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 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.
Ataxia / Spastic paraplegia panel
Our Ataxia / Spastic paraplegia panel includes genes relevant to hereditary neurological disorders characterized by ataxia and spastic paraplegia, 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. Traditionally, ataxias and spastic paraplegia have been classified into separate categories. However, recent information shows that these diseases share genes, pathways and mechanisms and therefore our panel covers both syndromes and involves ataxia-spasticity disease spectrum. Our Ataxia / Spastic paraplegia panel is not only the best option for patients displaying gait imbalance and uncoordinated walking, but also for patients displaying spastic gait impairment, spastic weakness, and hyperreflexia or any of the combinations.
The most common forms of inherited ataxia are caused by repeat expansion mutations, therefore the compre-hensive version of our panel includes repeat expansion analysis.
No. of genes: | 483 |
---|---|
TAT: | 25 business days |
Coverage: | ≥99.00% ≥20x |
Details: |
NGS including CNV analysis
|
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8 | AR |
Leukoencephalopathy, progressive, with ovarian failure | AR | ||
ABCB7 | 300135 | Anemia, sideroblastic, with ataxia | XLR |
ABCD1 | 300371 | Adrenoleukodystrophy | XLR |
Adrenomyeloneuropathy, adult | XLR | ||
ABHD12 | 613599 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | AR |
ABHD5 | 604780 | Chanarin-Dorfman syndrome | AR |
ACAD9 | 611103 | Mitochondrial complex I deficiency, nuclear type 20 | AR |
ACADVL | 609575 | VLCAD deficiency | AR |
ACO2 | 100850 | ?Optic atrophy 9 | AR |
Infantile cerebellar-retinal degeneration | AR | ||
ADAR | 146920 | Aicardi-Goutieres syndrome 6 | AR |
Dyschromatosis symmetrica hereditaria | AD | ||
ADPRS | 610624 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | AR |
AFG3L2 | 604581 | Spinocerebellar ataxia 28 | AD |
Spastic ataxia 5, autosomal recessive | AR | ||
Optic atrophy 12 | AD | ||
AGK | 610345 | Sengers syndrome | AR |
Cataract 38, autosomal recessive | AR | ||
AGTPBP1 | 606830 | Neurodegeneration, childhood-onset, with cerebellar atrophy | AR |
AHI1 | 608894 | Joubert syndrome 3 | AR |
AIFM1 | 300169 | Cowchock syndrome | XLR |
Combined oxidative phosphorylation deficiency 6 | XLR | ||
Deafness, X-linked 5 | XLR | ||
Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy | XLR | ||
AIMP1 | 603605 | Leukodystrophy, hypomyelinating, 3 | AR |
ALAS2 | 301300 | Protoporphyria, erythropoietic, X-linked | XL |
Anemia, sideroblastic, 1 | XLR | ||
ALDH18A1 | 138250 | Cutis laxa, autosomal dominant 3 | AD |
Cutis laxa, autosomal recessive, type IIIA | AR | ||
Spastic paraplegia 9B, autosomal recessive | AR | ||
Spastic paraplegia 9A, autosomal dominant | AD | ||
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
ALS2 | 606352 | Amyotrophic lateral sclerosis 2, juvenile | AR |
Spastic paralysis, infantile onset ascending | AR | ||
Primary lateral sclerosis, juvenile | AR | ||
AMACR | 604489 | Bile acid synthesis defect, congenital, 4 | AR |
Alpha-methylacyl-CoA racemase deficiency | AR | ||
AMPD2 | 102771 | ?Spastic paraplegia 63 | AR |
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, autosomal recessive | AR |
AP4E1 | 607244 | Stuttering, familial persistent, 1 | AD |
Spastic paraplegia 51, autosomal recessive | AR | ||
AP4M1 | 602296 | Spastic paraplegia 50, autosomal recessive | AR |
AP4S1 | 607243 | Spastic paraplegia 52, autosomal recessive | AR |
AP5Z1 | 613653 | Spastic paraplegia 48, autosomal recessive | 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 | AR |
Bardet-Biedl syndrome 1, modifier of | AR, DR | ||
Bardet-Biedl syndrome 3 | AR | ||
ARL6IP1 | 607669 | ?Spastic paraplegia 61, autosomal recessive | AR |
ARSA | 607574 | Metachromatic leukodystrophy | AR |
ATCAY | 608179 | Ataxia, cerebellar, Cayman type | AR |
ATL1 | 606439 | Spastic paraplegia 3A, autosomal dominant | AD |
Neuropathy, hereditary sensory, type ID | AD | ||
ATM | 607585 | Breast cancer, susceptibility to | AD, SM |
Ataxia-telangiectasia | AR | ||
ATP13A2 | 610513 | Spastic paraplegia 78, autosomal recessive | AR |
Kufor-Rakeb syndrome | AR | ||
ATP1A2 | 182340 | Developmental and epileptic encephalopathy 98 | AD |
Alternating hemiplegia of childhood 1 | AD | ||
Migraine, familial basilar | AD | ||
Migraine, familial hemiplegic, 2 | AD | ||
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | AR | ||
ATP1A3 | 182350 | Alternating hemiplegia of childhood 2 | AD |
Dystonia-12 | AD | ||
Developmental and epileptic encephalopathy 99 | AD | ||
CAPOS syndrome | AD | ||
ATP2B3 | 300014 | ?Spinocerebellar ataxia, X-linked 1 | XLR |
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 | XLR |
Alpha-thalassemia/mental retardation syndrome | XLD | ||
Alpha-thalassemia myelodysplasia syndrome, somatic | - | ||
AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
B4GALNT1 | 601873 | Spastic paraplegia 26, autosomal recessive | AR |
B9D1 | 614144 | ?Meckel syndrome 9 | AR |
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 | AR |
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 | AR |
Bjornstad syndrome | AR | ||
Mitochondrial complex III deficiency, nuclear type 1 | AR | ||
BICD2 | 609797 | Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | AD |
Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | AD | ||
BOLA3 | 613183 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | AR |
BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2 | AR |
Encephalopathy, progressive, with or without lipodystrophy | AR | ||
Silver spastic paraplegia syndrome | AD | ||
Neuropathy, distal hereditary motor, type VC | AD | ||
BTD | 609019 | Biotinidase deficiency | AR |
C19orf12 | 614297 | Neurodegeneration with brain iron accumulation 4 | AD, AR |
?Spastic paraplegia 43, autosomal recessive | AR | ||
CA8 | 114815 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 | AR |
CACNA1A | 601011 | Episodic ataxia, type 2 | AD |
Migraine, familial hemiplegic, 1 | AD | ||
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia | AD | ||
Spinocerebellar ataxia 6 | AD | ||
Developemental and epileptic encephalopathy 42 | AD | ||
CACNA1G | 604065 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | AD |
Spinocerebellar ataxia 42 | AD | ||
CACNB4 | 601949 | Epilepsy, juvenile myoclonic, susceptibility to, 6 | AD |
Epilepsy, idiopathic generalized, susceptibility to, 9 | AD | ||
Episodic ataxia, type 5 | AD | ||
CAMTA1 | 611501 | Cerebellar ataxia, nonprogressive, with mental retardation | AD |
CAPN1 | 114220 | Spastic paraplegia 76, autosomal recessive | 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 | XLD | ||
FG syndrome 4 | - | ||
CC2D2A | 612013 | Meckel syndrome 6 | AR |
Retinitis pigmentosa 93 | AR | ||
Joubert syndrome 9 | AR | ||
COACH syndrome 2 | AR | ||
CCDC88C | 611204 | Hydrocephalus, congenital, 1 | AR |
?Spinocerebellar ataxia 40 | AD | ||
CCT5 | 610150 | Neuropathy, hereditary sensory, with spastic paraplegia | AR |
CEP290 | 610142 | Leber congenital amaurosis 10 | - |
Meckel syndrome 4 | AR | ||
?Bardet-Biedl syndrome 14 | AR | ||
Senior-Loken syndrome 6 | AR | ||
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 | AD |
Hyperaldosteronism, familial, type II | AD | ||
Epilepsy, juvenile myoclonic, susceptibility to, 8 | AD | ||
Epilepsy, idiopathic generalized, susceptibility to, 11 | AD | ||
Leukoencephalopathy with ataxia | AR | ||
CLN5 | - | Ceroid lipofuscinosis, neuronal, 5 | AR |
CLN6 | 606725 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset | AR |
Ceroid lipofuscinosis, neuronal, 6 | AR | ||
CLPB | 616254 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia | AR |
3-methylglutaconic aciduria, type VIIA, autosomal dominant | AD | ||
Neutropenia, severe congenital, 9, autosomal dominant | AD | ||
CLPP | 601119 | Perrault syndrome 3 | AR |
COA6 | 614772 | Mitochondrial complex IV deficiency, nuclear type 13 | AR |
COA7 | 615623 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | AR |
COA8 | 616003 | Mitochondrial complex IV deficiency, nuclear type 17 | AR |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6 | AR |
Pontocerebellar hypoplasia, type 12 | AR | ||
COL4A1 | 120130 | ?Retinal arteries, tortuosity of | AD |
Hemorrhage, intracerebral, susceptibility to | - | ||
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | AD | ||
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | AD | ||
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 | AR |
Multiple system atrophy, susceptibility to | 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 | Mitochondrial complex IV deficiency, nuclear type 3 | AR |
COX15 | 603646 | Mitochondrial complex IV deficiency, nuclear type 6 | AR |
COX20 | 614698 | Mitochondrial complex IV deficiency, nuclear type 11 | AR |
COX6A1 | 602072 | Charcot-Marie-Tooth disease, recessive intermediate D | AR |
COX6B1 | 124089 | Mitochondrial complex IV deficiency, nuclear type 7 | AR |
CP | 117700 | Cerebellar ataxia | AR |
Hemosiderosis, systemic, due to aceruloplasminemia | AR | ||
[Hypoceruloplasminemia, hereditary] | AR | ||
CPLANE1 | 614571 | Orofaciodigital syndrome VI | AR |
Joubert syndrome 17 | AR | ||
CPT1C | 608846 | ?Spastic paraplegia 73, autosomal dominant | 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 | Mitochondrial complex III deficiency, nuclear type 6 | AR |
CYP27A1 | 606530 | Cerebrotendinous xanthomatosis | AR |
CYP2U1 | 610670 | Spastic paraplegia 56, autosomal recessive | AR |
CYP7B1 | 603711 | Spastic paraplegia 5A, autosomal recessive | 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, autosomal recessive | AR |
DDHD2 | 615003 | Spastic paraplegia 54, autosomal recessive | AR |
DGUOK | - | Portal hypertension, noncirrhotic | AR |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | AR | ||
Mitochondrial 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 | AR |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | AD | ||
DNAJC19 | 608977 | 3-methylglutaconic aciduria, type V | AR |
DNAJC5 | 611203 | Ceroid lipofuscinosis, neuronal, 4, Parry type | AD |
DNM1L | 603850 | Optic atrophy 5 | AD |
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | AD, AR | ||
DNMT1 | 126375 | Neuropathy, hereditary sensory, type IE | AD |
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | AD | ||
DOCK3 | 603123 | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | AR |
DSTYK | 612666 | Spastic paraplegia 23 | AR |
Congenital anomalies of kidney and urinary tract 1 | AD | ||
EARS2 | 612799 | Combined oxidative phosphorylation deficiency 12 | AR |
EBF3 | 607407 | Hypotonia, ataxia, and delayed development syndrome | AD |
ECHS1 | 602292 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | AR |
EIF2B1 | 606686 | Leukoencephalopathy with vanishing white matter | AR |
EIF2B2 | 606454 | Ovarioleukodystrophy | AR |
Leukoencephalopathy with vanishing white matter | AR | ||
EIF2B3 | 606273 | Leukoencephalopathy with vanishing white matter | AR |
