kanzaki disease;Schindler disease, type I | AR |
NAGLU | 609701 | ?Charcot-Marie-Tooth disease, axonal, type 2V;Mucopolysaccharidosis type IIIB (Sanfilippo B) | AD, AR |
NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
NARS2 | 612803 | ?Deafness, autosomal recessive 94;Combined oxidative phosphorylation deficiency 24 | AR |
NAXD | 615910 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | AR |
NAXE | 608862 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | AR |
NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly;Infantile liver failure syndrome 2 | AR |
NDE1 | 609449 | Lissencephaly 4 (with microcephaly);?Microhydranencephaly | AR |
NDUFA1 | 300078 | MT complex I deficiency, nuclear type 12 | XLR |
NDUFA10 | 603835 | MT complex I deficiency, nuclear type 22 | AR |
NDUFA11 | 612638 | MT complex I deficiency, nuclear type 14 | AR |
NDUFA12 | 614530 | ?MT complex I deficiency, nuclear type 23 | AR |
NDUFA2 | 602137 | MT complex I deficiency, nuclear type 13 | AR |
NDUFA9 | 603834 | MT complex I deficiency, nuclear type 26 | AR |
NDUFAF1 | 606934 | MT complex I deficiency, nuclear type 11 | AR |
NDUFAF2 | 609653 | MT complex I deficiency, nuclear type 10 | AR |
NDUFAF3 | 612911 | MT complex I deficiency, nuclear type 18 | AR |
NDUFAF4 | 611776 | MT complex I deficiency, nuclear type 15 | AR |
NDUFAF5 | 612360 | MT complex I deficiency, nuclear type 16 | AR |
NDUFAF6 | 612392 | MT complex I deficiency, nuclear type 17;Fanconi renotubular syndrome 5 | AR |
NDUFB3 | 603839 | MT complex I deficiency, nuclear type 25 | AR |
NDUFS1 | 157655 | MT complex I deficiency, nuclear type 5 | AR |
NDUFS2 | 602985 | MT complex I deficiency, nuclear type 6 | AR |
NDUFS3 | 603846 | MT complex I deficiency, nuclear type 8 | AR |
NDUFS4 | 602694 | MT complex I deficiency, nuclear type 1 | AR |
NDUFS6 | 603848 | MT complex I deficiency, nuclear type 9 | AR |
NDUFS7 | 601825 | MT complex I deficiency, nuclear type 3 | AR |
NDUFS8 | 602141 | MT complex I deficiency, nuclear type 2 | AR |
NDUFV1 | 161015 | MT complex I deficiency, nuclear type 4 | AR |
NDUFV2 | 600532 | MT complex I deficiency, nuclear type 7 | AR |
NECAP1 | 611623 | Developmental and epileptic encephalopathy 21 | AR |
NEDD4L | 606384 | Periventricular nodular heterotopia 7 | AD |
NEU1 | 608272 | Sialidosis, type I;Sialidosis, type II | AR |
NEUROD2 | 601725 | Developmental and epileptic encephalopathy 72 | AD |
NEXMIF | 300524 | Mental retardation, X-linked 98 | XLD |
NF1 | 613113 | Watson syndrome;Leukemia, juvenile myelomonocytic;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome | AD, AD, SM |
NFE2L2 | 600492 | Immunodeficiency, developmental delay, and hypohomocysteinemia | AD |
NFU1 | 608100 | Multiple MT dysfunctions syndrome 1 | AR |
NGLY1 | 610661 | Congenital disorder of deglycosylation | AR |
NHLRC1 | 608072 | Epilepsy, progressive myoclonic 2B (Lafora) | AR |
NOTCH1 | 190198 | Adams-Oliver syndrome 5;Aortic valve disease 1 | AD |
NOTCH3 | 600276 | ?Myofibromatosis, infantile 2;Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1;Lateral meningocele syndrome | AD |
NPC1 | 607623 | Niemann-Pick disease, type C1;Niemann-Pick disease, type D | AR |
NPC2 | 601015 | Niemann-pick disease, type C2 | AR |
NPR2 | 108961 | Acromesomelic dysplasia, Maroteaux type;Short stature with nonspecific skeletal abnormalities;Epiphyseal chondrodysplasia, Miura type | AR, AD |
NPRL2 | 607072 | Epilepsy, familial focal, with variable foci 2 | AD |
NPRL3 | 600928 | Epilepsy, familial focal, with variable foci 3 | AD |
NRXN1 | 600565 | Schizophrenia, susceptibility to, 17;Pitt-Hopkins-like syndrome 2 | AR |
