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Clear diagnosis with genetic testing is the basis of effective treatment and management for many disorders of the brain and nervous system. Serving as an invaluable tool, genetic testing enables the identification of inherited neurological conditions, such as delayed mental development, neurodegeneration, learning disabilities, movement disorders, and muscle control. With knowledge of variants associated with neurological diseases in more than 1,850 genes, our vast knowledge and diagnostic expertise can help you diagnose your patients quickly and comprehensively.
- Ataxia panel
- Ataxia comprehensive panel
- Ataxia repeat expansion panel
- Amyotrophic lateral sclerosis (ALS) panel
- CentoICU®
- CentoMito® Comprehensive
- CentoMito® Genome
- CentoNeuroTM
- Ciliopathies panel
- Dementia panel
- Dystonia panel
- Epilepsy panel
- Intellectual disability panel
- Neuromuscular panel
- Parkinson’s disease panel
- Spastic paraplegia panel
Ataxia panel
Our ataxia panel includes genes relevant to hereditary neurological disorders characterized by ataxia, including spinocerebellar ataxia (dominant and recessive), cerebellar ataxia, episodic ataxia, and pontocerebellar ataxia. These disorders normally share overlapping symptoms and can only be clearly differentiated by molecular genetic testing. Our ataxia panel is the best option for a patient displaying gait imbalance and uncoordinated walking (ataxia). The most common forms of inherited ataxia are caused by repeat expansion.
No. of genes: | 186 |
TAT: | 25 days |
Coverage: | ≥99.5% ≥20x |
Details: | Next-generation sequencing with CNV analysis included |
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
ABCB7 | 300135 | Anemia, Sideroblastic, and Spinocerebellar Ataxia | XLR |
ABHD12 | 613599 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | AR |
ABHD5 | 604780 | Chanarin-Dorfman syndrome | AR |
ACADVL | 609575 | very long chain acyl-CoA dehydrogenase deficiency | AR |
ACO2 | 100850 | Infantile cerebellar-retinal degeneration | AR |
AFG3L2 | 604581 | spinocerebellar ataxia 28; spastic ataxia 5 | AD, AR |
AHI1 | 608894 | Joubert syndrome 3 | AR |
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
AMACR | 604489 | Alpha-methylacyl-CoA racemase deficiency | AR |
ANO10 | 613726 | autosomal recessive spinocerebellar ataxia 10 | AR |
AP1S2 | 300629 | Pettigrew syndrome | XLR |
APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
ARL13B | 608922 | Joubert syndrome 8 | AR |
ARL6 | 608845 | Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | AR, DiR |
ARSA | 607574 | metachromatic leukodystrophy | AR |
ATCAY | 608179 | Ataxia, cerebellar, Cayman type | AR |
ATM | 607585 | familial breast-ovarian cancer type 2; ataxia-telangiectasia | AD, AR |
ATN1 | 607462 | Dentatorubro-pallidoluysian atrophy; congenital hypotonia, epilepsy, developmental delay, and digital anomalies | AD |
ATP13A2 | 610513 | Kufor-Rakeb syndrome; spastic paraplegia type 78 | AR |
ATP1A3 | 182350 | Dystonia 12; Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; Alternating hemiplegia of childhood 2 | AD |
ATP2B3 | 300014 | spinocerebellar ataxia, X-linked 1 | XLR |
ATP8A2 | 605870 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | AR |
B9D1 | 614144 | Meckel Syndrome, Type 9 | AR |
BBS1 | 209901 | Bardet-Biedl syndrome type 1 | AR, DiR |
BBS12 | 610683 | Bardet-Biedl syndrome type 12 | AR |
BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy, progressive, with or without lipodystrophy | AD, AR |
BTD | 609019 | biotinidase deficiency | AR |
C12orf65 | 613541 | Combined oxidative phosphorylation deficiency 7 | AR |
C19orf12 | 614297 | neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 | AD, AR |
CA8 | 114815 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 | AR |
CACNA1A | 601011 | episodic ataxia type 2; familial hemiplegic migraine 1; spinocerebellar ataxia 6; early infantile epileptic encephalopathy, 42 | AD |
CACNB4 | 601949 | Epilepsy, Idiopathic Generalized, Susceptibility To, 9; Episodic ataxia, type 5 | AD |
CAMTA1 | 611501 | Cerebellar ataxia, nonprogressive, with mental retardation | AD |
CASK | 300172 | Fg Syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia | XLD |
CC2D2A | 612013 | COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 | AR |
CCDC88C | 611204 | Hydrocephalus, nonsyndromic, autosomal recessive 1; spinocerebellar ataxia type 40 | AD, AR |
CEP290 | 610142 | Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14 | AR |
CEP41 | 610523 | Joubert syndrome 15 | AR |
CHMP1A | 164010 | pontocerebellar hypoplasia 8 | AR |
CLCN2 | 600570 | Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Leukoencephalopathy with ataxia | AD, AR |
CLN5 | 608102 | neuronal ceroid lipofuscinosis type 5 | AR |
CLN6 | 606725 | adulte onset neuronal ceroid lipofuscinosis, Kufs type; neuronal ceroid lipofuscinosis type 6 | AR |
CLPP | 601119 | Perrault syndrome 3 | AR |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12 | AR |
COQ2 | 609825 | Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1 | AD, AR |
COQ8A | 606980 | primary Coenzyme Q10 deficiency type 4 - COQ10D4 | AR |
COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
COX20 | 614698 | Mitochondrial complex IV deficiency | AR, M |
CP | 117700 | aceruloplasminemia | AR |
CPLANE1 | 614571 | oral-facial-digital syndrome 6; Joubert syndrome 17 | AR |
CSPP1 | 611654 | Joubert syndrome 21 | AR |
CWF19L1 | 616120 | autosomal recessive spinocerebellar ataxia 17 | AR |
CYP27A1 | 606530 | cerebrotendinous xanthomatosis | AR |
DARS2 | 610956 | leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
DNAJC19 | 608977 | 3-methylglutaconic aciduria, type 5 | AR |
DNAJC5 | 611203 | neuronal ceroid lipofuscinosis type 4, Parry type | AD |
DNMT1 | 126375 | cerebellar ataxia, deafness and narcolepsy; Neuropathy, hereditary sensory, type IE | AD |
EIF2B1 | 606686 | leukoencephaly with vanishing white matter | AR |
EIF2B2 | 606454 | leukoencephaly with vanishing white matter | AR |
EIF2B3 | 606273 | leukoencephaly with vanishing white matter | AR |
EIF2B4 | 606687 | leukoencephaly with vanishing white matter | AR |
EIF2B5 | 603945 | leukoencephaly with vanishing white matter | AR |
ELOVL4 | 605512 | Spinocerebellar ataxia 34; Stargardt disease 3; Ichthyosis, spastic quadriplegia, and mental retardation | AD, AR |
ELOVL5 | 611805 | spinocerebellar ataxia 38 | AD |
EXOSC3 | 606489 | pontocerebellar hypoplasia type 1B | AR |
FA2H | 611026 | spastic paraplegia 35 | AR |
FBXL4 | 605654 | mitochondrial DNA depletion syndrome 13 | AR |
FGF14 | 601515 | spinocerebellar ataxia 27 | AD |
FLVCR1 | 609144 | Ataxia, posterior column, with retinitis pigmentosa | AR |
FTL | 134790 | Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 | AD, AR |
FXN | 606829 | Friedreich ataxia | AR |
GALC | 606890 | Krabbe disease | AR |