EIF2B4 | 606687 | Ovarioleukodystrophy | AR |
Leukoencephalopathy with vanishing white matter | AR | ||
EIF2B5 | 603945 | Ovarioleukodystrophy | AR |
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 | AR |
Stargardt disease 3 | AD | ||
Spinocerebellar ataxia 34 | AD | ||
ELOVL5 | 611805 | Spinocerebellar ataxia 38 | AD |
ENTPD1 | 601752 | Spastic paraplegia 64, autosomal recessive | AR |
ERLIN1 | 611604 | Spastic paraplegia 62 | AR |
ERLIN2 | 611605 | Spastic paraplegia 18, autosomal recessive | AR |
ETFA | - | 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, autosomal recessive | AR |
FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14 | AR |
Spastic paraplegia 77, autosomal recessive | AR | ||
FASTKD2 | 612322 | Combined oxidative phosphorylation deficiency 44 | AR |
FAT2 | 604269 | Spinocerebellar ataxia 45 | AD |
FBXL4 | 605654 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | AR |
FDX2 | 614585 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | AR |
FDXR | 103270 | Auditory neuropathy and optic atrophy | AR |
FGF14 | - | Spinocerebellar ataxia 27 | AD |
Spinocerebellar ataxia 27 | - | ||
Spinocerebellar ataxia 27B, late-onset | - | ||
FH | 136850 | Fumarase deficiency | AR |
Leiomyomatosis and renal cell cancer | 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 | Mitochondrial complex I deficiency, nuclear type 19 | AR |
FTL | 134790 | Neurodegeneration with brain iron accumulation 3 | AD |
Hyperferritinemia-cataract syndrome | AD | ||
L-ferritin deficiency, dominant and recessive | AD, AR | ||
FXN | 606829 | Friedreich ataxia | AR |
Friedreich ataxia with retained reflexes | AR | ||
GAD1 | 605363 | ?Cerebral palsy, spastic quadriplegic, 1 | AR |
Developmental and epileptic encephalopathy 89 | AR | ||
GALC | 606890 | Krabbe disease | AR |
GARS1 | 600287 | Spinal muscular atrophy, infantile, James type | AD |
Charcot-Marie-Tooth disease, type 2D | AD | ||
Neuronopathy, distal hereditary motor, type VA | AD | ||
GBA | 606463 | Lewy body dementia, susceptibility to | AD |
Gaucher disease, type IIIC | AR | ||
Parkinson disease, late-onset, susceptibility to | AD, MF | ||
Gaucher disease, type II | AR | ||
Gaucher disease, type III | AR | ||
Gaucher disease, perinatal lethal | AR | ||
Gaucher disease, type I | AR | ||
GBA2 | 609471 | Spastic paraplegia 46, autosomal recessive | AR |
GCDH | 608801 | Glutaricaciduria, type I | AR |
GCH1 | 600225 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | AD, AR |
Hyperphenylalaninemia, BH4-deficient, B | AR | ||
GFAP | 137780 | Alexander disease | AD |
GFER | 600924 | Myopathy, mitochondrial 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, X-linked dominant, 1 | XLD |
GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2 | AR |
Spastic paraplegia 44, autosomal recessive | AR | ||
Lymphatic malformation 3 | AD | ||
GLRX5 | 609588 | Spasticity, childhood-onset, with hyperglycinemia | AR |
Anemia, sideroblastic, 3, pyridoxine-refractory | AR | ||
GOSR2 | 604027 | Epilepsy, progressive myoclonic 6 | AR |
Muscular dystrophy, congenital, with or without seizures | - | ||
GRID2 | 602368 | Spinocerebellar ataxia, autosomal recessive 18 | AR |
GRM1 | 604473 | Spinocerebellar ataxia 44 | AD |
Spinocerebellar ataxia, autosomal recessive 13 | AR | ||
GSS | 601002 | Glutathione synthetase deficiency | AR |
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 | AD |
Megalencephalic leukoencephalopathy with subcortical cysts 2A | AR | ||
HEXA | 606869 | Tay-Sachs disease | AR |
[Hex A pseudodeficiency] | AR | ||
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 | AR |
Spastic paraplegia 13, autosomal dominant | 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, autosomal recessive | AR |
Multiple mitochondrial dysfunctions syndrome 3 | AR | ||
INPP5E | 613037 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
Joubert syndrome 1 | AR | ||
IRF2BPL | 611720 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | AD |
ISCA2 | 615317 | Multiple mitochondrial dysfunctions syndrome 4 | AR |
ISCU | 611911 | Myopathy with lactic acidosis, hereditary | AR |
ITM2B | 603904 | Dementia, familial British | AD |
?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities | AD | ||
Dementia, familial Danish | AD | ||
ITPR1 | 147265 | Spinocerebellar ataxia 15 | AD |
Spinocerebellar ataxia 29, congenital nonprogressive | AD | ||
Gillespie syndrome | 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 | AD |
Spinocerebellar ataxia 19 | AD | ||
KCNJ10 | 602208 | Enlarged vestibular aqueduct, digenic | AR |
SESAME syndrome | AR | ||
KDM5C | 314690 | Mental retardation, X-linked, syndromic, Claes-Jensen type | XLR |
KIDINS220 | 615759 | Ventriculomegaly and arthrogryposis | AR |
Spastic paraplegia, intellectual disability, nystagmus, and obesity | AD | ||
KIF1A | 601255 | NESCAV syndrome | AD |
Spastic paraplegia 30, autosomal recessive | AD, AR | ||
Neuropathy, hereditary sensory, type IIC | AR | ||
Spastic paraplegia 30, autosomal dominant | AD, AR | ||
KIF1C | 603060 | Spastic ataxia 2, autosomal recessive | AR |
KIF5A | 602821 | Amyotrophic lateral sclerosis, susceptibility to, 25 | AD |
Myoclonus, intractable, neonatal | AD | ||
Spastic paraplegia 10, autosomal dominant | AD | ||
KIF7 | 611254 | Joubert syndrome 12 | AR |
?Hydrolethalus syndrome 2 | AR | ||
?Al-Gazali-Bakalinova syndrome | AR | ||
Acrocallosal syndrome | AR | ||
L1CAM | 308840 | Hydrocephalus with congenital idiopathic intestinal pseudoobstruction | XLR |
CRASH syndrome | XLR | ||
Corpus callosum, partial agenesis of | XLR | ||
Hydrocephalus with Hirschsprung disease | XLR | ||
MASA syndrome | XLR | ||
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 | AR |
Perrault syndrome 4 | AR | ||
LIAS | 607031 | Hyperglycinemia, lactic acidosis, and seizures | AR |
LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
LMNB1 | 150340 | Leukodystrophy, adult-onset, autosomal dominant | AD |
Microcephaly 26, primary, autosomal dominant | AD | ||
LRPPRC | 607544 | Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) | AR |
LYRM7 | 615831 | Mitochondrial complex III deficiency, nuclear type 8 | AR |
LYST | 606897 | Chediak-Higashi syndrome | AR |
MAG | 159460 | Spastic paraplegia 75, autosomal recessive | AR |
MARS1 | 156560 | Charcot-Marie-Tooth disease, axonal, type 2U | AD |
?Trichothiodystrophy 9, nonphotosensitive | AR | ||
Interstitial lung and liver disease | AR | ||
MARS2 | 609728 | Spastic ataxia 3, autosomal recessive | 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 mitochondrial and peroxisomal fission 2 | AR |
MFN2 | 608507 | Hereditary motor and sensory neuropathy VIA | AD |
Charcot-Marie-Tooth disease, axonal, type 2A2B | AR | ||
Charcot-Marie-Tooth disease, axonal, type 2A2A | AD | ||
MGME1 | 615076 | Mitochondrial DNA depletion syndrome 11 | AR |
MICU1 | 605084 | Myopathy with extrapyramidal signs | AR |
MKKS | 604896 | McKusick-Kaufman syndrome | AR |
Bardet-Biedl syndrome 6 | AR | ||
MKS1 | 609883 | Bardet-Biedl syndrome 13 | AR |
Joubert syndrome 28 | AR | ||
Meckel syndrome 1 | AR | ||
MLC1 | 605908 | Megalencephalic leukoencephalopathy with subcortical cysts | AR |
MOCS1 | 603707 | Molybdenum cofactor deficiency A | AR |
MPC1 | 614738 | Mitochondrial pyruvate carrier deficiency | AR |
MPV17 | 137960 | Charcot-Marie-Tooth disease, axonal, type 2EE | AR |
Mitochondrial 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 | AR |
Combined oxidative phosphorylation deficiency 5 | AR | ||
MSTO1 | 617619 | Myopathy, mitochondrial, and ataxia | AD, AR |
MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15 | AR |
Mitochondrial complex I deficiency, nuclear type 27 | AR | ||
MTO1 | 614667 | Combined oxidative phosphorylation deficiency 10 | AR |
MTPAP | 613669 | ?Spastic ataxia 4, autosomal recessive | AR |
MTRFR | 613541 | Spastic paraplegia 55, autosomal recessive | AR |
Combined oxidative phosphorylation deficiency 7 | AR | ||
MTTP | 157147 | Metabolic syndrome, protection against | AD |
Abetalipoproteinemia | AR | ||
NARS2 | 612803 | ?Deafness, autosomal recessive 94 | AR |
Combined oxidative phosphorylation deficiency 24 | AR | ||
NDUFA1 | 300078 | Mitochondrial complex I deficiency, nuclear type 12 | XLR |
NDUFA10 | 603835 | Mitochondrial complex I deficiency, nuclear type 22 | AR |
NDUFA11 | 612638 | Mitochondrial complex I deficiency, nuclear type 14 | AR |
NDUFA12 | 614530 | ?Mitochondrial complex I deficiency, nuclear type 23 | AR |
NDUFA2 | 602137 | Mitochondrial complex I deficiency, nuclear type 13 | AR |
NDUFA9 | 603834 | Mitochondrial complex I deficiency, nuclear type 26 | AR |
NDUFAF1 | 606934 | Mitochondrial complex I deficiency, nuclear type 11 | AR |
NDUFAF2 | 609653 | Mitochondrial complex I deficiency, nuclear type 10 | AR |
NDUFAF3 | 612911 | Mitochondrial complex I deficiency, nuclear type 18 | AR |
NDUFAF4 | 611776 | Mitochondrial complex I deficiency, nuclear type 15 | AR |
NDUFAF5 | 612360 | Mitochondrial complex I deficiency, nuclear type 16 | AR |
NDUFAF6 | 612392 | Mitochondrial complex I deficiency, nuclear type 17 | AR |
Fanconi renotubular syndrome 5 | AR | ||
NDUFB3 | 603839 | Mitochondrial complex I deficiency, nuclear type 25 | AR |
NDUFS1 | 157655 | Mitochondrial complex I deficiency, nuclear type 5 | AR |
NDUFS2 | 602985 | Mitochondrial complex I deficiency, nuclear type 6 | AR |
NDUFS3 | 603846 | Mitochondrial complex I deficiency, nuclear type 8 | AR |
NDUFS4 | 602694 | Mitochondrial complex I deficiency, nuclear type 1 | AR |
NDUFS6 | 603848 | Mitochondrial complex I deficiency, nuclear type 9 | AR |
NDUFS7 | 601825 | Mitochondrial complex I deficiency, nuclear type 3 | AR |
NDUFS8 | 602141 | Mitochondrial complex I deficiency, nuclear type 2 | AR |
NDUFV1 | 161015 | Mitochondrial complex I deficiency, nuclear type 4 | AR |
NDUFV2 | 600532 | Mitochondrial complex I deficiency, nuclear type 7 | AR |
NFU1 | - | Multiple mitochondrial dysfunctions syndrome 1 | AR |
NIPA1 | 608145 | Spastic paraplegia 6, autosomal dominant | AD |
NKX6-2 | 605955 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | AR |
NPC1 | 607623 | Niemann-Pick disease, type C1 | AR |
Niemann-Pick disease, type D | AR | ||
NPC2 | 601015 | Niemann-pick disease, type C2 | AR |
NPHP1 | 607100 | Joubert syndrome 4 | AR |
Nephronophthisis 1, juvenile | AR | ||
Senior-Loken syndrome-1 | AR | ||
NR2F1 | 132890 | Bosch-Boonstra-Schaaf optic atrophy syndrome | AD |
NT5C2 | 600417 | Spastic paraplegia 45, autosomal recessive | AR |
NUBPL | 613621 | Mitochondrial complex I deficiency, nuclear type 21 | AR |
OFD1 | 300170 | Joubert syndrome 10 | XLR |
Simpson-Golabi-Behmel syndrome, type 2 | XLR | ||
?Retinitis pigmentosa 23 | XLR | ||
Orofaciodigital syndrome I | XLD | ||
OPA1 | 605290 | Optic atrophy 1 | AD |
?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) | AR | ||
Glaucoma, normal tension, susceptibility to | - | ||
Optic atrophy plus syndrome | AD | ||
Behr syndrome | AR | ||
OPA3 | 606580 | 3-methylglutaconic aciduria, type III | AR |
Optic atrophy 3 with cataract | 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 | AR |