NSD2 | 602952 | Rauch-Steindl syndrome | AD |
NUBPL | 613621 | MT complex I deficiency, nuclear type 21 | AR |
NUS1 | 610463 | ?Congenital disorder of glycosylation, type 1aa;Mental retardation, AD 55, with seizures | AR, AD |
OAT | 613349 | Gyrate atrophy of choroid and retina with or without ornithinemia | AR |
OCLN | 602876 | Pseudo-TORCH syndrome 1 | AR |
OCRL | 300535 | Lowe syndrome;Dent disease 2 | XLR |
OPA1 | 605290 | Optic atrophy 1;?MT DNA depletion syndrome 14 (encephalocardiomyopathic type);Glaucoma, normal tension, susceptibility to;Optic atrophy plus syndrome;Behr syndrome | AD, AR |
OPA3 | 606580 | 3-methylglutaconic aciduria, type III;Optic atrophy 3 with cataract | AR, AD |
OSGEP | 610107 | Galloway-Mowat syndrome 3 | AR |
OTC | 300461 | Ornithine transcarbamylase deficiency | XL |
OTUD6B | 612021 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | AR |
P4HTM | 614584 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | AR |
PACS2 | 610423 | Developmental and epileptic encephalopathy 66 | AD |
PAFAH1B1 | 601545 | Subcortical laminar heterotopia;Lissencephaly 1 | AD |
PAH | 612349 | Phenylketonuria;[Hyperphenylalaninemia, non-PKU mild] | AR |
PAK1 | 602590 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | AD |
PANK2 | 606157 | HARP syndrome;Neurodegeneration with brain iron accumulation 1 | AR |
PARS2 | 612036 | Developmental and epileptic encephalopathy 75 | AR |
PC | 608786 | Pyruvate carboxylase deficiency | AR |
PCCA | 232000 | Propionicacidemia | AR |
PCCB | 232050 | Propionicacidemia | AR |
PCDH12 | 605622 | Diencephalic-mesencephalic junction dysplasia syndrome 1 | AR |
PCDH19 | 300460 | Developmental and epileptic encephalopathy 9 | XL |
PCYT2 | 602679 | Spastic paraplegia 82, AR | AR |
PDHA1 | 300502 | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | AR |
PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
PDP1 | 605993 | Pyruvate dehydrogenase phosphatase deficiency | AR |
PDSS1 | 607429 | Coenzyme Q10 deficiency, primary, 2 | AR |
PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
PDYN | 131340 | Spinocerebellar ataxia 23 | AD |
PET100 | 614770 | MT complex IV deficiency, nuclear type 12 | AR |
PEX1 | 602136 | Peroxisome biogenesis disorder 1A (Zellweger);Peroxisome biogenesis disorder 1B (NALD/IRD);Heimler syndrome 1 | AR |
PEX10 | 602859 | Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B | AR |
PEX11B | 603867 | Peroxisome biogenesis disorder 14B | AR |
PEX12 | 601758 | Peroxisome biogenesis disorder 3B;Peroxisome biogenesis disorder 3A (Zellweger) | AR |
PEX13 | 601789 | Peroxisome biogenesis disorder 11B;Peroxisome biogenesis disorder 11A (Zellweger) | AR |
PEX14 | 601791 | Peroxisome biogenesis disorder 13A (Zellweger) | AR |
PEX16 | 603360 | Peroxisome biogenesis disorder 8A (Zellweger);Peroxisome biogenesis disorder 8B | AR |
PEX19 | 600279 | Peroxisome biogenesis disorder 12A (Zellweger) | AR |
PEX2 | 170993 | Peroxisome biogenesis disorder 5B;Peroxisome biogenesis disorder 5A (Zellweger) | AR |
PEX26 | 608666 | Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B | AR |
PEX3 | 603164 | Peroxisome biogenesis disorder 10A (Zellweger);?Peroxisome biogenesis disorder 10B | AR |
PEX5 | 600414 | Rhizomelic chondrodysplasia punctata, type 5;Peroxisome biogenesis disorder 2B;Peroxisome biogenesis disorder 2A (Zellweger) | AR |
PEX6 | 601498 | Peroxisome biogenesis disorder 4B;Peroxisome biogenesis disorder 4A (Zellweger);Heimler syndrome 2 | AD, AR, AR |
PEX7 | 601757 | Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata, type 1 | AR |
PGAP1 | 611655 | Mental retardation, autosomal recessive 42 | AR |
PGK1 | 311800 | Phosphoglycerate kinase 1 deficiency | XLR |