GBA | 606463 | Lewy body dementia; Susceptibility to late-onset Parkinson disease; Gaucher disease type 1; Gaucher disease type 2 (acute); Gaucher disease type 3 (subacute/ chronic); Gaucher disease, cardiovascular form; Gaucher disease, perinatal-lethal form | AD, AR |
GBA2 | 609471 | spastic paraplegia 46 | AR |
GFAP | 137780 | Alexander disease | AD |
GJB1 | 304040 | Charcot-Marie-Tooth disease type 1 | XLD |
GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2; spastic paraplegia 44 | AD, AR |
GOSR2 | 604027 | Epilepsy, progressive myoclonic 6 | AR |
GRID2 | 602368 | autosomal recessive spinocerebellar ataxia 18 | AR |
GRM1 | 604473 | autosomal recessive spinocerebellar ataxia 13; Spinocerebellar ataxia type 44 | AD, AR |
GSS | 601002 | Glutathione synthetase deficiency | AR |
HEPACAM | 611642 | megalencephalic leukoencephalopathy with subcortical cysts type 2A; megalencephalic leukoencephalopathy with subcortical cysts type 2B, remitting, with or without mental retardation | AD, AR |
HEXB | 606873 | Sandhoff disease | AR |
HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
INPP5E | 613037 | Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
ITM2B | 603904 | Cerebral amyloid angiopathy, itm2b-related, 2; Cerebral amyloid angiopathy, itm2b-related, 1 | AD |
ITPR1 | 147265 | spinocerebellar ataxia 29; Gillespie syndrome; spinocerebellar ataxia 15 | AD, AR |
KCNA1 | 176260 | Episodic ataxia/myokymia syndrome | AD |
KCNC3 | 176264 | spinocerebellar ataxia 13 | AD |
KCND3 | 605411 | spinocerebellar ataxia 19 | AD |
KCNJ10 | 602208 | autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance | AR |
KIF1A | 601255 | spastic paraplegia 30; Neuropathy, hereditary sensory, type IIC; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 | AD, AR |
KIF1C | 603060 | Spastic ataxia 2, autosomal recessive | AR |
KIF5A | 602821 | spastic paraplegia 10; Neonatal intractable myoclonus | AD |
KIF7 | 611254 | Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 | AR |
LAMA1 | 150320 | Poretti-Boltshauser syndrome | AR |
LMNB1 | 150340 | Leukodystrophy, adult-onset, autosomal dominant | AD |
LRPPRC | 607544 | Leigh syndrome, French-Canadian type | AR |
MARS2 | 609728 | AR | |
MKS1 | 609883 | Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 | AR |
MLC1 | 605908 | megalencephalic leukoencephalopathy with subcortical cysts type 1 | AR |
MRE11 | 600814 | Ataxia-telangiectasia-like disorder type 1 | AR |
MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15 | AR |
MTPAP | 613669 | AR | |
MTTP | 157147 | Abetalipoproteinemia; protection against metabolic syndrome | AD, AR |
NDUFAF6 | 612392 | AR | |
NDUFS1 | 157655 | AR | |
NDUFS2 | 602985 | AR | |
NDUFS4 | 602694 | mitochondrial complex I deficiency | AR |
NDUFS7 | 601825 | Mitochondrial complex I deficiency, nuclear type 3 | AR |
NDUFV1 | 161015 | AR | |
NPC1 | 607623 | Niemann-Pick disease type C/D | AR |
NPC2 | 601015 | Niemann-Pick disease type C2 | AR |
NPHP1 | 607100 | nephronophthisis 1; Joubert syndrome 4 | AR |
NUBPL | 613621 | AR | |
OFD1 | 300170 | Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 | XLD, XLR |
OPA1 | 605290 | Optic atrophy plus syndrome; optic atrophy type 1; Behr syndrome; Glaucoma, normal tension, susceptibility to; Mitochondrial DNA depletion syndrome 14 | AD, AR |
OPA3 | 606580 | Optic atrophy type 3 with cataract; 3-methylglutaconic aciduria type III | AD, AR |
OPHN1 | 300127 | X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance | XLR |
PANK2 | 606157 | neurodegeneration with brain iron accumulation type 1; HARP syndrome | AR |
PAX6 | 607108 | Aniridia 1; foveal hypoplasia type 1 | AD |
PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
PDSS1 | 607429 | Coenzyme Q10 deficiency, primary, 2 | AR |
PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
PDYN | 131340 | spinocerebellar ataxia 23 | AD |
PEX10 | 602859 | peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B | AR |
PEX2 | 170993 | peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B | AR |
PEX7 | 601757 | Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) | AR |
PHYH | 602026 | Refsum disease | AR |
PLA2G6 | 603604 | infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 | AR |
PLP1 | 300401 | Pelizaeus-Merzbacher disease; spastic paraplegia 2 | XLR |
PNKD | 609023 | dystonia 8 | AD |
PNKP | 605610 | type 2B2 Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 10 | AR |
PNPLA6 | 603197 | Boucher-Neuhauser syndrome; spastic paraplegia 39 | AR |
POLG | 174763 | progressive external ophthalmoplegia; mitochondrial DNA depletion syndrome type 4A; autosomal recessive progressive external ophthalmoplegia; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; mitochondrial DNA depletion syndrome type 4B | AD, AR |
POLR3A | 614258 | hypomyelinating leukodystrophy-7 | AR |
POLR3B | 614366 | hypomyelinating leukodystrophy-8 | AR |
PRICKLE1 | 608500 | Epilepsy, progressive myoclonic 1B | AR |
PRKCG | 176980 | spinocerebellar ataxia 14 | AD |
PRRT2 | 614386 | Episodic kinesigenic dyskinesia 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2 | AD |
RARS2 | 611524 | pontocerebellar hypoplasia type 6 | AR |
RPGRIP1L | 610937 | COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 | AR |
RRM2B | 604712 | mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | AD, AR |
RUBCN | 613516 | autosomal recessive spinocerebellar ataxia 15 | AR |
SACS | 604490 | spastic ataxia of Charlevoix-Saguenay | AR |
SCN2A | 182390 | benign familial neonatal-infantile seizures type 3; early infantile epileptic encephalopathy 11 | AD |
SETX | 608465 | amyotrophic lateral sclerosis 4; autosomal recessive spinocerebellar ataxia 1 | AD, AR |
SIL1 | 608005 | Marinesco-Sjogren syndrome | AR |
SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
SLC17A5 | 604322 | infantile sialic acid storage disorder; Salla disease | AR |
SLC1A3 | 600111 | episodic ataxia type 6 | AD |
SLC20A2 | 158378 | Basal ganglia calcification, idiopathic, 1 | AD |
SLC25A46 | 610826 | Neuropathy, hereditary motor and sensory, type VIB | AR |
SLC2A1 | 138140 | Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12 | AD, AR |
SLC52A3 | 613350 | Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1 | AR |
SLC9A6 | 300231 | Christianson type of X-linked syndromic mental retardation | XLD |
SPG11 | 610844 | Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X | AR |
SPG7 | 602783 | spastic paraplegia 7 | AD, AR |
SPR | 182125 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
SPTBN2 | 604985 | spinocerebellar ataxia 5; autosomal recessive spinocerebellar ataxia 14 | AD, AR |
STUB1 | 607207 | autosomal recessive spinocerebellar ataxia 16; ?Spinocerebellar ataxia 48 | AD, AR |
SYNE1 | 608441 | autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 | AD, AR |
TCTN2 | 613846 | Meckel syndrome 8; Joubert syndrome type 24 | AR |
TGM6 | 613900 | spinocerebellar ataxia 35 | AD |