Neurodegeneration with brain iron accumulation 1 | AR | ||
PARS2 | 612036 | Developmental and epileptic encephalopathy 75 | AR |
PAX6 | 607108 | ?Coloboma, ocular | AD |
Aniridia | AD | ||
?Morning glory disc anomaly | AD | ||
Keratitis | AD | ||
Optic nerve hypoplasia | AD | ||
?Coloboma of optic nerve | AD | ||
Anterior segment dysgenesis 5, multiple subtypes | AD | ||
Cataract with late-onset corneal dystrophy | AD | ||
Foveal hypoplasia 1 | AD | ||
PC | 608786 | Pyruvate carboxylase deficiency | AR |
PCCA | 232000 | Propionicacidemia | AR |
PCCB | 232050 | Propionicacidemia | AR |
PDHA1 | - | 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 | Mitochondrial complex IV deficiency, nuclear type 12 | AR |
PEX10 | 602859 | Peroxisome biogenesis disorder 6A (Zellweger) | AR |
Peroxisome biogenesis disorder 6B | AR | ||
PEX2 | 170993 | Peroxisome biogenesis disorder 5B | AR |
Peroxisome biogenesis disorder 5A (Zellweger) | AR | ||
PEX7 | 601757 | Peroxisome biogenesis disorder 9B | AR |
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 | AR |
Parkinson disease 14, autosomal recessive | AR | ||
Infantile neuroaxonal dystrophy 1 | AR | ||
PLP1 | 300401 | Pelizaeus-Merzbacher disease | XLR |
Spastic paraplegia 2, X-linked | XLR | ||
PMPCA | 613036 | Spinocerebellar ataxia, autosomal recessive 2 | AR |
PNKD | 609023 | Paroxysmal nonkinesigenic dyskinesia 1 | AD |
PNKP | 605610 | Ataxia-oculomotor apraxia 4 | AR |
Microcephaly, seizures, and developmental delay | AR | ||
?Charcot-Marie-Tooth disease, type 2B2 | AR | ||
PNPLA6 | 603197 | Spastic paraplegia 39, autosomal recessive | AR |
Boucher-Neuhauser syndrome | AR | ||
Oliver-McFarlane syndrome | AR | ||
?Laurence-Moon syndrome | AR | ||
PNPT1 | 610316 | Deafness, autosomal recessive 70 | AR |
Combined oxidative phosphorylation deficiency 13 | AR | ||
Spinocerebellar ataxia 25 | - | ||
POLG | 174763 | Progressive external ophthalmoplegia, autosomal recessive 1 | AR |
Progressive external ophthalmoplegia, autosomal dominant 1 | AD | ||
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) | AR | ||
Mitochondrial DNA depletion syndrome 4B (MNGIE type) | AR | ||
Mitochondrial DNA depletion syndrome 4A (Alpers type) | AR | ||
POLG2 | 604983 | Mitochondrial DNA depletion syndrome 16 (hepatic type) | AR |
?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type) | AR | ||
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | AD | ||
POLR3A | 614258 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | AR |
Wiedemann-Rautenstrauch syndrome | AR | ||
POLR3B | 614366 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | AR |
Charcot-Marie-Tooth disease, demyelinating, type 1I | AD | ||
PRICKLE1 | 608500 | Epilepsy, progressive myoclonic 1B | AR |
PRKCG | 176980 | Spinocerebellar ataxia 14 | AD |
PRRT2 | 614386 | Episodic kinesigenic dyskinesia 1 | AD |
Convulsions, familial infantile, with paroxysmal choreoathetosis | AD | ||
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 | AR |
Martsolf syndrome | AR | ||
RARS1 | 107820 | Leukodystrophy, hypomyelinating, 9 | AR |
RARS2 | 611524 | Pontocerebellar hypoplasia, type 6 | AR |
REEP1 | 609139 | Spastic paraplegia 31, autosomal dominant | AD |
?Neuronopathy, distal hereditary motor, type VB | AD | ||
Spinal muscular atrophy, distal, autosomal recessive, 6 | - | ||
REEP2 | 609347 | ?Spastic paraplegia 72, autosomal recessive | AD, AR |
?Spastic paraplegia 72, autosomal dominant | AD, AR | ||
RMND1 | 614917 | Combined oxidative phosphorylation deficiency 11 | AR |
RNASEH1 | 604123 | Progressive external ophthalmoplegia with mitochondrial 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 | AR |
?COACH syndrome 3 | AR | ||
Meckel syndrome 5 | AR | ||
RRM2B | 604712 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | AR |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | AD | ||
Mitochondrial DNA depletion syndrome 8B (MNGIE type) | AR | ||
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | AR | ||
RTN2 | 603183 | Spastic paraplegia 12, autosomal dominant | AD |
RUBCN | 613516 | Spinocerebellar ataxia, autosomal recessive 15 | AR |
SACS | 604490 | Spastic ataxia, Charlevoix-Saguenay type | AR |
SAMD9L | 611170 | Ataxia-pancytopenia syndrome | AD |
Monosomy 7 myelodysplasia and leukemia syndrome 1 | AD | ||
Spinocerebellar ataxia 49 | AD | ||
SARS2 | 612804 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | AR |
SCN1A | 182389 | Epilepsy, generalized, with febrile seizures plus, type 2 | AD |
Migraine, familial hemiplegic, 3 | AD | ||
Developmental and epileptic encephalopathy 6B, non-Dravet | AD | ||
Febrile seizures, familial, 3A | AD | ||
Dravet syndrome | AD | ||
SCN2A | 182390 | Developmental and epileptic encephalopathy 11 | AD |
Seizures, benign familial infantile, 3 | AD | ||
Episodic ataxia, type 9 | AD | ||
SCO1 | 603644 | Mitochondrial complex IV deficiency, nuclear type 4 | AR |
SCO2 | 604272 | Myopia 6 | AD |
Mitochondrial complex IV deficiency, nuclear type 2 | AR | ||
SCYL1 | 607982 | Spinocerebellar ataxia, autosomal recessive 21 | AR |
SDHA | 600857 | Neurodegeneration with ataxia and late-onset optic atrophy | AD |
Cardiomyopathy, dilated, 1GG | AR | ||
Leigh syndrome | AR, Mitochondrial | ||
Mitochondrial respiratory chain complex II deficiency | AR | ||
Paragangliomas 5 | AD | ||
SDHAF1 | 612848 | Mitochondrial complex II deficiency, nuclear type 2 | AR |
Mitochondrial complex II deficiency | AR | ||
SELENOI | 607915 | Spastic paraplegia 81, autosomal recessive | AR |
SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | AR |
SETX | 608465 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | AR |
Amyotrophic lateral sclerosis 4, juvenile | 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 | AR |
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) | AR |
Microcephaly, Amish type | AR | ||
SLC25A26 | 611037 | Combined oxidative phosphorylation deficiency 28 | AR |
SLC25A3 | 600370 | Mitochondrial phosphate carrier deficiency | AR |
SLC25A38 | 610819 | Anemia, sideroblastic, 2, pyridoxine-refractory | AR |
SLC25A4 | 103220 | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR | AR |
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD | AD | ||
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | AD | ||
SLC25A46 | 610826 | Neuropathy, hereditary motor and sensory, type VIB | AR |
Pontocerebellar hypoplasia, type 1E | AR | ||
SLC2A1 | 138140 | GLUT1 deficiency syndrome 2, childhood onset | AD |
GLUT1 deficiency syndrome 1, infantile onset, severe | AD, AR | ||
Epilepsy, idiopathic generalized, susceptibility to, 12 | AD | ||
Stomatin-deficient cryohydrocytosis with neurologic defects | AD | ||
Dystonia 9 | AD | ||
SLC33A1 | 603690 | Congenital cataracts, hearing loss, and neurodegeneration | AR |
Spastic paraplegia 42, autosomal dominant | AD | ||
SLC52A2 | 607882 | Brown-Vialetto-Van Laere syndrome 2 | AR |
SLC52A3 | 613350 | ?Fazio-Londe disease | AR |
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, autosomal dominant | AD |
SPG11 | 610844 | Spastic paraplegia 11, autosomal recessive | AR |
Amyotrophic lateral sclerosis 5, juvenile | AR | ||
Charcot-Marie-Tooth disease, axonal, type 2X | AR | ||
SPG21 | 608181 | Mast syndrome | AR |
SPG7 | 602783 | Spastic paraplegia 7, autosomal recessive | AD, AR |
SPR | 182125 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
SPTBN2 | 604985 | Spinocerebellar ataxia, autosomal recessive 14 | AR |
Spinocerebellar ataxia 5 | AD | ||
STUB1 | 607207 | ?Spinocerebellar ataxia 48 | AD |
Spinocerebellar ataxia, autosomal recessive 16 | AR | ||
SUCLA2 | 603921 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | AR |
SUCLG1 | 611224 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | AR |
SURF1 | 185620 | Charcot-Marie-Tooth disease, type 4K | AR |
Mitochondrial complex IV deficiency, nuclear type 1 | AR | ||
SYNE1 | 608441 | Arthrogryposis multiplex congenita 3, myogenic type | AR |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant | AD | ||
Spinocerebellar ataxia, autosomal recessive 8 | AR | ||
TACO1 | 612958 | Mitochondrial complex IV deficiency, nuclear type 8 | AR |
TARS2 | 612805 | ?Combined oxidative phosphorylation deficiency 21 | AR |
TBC1D24 | 613577 | Deafness, autosomal dominant 65 | AD |
Deafness, autosomal recessive 86 | AR | ||
Myoclonic epilepsy, infantile, familial | AR | ||
Developmental and epileptic encephalopathy 16 | AR | ||
DOORS syndrome | AR | ||
Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp | AR | ||
TCTN1 | 609863 | Joubert syndrome 13 | AR |
TCTN2 | 613846 | ?Meckel syndrome 8 | AR |
Joubert syndrome 24 | AR | ||
TCTN3 | 613847 | Joubert syndrome 18 | AR |
Orofaciodigital syndrome IV | AR | ||
TDP1 | 607198 | ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | AR |
TECPR2 | 615000 | Spastic paraplegia 49, autosomal recessive | AR |
TFG | 602498 | Hereditary motor and sensory neuropathy, Okinawa type | AD |
?Spastic paraplegia 57, autosomal recessive | AR | ||
TGM6 | 613900 | Spinocerebellar ataxia 35 | AD |
TIMM8A | 300356 | Mohr-Tranebjaerg syndrome | XLR |
TK2 | 188250 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | AR |
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | AR | ||
TMEM126B | 615533 | Mitochondrial complex I deficiency, nuclear type 29 | AR |
TMEM138 | 614459 | Joubert syndrome 16 | AR |
TMEM216 | 613277 | Meckel syndrome 2 | AR |
Joubert syndrome 2 | AR | ||
TMEM231 | 614949 | Joubert syndrome 20 | AR |
Meckel syndrome 11 | AR | ||
TMEM237 | 614423 | Joubert syndrome 14 | AR |
TMEM240 | 616101 | Spinocerebellar ataxia 21 | AD |
TMEM67 | 609884 | COACH syndrome 1 | AR |
?RHYNS syndrome | AR | ||
Meckel syndrome 3 | AR | ||
Joubert syndrome 6 | AR | ||
Bardet-Biedl syndrome 14, modifier of | AR | ||
Nephronophthisis 11 | AR | ||
TMEM70 | 612418 | Mitochondrial 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 | AR |
Spinocerebellar ataxia, autosomal recessive 7 | AR | ||
TRIM32 | 602290 | Muscular dystrophy, limb-girdle, autosomal recessive 8 | AR |
?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 | AR |
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 | AR |
?Pontocerebellar hypoplasia type 5 | AR | ||
Pontocerebellar hypoplasia type 4 | AR | ||
TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
TTBK2 | 611695 | Spinocerebellar ataxia 11 | AD |
TTC19 | 613814 | Mitochondrial complex III deficiency, nuclear type 2 | AR |
TTC8 | - | Bardet-Biedl syndrome 8 | AR |
?Retinitis pigmentosa 51 | AR | ||
TTPA | 600415 | Ataxia with isolated vitamin E deficiency | AR |
TTR | 176300 | [Dystransthyretinemic hyperthyroxinemia] | AD |
Carpal tunnel syndrome, familial | AD | ||
Amyloidosis, hereditary, transthyretin-related | AD | ||
TUBB4A | 602662 | Dystonia 4, torsion, autosomal dominant | AD |
Leukodystrophy, hypomyelinating, 6 | AD | ||
TUFM | 602389 | Combined oxidative phosphorylation deficiency 4 | AR |
TWNK | 606075 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | AD |
Perrault syndrome 5 | AR | ||
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | AR | ||
TYMP | 131222 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | AR |