PGM1 | 171900 | Congenital disorder of glycosylation, type It | AR |
PHACTR1 | 608723 | Developmental and epileptic encephalopathy 70 | AD |
PHGDH | 606879 | Phosphoglycerate dehydrogenase deficiency;Neu-Laxova syndrome 1 | AR |
PHYH | 602026 | Refsum disease | AR |
PIGA | 311770 | Paroxysmal nocturnal hemoglobinuria, somatic;Multiple congenital anomalies-hypotonia-seizures syndrome 2 | XLR |
PIGB | 604122 | Developmental and epileptic encephalopathy 80 | AR |
PIGH | 600154 | Glycosylphosphatidylinositol biosynthesis defect 17 | AR |
PIGO | 614730 | Hyperphosphatasia with mental retardation syndrome 2 | AR |
PIGP | 605938 | Developmental and epileptic encephalopathy 55 | AR |
PIGQ | 605754 | Developmental and epileptic encephalopathy 77 | AR |
PIGS | 610271 | Glycosylphosphatidylinositol biosynthesis defect 18 | AR |
PIGT | 610272 | Multiple congenital anomalies-hypotonia-seizures syndrome 3;?Paroxysmal nocturnal hemoglobinuria 2 | AR, AD, SM |
PIGU | 608528 | Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis | AR |
PIGV | 610274 | Hyperphosphatasia with mental retardation syndrome 1 | AR |
PIGW | 610275 | Glycosylphosphatidylinositol biosynthesis defect 11 | AR |
PLA2G6 | 603604 | Neurodegeneration with brain iron accumulation 2B;Parkinson disease 14, AR;Infantile neuroaxonal dystrophy 1 | AR |
PLAA | 603873 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | AR |
PLCB1 | 607120 | Developmental and epileptic encephalopathy 12 | AR |
PLCG2 | 600220 | Familial cold autoinflammatory syndrome 3;Autoinflammation, antibody deficiency, and immune dysregulation syndrome | AD |
PLEKHG2 | 611893 | Leukodystrophy and acquired microcephaly with or without dystonia | AR |
PLK1 | 602098 | ||
PLP1 | 300401 | Pelizaeus-Merzbacher disease;Spastic paraplegia 2, XL | XLR |
PMM2 | 601785 | Congenital disorder of glycosylation, type Ia | AR |
PMP22 | 601097 | Neuropathy, recurrent, with pressure palsies;Dejerine-Sottas disease;Roussy-Levy syndrome;?Neuropathy, inflammatory demyelinating;Charcot-Marie-Tooth disease, type 1E;Charcot-Marie-Tooth disease, type 1A | AD, AD, AR, ?AD |
PMPCB | 603131 | Multiple MT dysfunctions syndrome 6 | AR |
PNKP | 605610 | Ataxia-oculomotor apraxia 4;Microcephaly, seizures, and developmental delay;?Charcot-Marie-Tooth disease, type 2B2 | AR |
PNPO | 603287 | Pyridoxamine 5'-phosphate oxidase deficiency | AR |
PNPT1 | 610316 | Deafness, autosomal recessive 70;Combined oxidative phosphorylation deficiency 13 | AR |
POLG | 174763 | Progressive external ophthalmoplegia, autosomal recessive 1;Progressive external ophthalmoplegia, AD 1;MT recessive ataxia syndrome (includes SANDO and SCAE);MT DNA depletion syndrome 4B (MNGIE type);MT DNA depletion syndrome 4A (Alpers type) | AR, AD |
POLG2 | 604983 | MT DNA depletion syndrome 16 (hepatic type);?MT DNA depletion syndrome 16B (neuroophthalmic type);Progressive external ophthalmoplegia with MT DNA deletions, AD 4 | AR, AD |
POLR1C | 610060 | Leukodystrophy, hypomyelinating, 11;Treacher Collins syndrome 3 | AR |
POLR3A | 614258 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Wiedemann-Rautenstrauch syndrome | AR |
POLR3B | 614366 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism;Charcot-Marie-Tooth disease, demyelinating, type 1I | AR, AD |
POMK | 615247 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12;?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | AR |
POMT1 | 607423 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 | AR |
PPP2CA | 176915 | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | AD |
PPP2R1A | 605983 | Mental retardation, AD 36 | AD |