TMEM216 | 613277 | Meckel Syndrome type 2; Joubert syndrome type 2 | AR |
TMEM237 | 614423 | Joubert syndrome 14 | AR |
TMEM240 | 616101 | spinocerebellar ataxia 21 | AD |
TMEM67 | 609884 | COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 | AR |
TPP1 | 607998 | neuronal ceroid lipofuscinosis type 2; autosomal recessive spinocerebellar ataxia type 7 | AR |
TSEN2 | 608753 | pontocerebellar hypoplasia type 2B | AR |
TSEN34 | 608754 | pontocerebellar hypoplasia type 2C | AR |
TSEN54 | 608755 | pontocerebellar hypoplasia type 4; pontocerebellar hypoplasia type 2A; pontocerebellar hypoplasia type 5 | AR |
TTBK2 | 611695 | spinocerebellar ataxia 11 | AD |
TTC19 | 613814 | nuclear mitochondrial complex III deficiency type 2 | AR |
TTPA | 600415 | ataxia with vitamin E deficiency | AR |
TUBB4A | 602662 | dystonia 4; hypomyelinating leukodystrophy-6 | AD |
TWNK | 606075 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3 | AD, AR |
UBA5 | 610552 | early infantile epileptic encephalopathy, 44 | AR |
VAMP1 | 185880 | Spastic ataxia 1, autosomal dominant; Myasthenic syndrome, congenital, 25 | AD, AR |
VLDLR | 192977 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome | AR |
VRK1 | 602168 | pontocerebellar hypoplasia type 1A | AR |
WDR81 | 614218 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | AR |
WFS1 | 606201 | congenital nuclear cataract type 41; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome | AD, AR |
WWOX | 605131 | Esophageal cancer, somatic; autosomal recessive spinocerebellar ataxia 12; early infantile epileptic encephalopathy 28 | AR |
ZFYVE26 | 612012 | spastic paraplegia type 15 | AR |
Ataxia comprehensive panel
No. of genes: | 196 |
TAT: | 25 days |
Coverage: | ≥99.5% ≥20x |
Details: | Next-generation sequencing with CNV and repeat expansion analysis included |
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
ABCB7 | 300135 | Anemia, Sideroblastic, and Spinocerebellar Ataxia | XLR |
ABHD12 | 613599 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | AR |
ABHD5 | 604780 | Chanarin-Dorfman syndrome | AR |
ACADVL | 609575 | very long chain acyl-CoA dehydrogenase deficiency | AR |
ACO2 | 100850 | Infantile cerebellar-retinal degeneration | AR |
AFG3L2 | 604581 | spinocerebellar ataxia 28; spastic ataxia 5 | AD, AR |
AHI1 | 608894 | Joubert syndrome 3 | AR |
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
AMACR | 604489 | Alpha-methylacyl-CoA racemase deficiency | AR |
ANO10 | 613726 | autosomal recessive spinocerebellar ataxia 10 | AR |
AP1S2 | 300629 | Pettigrew syndrome | XLR |
APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
ARL13B | 608922 | Joubert syndrome 8 | AR |
ARL6 | 608845 | Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | AR, DiR |
ARSA | 607574 | metachromatic leukodystrophy | AR |
ATCAY | 608179 | Ataxia, cerebellar, Cayman type | AR |
ATM | 607585 | familial breast-ovarian cancer type 2; ataxia-telangiectasia | AD, AR |
ATN1 | 607462 | Dentatorubro-pallidoluysian atrophy; congenital hypotonia, epilepsy, developmental delay, and digital anomalies | AD |
ATP13A2 | 610513 | Kufor-Rakeb syndrome; spastic paraplegia type 78 | AR |
ATP1A3 | 182350 | Dystonia 12; Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; Alternating hemiplegia of childhood 2 | AD |
ATP2B3 | 300014 | spinocerebellar ataxia, X-linked 1 | XLR |
ATP8A2 | 605870 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | AR |
ATXN1 | 601556 | spinocerebellar ataxia 1 | AD |
ATXN10 | 611150 | spinocerebellar ataxia 10 | AD |
ATXN2 | 601517 | Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 2 | AD |
ATXN3 | 607047 | spinocerebellar ataxia 3 | AD |
ATXN7 | 607640 | spinocerebellar ataxia 7 | AD |
ATXN8OS | 603680 | Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 8 | AD |
B9D1 | 614144 | Meckel Syndrome, Type 9 | AR |
BBS1 | 209901 | Bardet-Biedl syndrome type 1 | AR, DiR |
BBS12 | 610683 | Bardet-Biedl syndrome type 12 | AR |
BEAN1 | 612051 | spinocerebellar ataxia 31 | AD |
BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy, progressive, with or without lipodystrophy | AD, AR |
BTD | 609019 | biotinidase deficiency | AR |
C12orf65 | 613541 | Combined oxidative phosphorylation deficiency 7 | AR |
C19orf12 | 614297 | neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 | AD, AR |
CA8 | 114815 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 | AR |
CACNA1A | 601011 | episodic ataxia type 2; familial hemiplegic migraine 1; spinocerebellar ataxia 6; early infantile epileptic encephalopathy, 42 | AD |
CACNB4 | 601949 | Epilepsy, Idiopathic Generalized, Susceptibility To, 9; Episodic ataxia, type 5 | AD |
CAMTA1 | 611501 | Cerebellar ataxia, nonprogressive, with mental retardation | AD |
CASK | 300172 | Fg Syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia | XLD |
CC2D2A | 612013 | COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 | AR |
CCDC88C | 611204 | Hydrocephalus, nonsyndromic, autosomal recessive 1; spinocerebellar ataxia type 40 | AD, AR |
CEP290 | 610142 | Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14 | AR |
CEP41 | 610523 | Joubert syndrome 15 | AR |
CHMP1A | 164010 | pontocerebellar hypoplasia 8 | AR |
CLCN2 | 600570 | Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Leukoencephalopathy with ataxia | AD, AR |
CLN5 | 608102 | neuronal ceroid lipofuscinosis type 5 | AR |
CLN6 | 606725 | adulte onset neuronal ceroid lipofuscinosis, Kufs type; neuronal ceroid lipofuscinosis type 6 | AR |
CLPP | 601119 | Perrault syndrome 3 | AR |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12 | AR |
COQ2 | 609825 | Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1 | AD, AR |
COQ8A | 606980 | primary Coenzyme Q10 deficiency type 4 - COQ10D4 | AR |
COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
COX20 | 614698 | Mitochondrial complex IV deficiency | AR, M |
CP | 117700 | aceruloplasminemia | AR |
CPLANE1 | 614571 | oral-facial-digital syndrome 6; Joubert syndrome 17 | AR |
CSPP1 | 611654 | Joubert syndrome 21 | AR |
CWF19L1 | 616120 | autosomal recessive spinocerebellar ataxia 17 | AR |
CYP27A1 | 606530 | cerebrotendinous xanthomatosis | AR |
DARS2 | 610956 | leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
DNAJC19 | 608977 | 3-methylglutaconic aciduria, type 5 | AR |
DNAJC5 | 611203 | neuronal ceroid lipofuscinosis type 4, Parry type | AD |
DNMT1 | 126375 | cerebellar ataxia, deafness and narcolepsy; Neuropathy, hereditary sensory, type IE | AD |
EIF2B1 | 606686 | leukoencephaly with vanishing white matter | AR |
EIF2B2 | 606454 | leukoencephaly with vanishing white matter | AR |
EIF2B3 | 606273 | leukoencephaly with vanishing white matter | AR |
EIF2B4 | 606687 | leukoencephaly with vanishing white matter | AR |
EIF2B5 | 603945 | leukoencephaly with vanishing white matter | AR |
ELOVL4 | 605512 | Spinocerebellar ataxia 34; Stargardt disease 3; Ichthyosis, spastic quadriplegia, and mental retardation | AD, AR |