UBA5 | 610552 | Developmental and epileptic encephalopathy 44 | AR |
?Spinocerebellar ataxia, autosomal recessive 24 | AR | ||
UBAP1 | 609787 | Spastic paraplegia 80, autosomal dominant | AD |
UBE3A | 601623 | Angelman syndrome | AD |
UBTF | 600673 | Neurodegeneration, childhood-onset, with brain atrophy | AD |
UCHL1 | 191342 | ?Parkinson disease 5, susceptibility to | AD |
Spastic paraplegia 79, autosomal recessive | AR | ||
UNC80 | 612636 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | AR |
UQCC2 | 614461 | Mitochondrial complex III deficiency, nuclear type 7 | AR |
UQCRB | 191330 | Mitochondrial complex III deficiency, nuclear type 3 | AR |
UQCRC2 | 191329 | Mitochondrial complex III deficiency, nuclear type 5 | AR |
UQCRQ | 612080 | Mitochondrial complex III deficiency, nuclear type 4 | AR |
USP8 | 603158 | Pituitary adenoma 4, ACTH-secreting, somatic | - |
VAMP1 | 185880 | Myasthenic syndrome, congenital, 25 | AR |
Spastic ataxia 1, autosomal dominant | AD | ||
VARS2 | 612802 | Combined oxidative phosphorylation deficiency 20 | AR |
VCP | 601023 | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 | AD |
Charcot-Marie-Tooth disease, type 2Y | AD | ||
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, autosomal recessive | AR |
VRK1 | 602168 | Pontocerebellar hypoplasia type 1A | AR |
WASHC5 | 610657 | Spastic paraplegia 8, autosomal dominant | AD |
Ritscher-Schinzel syndrome 1 | AR | ||
WDR45 | - | 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 | AR |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | AR | ||
WFS1 | 606201 | ?Cataract 41 | AD |
Wolfram-like syndrome, autosomal dominant | AD | ||
Wolfram syndrome 1 | AR | ||
Diabetes mellitus, noninsulin-dependent, association with | AD | ||
Deafness, autosomal dominant 6/14/38 | AD | ||
WWOX | 605131 | Esophageal squamous cell carcinoma, somatic | - |
Developmental and epileptic encephalopathy 28 | AR | ||
Spinocerebellar ataxia, autosomal recessive 12 | AR | ||
YARS2 | 610957 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | AR |
ZFYVE26 | 612012 | Spastic paraplegia 15, autosomal recessive | AR |
ZFYVE27 | 610243 | Spastic paraplegia 33, autosomal dominant | AD |
ZNF423 | 604557 | Joubert syndrome 19 | AD, AR |
Nephronophthisis 14 | AD, AR |
Ataxia / Spastic paraplegia comprehensive panel
No. of genes: | 494 |
---|---|
TAT: | 25 business days |
Coverage: | ≥99.00% ≥20x |
Details: |
NGS including CNV analysis
Repeat expansion analysis: ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PPP2R2B, TBP
|
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8 | AR |
Leukoencephalopathy, progressive, with ovarian failure | AR | ||
ABCB7 | 300135 | Anemia, sideroblastic, with ataxia | XLR |
ABCD1 | 300371 | Adrenoleukodystrophy | XLR |
Adrenomyeloneuropathy, adult | XLR | ||
ABHD12 | 613599 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | AR |
ABHD5 | 604780 | Chanarin-Dorfman syndrome | AR |
ACAD9 | 611103 | Mitochondrial complex I deficiency, nuclear type 20 | AR |
ACADVL | 609575 | VLCAD deficiency | AR |
ACO2 | 100850 | ?Optic atrophy 9 | AR |
Infantile cerebellar-retinal degeneration | AR | ||
ADAR | 146920 | Aicardi-Goutieres syndrome 6 | AR |
Dyschromatosis symmetrica hereditaria | AD | ||
ADPRS | 610624 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | AR |
AFG3L2 | 604581 | Spinocerebellar ataxia 28 | AD |
Spastic ataxia 5, autosomal recessive | AR | ||
Optic atrophy 12 | AD | ||
AGK | 610345 | Sengers syndrome | AR |
Cataract 38, autosomal recessive | AR | ||
AGTPBP1 | 606830 | Neurodegeneration, childhood-onset, with cerebellar atrophy | AR |
AHI1 | 608894 | Joubert syndrome 3 | AR |
AIFM1 | 300169 | Cowchock syndrome | XLR |
Combined oxidative phosphorylation deficiency 6 | XLR | ||
Deafness, X-linked 5 | XLR | ||
Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy | XLR | ||
AIMP1 | 603605 | Leukodystrophy, hypomyelinating, 3 | AR |
ALAS2 | 301300 | Protoporphyria, erythropoietic, X-linked | XL |
Anemia, sideroblastic, 1 | XLR | ||
ALDH18A1 | 138250 | Cutis laxa, autosomal dominant 3 | AD |
Cutis laxa, autosomal recessive, type IIIA | AR | ||
Spastic paraplegia 9B, autosomal recessive | AR | ||
Spastic paraplegia 9A, autosomal dominant | AD | ||
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
ALS2 | 606352 | Amyotrophic lateral sclerosis 2, juvenile | AR |
Spastic paralysis, infantile onset ascending | AR | ||
Primary lateral sclerosis, juvenile | AR | ||
AMACR | 604489 | Bile acid synthesis defect, congenital, 4 | AR |
Alpha-methylacyl-CoA racemase deficiency | AR | ||
AMPD2 | 102771 | ?Spastic paraplegia 63 | AR |
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, autosomal recessive | AR |
AP4E1 | 607244 | Stuttering, familial persistent, 1 | AD |
Spastic paraplegia 51, autosomal recessive | AR | ||
AP4M1 | 602296 | Spastic paraplegia 50, autosomal recessive | AR |
AP4S1 | 607243 | Spastic paraplegia 52, autosomal recessive | AR |
AP5Z1 | 613653 | Spastic paraplegia 48, autosomal recessive | 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 | AR |
Bardet-Biedl syndrome 1, modifier of | AR, DR | ||
Bardet-Biedl syndrome 3 | AR | ||
ARL6IP1 | 607669 | ?Spastic paraplegia 61, autosomal recessive | AR |
ARSA | 607574 | Metachromatic leukodystrophy | AR |
ATCAY | 608179 | Ataxia, cerebellar, Cayman type | AR |
ATL1 | 606439 | Spastic paraplegia 3A, autosomal dominant | AD |
Neuropathy, hereditary sensory, type ID | AD | ||
ATM | 607585 | Breast cancer, susceptibility to | AD, SM |
Ataxia-telangiectasia | AR | ||
ATN1 | 607462 | Dentatorubral-pallidoluysian atrophy | AD |
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | AD | ||
ATP13A2 | 610513 | Spastic paraplegia 78, autosomal recessive | AR |
Kufor-Rakeb syndrome | AR | ||
ATP1A2 | 182340 | Developmental and epileptic encephalopathy 98 | AD |
Alternating hemiplegia of childhood 1 | AD | ||
Migraine, familial basilar | AD | ||
Migraine, familial hemiplegic, 2 | AD | ||
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | AR | ||
ATP1A3 | 182350 | Alternating hemiplegia of childhood 2 | AD |
Dystonia-12 | AD | ||
Developmental and epileptic encephalopathy 99 | AD | ||
CAPOS syndrome | AD | ||
ATP2B3 | 300014 | ?Spinocerebellar ataxia, X-linked 1 | XLR |
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 | XLR |
Alpha-thalassemia/mental retardation syndrome | XLD | ||
Alpha-thalassemia myelodysplasia syndrome, somatic | - | ||
ATXN1 | 601556 | Spinocerebellar ataxia 1 | AD |
ATXN10 | 611150 | Spinocerebellar ataxia 10 | AD |
ATXN2 | - | Spinocerebellar ataxia 2 | AD |
Parkinson disease, late-onset, susceptibility to | AD, MF | ||
Amyotrophic lateral sclerosis, susceptibility to, 13 | AD | ||
ATXN3 | 607047 | Machado-Joseph disease | AD |
ATXN7 | 607640 | Spinocerebellar ataxia 7 | AD |
ATXN8OS | 603680 | Parkinson disease, susceptibility to | AD, MF |
Spinocerebellar ataxia 8 | AD | ||
AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
B4GALNT1 | 601873 | Spastic paraplegia 26, autosomal recessive | AR |
B9D1 | 614144 | ?Meckel syndrome 9 | AR |
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 | AR |
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 | AR |
Bjornstad syndrome | AR | ||
Mitochondrial complex III deficiency, nuclear type 1 | AR | ||
BEAN1 | 612051 | Spinocerebellar ataxia 31 | AD |
BICD2 | 609797 | Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | AD |
Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | AD | ||
BOLA3 | 613183 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | AR |
BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2 | AR |
Encephalopathy, progressive, with or without lipodystrophy | AR | ||
Silver spastic paraplegia syndrome | AD | ||
Neuropathy, distal hereditary motor, type VC | AD | ||
BTD | 609019 | Biotinidase deficiency | AR |
C19orf12 | 614297 | Neurodegeneration with brain iron accumulation 4 | AD, AR |
?Spastic paraplegia 43, autosomal recessive | AR | ||
CA8 | 114815 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 | AR |
CACNA1A | 601011 | Episodic ataxia, type 2 | AD |
Migraine, familial hemiplegic, 1 | AD | ||
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia | AD | ||
Spinocerebellar ataxia 6 | AD | ||
Developemental and epileptic encephalopathy 42 | AD | ||
CACNA1G | 604065 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | AD |
Spinocerebellar ataxia 42 | AD | ||
CACNB4 | 601949 | Epilepsy, juvenile myoclonic, susceptibility to, 6 | AD |
Epilepsy, idiopathic generalized, susceptibility to, 9 | AD | ||
Episodic ataxia, type 5 | AD | ||
CAMTA1 | 611501 | Cerebellar ataxia, nonprogressive, with mental retardation | AD |
CAPN1 | 114220 | Spastic paraplegia 76, autosomal recessive | 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 | XLD | ||
FG syndrome 4 | - | ||
CC2D2A | 612013 | Meckel syndrome 6 | AR |
Retinitis pigmentosa 93 | AR | ||
Joubert syndrome 9 | AR | ||
COACH syndrome 2 | AR | ||
CCDC88C | 611204 | Hydrocephalus, congenital, 1 | AR |
?Spinocerebellar ataxia 40 | AD | ||
CCT5 | 610150 | Neuropathy, hereditary sensory, with spastic paraplegia | AR |
CEP290 | 610142 | Leber congenital amaurosis 10 | - |
Meckel syndrome 4 | AR | ||
?Bardet-Biedl syndrome 14 | AR | ||
Senior-Loken syndrome 6 | AR | ||
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 | AD |
Hyperaldosteronism, familial, type II | AD | ||
Epilepsy, juvenile myoclonic, susceptibility to, 8 | AD | ||
Epilepsy, idiopathic generalized, susceptibility to, 11 | AD | ||
Leukoencephalopathy with ataxia | AR | ||
CLN5 | - | Ceroid lipofuscinosis, neuronal, 5 | AR |
CLN6 | 606725 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset | AR |
Ceroid lipofuscinosis, neuronal, 6 | AR | ||
CLPB | 616254 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia | AR |
3-methylglutaconic aciduria, type VIIA, autosomal dominant | AD | ||
Neutropenia, severe congenital, 9, autosomal dominant | AD | ||
CLPP | 601119 | Perrault syndrome 3 | AR |
COA6 | 614772 | Mitochondrial complex IV deficiency, nuclear type 13 | AR |
COA7 | 615623 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | AR |
COA8 | 616003 | Mitochondrial complex IV deficiency, nuclear type 17 | AR |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6 | AR |
Pontocerebellar hypoplasia, type 12 | AR | ||
COL4A1 | 120130 | ?Retinal arteries, tortuosity of | AD |
Hemorrhage, intracerebral, susceptibility to | - | ||
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | AD | ||
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | AD | ||
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 | AR |
Multiple system atrophy, susceptibility to | 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 | Mitochondrial complex IV deficiency, nuclear type 3 | AR |
COX15 | 603646 | Mitochondrial complex IV deficiency, nuclear type 6 | AR |
COX20 | 614698 | Mitochondrial complex IV deficiency, nuclear type 11 | AR |
COX6A1 | 602072 | Charcot-Marie-Tooth disease, recessive intermediate D | AR |
COX6B1 | 124089 | Mitochondrial complex IV deficiency, nuclear type 7 | AR |