PPP3CA | 114105 | Epileptic encephalopathy, infantile or early childhood, 1;Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | AD |
PPT1 | 600722 | Ceroid lipofuscinosis, neuronal, 1 | AR |
PRF1 | 170280 | Hemophagocytic lymphohistiocytosis, familial, 2;Lymphoma, non-Hodgkin;Aplastic anemia | AR |
PRICKLE1 | 608500 | Epilepsy, progressive myoclonic 1B | AR |
PRICKLE2 | 608501 | ||
PRMT7 | 610087 | Short stature, brachydactyly, intellectual developmental disability, and seizures | AR |
PRODH | 606810 | Schizophrenia, susceptibility to, 4;Hyperprolinemia, type I | AD, AR |
PRPS1 | 311850 | Charcot-Marie-Tooth disease, XLR, 5;Deafness, X-linked 1;Phosphoribosylpyrophosphate synthetase superactivity;Arts syndrome;Gout, PRPS-related | XLR, XL |
PRRT2 | 614386 | Episodic kinesigenic dyskinesia 1;Convulsions, familial infantile, with paroxysmal choreoathetosis;Seizures, benign familial infantile, 2 | AD |
PSAP | 176801 | Combined SAP deficiency;Gaucher disease, atypical;Krabbe disease, atypical;Parkinson disease 24, AD, susceptibility to;Metachromatic leukodystrophy due to SAP-b deficiency | AR, AD |
PSEN1 | 104311 | Cardiomyopathy, dilated, 1U;Pick disease;Alzheimer disease, type 3;Alzheimer disease, type 3, with spastic paraparesis and apraxia;?Acne inversa, familial, 3;Dementia, frontotemporal;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques | AD |
PTEN | 601728 | Cowden syndrome 1;Lhermitte-Duclos syndrome;Macrocephaly/autism syndrome;Glioma susceptibility 2;Meningioma;Prostate cancer, somatic | AD |
PTPN23 | 606584 | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | AR |
PTS | 612719 | Hyperphenylalaninemia, BH4-deficient, A | AR |
PUM1 | 607204 | Spinocerebellar ataxia 47 | AD |
PURA | 600473 | Mental retardation, AD 31 | AD |
PYCR2 | 616406 | Leukodystrophy, hypomyelinating, 10 | AR |
QARS1 | 603727 | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy | AR |
QDPR | 612676 | Hyperphenylalaninemia, BH4-deficient, C | AR |
RAB11A | 605570 | ||
RAB11B | 604198 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | AD |
RAB27A | 603868 | Griscelli syndrome, type 2 | AR |
RAI1 | 607642 | Smith-Magenis syndrome | AD, IC |
RALA | 179550 | Hiatt-Neu-Cooper neurodevelopmental syndrome | AD |
RALGAPA1 | 608884 | Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | AR |
RARS1 | 107820 | Leukodystrophy, hypomyelinating, 9 | AR |
RARS2 | 611524 | Pontocerebellar hypoplasia, type 6 | AR |
RELN | 600514 | Lissencephaly 2 (Norman-Roberts type);Epilepsy, familial temporal lobe, 7 | AR, AD |
RFT1 | 611908 | Congenital disorder of glycosylation, type In | AR |
RHOBTB2 | 607352 | Developmental and epileptic encephalopathy 64 | AD |
RMND1 | 614917 | Combined oxidative phosphorylation deficiency 11 | AR |
RNASEH2A | 606034 | Aicardi-Goutieres syndrome 4 | AR |
RNASEH2B | 610326 | Aicardi-Goutieres syndrome 2 | AR |
RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
RNASET2 | 612944 | Leukoencephalopathy, cystic, without megalencephaly | AR |
RNF113A | 300951 | Trichothiodystrophy 5, nonphotosensitive | XL |
RNF13 | 609247 | Developmental and epileptic encephalopathy 73 | AD |
RNF216 | 609948 | Cerebellar ataxia and hypogonadotropic hypogonadism | AR |
ROGDI | 614574 | Kohlschutter-Tonz syndrome | AR |
RORA | 600825 | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | AD |
RORB | 601972 | Epilepsy, idiopathic generalized, susceptibility to, 15 | AD |
RPIA | 180430 | Ribose 5-phosphate isomerase deficiency | AR |
RRM2B | 604712 | MT DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy);Progressive external ophthalmoplegia with MT DNA deletions, AD 5;MT DNA depletion syndrome 8B (MNGIE type) | AR, AD |