ELOVL5 | 611805 | spinocerebellar ataxia 38 | AD |
EXOSC3 | 606489 | pontocerebellar hypoplasia type 1B | AR |
FA2H | 611026 | spastic paraplegia 35 | AR |
FBXL4 | 605654 | mitochondrial DNA depletion syndrome 13 | AR |
FGF14 | 601515 | spinocerebellar ataxia 27 | AD |
FLVCR1 | 609144 | Ataxia, posterior column, with retinitis pigmentosa | AR |
FTL | 134790 | Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 | AD, AR |
FXN | 606829 | Friedreich ataxia | AR |
GALC | 606890 | Krabbe disease | AR |
GBA | 606463 | Lewy body dementia; Susceptibility to late-onset Parkinson disease; Gaucher disease type 1; Gaucher disease type 2 (acute); Gaucher disease type 3 (subacute/ chronic); Gaucher disease, cardiovascular form; Gaucher disease, perinatal-lethal form | AD, AR |
GBA2 | 609471 | spastic paraplegia 46 | AR |
GFAP | 137780 | Alexander disease | AD |
GJB1 | 304040 | Charcot-Marie-Tooth disease type 1 | XLD |
GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2; spastic paraplegia 44 | AD, AR |
GOSR2 | 604027 | Epilepsy, progressive myoclonic 6 | AR |
GRID2 | 602368 | autosomal recessive spinocerebellar ataxia 18 | AR |
GRM1 | 604473 | autosomal recessive spinocerebellar ataxia 13; Spinocerebellar ataxia type 44 | AD, AR |
GSS | 601002 | Glutathione synthetase deficiency | AR |
HEPACAM | 611642 | megalencephalic leukoencephalopathy with subcortical cysts type 2A; megalencephalic leukoencephalopathy with subcortical cysts type 2B, remitting, with or without mental retardation | AD, AR |
HEXB | 606873 | Sandhoff disease | AR |
HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
INPP5E | 613037 | Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
ITM2B | 603904 | Cerebral amyloid angiopathy, itm2b-related, 2; Cerebral amyloid angiopathy, itm2b-related, 1 | AD |
ITPR1 | 147265 | spinocerebellar ataxia 29; Gillespie syndrome; spinocerebellar ataxia 15 | AD, AR |
KCNA1 | 176260 | Episodic ataxia/myokymia syndrome | AD |
KCNC3 | 176264 | spinocerebellar ataxia 13 | AD |
KCND3 | 605411 | spinocerebellar ataxia 19 | AD |
KCNJ10 | 602208 | autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance | AR |
KIF1A | 601255 | spastic paraplegia 30; Neuropathy, hereditary sensory, type IIC; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 | AD, AR |
KIF1C | 603060 | Spastic ataxia 2, autosomal recessive | AR |
KIF5A | 602821 | spastic paraplegia 10; Neonatal intractable myoclonus | AD |
KIF7 | 611254 | Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 | AR |
LAMA1 | 150320 | Poretti-Boltshauser syndrome | AR |
LMNB1 | 150340 | Leukodystrophy, adult-onset, autosomal dominant | AD |
LRPPRC | 607544 | Leigh syndrome, French-Canadian type | AR |
MARS2 | 609728 | AR | |
MKS1 | 609883 | Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 | AR |
MLC1 | 605908 | megalencephalic leukoencephalopathy with subcortical cysts type 1 | AR |
MRE11 | 600814 | Ataxia-telangiectasia-like disorder type 1 | AR |
MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15 | AR |
MTPAP | 613669 | AR | |
MTTP | 157147 | Abetalipoproteinemia; protection against metabolic syndrome | AD, AR |
NDUFAF6 | 612392 | AR | |
NDUFS1 | 157655 | AR | |
NDUFS2 | 602985 | AR | |
NDUFS4 | 602694 | mitochondrial complex I deficiency | AR |
NDUFS7 | 601825 | Mitochondrial complex I deficiency, nuclear type 3 | AR |
NDUFV1 | 161015 | AR | |
NOP56 | 614154 | spinocerebellar ataxia 36 | AD |
NPC1 | 607623 | Niemann-Pick disease type C/D | AR |
NPC2 | 601015 | Niemann-Pick disease type C2 | AR |
NPHP1 | 607100 | nephronophthisis 1; Joubert syndrome 4 | AR |
NUBPL | 613621 | AR | |
OFD1 | 300170 | Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 | XLD, XLR |
OPA1 | 605290 | Optic atrophy plus syndrome; optic atrophy type 1; Behr syndrome; Glaucoma, normal tension, susceptibility to; Mitochondrial DNA depletion syndrome 14 | AD, AR |
OPA3 | 606580 | Optic atrophy type 3 with cataract; 3-methylglutaconic aciduria type III | AD, AR |
OPHN1 | 300127 | X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance | XLR |
PANK2 | 606157 | neurodegeneration with brain iron accumulation type 1; HARP syndrome | AR |
PAX6 | 607108 | Aniridia 1; foveal hypoplasia type 1 | AD |
PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
PDSS1 | 607429 | Coenzyme Q10 deficiency, primary, 2 | AR |
PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
PDYN | 131340 | spinocerebellar ataxia 23 | AD |
PEX10 | 602859 | peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B | AR |
PEX2 | 170993 | peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B | AR |
PEX7 | 601757 | Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) | AR |
PHYH | 602026 | Refsum disease | AR |
PLA2G6 | 603604 | infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 | AR |
PLP1 | 300401 | Pelizaeus-Merzbacher disease; spastic paraplegia 2 | XLR |
PNKD | 609023 | dystonia 8 | AD |
PNKP | 605610 | type 2B2 Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 10 | AR |
PNPLA6 | 603197 | Boucher-Neuhauser syndrome; spastic paraplegia 39 | AR |
POLG | 174763 | progressive external ophthalmoplegia; mitochondrial DNA depletion syndrome type 4A; autosomal recessive progressive external ophthalmoplegia; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; mitochondrial DNA depletion syndrome type 4B | AD, AR |
POLR3A | 614258 | hypomyelinating leukodystrophy-7 | AR |
POLR3B | 614366 | hypomyelinating leukodystrophy-8 | AR |
PPP2R2B | 604325 | spinocerebellar ataxia 12 | AD |
PRICKLE1 | 608500 | Epilepsy, progressive myoclonic 1B | AR |
PRKCG | 176980 | spinocerebellar ataxia 14 | AD |
PRRT2 | 614386 | Episodic kinesigenic dyskinesia 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2 | AD |
RARS2 | 611524 | pontocerebellar hypoplasia type 6 | AR |
RPGRIP1L | 610937 | COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 | AR |
RRM2B | 604712 | mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | AD, AR |
RUBCN | 613516 | autosomal recessive spinocerebellar ataxia 15 | AR |
SACS | 604490 | spastic ataxia of Charlevoix-Saguenay | AR |
SCN2A | 182390 | benign familial neonatal-infantile seizures type 3; early infantile epileptic encephalopathy 11 | AD |
SETX | 608465 | amyotrophic lateral sclerosis 4; autosomal recessive spinocerebellar ataxia 1 | AD, AR |
SIL1 | 608005 | Marinesco-Sjogren syndrome | AR |
SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
SLC17A5 | 604322 | infantile sialic acid storage disorder; Salla disease | AR |
SLC1A3 | 600111 | episodic ataxia type 6 | AD |
SLC20A2 | 158378 | Basal ganglia calcification, idiopathic, 1 | AD |
SLC25A46 | 610826 | Neuropathy, hereditary motor and sensory, type VIB | AR |
SLC2A1 | 138140 | Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12 | AD, AR |
SLC52A3 | 613350 | Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1 | AR |