CP | 117700 | Cerebellar ataxia | AR |
Hemosiderosis, systemic, due to aceruloplasminemia | AR | ||
[Hypoceruloplasminemia, hereditary] | AR | ||
CPLANE1 | 614571 | Orofaciodigital syndrome VI | AR |
Joubert syndrome 17 | AR | ||
CPT1C | 608846 | ?Spastic paraplegia 73, autosomal dominant | 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 | Mitochondrial complex III deficiency, nuclear type 6 | AR |
CYP27A1 | 606530 | Cerebrotendinous xanthomatosis | AR |
CYP2U1 | 610670 | Spastic paraplegia 56, autosomal recessive | AR |
CYP7B1 | 603711 | Spastic paraplegia 5A, autosomal recessive | 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, autosomal recessive | AR |
DDHD2 | 615003 | Spastic paraplegia 54, autosomal recessive | AR |
DGUOK | - | Portal hypertension, noncirrhotic | AR |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | AR | ||
Mitochondrial 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 | AR |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | AD | ||
DNAJC19 | 608977 | 3-methylglutaconic aciduria, type V | AR |
DNAJC5 | 611203 | Ceroid lipofuscinosis, neuronal, 4, Parry type | AD |
DNM1L | 603850 | Optic atrophy 5 | AD |
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | AD, AR | ||
DNMT1 | 126375 | Neuropathy, hereditary sensory, type IE | AD |
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | AD | ||
DOCK3 | 603123 | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | AR |
DSTYK | 612666 | Spastic paraplegia 23 | AR |
Congenital anomalies of kidney and urinary tract 1 | AD | ||
EARS2 | 612799 | Combined oxidative phosphorylation deficiency 12 | AR |
EBF3 | 607407 | Hypotonia, ataxia, and delayed development syndrome | AD |
ECHS1 | 602292 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | AR |
EIF2B1 | 606686 | Leukoencephalopathy with vanishing white matter | AR |
EIF2B2 | 606454 | Ovarioleukodystrophy | AR |
Leukoencephalopathy with vanishing white matter | AR | ||
EIF2B3 | 606273 | Leukoencephalopathy with vanishing white matter | AR |
EIF2B4 | 606687 | Ovarioleukodystrophy | AR |
Leukoencephalopathy with vanishing white matter | AR | ||
EIF2B5 | 603945 | Ovarioleukodystrophy | AR |
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 | AR |
Stargardt disease 3 | AD | ||
Spinocerebellar ataxia 34 | AD | ||
ELOVL5 | 611805 | Spinocerebellar ataxia 38 | AD |
ENTPD1 | 601752 | Spastic paraplegia 64, autosomal recessive | AR |
ERLIN1 | 611604 | Spastic paraplegia 62 | AR |
ERLIN2 | 611605 | Spastic paraplegia 18, autosomal recessive | AR |
ETFA | - | 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, autosomal recessive | AR |
FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14 | AR |
Spastic paraplegia 77, autosomal recessive | AR | ||
FASTKD2 | 612322 | Combined oxidative phosphorylation deficiency 44 | AR |
FAT2 | 604269 | Spinocerebellar ataxia 45 | AD |
FBXL4 | 605654 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | AR |
FDX2 | 614585 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | AR |
FDXR | 103270 | Auditory neuropathy and optic atrophy | AR |
FGF14 | - | Spinocerebellar ataxia 27 | AD |
Spinocerebellar ataxia 27 | - | ||
Spinocerebellar ataxia 27B, late-onset | - | ||
FH | 136850 | Fumarase deficiency | AR |
Leiomyomatosis and renal cell cancer | 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 | Mitochondrial complex I deficiency, nuclear type 19 | AR |
FTL | 134790 | Neurodegeneration with brain iron accumulation 3 | AD |
Hyperferritinemia-cataract syndrome | AD | ||
L-ferritin deficiency, dominant and recessive | AD, AR | ||
FXN | 606829 | Friedreich ataxia | AR |
Friedreich ataxia with retained reflexes | AR | ||
GAD1 | 605363 | ?Cerebral palsy, spastic quadriplegic, 1 | AR |
Developmental and epileptic encephalopathy 89 | AR | ||
GALC | 606890 | Krabbe disease | AR |
GARS1 | 600287 | Spinal muscular atrophy, infantile, James type | AD |
Charcot-Marie-Tooth disease, type 2D | AD | ||
Neuronopathy, distal hereditary motor, type VA | AD | ||
GBA | 606463 | Lewy body dementia, susceptibility to | AD |
Gaucher disease, type IIIC | AR | ||
Parkinson disease, late-onset, susceptibility to | AD, MF | ||
Gaucher disease, type II | AR | ||
Gaucher disease, type III | AR | ||
Gaucher disease, perinatal lethal | AR | ||
Gaucher disease, type I | AR | ||
GBA2 | 609471 | Spastic paraplegia 46, autosomal recessive | AR |
GCDH | 608801 | Glutaricaciduria, type I | AR |
GCH1 | 600225 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | AD, AR |
Hyperphenylalaninemia, BH4-deficient, B | AR | ||
GFAP | 137780 | Alexander disease | AD |
GFER | 600924 | Myopathy, mitochondrial 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, X-linked dominant, 1 | XLD |
GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2 | AR |
Spastic paraplegia 44, autosomal recessive | AR | ||
Lymphatic malformation 3 | AD | ||
GLRX5 | 609588 | Spasticity, childhood-onset, with hyperglycinemia | AR |
Anemia, sideroblastic, 3, pyridoxine-refractory | AR | ||
GOSR2 | 604027 | Epilepsy, progressive myoclonic 6 | AR |
Muscular dystrophy, congenital, with or without seizures | - | ||
GRID2 | 602368 | Spinocerebellar ataxia, autosomal recessive 18 | AR |
GRM1 | 604473 | Spinocerebellar ataxia 44 | AD |
Spinocerebellar ataxia, autosomal recessive 13 | AR | ||
GSS | 601002 | Glutathione synthetase deficiency | AR |
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 | AD |
Megalencephalic leukoencephalopathy with subcortical cysts 2A | AR | ||
HEXA | 606869 | Tay-Sachs disease | AR |
[Hex A pseudodeficiency] | AR | ||
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 | AR |
Spastic paraplegia 13, autosomal dominant | 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, autosomal recessive | AR |
Multiple mitochondrial dysfunctions syndrome 3 | AR | ||
INPP5E | 613037 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
Joubert syndrome 1 | AR | ||
IRF2BPL | 611720 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | AD |
ISCA2 | 615317 | Multiple mitochondrial dysfunctions syndrome 4 | AR |
ISCU | 611911 | Myopathy with lactic acidosis, hereditary | AR |
ITM2B | 603904 | Dementia, familial British | AD |
?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities | AD | ||
Dementia, familial Danish | AD | ||
ITPR1 | 147265 | Spinocerebellar ataxia 15 | AD |
Spinocerebellar ataxia 29, congenital nonprogressive | AD | ||
Gillespie syndrome | 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 | AD |
Spinocerebellar ataxia 19 | AD | ||
KCNJ10 | 602208 | Enlarged vestibular aqueduct, digenic | AR |
SESAME syndrome | AR | ||
KDM5C | 314690 | Mental retardation, X-linked, syndromic, Claes-Jensen type | XLR |
KIDINS220 | 615759 | Ventriculomegaly and arthrogryposis | AR |
Spastic paraplegia, intellectual disability, nystagmus, and obesity | AD | ||
KIF1A | 601255 | NESCAV syndrome | AD |
Spastic paraplegia 30, autosomal recessive | AD, AR | ||
Neuropathy, hereditary sensory, type IIC | AR | ||
Spastic paraplegia 30, autosomal dominant | AD, AR | ||
KIF1C | 603060 | Spastic ataxia 2, autosomal recessive | AR |
KIF5A | 602821 | Amyotrophic lateral sclerosis, susceptibility to, 25 | AD |
Myoclonus, intractable, neonatal | AD | ||
Spastic paraplegia 10, autosomal dominant | AD | ||
KIF7 | 611254 | Joubert syndrome 12 | AR |
?Hydrolethalus syndrome 2 | AR | ||
?Al-Gazali-Bakalinova syndrome | AR | ||
Acrocallosal syndrome | AR | ||
L1CAM | 308840 | Hydrocephalus with congenital idiopathic intestinal pseudoobstruction | XLR |
CRASH syndrome | XLR | ||
Corpus callosum, partial agenesis of | XLR | ||
Hydrocephalus with Hirschsprung disease | XLR | ||
MASA syndrome | XLR | ||
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 | AR |
Perrault syndrome 4 | AR | ||
LIAS | 607031 | Hyperglycinemia, lactic acidosis, and seizures | AR |
LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
LMNB1 | 150340 | Leukodystrophy, adult-onset, autosomal dominant | AD |
Microcephaly 26, primary, autosomal dominant | AD | ||
LRPPRC | 607544 | Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) | AR |
LYRM7 | 615831 | Mitochondrial complex III deficiency, nuclear type 8 | AR |
LYST | 606897 | Chediak-Higashi syndrome | AR |
MAG | 159460 | Spastic paraplegia 75, autosomal recessive | AR |
MARS1 | 156560 | Charcot-Marie-Tooth disease, axonal, type 2U | AD |
?Trichothiodystrophy 9, nonphotosensitive | AR | ||
Interstitial lung and liver disease | AR | ||
MARS2 | 609728 | Spastic ataxia 3, autosomal recessive | 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 mitochondrial and peroxisomal fission 2 | AR |
MFN2 | 608507 | Hereditary motor and sensory neuropathy VIA | AD |
Charcot-Marie-Tooth disease, axonal, type 2A2B | AR | ||
Charcot-Marie-Tooth disease, axonal, type 2A2A | AD | ||
MGME1 | 615076 | Mitochondrial DNA depletion syndrome 11 | AR |
MICU1 | 605084 | Myopathy with extrapyramidal signs | AR |
MKKS | 604896 | McKusick-Kaufman syndrome | AR |
Bardet-Biedl syndrome 6 | AR | ||
MKS1 | 609883 | Bardet-Biedl syndrome 13 | AR |
Joubert syndrome 28 | AR | ||
Meckel syndrome 1 | AR | ||
MLC1 | 605908 | Megalencephalic leukoencephalopathy with subcortical cysts | AR |
MOCS1 | 603707 | Molybdenum cofactor deficiency A | AR |
MPC1 | 614738 | Mitochondrial pyruvate carrier deficiency | AR |
MPV17 | 137960 | Charcot-Marie-Tooth disease, axonal, type 2EE | AR |
Mitochondrial 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 | AR |
Combined oxidative phosphorylation deficiency 5 | AR | ||
MSTO1 | 617619 | Myopathy, mitochondrial, and ataxia | AD, AR |
MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15 | AR |
Mitochondrial complex I deficiency, nuclear type 27 | AR | ||
MTO1 | 614667 | Combined oxidative phosphorylation deficiency 10 | AR |
MTPAP | 613669 | ?Spastic ataxia 4, autosomal recessive | AR |
MTRFR | 613541 | Spastic paraplegia 55, autosomal recessive | AR |
Combined oxidative phosphorylation deficiency 7 | AR | ||
MTTP | 157147 | Metabolic syndrome, protection against | AD |
Abetalipoproteinemia | AR | ||
NARS2 | 612803 | ?Deafness, autosomal recessive 94 | AR |
Combined oxidative phosphorylation deficiency 24 | AR | ||
NDUFA1 | 300078 | Mitochondrial complex I deficiency, nuclear type 12 | XLR |
NDUFA10 | 603835 | Mitochondrial complex I deficiency, nuclear type 22 | AR |
NDUFA11 | 612638 | Mitochondrial complex I deficiency, nuclear type 14 | AR |
NDUFA12 | 614530 | ?Mitochondrial complex I deficiency, nuclear type 23 | AR |
NDUFA2 | 602137 | Mitochondrial complex I deficiency, nuclear type 13 | AR |
NDUFA9 | 603834 | Mitochondrial complex I deficiency, nuclear type 26 | AR |
NDUFAF1 | 606934 | Mitochondrial complex I deficiency, nuclear type 11 | AR |
NDUFAF2 | 609653 | Mitochondrial complex I deficiency, nuclear type 10 | AR |
NDUFAF3 | 612911 | Mitochondrial complex I deficiency, nuclear type 18 | AR |
NDUFAF4 | 611776 | Mitochondrial complex I deficiency, nuclear type 15 | AR |
NDUFAF5 | 612360 | Mitochondrial complex I deficiency, nuclear type 16 | AR |
NDUFAF6 | 612392 | Mitochondrial complex I deficiency, nuclear type 17 | AR |
Fanconi renotubular syndrome 5 | AR | ||
NDUFB3 | 603839 | Mitochondrial complex I deficiency, nuclear type 25 | AR |
NDUFS1 | 157655 | Mitochondrial complex I deficiency, nuclear type 5 | AR |
NDUFS2 | 602985 | Mitochondrial complex I deficiency, nuclear type 6 | AR |
NDUFS3 | 603846 | Mitochondrial complex I deficiency, nuclear type 8 | AR |
NDUFS4 | 602694 | Mitochondrial complex I deficiency, nuclear type 1 | AR |
NDUFS6 | 603848 | Mitochondrial complex I deficiency, nuclear type 9 | AR |
NDUFS7 | 601825 | Mitochondrial complex I deficiency, nuclear type 3 | AR |
NDUFS8 | 602141 | Mitochondrial complex I deficiency, nuclear type 2 | AR |
NDUFV1 | 161015 | Mitochondrial complex I deficiency, nuclear type 4 | AR |
NDUFV2 | 600532 | Mitochondrial complex I deficiency, nuclear type 7 | AR |
NFU1 | - | Multiple mitochondrial dysfunctions syndrome 1 | AR |
NIPA1 | 608145 | Spastic paraplegia 6, autosomal dominant | 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 | AR |
Niemann-Pick disease, type D | AR | ||
NPC2 | 601015 | Niemann-pick disease, type C2 | AR |
NPHP1 | 607100 | Joubert syndrome 4 | AR |
Nephronophthisis 1, juvenile | AR | ||
Senior-Loken syndrome-1 | AR | ||
NR2F1 | 132890 | Bosch-Boonstra-Schaaf optic atrophy syndrome | AD |
NT5C2 | 600417 | Spastic paraplegia 45, autosomal recessive | AR |
NUBPL | 613621 | Mitochondrial complex I deficiency, nuclear type 21 | AR |
OFD1 | 300170 | Joubert syndrome 10 | XLR |
Simpson-Golabi-Behmel syndrome, type 2 | XLR | ||
?Retinitis pigmentosa 23 | XLR | ||
Orofaciodigital syndrome I | XLD | ||
OPA1 | 605290 | Optic atrophy 1 | AD |
?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) | AR | ||
Glaucoma, normal tension, susceptibility to | - | ||
Optic atrophy plus syndrome | AD | ||
Behr syndrome | AR | ||
OPA3 | 606580 | 3-methylglutaconic aciduria, type III | AR |
Optic atrophy 3 with cataract | 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 | AR |
Neurodegeneration with brain iron accumulation 1 | AR | ||
PARS2 | 612036 | Developmental and epileptic encephalopathy 75 | AR |
PAX6 | 607108 | ?Coloboma, ocular | AD |
Aniridia | AD | ||
?Morning glory disc anomaly | AD | ||
Keratitis | AD | ||
Optic nerve hypoplasia | AD | ||
?Coloboma of optic nerve | AD | ||
Anterior segment dysgenesis 5, multiple subtypes | AD | ||
Cataract with late-onset corneal dystrophy | AD | ||
Foveal hypoplasia 1 | AD | ||
PC | 608786 | Pyruvate carboxylase deficiency | AR |
PCCA | 232000 | Propionicacidemia | AR |
PCCB | 232050 | Propionicacidemia | AR |
PDHA1 | - | 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 | Mitochondrial complex IV deficiency, nuclear type 12 | AR |
PEX10 | 602859 | Peroxisome biogenesis disorder 6A (Zellweger) | AR |
Peroxisome biogenesis disorder 6B | AR | ||
PEX2 | 170993 | Peroxisome biogenesis disorder 5B | AR |
Peroxisome biogenesis disorder 5A (Zellweger) | AR | ||
PEX7 | 601757 | Peroxisome biogenesis disorder 9B | AR |
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 | AR |
Parkinson disease 14, autosomal recessive | AR | ||
Infantile neuroaxonal dystrophy 1 | AR | ||
PLP1 | 300401 | Pelizaeus-Merzbacher disease | XLR |
Spastic paraplegia 2, X-linked | XLR | ||
PMPCA | 613036 | Spinocerebellar ataxia, autosomal recessive 2 | AR |
PNKD | 609023 | Paroxysmal nonkinesigenic dyskinesia 1 | AD |
PNKP | 605610 | Ataxia-oculomotor apraxia 4 | AR |
Microcephaly, seizures, and developmental delay | AR | ||
?Charcot-Marie-Tooth disease, type 2B2 | AR | ||
PNPLA6 | 603197 | Spastic paraplegia 39, autosomal recessive | AR |
Boucher-Neuhauser syndrome | AR | ||
Oliver-McFarlane syndrome | AR | ||
?Laurence-Moon syndrome | AR | ||
PNPT1 | 610316 | Deafness, autosomal recessive 70 | AR |
Combined oxidative phosphorylation deficiency 13 | AR | ||
Spinocerebellar ataxia 25 | - | ||
POLG | 174763 | Progressive external ophthalmoplegia, autosomal recessive 1 | AR |
Progressive external ophthalmoplegia, autosomal dominant 1 | AD | ||
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) | AR | ||
Mitochondrial DNA depletion syndrome 4B (MNGIE type) | AR | ||
Mitochondrial DNA depletion syndrome 4A (Alpers type) | AR | ||
POLG2 | 604983 | Mitochondrial DNA depletion syndrome 16 (hepatic type) | AR |
?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type) | AR | ||
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | AD | ||
POLR3A | 614258 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | AR |
Wiedemann-Rautenstrauch syndrome | AR | ||
POLR3B | 614366 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | AR |
Charcot-Marie-Tooth disease, demyelinating, type 1I | 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 | AD |
Convulsions, familial infantile, with paroxysmal choreoathetosis | AD | ||
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 | AR |
Martsolf syndrome | AR | ||
RARS1 | 107820 | Leukodystrophy, hypomyelinating, 9 | AR |
RARS2 | 611524 | Pontocerebellar hypoplasia, type 6 | AR |
REEP1 | 609139 | Spastic paraplegia 31, autosomal dominant | AD |
?Neuronopathy, distal hereditary motor, type VB | AD | ||
Spinal muscular atrophy, distal, autosomal recessive, 6 | - | ||
REEP2 | 609347 | ?Spastic paraplegia 72, autosomal recessive | AD, AR |
?Spastic paraplegia 72, autosomal dominant | AD, AR | ||
RMND1 | 614917 | Combined oxidative phosphorylation deficiency 11 | AR |
RNASEH1 | 604123 | Progressive external ophthalmoplegia with mitochondrial 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 | AR |
?COACH syndrome 3 | AR | ||
Meckel syndrome 5 | AR | ||
RRM2B | 604712 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | AR |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | AD | ||
Mitochondrial DNA depletion syndrome 8B (MNGIE type) | AR | ||
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | AR | ||
RTN2 | 603183 | Spastic paraplegia 12, autosomal dominant | AD |
RUBCN | 613516 | Spinocerebellar ataxia, autosomal recessive 15 | AR |
SACS | 604490 | Spastic ataxia, Charlevoix-Saguenay type | AR |
SAMD9L | 611170 | Ataxia-pancytopenia syndrome | AD |
Monosomy 7 myelodysplasia and leukemia syndrome 1 | AD | ||
Spinocerebellar ataxia 49 | AD | ||
SARS2 | 612804 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | AR |
SCN1A | 182389 | Epilepsy, generalized, with febrile seizures plus, type 2 | AD |
Migraine, familial hemiplegic, 3 | AD | ||
Developmental and epileptic encephalopathy 6B, non-Dravet | AD | ||
Febrile seizures, familial, 3A | AD | ||
Dravet syndrome | AD | ||
SCN2A | 182390 | Developmental and epileptic encephalopathy 11 | AD |
Seizures, benign familial infantile, 3 | AD | ||
Episodic ataxia, type 9 | AD | ||
SCO1 | 603644 | Mitochondrial complex IV deficiency, nuclear type 4 | AR |
SCO2 | 604272 | Myopia 6 | AD |
Mitochondrial complex IV deficiency, nuclear type 2 | AR | ||
SCYL1 | 607982 | Spinocerebellar ataxia, autosomal recessive 21 | AR |
SDHA | 600857 | Neurodegeneration with ataxia and late-onset optic atrophy | AD |
Cardiomyopathy, dilated, 1GG | AR | ||
Leigh syndrome | AR, Mitochondrial | ||
Mitochondrial respiratory chain complex II deficiency | AR | ||
Paragangliomas 5 | AD | ||
SDHAF1 | 612848 | Mitochondrial complex II deficiency, nuclear type 2 | AR |
Mitochondrial complex II deficiency | AR | ||
SELENOI | 607915 | Spastic paraplegia 81, autosomal recessive | AR |
SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | AR |
SETX | 608465 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | AR |
Amyotrophic lateral sclerosis 4, juvenile | 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 | AR |
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) | AR |
Microcephaly, Amish type | AR | ||
SLC25A26 | 611037 | Combined oxidative phosphorylation deficiency 28 | AR |
SLC25A3 | 600370 | Mitochondrial phosphate carrier deficiency | AR |
SLC25A38 | 610819 | Anemia, sideroblastic, 2, pyridoxine-refractory | AR |
SLC25A4 | 103220 | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR | AR |
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD | AD | ||
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | AD | ||
SLC25A46 | 610826 | Neuropathy, hereditary motor and sensory, type VIB | AR |
Pontocerebellar hypoplasia, type 1E | AR | ||
SLC2A1 | 138140 | GLUT1 deficiency syndrome 2, childhood onset | AD |
GLUT1 deficiency syndrome 1, infantile onset, severe | AD, AR | ||
Epilepsy, idiopathic generalized, susceptibility to, 12 | AD | ||
Stomatin-deficient cryohydrocytosis with neurologic defects | AD | ||
Dystonia 9 | AD | ||
SLC33A1 | 603690 | Congenital cataracts, hearing loss, and neurodegeneration | AR |
Spastic paraplegia 42, autosomal dominant | AD | ||
SLC52A2 | 607882 | Brown-Vialetto-Van Laere syndrome 2 | AR |
SLC52A3 | 613350 | ?Fazio-Londe disease | AR |
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, autosomal dominant | AD |
SPG11 | 610844 | Spastic paraplegia 11, autosomal recessive | AR |
Amyotrophic lateral sclerosis 5, juvenile | AR | ||
Charcot-Marie-Tooth disease, axonal, type 2X | AR | ||
SPG21 | 608181 | Mast syndrome | AR |
SPG7 | 602783 | Spastic paraplegia 7, autosomal recessive | AD, AR |
SPR | 182125 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
SPTBN2 | 604985 | Spinocerebellar ataxia, autosomal recessive 14 | AR |
Spinocerebellar ataxia 5 | AD | ||
STUB1 | 607207 | ?Spinocerebellar ataxia 48 | AD |
Spinocerebellar ataxia, autosomal recessive 16 | AR | ||
SUCLA2 | 603921 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | AR |
SUCLG1 | 611224 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | AR |
SURF1 | 185620 | Charcot-Marie-Tooth disease, type 4K | AR |
Mitochondrial complex IV deficiency, nuclear type 1 | AR | ||
SYNE1 | 608441 | Arthrogryposis multiplex congenita 3, myogenic type | AR |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant | AD | ||
Spinocerebellar ataxia, autosomal recessive 8 | AR | ||
TACO1 | 612958 | Mitochondrial complex IV deficiency, nuclear type 8 | AR |
TARS2 | 612805 | ?Combined oxidative phosphorylation deficiency 21 | AR |
TBC1D24 | 613577 | Deafness, autosomal dominant 65 | AD |
Deafness, autosomal recessive 86 | AR | ||
Myoclonic epilepsy, infantile, familial | AR | ||
Developmental and epileptic encephalopathy 16 | AR | ||
DOORS syndrome | AR | ||
Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp | AR | ||
TBP | 600075 | Spinocerebellar ataxia 17 | AD |
Parkinson disease, susceptibility to | AD, MF | ||
TCTN1 | 609863 | Joubert syndrome 13 | AR |
TCTN2 | 613846 | ?Meckel syndrome 8 | AR |
Joubert syndrome 24 | AR | ||
TCTN3 | 613847 | Joubert syndrome 18 | AR |
Orofaciodigital syndrome IV | AR | ||
TDP1 | 607198 | ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | AR |
TECPR2 | 615000 | Spastic paraplegia 49, autosomal recessive | AR |
TFG | 602498 | Hereditary motor and sensory neuropathy, Okinawa type | AD |
?Spastic paraplegia 57, autosomal recessive | AR | ||
TGM6 | 613900 | Spinocerebellar ataxia 35 | AD |
TIMM8A | 300356 | Mohr-Tranebjaerg syndrome | XLR |
TK2 | 188250 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | AR |
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | AR | ||