SLC9A6 | 300231 | Christianson type of X-linked syndromic mental retardation | XLD |
SPG11 | 610844 | Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X | AR |
SPG7 | 602783 | spastic paraplegia 7 | AD, AR |
SPR | 182125 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
SPTBN2 | 604985 | spinocerebellar ataxia 5; autosomal recessive spinocerebellar ataxia 14 | AD, AR |
STUB1 | 607207 | autosomal recessive spinocerebellar ataxia 16; ?Spinocerebellar ataxia 48 | AD, AR |
SYNE1 | 608441 | autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 | AD, AR |
TBP | 600075 | Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 17 | AD |
TCTN2 | 613846 | Meckel syndrome 8; Joubert syndrome type 24 | AR |
TGM6 | 613900 | spinocerebellar ataxia 35 | AD |
TMEM216 | 613277 | Meckel Syndrome type 2; Joubert syndrome type 2 | AR |
TMEM237 | 614423 | Joubert syndrome 14 | AR |
TMEM240 | 616101 | spinocerebellar ataxia 21 | AD |
TMEM67 | 609884 | COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 | AR |
TPP1 | 607998 | neuronal ceroid lipofuscinosis type 2; autosomal recessive spinocerebellar ataxia type 7 | AR |
TSEN2 | 608753 | pontocerebellar hypoplasia type 2B | AR |
TSEN34 | 608754 | pontocerebellar hypoplasia type 2C | AR |
TSEN54 | 608755 | pontocerebellar hypoplasia type 4; pontocerebellar hypoplasia type 2A; pontocerebellar hypoplasia type 5 | AR |
TTBK2 | 611695 | spinocerebellar ataxia 11 | AD |
TTC19 | 613814 | nuclear mitochondrial complex III deficiency type 2 | AR |
TTPA | 600415 | ataxia with vitamin E deficiency | AR |
TUBB4A | 602662 | dystonia 4; hypomyelinating leukodystrophy-6 | AD |
TWNK | 606075 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3 | AD, AR |
UBA5 | 610552 | early infantile epileptic encephalopathy, 44 | AR |
VAMP1 | 185880 | Spastic ataxia 1, autosomal dominant; Myasthenic syndrome, congenital, 25 | AD, AR |
VLDLR | 192977 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome | AR |
VRK1 | 602168 | pontocerebellar hypoplasia type 1A | AR |
WDR81 | 614218 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | AR |
WFS1 | 606201 | congenital nuclear cataract type 41; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome | AD, AR |
WWOX | 605131 | Esophageal cancer, somatic; autosomal recessive spinocerebellar ataxia 12; early infantile epileptic encephalopathy 28 | AR |
ZFYVE26 | 612012 | spastic paraplegia type 15 | AR |
Ataxia repeat expansion panel
No. of genes: | 13 |
TAT: | 25 days |
Coverage: | 100% |
Details: | Includes only repeat expansion analysis |
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
ATN1 | 607462 | Dentatorubro-pallidoluysian atrophy; congenital hypotonia, epilepsy, developmental delay, and digital anomalies | AD |
ATXN1 | 601556 | spinocerebellar ataxia 1 | AD |
ATXN10 | 611150 | spinocerebellar ataxia 10 | AD |
ATXN2 | 601517 | Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 2 | AD |
ATXN3 | 607047 | spinocerebellar ataxia 3 | AD |
ATXN7 | 607640 | spinocerebellar ataxia 7 | AD |
ATXN8OS | 603680 | Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 8 | AD |
BEAN1 | 612051 | spinocerebellar ataxia 31 | AD |
CACNA1A | 601011 | episodic ataxia type 2; familial hemiplegic migraine 1; spinocerebellar ataxia 6; early infantile epileptic encephalopathy, 42 | AD |
FXN | 606829 | Friedreich ataxia | AR |
NOP56 | 614154 | spinocerebellar ataxia 36 | AD |
PPP2R2B | 604325 | spinocerebellar ataxia 12 | AD |
TBP | 600075 | Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 17 | AD |
Repeat expansion analysis: ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PP2R2B, TBP
COMMON SYNDROMES AND DISORDERS COVERED
Cerebellar ataxia
Episodic ataxia
Pontocerebellar hypoplasia
Spinocerebellar ataxia
Available Downloads for Ataxia panels
Amyotrophic lateral sclerosis (ALS) panel
Our amyotrophic lateral sclerosis (ALS) panel is designed to detect ALS, which is a progressive neurodegenerative disorder characterized by the degeneration of the upper and lower motor neurons. Most cases appear to be sporadic, but 5-10% of cases have a family history of the disease (FALS).
No. of genes: | 36 |
TAT: | 25 days |
Coverage: | ≥99.5% ≥20x |
Details: | CNV analysis included Repeat Expansion: C9ORF72, PRNP |
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
ALS2 | 606352 | amyotrophic lateral sclerosis 2; Spastic paralysis, infantile onset ascending | AR |
ANG | 105850 | amyotrophic lateral sclerosis 9 | |
C9orf72 | 614260 | frontotemporal dementia and/or amyotrophic lateral sclerosis | AD |
CHCHD10 | 615903 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | AD |
CHMP2B | 609512 | Dementia, familial, nonspecific; amyotrophic lateral sclerosis 17 | AD |
CSF1R | 164770 | hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia | AD, AR |
DCTN1 | 601143 | amyotrophic lateral sclerosis 1; Perry syndrome; Neuronopathy, Distal Hereditary Motor, Type Viib | AD, AR |
ERBB4 | 600543 | Amyotrophic lateral sclerosis 19 | AD |
FIG4 | 609390 | Yunis-Varon syndrome; type 4J Charcot-Marie-Tooth disease; amyotrophic lateral sclerosis 11; Polymicrogyria, bilateral temporooccipital | AD, AR |
FUS | 137070 | amyotrophic lateral sclerosis 6; Tremor, hereditary essential, 4 | AD |
GRN | 138945 | frontotemporal lobar degeneration with ubiquitin-positive inclusions; neuronal ceroid lipofuscinosis type 11 | AD, AR |
HNRNPA1 | 164017 | Amyotrophic lateral sclerosis 20 | AD |
ITM2B | 603904 | Cerebral amyloid angiopathy, itm2b-related, 2; Cerebral amyloid angiopathy, itm2b-related, 1 | AD |
KIF5A | 602821 | spastic paraplegia 10; Neonatal intractable myoclonus | AD |
MAPT | 157140 | Susceptibility to late-onset Parkinson disease; Pick disease; Dementia, frontotemporal | AD, AR |
MATR3 | 164015 | Myopathy, Distal, 2 | AD |
NEFH | 162230 | amyotrophic lateral sclerosis 1; Charcot-Marie-Tooth disease, axonal, type 2CC | AD, AR |
OPTN | 602432 | Adult-onset primary open angle glaucoma; Glaucoma, normal tension, susceptibility to; amyotrophic lateral sclerosis 12 | AD |
PFN1 | 176610 | amyotrophic lateral sclerosis 18 | |
PRNP | 176640 | Creutzfeldt-Jakob disease; Gerstmann-Straussler disease; Kuru, susceptibility to; Insomnia, fatal familial; Huntington disease-like 1; Prion disease with protracted course | AD |
PRPH | 170710 | amyotrophic lateral sclerosis 1 | AD, AR |
PSEN1 | 104311 | Pick disease; Dementia, frontotemporal; early-onset familial Alzheimer disease-3; dilated cardiomyopathy-1U; Acne inversa, familial, 3 | AD |
PSEN2 | 600759 | Alzheimer disease, type 4; dilated cardiomyopathy-1V | AD |
SETX | 608465 | amyotrophic lateral sclerosis 4; autosomal recessive spinocerebellar ataxia 1 | AD, AR |
SIGMAR1 | 601978 | distal spinal muscular atrophy type 2; amyotrophic lateral sclerosis 16 | AR |
SLC52A3 | 613350 | Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1 | AR |
SOD1 | 147450 | amyotrophic lateral sclerosis 1 | AD, AR |
SPG11 | 610844 | Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X | AR |
SQSTM1 | 601530 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | AD, AR |
TARDBP | 605078 | amyotrophic lateral sclerosis 10 | AD |
TBK1 | 604834 | Frontotemporal dementia and/or amyotrophic lateral sclerosis type 4; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | AD |
TREM2 | 605086 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 2 | AD |
TUBA4A | 191110 | amyotrophic lateral sclerosis 22 | AD |
UBQLN2 | 300264 | amyotrophic lateral sclerosis 15 | XLD |
VAPB | 605704 | Finkel type late-onset spinal muscular atrophy; amyotrophic lateral sclerosis 8 | AD |
VCP | 601023 | inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; amyotrophic lateral sclerosis 14; Charcot-Marie-Tooth disease type 2Y | AD |
COMMON SYNDROMES AND DISORDERS COVERED
Amyotrophic lateral sclerosis
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: | 843 |
TAT: | 15 days / 10 days (fast option) |
Coverage: | ≥99.5% ≥20x |
Details: | Only next-generation sequencing. CNV analysis not available. |
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
AARS1 | 601065 | type 2N Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 29 | AD, AR |
AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure | AR |
AASS | 605113 | Hyperlysinemia | AR |
ABAT | 137150 | GABA-transaminase deficiency | AR |
ABCA12 | 607800 | harlequin fetus type of congenital ichthyosis; congenital ichthyosis 4A | AR |
ABCA3 | 601615 | surfactant metabolism dysfunction-3 | AR |
ABCB11 | 603201 | progressive familial intrahepatic cholestasis type 2; benign recurrent intrahepatic cholestasis type 2 | AR |
ABCC8 | 600509 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; leucine-sensitive hypoglycemia of infancy; familial hyperinsulinemic hypoglycemia type 1; transient neonatal diabetes mellitus type 2 | AD, AR |
ABCD1 | 300371 | adrenoleukodystrophy | XLR |
ABCD3 | 170995 | congenital bile acid synthesis defect-5 | AR |
ABCD4 | 603214 | Methylmalonic aciduria and homocystinuria, cblJ type | AR |
ACAD8 | 604773 | AR | |
ACAD9 | 611103 | Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of | AR |
ACADM | 607008 | medium chain acyl-CoA dehydrogenase deficiency | AR |
ACADS | 606885 | short-chain acyl-CoA dehydrogenase deficiency | AR |
ACADSB | 600301 | 2-methylbutyrylglycinuria | AR |
ACADVL | 609575 | very long chain acyl-CoA dehydrogenase deficiency | AR |
ACAT1 | 607809 | alpha-methylacetoacetic aciduria | AR |
ACO2 | 100850 | Infantile cerebellar-retinal degeneration | AR |
ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency | AR |
ACSF3 | 614245 | Combined malonic and methylmalonic aciduria | |
ACTA1 | 102610 | Myopathy, nemaline, 3; Myopathy, congenital, with fiber-type disproportion | AD, AR |
ACY1 | 104620 | Aminoacylase 1 deficiency | AR |
ADA | 608958 | Adenosine deaminase deficiency | AR |
ADAMTS13 | 604134 | thrombotic thrombocytopenic purpura | AR |
ADAMTSL2 | 612277 | Geleophysic dysplasia 1 | AR |
ADAR | 146920 | Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome type 6 | AD, AR |
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; autosomal recessive cataract type 38 | AR |
AGL | 610860 | glycogen storage disease type III | AR |
AGPAT2 | 603100 | Lipodystrophy, congenital generalized, type 1 | AR |
AGPS | 603051 | rhizomelic chondrodysplasia punctata type 3 | AR |
AGRN | 103320 | congenital myasthenic syndrome type 8, with pre- and postsynaptic defects | AR |
AGXT | 604285 | primary hyperoxaluria type 1 | AR |
AHCY | 180960 | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | AR |
AICDA | 605257 | Immunodeficiency with hyper-IgM, type 2 | AR |
AIFM1 | 300169 | Deafness, X-linked 5; Combined oxidative phosphorylation deficiency 6; Cowchock syndrome | XLR |
AIMP1 | 603605 | hypomyelinating leukodystrophy-3 | AR |
AKAP9 | 604001 | long QT syndrome 11 | AD |
AKR1D1 | 604741 | Bile acid synthesis defect, congenital, 2 | AR |
AKT2 | 164731 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Hypoinsulinemic hypoglycemia with hemihypertrophy | AD |
ALAD | 125270 | Acute hepatic porphyria | AR |
ALAS2 | 301300 | X-linked sideroblastic anemia; Protoporphyria, erythropoietic, X-linked | XL, XLR |
ALDH18A1 | 138250 | Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 | AD, AR |
ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
ALDH4A1 | 606811 | hyperprolinemia, type II | AR |
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
ALDH6A1 | 603178 | Methylmalonate semialdehyde dehydrogenase deficiency | AR |
ALDH7A1 | 107323 | pyridoxine-dependent epilepsy | AR |
ALDOA | 103850 | Glycogen storage disease XII | AR |
ALDOB | 612724 | hereditary fructose intolerance | AR |
ALG1 | 605907 | congenital disorder of glycosylation type 1k | AR |
ALG11 | 613666 | congenital disorder of glycosylation type 1p | AR |
ALG12 | 607144 | congenital disorder of glycosylation type 1g | AR |
ALG13 | 300776 | congenital disorder of glycosylation type 1s | XLD |
ALG14 | 612866 | AR | |
ALG2 | 607905 | congenital disorder of glycosylation type 1i | AR |
ALG3 | 608750 | congenital disorder of glycosylation type 1d | AR |
ALG6 | 604566 | congenital disorder of glycosylation type 1c | AR |
ALG8 | 608103 | congenital disorder of glycosylation type 1h | AD, AR |
ALG9 | 606941 | Gillessen-Kaesbach-Nishimura syndrome; congenital disorder of glycosylation type 1l | AR |
ALOX12B | 603741 | congenital ichthyosis 2 | AR |
ALOXE3 | 607206 | Ichthyosis, congenital, autosomal recessive 3 | AR |
ALPL | 171760 | adult hypophosphatasia; infantile hypophosphatasia; childhood-onset hypophosphatasia | AD, AR |
ALS2 | 606352 | amyotrophic lateral sclerosis 2; Spastic paralysis, infantile onset ascending | AR |
AMACR | 604489 | Alpha-methylacyl-CoA racemase deficiency | AR |
AMN | 605799 | 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 type 2 | AD |
ANKS6 | 615370 | nephronophthisis 16 | AR |
ANTXR1 | 606410 | Gapo syndrome; Hemangioma, capillary infantile, somatic | AD, AR |
ANTXR2 | 608041 | Hyaline fibromatosis syndrome | AR |
AP2S1 | 602242 | Hypocalciuric hypercalcemia, familial, type III | AD |
AP4B1 | 607245 | spastic paraplegia 47 | AR |
AP4E1 | 607244 | spastic paraplegia 51 | AD, AR |
AP4M1 | 602296 | autosomal recessive spastic paraplegia type 50 | AR |
AP4S1 | 607243 | spastic paraplegia 52 | AR |
APOB | 107730 | Hypercholesterolemia, Type B; Hypobetalipoproteinemia | AD, AR |
APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
ARG1 | 608313 | Argininemia | AR |
ARL6 | 608845 | Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | AR, DiR |
ARSA | 607574 | metachromatic leukodystrophy | AR |
ARSB | 611542 | mucopolysaccharidosis type VI | AR |
ARX | 300382 | Proud syndrome; X-linked lissencephaly-2; ARX- related mental retardation; early infantile epileptic encephalopathy 1; Partington X-Linked Mental Retardation Syndrome | XL, XLR |