TMEM126B | 615533 | Mitochondrial complex I deficiency, nuclear type 29 | AR |
TMEM138 | 614459 | Joubert syndrome 16 | AR |
TMEM216 | 613277 | Meckel syndrome 2 | AR |
Joubert syndrome 2 | AR | ||
TMEM231 | 614949 | Joubert syndrome 20 | AR |
Meckel syndrome 11 | AR | ||
TMEM237 | 614423 | Joubert syndrome 14 | AR |
TMEM240 | 616101 | Spinocerebellar ataxia 21 | AD |
TMEM67 | 609884 | COACH syndrome 1 | AR |
?RHYNS syndrome | AR | ||
Meckel syndrome 3 | AR | ||
Joubert syndrome 6 | AR | ||
Bardet-Biedl syndrome 14, modifier of | AR | ||
Nephronophthisis 11 | AR | ||
TMEM70 | 612418 | Mitochondrial 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 | AR |
Spinocerebellar ataxia, autosomal recessive 7 | AR | ||
TRIM32 | 602290 | Muscular dystrophy, limb-girdle, autosomal recessive 8 | AR |
?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 | AR |
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 | AR |
?Pontocerebellar hypoplasia type 5 | AR | ||
Pontocerebellar hypoplasia type 4 | AR | ||
TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
TTBK2 | 611695 | Spinocerebellar ataxia 11 | AD |
TTC19 | 613814 | Mitochondrial complex III deficiency, nuclear type 2 | AR |
TTC8 | - | Bardet-Biedl syndrome 8 | AR |
?Retinitis pigmentosa 51 | AR | ||
TTPA | 600415 | Ataxia with isolated vitamin E deficiency | AR |
TTR | 176300 | [Dystransthyretinemic hyperthyroxinemia] | AD |
Carpal tunnel syndrome, familial | AD | ||
Amyloidosis, hereditary, transthyretin-related | AD | ||
TUBB4A | 602662 | Dystonia 4, torsion, autosomal dominant | AD |
Leukodystrophy, hypomyelinating, 6 | AD | ||
TUFM | 602389 | Combined oxidative phosphorylation deficiency 4 | AR |
TWNK | 606075 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | AD |
Perrault syndrome 5 | AR | ||
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | AR | ||
TYMP | 131222 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | AR |
UBA5 | 610552 | Developmental and epileptic encephalopathy 44 | AR |
?Spinocerebellar ataxia, autosomal recessive 24 | AR | ||
UBAP1 | 609787 | Spastic paraplegia 80, autosomal dominant | AD |
UBE3A | 601623 | Angelman syndrome | AD |
UBTF | 600673 | Neurodegeneration, childhood-onset, with brain atrophy | AD |
UCHL1 | 191342 | ?Parkinson disease 5, susceptibility to | AD |
Spastic paraplegia 79, autosomal recessive | AR | ||
UNC80 | 612636 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | AR |
UQCC2 | 614461 | Mitochondrial complex III deficiency, nuclear type 7 | AR |
UQCRB | 191330 | Mitochondrial complex III deficiency, nuclear type 3 | AR |
UQCRC2 | 191329 | Mitochondrial complex III deficiency, nuclear type 5 | AR |
UQCRQ | 612080 | Mitochondrial complex III deficiency, nuclear type 4 | AR |
USP8 | 603158 | Pituitary adenoma 4, ACTH-secreting, somatic | - |
VAMP1 | 185880 | Myasthenic syndrome, congenital, 25 | AR |
Spastic ataxia 1, autosomal dominant | AD | ||
VARS2 | 612802 | Combined oxidative phosphorylation deficiency 20 | AR |
VCP | 601023 | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 | AD |
Charcot-Marie-Tooth disease, type 2Y | AD | ||
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, autosomal recessive | AR |
VRK1 | 602168 | Pontocerebellar hypoplasia type 1A | AR |
WASHC5 | 610657 | Spastic paraplegia 8, autosomal dominant | AD |
Ritscher-Schinzel syndrome 1 | AR | ||
WDR45 | - | 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 | AR |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | AR | ||
WFS1 | 606201 | ?Cataract 41 | AD |
Wolfram-like syndrome, autosomal dominant | AD | ||
Wolfram syndrome 1 | AR | ||
Diabetes mellitus, noninsulin-dependent, association with | AD | ||
Deafness, autosomal dominant 6/14/38 | AD | ||
WWOX | 605131 | Esophageal squamous cell carcinoma, somatic | - |
Developmental and epileptic encephalopathy 28 | AR | ||
Spinocerebellar ataxia, autosomal recessive 12 | AR | ||
YARS2 | 610957 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | AR |
ZFYVE26 | 612012 | Spastic paraplegia 15, autosomal recessive | AR |
ZFYVE27 | 610243 | Spastic paraplegia 33, autosomal dominant | AD |
ZNF423 | 604557 | Joubert syndrome 19 | AD, AR |
Nephronophthisis 14 | AD, AR |
Ataxia repeat expansion panel
No. of genes: | 13 |
---|---|
TAT: | 25 business days |
Coverage: | ≥100.00% |
Details: |
Repeat expansion analysis: ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PPP2R2B, TBP
|
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: | 856 |
---|---|
TAT: | 15 business days |
Coverage: | ≥99.00% ≥20x |
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
AARS1 | 601065 | Trichothiodystrophy 8, nonphotosensitive | AR |
Charcot-Marie-Tooth disease, axonal, type 2N | AD | ||
Developmental and epileptic encephalopathy 29 | AR | ||
?Leukoencephalopathy, hereditary diffuse, with spheroids 2 | AD | ||
AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8 | AR |
Leukoencephalopathy, progressive, with ovarian failure | AR | ||
AASS | 605113 | Hyperlysinemia | AR |
ABAT | 137150 | GABA-transaminase deficiency | AR |
ABCA12 | 607800 | Ichthyosis, congenital, autosomal recessive 4A | AR |
Ichthyosis, congenital, autosomal recessive 4B (harlequin) | AR | ||
ABCA3 | 601615 | Surfactant metabolism dysfunction, pulmonary, 3 | AR |
ABCB11 | 603201 | Cholestasis, benign recurrent intrahepatic, 2 | AR |
Cholestasis, progressive familial intrahepatic 2 | AR | ||
ABCC8 | 600509 | Diabetes mellitus, transient neonatal 2 | - |
Diabetes mellitus, noninsulin-dependent | AD | ||
Hyperinsulinemic hypoglycemia, familial, 1 | AD, AR | ||
Hypoglycemia of infancy, leucine-sensitive | AD | ||
Diabetes mellitus, permanent neonatal 3, with or without neurologic features | AD, AR | ||
ABCD1 | 300371 | Adrenoleukodystrophy | XLR |
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 | Mitochondrial 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 | AR |
Infantile cerebellar-retinal degeneration | AR | ||
ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency | AR |
Mitchell syndrome | AD | ||
ACSF3 | 614245 | Combined malonic and methylmalonic aciduria | - |
ACTA1 | 102610 | Nemaline myopathy 3, autosomal dominant or recessive | AD, AR |
?Myopathy, scapulohumeroperoneal | AD | ||
Myopathy, congenital, with fiber-type disproportion 1 | AD, AR | ||
Myopathy, actin, congenital, with cores | AD, AR | ||
Myopathy, actin, congenital, with excess of thin myofilaments | AD, AR | ||
ACY1 | 104620 | Aminoacylase 1 deficiency | AR |
ADA | 608958 | Adenosine deaminase deficiency, partial | AR, Somatic mosaicism |
Severe combined immunodeficiency due to ADA deficiency | AR, Somatic mosaicism | ||
ADAMTS13 | 604134 | Thrombotic thrombocytopenic purpura, hereditary | AR |
ADAMTSL2 | 612277 | Geleophysic dysplasia 1 | AR |
ADAR | 146920 | Aicardi-Goutieres syndrome 6 | AR |
Dyschromatosis symmetrica hereditaria | 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 | AR |
Cataract 38, autosomal recessive | AR | ||
AGL | 610860 | Glycogen storage disease IIIb | AR |
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 | XLR |
Combined oxidative phosphorylation deficiency 6 | XLR | ||
Deafness, X-linked 5 | XLR | ||
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 | AD |
Hypoinsulinemic hypoglycemia with hemihypertrophy | AD | ||
ALAD | 125270 | Porphyria, acute hepatic | AR |
Lead poisoning, susceptibility to | AR | ||
ALAS2 | 301300 | Protoporphyria, erythropoietic, X-linked | XL |
Anemia, sideroblastic, 1 | XLR | ||
ALDH18A1 | 138250 | Cutis laxa, autosomal dominant 3 | AD |
Cutis laxa, autosomal recessive, type IIIA | AR | ||
Spastic paraplegia 9B, autosomal recessive | AR | ||
Spastic paraplegia 9A, autosomal dominant | 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 | XL |
Developmental and epileptic encephalopathy 36 | XL | ||
ALG14 | 612866 | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies | AR |
?Myasthenic syndrome, congenital, 15, without tubular aggregates | AR | ||
Myopathy, epilepsy, and progressive cerebral atrophy | AR | ||
ALG2 | 607905 | ?Congenital disorder of glycosylation, type Ii | AR |
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 | - | Polycystic liver disease 3 with or without kidney cysts | AD |
Congenital disorder of glycosylation, type Ih | AR | ||
ALG9 | 606941 | Congenital disorder of glycosylation, type Il | AR |
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 | AR |
Odontohypophosphatasia | AD, AR | ||
Hypophosphatasia, childhood | AR | ||
Hypophosphatasia, adult | AD, AR | ||
ALS2 | 606352 | Amyotrophic lateral sclerosis 2, juvenile | AR |
Spastic paralysis, infantile onset ascending | AR | ||
Primary lateral sclerosis, juvenile | AR | ||
AMACR | 604489 | Bile acid synthesis defect, congenital, 4 | AR |
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 | AD |
GAPO syndrome | AR | ||
ANTXR2 | - | Hyaline fibromatosis syndrome | AR |
AP2S1 | 602242 | Hypocalciuric hypercalcemia, type III | AD |
AP4B1 | 607245 | Spastic paraplegia 47, autosomal recessive | AR |
AP4E1 | 607244 | Stuttering, familial persistent, 1 | AD |
Spastic paraplegia 51, autosomal recessive | AR | ||
AP4M1 | 602296 | Spastic paraplegia 50, autosomal recessive | AR |
AP4S1 | 607243 | Spastic paraplegia 52, autosomal recessive | AR |
APOB | 107730 | Hypobetalipoproteinemia | AR |
Hypercholesterolemia, familial, 2 | AD | ||
APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
ARG1 | 608313 | Argininemia | AR |
ARL6 | 608845 | Retinitis pigmentosa 55 | AR |
Bardet-Biedl syndrome 1, modifier of | AR, DR | ||
Bardet-Biedl syndrome 3 | AR | ||
ARSA | 607574 | Metachromatic leukodystrophy | AR |
ARSB | 611542 | Mucopolysaccharidosis type VI (Maroteaux-Lamy) | AR |
ARX | 300382 | Developmental and epileptic encephalopathy 1 | XLR |
Mental retardation, X-linked 29 and others | XLR | ||
Hydranencephaly with abnormal genitalia | XL | ||
Partington syndrome | XLR | ||
Lissencephaly, X-linked 2 | XL | ||
Proud syndrome | XL | ||
ASAH1 | 613468 | Spinal muscular atrophy with progressive myoclonic epilepsy | AR |
Farber lipogranulomatosis | AR | ||
ASL | 608310 | Argininosuccinic aciduria | AR |
ASNS | 108370 | Asparagine synthetase deficiency | AR |
ASPA | 608034 | Canavan disease | AR |
ASPM | 605481 | Microcephaly 5, primary, autosomal recessive | AR |
ASS1 | 603470 | Citrullinemia | AR |
ATIC | 601731 | AICA-ribosiduria due to ATIC deficiency | AR |
ATP1A3 | 182350 | Alternating hemiplegia of childhood 2 | AD |
Dystonia-12 | AD | ||
Developmental and epileptic encephalopathy 99 | AD | ||
CAPOS syndrome | AD | ||
ATP6V0A2 | 611716 | Cutis laxa, autosomal recessive, type IIA | AR |
Wrinkly skin syndrome | AR | ||
ATP6V1B1 | 192132 | Distal renal tubular acidosis 2 with progressive sensorineural hearing loss | AR |
ATP7A | 300011 | Menkes disease | XLR |
Occipital horn syndrome | XLR | ||
Spinal muscular atrophy, distal, X-linked 3 | XLR | ||
ATP7B | 606882 | Wilson disease | AR |
ATP8B1 | 602397 | Cholestasis, progressive familial intrahepatic 1 | AR |
Cholestasis, intrahepatic, of pregnancy, 1 | AD | ||