ASAH1 | 613468 | Spinal muscular atrophy with progressive myoclonic epilepsy; Farber lipogranulomatosis | AR |
ASL | 608310 | argininosuccinic aciduria | AR |
ASNS | 108370 | Asparagine synthetase deficiency | AR |
ASPA | 608034 | Canavan disease | AR |
ASPM | 605481 | primary microcephaly 5 | AR |
ASS1 | 603470 | citrullinemia | AR |
ATIC | 601731 | AR | |
ATP1A3 | 182350 | Dystonia 12; Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; Alternating hemiplegia of childhood 2 | AD |
ATP6V0A2 | 611716 | autosomal recessive cutis laxa type IIA; Wrinkly skin syndrome | AR |
ATP6V1B1 | 192132 | Renal tubular acidosis with deafness | AR |
ATP7A | 300011 | X-linked distal spinal muscular atrophy type 3; Occipital horn syndrome; Menkes disease | XLR |
ATP7B | 606882 | Wilson disease | AR |
ATP8B1 | 602397 | Cholestasis, intrahepatic, of pregnancy, 1; Cholestasis, Progressive Familial Intrahepatic, 1; Cholestasis, Benign Recurrent Intrahepatic, 1 | AD, AR |
ATPAF2 | 608918 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | AR |
ATR | 601215 | Seckel syndrome 1; ?Cutaneous telangiectasia and cancer syndrome, familial | AD, AR |
ATRX | 300032 | Alpha-Thalassemia Myelodysplasia Syndrome; Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked; Mental retardation-hypotonic facies syndrome, X-linked | XLD, XLR |
AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
B3GLCT | 610308 | Peters-plus syndrome | AR |
B4GALT1 | 137060 | congenital disorder of glycosylation type 2d | AR |
BCAP31 | 300398 | Deafness, dystonia, and cerebral hypomyelination; ddch contiguous abcd1/dxs1375e deletion syndrome, included; cadds, included | XLR |
BCKDHA | 608348 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
BCKDHB | 248611 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
BCKDK | 614901 | BCKDK deficiency | |
BCS1L | 603647 | Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome | AR, M |
BDNF | 113505 | ||
BICD2 | 609797 | autosomal dominant lower extremity-predominant spinal muscular atrophy type 2 | AD |
BIN1 | 601248 | centronuclear myopathy | AR |
BLNK | 604515 | Agammaglobulinemia 4 | AR |
BOLA3 | 613183 | Multiple mitochondrial dysfunctions syndrome 2 | AR |
BRAF | 164757 | Cardiofaciocutaneous Syndrome 1; Lung Cancer; Noonan syndrome 7; LEOPARD syndrome 3 | AD |
BRAT1 | 614506 | Rigidity and multifocal seizure syndrome, lethal neonatal; neurodevelopmental disorder with cerebellar atrophy and with or without seizures | AR |
BRCA2 | 600185 | familial breast-ovarian cancer type 2; Medulloblastoma; Prostate Cancer; Wilms tumor, type 1; Fanconi anemia complementation group D1; pancreatic cancer type 2 | AD, AR |
BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy, progressive, with or without lipodystrophy | AD, AR |
BSND | 606412 | Bartter Syndrome type 4A | AR |
BTD | 609019 | biotinidase deficiency | AR |
BTK | 300300 | X-linked agammaglobulinemia | XLR |
C12orf65 | 613541 | Combined oxidative phosphorylation deficiency 7 | AR |
CA12 | 603263 | hyperchlorhidrosis, isolated | AR |
CACNA1C | 114205 | Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8 | AD |
CACNB2 | 600003 | Brugada syndrome 4 | |
CALM1 | 114180 | Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 | AD |
CAMTA1 | 611501 | Cerebellar ataxia, nonprogressive, with mental retardation | AD |
CASK | 300172 | Fg Syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia | XLD |
CASR | 601199 | Hypocalciuric hypercalcemia, type I; Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant, with Bartter syndrome; Epilepsy idiopathic generalized, susceptibility to, 8 | AD, AR |
CAST | 114090 | peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | AR |
CAV1 | 601047 | AD, AR | |
CAV3 | 601253 | Creatine phosphokinase, elevated serum; familial hypertrophic cardiomyopathy 1; Rippling muscle disease; Rippling muscle disease 2; long QT syndrome 9 | AD, DiD |
CAVIN1 | 603198 | Lipodystrophy, congenital generalized, type 4 | AR |
CBS | 613381 | homocystinuria with or without response to pyridoxine | AR |
CCDC103 | 614677 | Ciliary dyskinesia, primary, 17 | AR |
CCDC114 | 615038 | Ciliary dyskinesia, primary, 20 | AR |
CCDC78 | 614666 | Myopathy, centronuclear, 4 | AD |
CD19 | 107265 | Immunodeficiency, common variable, 3 | AR |
CD247 | 186780 | Immunodeficiency-25 | AR |
CD320 | 606475 | Methylmalonic aciduria due to transcobalamin receptor defect | |
CD3D | 186790 | Immunodeficiency 19 | AR |
CD3E | 186830 | Immunodeficiency 18 | AR |
CD3G | 186740 | AR | |
CD40 | 109535 | Immunodeficiency with hyper-IgM, type 3 | AR |
CD40LG | 300386 | Immunodeficiency With Hyper-Igm, Type 1 | 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 | congenital dyserythropoietic anemia 1 | AR |
CDK5RAP2 | 608201 | primary microcephaly 3 | AR |
CDKL5 | 300203 | early infantile epileptic encephalopathy 2 | XLD |
CDKN1C | 600856 | Beckwith-Wiedemann syndrome; IMAGE syndrome | AD |
CENPJ | 609279 | primary microcephaly 6; Seckel syndrome 4 | AR |
CEP152 | 613529 | Seckel syndrome 5; primary microcephaly 9 | AR |
CEP290 | 610142 | Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14 | AR |
CERS3 | 615276 | Ichthyosis, congenital, autosomal recessive 9 | AR |
CFAP298 | 615494 | primary ciliary dyskinesia type 26 | AR |
CFH | 134370 | atypical hemolytic uremic syndrome 1; Complement factor H deficiency | AD, AR |
CFHR3 | 605336 | atypical hemolytic uremic syndrome 1; Macular Degeneration, Age-Related, 1 | AD, AR |
CFL2 | 601443 | nemaline myopathy type 7 | AR |
CFTR | 602421 | hereditary pancreatitis; Bronchiectasis with or without elevated sweat chloride type 1; cystic fibrosis; congenital bilateral absence of vas deferens | AD, AR |
CHAT | 118490 | Presynaptic congenital myasthenic syndrome type 6 | AR |
CHD7 | 608892 | CHARGE syndrome; hypogonadotropic hypogonadism-5 with or without anosmia | AD |
CHKB | 612395 | Muscular dystrophy, congenital, megaconial type | AR |
CHM | 300390 | Choroideremia | XLD |
CHRNA1 | 100690 | Multiple pterygium syndrome, lethal type; Myasthenic syndrome, slow-channel congenital; Myasthenic syndrome, fast-channel congenital | AD, AR |
CHRNB1 | 100710 | Myasthenic syndrome, congenital, 2A, slow-channel; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency | AD, AR |
CHRND | 100720 | Multiple pterygium syndrome, lethal type; slow-channel congenital myasthenic syndrome type 3A; Congenital fast-channel myasthenic syndrome type 3B; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency | AD, AR |
CHRNE | 100725 | slow-channel congenital myasthenic syndrome type 4A; congenital myasthenic syndrome type 4C, associated with acetylcholine receptor deficiency; fast-channel congenital myasthenic syndrome type 4B | AD, AR |
CIDEC | 612120 | Lipodystrophy, familial partial, type 5 | AR |
CLCN1 | 118425 | myotonia congenita (Thomsen myotonia); myotonia congenita (Becker myotonia) | AD, AR |
CLCNKA | 602024 | Bartter syndrome, type 4b, digenic | DiR |