Cholestasis, benign recurrent intrahepatic | AR | ||
ATPAF2 | 608918 | ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | AR |
ATR | 601215 | ?Cutaneous telangiectasia and cancer syndrome, familial | AD |
Seckel syndrome 1 | AR | ||
ATRX | 300032 | Mental retardation-hypotonic facies syndrome, X-linked | XLR |
Alpha-thalassemia/mental retardation syndrome | XLD | ||
Alpha-thalassemia myelodysplasia syndrome, somatic | - | ||
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 | AR |
Bjornstad syndrome | AR | ||
Mitochondrial complex III deficiency, nuclear type 1 | AR | ||
BICD2 | 609797 | Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | AD |
Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | AD | ||
BIN1 | 601248 | Centronuclear myopathy 2 | AR |
BLNK | 604515 | ?Agammaglobulinemia 4 | AR |
BOLA3 | 613183 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | AR |
BRAF | 164757 | Cardiofaciocutaneous syndrome | AD |
Adenocarcinoma of lung, somatic | - | ||
Noonan syndrome 7 | AD | ||
Colorectal cancer, somatic | - | ||
Melanoma, malignant, somatic, | - | ||
LEOPARD syndrome 3 | AD | ||
BRAT1 | 614506 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | AR |
Rigidity and multifocal seizure syndrome, lethal neonatal | AR | ||
BRCA2 | 600185 | Prostate cancer | AD, SM |
Breast-ovarian cancer, familial, 2 | AD | ||
Glioblastoma 3 | AR | ||
Wilms tumor | AD, SM | ||
Pancreatic cancer 2 | - | ||
Breast cancer, male, susceptibility to | AD, SM | ||
Fanconi anemia, complementation group D1 | AR | ||
Medulloblastoma | AD, AR, SM | ||
BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2 | AR |
Encephalopathy, progressive, with or without lipodystrophy | AR | ||
Silver spastic paraplegia syndrome | AD | ||
Neuropathy, distal hereditary motor, type VC | AD | ||
BSND | 606412 | Bartter syndrome, type 4a | AR |
Sensorineural deafness with mild renal dysfunction | AR | ||
BTD | 609019 | Biotinidase deficiency | AR |
BTK | 300300 | Agammaglobulinemia, X-linked 1 | XLR |
Isolated growth hormone deficiency, type III, with agammaglobulinemia | XLR | ||
CA12 | 603263 | Hyperchlorhidrosis, isolated | AR |
CACNA1C | 114205 | Long QT syndrome 8 | AD |
Brugada syndrome 3 | - | ||
Timothy syndrome | AD | ||
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | - | ||
CACNB2 | 600003 | Brugada syndrome 4 | - |
CALM1 | 114180 | Long QT syndrome 14 | AD |
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 | XLD | ||
FG syndrome 4 | - | ||
CASR | 601199 | Epilepsy idiopathic generalized, susceptibility to, 8 | - |
Hypocalcemia, autosomal dominant, with Bartter syndrome | AD | ||
Hypocalciuric hypercalcemia, type I | AD | ||
Hyperparathyroidism, neonatal | AD, AR | ||
Hypocalcemia, autosomal dominant | AD | ||
CAST | 114090 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | AR |
CAV1 | 601047 | Pulmonary hypertension, primary, 3 | AD |
Lipodystrophy, familial partial, type 7 | AD | ||
?Lipodystrophy, congenital generalized, type 3 | AR | ||
CAV3 | 601253 | Rippling muscle disease 2 | AD |
Cardiomyopathy, familial hypertrophic | AD, DD | ||
Creatine phosphokinase, elevated serum | AD | ||
Long QT syndrome 9 | AD | ||
Myopathy, distal, Tateyama type | AD | ||
CAVIN1 | 603198 | Lipodystrophy, congenital generalized, type 4 | AR |
CBS | 613381 | Thrombosis, hyperhomocysteinemic | AR |
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 | AR |
CD3D | 186790 | Immunodeficiency 19 | AR |
CD3E | 186830 | Immunodeficiency 18, SCID variant | AR |
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 |
CDK5RAP2 | 608201 | Microcephaly 3, primary, autosomal recessive | AR |
CDKL5 | 300203 | Developmental and epileptic encephalopathy 2 | XLD |
CDKN1C | 600856 | IMAGE syndrome | AD |
Beckwith-Wiedemann syndrome | AD | ||
CENPJ | 609279 | ?Seckel syndrome 4 | AR |
Microcephaly 6, primary, autosomal recessive | AR | ||
CEP152 | 613529 | Microcephaly 9, primary, autosomal recessive | AR |
Seckel syndrome 5 | AR | ||
CEP290 | 610142 | Leber congenital amaurosis 10 | - |
Meckel syndrome 4 | AR | ||
?Bardet-Biedl syndrome 14 | AR | ||
Senior-Loken syndrome 6 | AR | ||
Joubert syndrome 5 | AR | ||
CERS3 | 615276 | Ichthyosis, congenital, autosomal recessive 9 | AR |
CFAP298 | 615494 | Ciliary dyskinesia, primary, 26 | AR |
CFH | 134370 | Basal laminar drusen | AD |
Macular degeneration, age-related, 4 | - | ||
Hemolytic uremic syndrome, atypical, susceptibility to, 1 | AD, AR | ||
Complement factor H deficiency | AD, AR | ||
CFHR3 | 605336 | Macular degeneration, age-related, reduced risk of | AD |
Hemolytic uremic syndrome, atypical, susceptibility to | AD, AR | ||
CFL2 | - | Nemaline myopathy 7, autosomal recessive | AR |
CFTR | 602421 | Congenital bilateral absence of vas deferens | AR |
Pancreatitis, hereditary | AD | ||
Bronchiectasis with or without elevated sweat chloride 1, modifier of | AD | ||
Cystic fibrosis | AR | ||
CHAT | 118490 | Myasthenic syndrome, congenital, 6, presynaptic | AR |
CHD7 | 608892 | CHARGE syndrome | AD |
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 | AD, AR |
Myasthenic syndrome, congenital, 1A, slow-channel | AD | ||
Multiple pterygium syndrome, lethal type | AR | ||
CHRNB1 | 100710 | Myasthenic syndrome, congenital, 2A, slow-channel | AD |
?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency | AR | ||
CHRND | 100720 | ?Myasthenic syndrome, congenital, 3A, slow-channel | AD |
Myasthenic syndrome, congenital, 3B, fast-channel | AR | ||
Multiple pterygium syndrome, lethal type | AR | ||
?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency | AR | ||
CHRNE | 100725 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | AR |
Myasthenic syndrome, congenital, 4A, slow-channel | AD, AR | ||
Myasthenic syndrome, congenital, 4B, fast-channel | AR | ||
CLCN1 | 118425 | Myotonia congenita, dominant | AD |
Myotonia congenita, recessive | AR | ||
CLCNKA | 602024 | Bartter syndrome, type 4b, digenic | DR |
CLCNKB | 602023 | Bartter syndrome, type 3 | AR |
Bartter syndrome, type 4b, digenic | DR | ||
CLDN16 | 603959 | Hypomagnesemia 3, renal | AR |
CLN3 | 607042 | Ceroid lipofuscinosis, neuronal, 3 | AR |
CLN5 | - | Ceroid lipofuscinosis, neuronal, 5 | AR |
CLN6 | 606725 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset | AR |
Ceroid lipofuscinosis, neuronal, 6 | AR | ||
CLN8 | 607837 | Ceroid lipofuscinosis, neuronal, 8 | AR |
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant | AR | ||
CLPB | 616254 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia | AR |
3-methylglutaconic aciduria, type VIIA, autosomal dominant | AD | ||
Neutropenia, severe congenital, 9, autosomal dominant | AD | ||
CNTN1 | 600016 | ?Myopathy, congenital, Compton-North | AR |
COA5 | 613920 | ?Mitochondrial complex IV, deficiency, nuclear type 9 | AR |
COG1 | 606973 | Congenital disorder of glycosylation, type IIg | AR |
COG6 | 606977 | Shaheen syndrome | AR |
Congenital disorder of glycosylation, type IIl | AR | ||
COG7 | 606978 | Congenital disorder of glycosylation, type IIe | AR |
COL11A1 | 120280 | Marshall syndrome | AD |
Fibrochondrogenesis 1 | AR | ||
Lumbar disc herniation, susceptibility to | - | ||
?Deafness, autosomal dominant 37 | AD | ||
Stickler syndrome, type II | AD | ||
COL17A1 | 113811 | Epithelial recurrent erosion dystrophy | AD |
Epidermolysis bullosa, junctional, localisata variant | AR | ||
Epidermolysis bullosa, junctional, non-Herlitz type | AR | ||
Epidermolysis bullosa, junctional 4, intermediate | - | ||
COL1A1 | 120150 | Ehlers-Danlos syndrome, arthrochalasia type, 1 | AD |
Bone mineral density variation QTL, osteoporosis | AD | ||
Osteogenesis imperfecta, type III | AD | ||
Osteogenesis imperfecta, type I | AD | ||
Caffey disease | AD | ||
Osteogenesis imperfecta, type IV | AD | ||
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | AD | ||
Osteogenesis imperfecta, type II | AD | ||
COL1A2 | 120160 | Osteoporosis, postmenopausal | AD |
Ehlers-Danlos syndrome, cardiac valvular type | AR | ||
Ehlers-Danlos syndrome, arthrochalasia type, 2 | AD | ||
Osteogenesis imperfecta, type III | AD | ||
Osteogenesis imperfecta, type IV | AD | ||
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | AD | ||
Osteogenesis imperfecta, type II | AD | ||
COL2A1 | 120140 | Legg-Calve-Perthes disease | AD |
Stickler syndrome, type I | AD | ||
Osteoarthritis with mild chondrodysplasia | AD | ||
Platyspondylic skeletal dysplasia, Torrance type | AD | ||
Spondyloepiphyseal dysplasia, Stanescu type | AD | ||
Kniest dysplasia | AD | ||
Czech dysplasia | AD | ||
Stickler sydrome, type I, nonsyndromic ocular | AD | ||
?Vitreoretinopathy with phalangeal epiphyseal dysplasia | AD | ||
?Epiphyseal dysplasia, multiple, with myopia and deafness | AD | ||
Avascular necrosis of the femoral head | AD | ||
Spondyloperipheral dysplasia | AD | ||
Achondrogenesis, type II or hypochondrogenesis | AD | ||
SMED Strudwick type | AD | ||
SED congenita | AD | ||
COL3A1 | 120180 | Ehlers-Danlos syndrome, vascular type | AD |
Polymicrogyria with or without vascular-type EDS | AR | ||
COL5A2 | 120190 | Ehlers-Danlos syndrome, classic type, 2 | AD |
COL6A1 | 120220 | Bethlem myopathy 1 | AD, AR |
Ullrich congenital muscular dystrophy 1 | AD, AR | ||
COL6A2 | 120240 | Bethlem myopathy 1 | AD, AR |
Ullrich congenital muscular dystrophy 1 | AD, AR | ||
?Myosclerosis, congenital | AR | ||
COL6A3 | 120250 | Dystonia 27 | AR |
Ullrich congenital muscular dystrophy 1 | AD, AR | ||
Bethlem myopathy 1 | AD, AR | ||
COL7A1 | 120120 | Epidermolysis bullosa dystrophica, AR | AR |
Epidermolysis bullosa dystrophica, AD | AD | ||
Epidermolysis bullosa pruriginosa | AD, AR | ||
Transient bullous of the newborn | AD, AR | ||
Epidermolysis bullosa, pretibial | AD, AR | ||
Toenail dystrophy, isolated | AD | ||
EBD, Bart type | AD | ||
EBD inversa | AR | ||
COLQ | 603033 | Myasthenic syndrome, congenital, 5 | AR |
COMP | 600310 | Carpal tunnel syndrome 2 | AD |
Epiphyseal dysplasia, multiple, 1 | AD | ||
Pseudoachondroplasia | AD | ||
COQ2 | 609825 | Coenzyme Q10 deficiency, primary, 1 | AR |
Multiple system atrophy, susceptibility to | 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 | Mitochondrial complex IV deficiency, nuclear type 3 | AR |
COX15 | 603646 | Mitochondrial complex IV deficiency, nuclear type 6 | AR |
COX20 | 614698 | Mitochondrial complex IV deficiency, nuclear type 11 | AR |
COX6B1 | 124089 | Mitochondrial complex IV deficiency, nuclear type 7 | AR |
CPS1 | 608307 | Carbamoylphosphate synthetase I deficiency | AR |
Pulmonary hypertension, neonatal, susceptibility to | - | ||
CPT1A | 600528 | CPT deficiency, hepatic, type IA | AR |
CPT2 | 600650 | CPT II deficiency, myopathic, stress-induced | AD, AR |
CPT II deficiency, infantile | AR | ||
Encephalopathy, acute, infection-induced, 4, susceptibility to | AD, AR | ||
CPT II deficiency, lethal neonatal | AR | ||
CR2 | 120650 | Immunodeficiency, common variable, 7 | AR |
Systemic lupus erythematosus, susceptibility to, 9 | - | ||
CRPPA | 614631 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | AR |
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 | AR |