CLCNKB | 602023 | Bartter syndrome, type 3; Bartter syndrome, type 4b, digenic | AR, DiR |
CLDN16 | 603959 | renal hypomagnesemia type 3 | AR |
CLN3 | 607042 | neuronal ceroid lipofuscinosis type 3 | AR |
CLN5 | 608102 | neuronal ceroid lipofuscinosis type 5 | AR |
CLN6 | 606725 | adulte onset neuronal ceroid lipofuscinosis, Kufs type; neuronal ceroid lipofuscinosis type 6 | AR |
CLN8 | 607837 | neuronal ceroid lipofuscinosis type 8; neuronal ceroid lipofuscinosistype 8, Northern epilepsy variant | AR |
CLPB | 616254 | 3-methylglutaconic aciduria type VII with cataracts, neurologic involvement and neutropenia | AR |
CNTN1 | 600016 | Myopathy, congenital, Compton-North | AR |
COA5 | 613920 | AR | |
COG1 | 606973 | Congenital disorder of glycosylation, type IIg | AR |
COG6 | 606977 | congenital disorder of glycosylation type 2l; Shaheen syndrome | AR |
COG7 | 606978 | Congenital disorder of glycosylation, type IIe | AR |
COL11A1 | 120280 | Marshall syndrome; Fibrochondrogenesis 1; Stickler syndrome 2 | AD, AR |
COL17A1 | 113811 | junctional epidermolysis bullosa, non-Herlitz type | AD, AR |
COL1A1 | 120150 | Caffey disease; Ehlers-Danlos syndrome arthrochalasia type 1; osteogenesis imperfecta type 1; osteogenesis imperfecta type 2; osteogenesis imperfecta type 4; OSTEOPOROSIS; osteogenesis imperfecta type 3 | AD |
COL1A2 | 120160 | osteogenesis imperfecta type 2; osteogenesis imperfecta type 4; OSTEOPOROSIS; Ehlers-Danlos syndrome, cardiac valvular form; osteogenesis imperfecta type 3; Ehlers-Danlos syndrome arthrochalasia type 2 | AD, AR |
COL2A1 | 120140 | Epiphyseal dysplasia, multiple, with myopia and deafness; Legg-Calve-Perthes disease; Platyspondylic skeletal dysplasia, Torrance type; Kniest dysplasia; congenital spondyloepiphyseal dysplasia; SMED Strudwick type; Achondrogenesis, type II or hypochondrogenesis; Spondyloperipheral dysplasia; Osteoarthritis with mild chondrodysplasia; Avascular necrosis of the femoral head; Czech dysplasia; Stickler syndrome type 1; Stanescu type spondyloepiphyseal dysplasia | AD |
COL3A1 | 120180 | vascular-type Ehlers-Danlos syndrome | AD, AR |
COL5A2 | 120190 | Ehlers-Danlos syndrome classic type 2 | AD |
COL6A1 | 120220 | Bethlem myopathy type 1; Ullrich congenital muscular dystrophy | AD, AR |
COL6A2 | 120240 | Bethlem myopathy type 1; Ullrich congenital muscular dystrophy | AD, AR |
COL6A3 | 120250 | Bethlem myopathy type 1; Ullrich congenital muscular dystrophy; dystonia 27 | AD, AR |
COL7A1 | 120120 | transient bullous dermolysis of the newborn; autosomal dominant epidermolysis bullosa dystrophica; pretibial epidermolysis bullosa dystrophica; epidermiolysis bullosa dystrophica, Bart type; Epidermolysis bullosa dystrophica, AR; Epidermolysis bullosa pruriginosa; nonsyndromic congenital nail disorder type 8 | AD, AR |
COLQ | 603033 | congenital myasthenic syndrome type 5 | AR |
COMP | 600310 | Epiphyseal Dysplasia, Multiple, 1; Pseudoachondroplasia | AD |
COQ2 | 609825 | Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1 | AD, AR |
COQ8A | 606980 | primary Coenzyme Q10 deficiency type 4 - COQ10D4 | AR |
COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
CORO1A | 605000 | AR | |
COX10 | 602125 | Mitochondrial complex IV deficiency; Leigh syndrome | AR, M |
COX15 | 603646 | Leigh syndrome; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | AR, M |
COX20 | 614698 | Mitochondrial complex IV deficiency | AR, M |
COX6B1 | 124089 | Mitochondrial complex IV deficiency | AR, M |
CPS1 | 608307 | carbamoyl-phosphate synthetase 1 deficiency | AR |
CPT1A | 600528 | hepatic CPT deficiency type IA | AR |
CPT2 | 600650 | stress-induced myopathic CPT II deficiency; infantile CPT deficiency; lethal neonatal CPT II deficiency; susceptibility to infection-induced acute encephalopathy type 4 | AD, AR |
CR2 | 120650 | Systemic Lupus Erythematosus, Susceptibility To, 9; Immunodeficiency, common variable, 7 | AR |
CRPPA | 614631 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C7 | AR |
CRTAP | 605497 | osteogenesis imperfecta type 7 | AR |
CTNS | 606272 | ocular nonnephropathic cystinosis; cystinosis; late-onset juvenile or adolescent nephropathic cystinosis | AR |
CTPS1 | 123860 | AR | |
CTSA | 613111 | galactosialidosis | AR |
CTSD | 116840 | neuronal ceroid lipofuscinosis type 10 | AR |
CUL4B | 300304 | MENTAL RETARDATION, X-LINKED 15 | XLR |
CXCR4 | 162643 | WHIM syndrome | AD |
CYP11B1 | 610613 | Glucocorticoid-Remediable Aldosteronism; Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency | AD, AR |
CYP11B2 | 124080 | congenita hypoaldosteronism due to CMO I deficiency; congenital hypoaldosteronism due to CMO II deficiency | AR |
CYP17A1 | 609300 | congenital adrenal hyperplasia due to 17-Alpha-Hydroxylase deficiency | AR |
CYP4F22 | 611495 | Ichthyosis, congenital, autosomal recessive 5 | AR |
CYP7B1 | 603711 | spastic paraplegia 5A | AR |
D2HGDH | 609186 | D-2-Hydroxyglutaric Aciduria 1 | AR |
DBT | 248610 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
DCLRE1C | 605988 | severe combined immunodeficiency, Athabascan type; Omenn syndrome | AR |
DDC | 107930 | Aromatic L-amino acid decarboxylase deficiency | AR |
DDOST | 602202 | Congenital disorder of glycosylation, type Ir | AR |
DDR2 | 191311 | Spondylometaepiphyseal dysplasia, short limb-hand type | AD, AR |
DEPDC5 | 614191 | Epilepsy, familial focal, with variable foci | AD |
DES | 125660 | Scapuloperoneal syndrome, neurogenic, Kaeser type; Myopathy, myofibrillar, 1; dilated cardiomyopathy-1I | AD, AR |
DGUOK | 601465 | mitochondrial DNA depletion syndrome 3 | AR |
DHCR24 | 606418 | Desmosterolosis | AR |
DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
DIAPH1 | 602121 | Deafness, autosomal dominant 1; Seizures, cortical blindness, microcephaly syndrome | AD, AR |
DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
DLD | 238331 | dihydrolipoamide dehydrogenase deficiency | AR |
DMD | 300377 | Becker muscular dystrophy; dilated cardiomyopathy type 3B; Duchenne muscular dystrophy | XL, XLR |
DNA2 | 601810 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6 | AD, AR |
DNAH11 | 603339 | primary ciliary dyskinesia type 7, with or without situs inversus | AR |
DNAH5 | 603335 | primary ciliary dyskinesia type 3, with or without situs inversus | |
DNAI1 | 604366 | primary ciliary dyskinesia type 1, with or without situs inversus | AR |
DNAI2 | 605483 | primary ciliary dyskinesia type 9, with or without situs inversus | |
DNAJC19 | 608977 | 3-methylglutaconic aciduria, type 5 | AR |
DNM2 | 602378 | Myopathy, centronuclear 1; CHARCOT-MARIE-TOOTH, DOMINANT INTERMEDIATE TYPE B; Lethal congenital contracture syndrome 5 | AD, AR |
DOCK7 | 615730 | early infantile epileptic encephalopathy 23 | AR |
DOCK8 | 611432 | Hyper-IgE recurrent infection syndrome, autosomal recessive | AR |
DOK7 | 610285 | congenital myasthenic syndrome type 10 | AR |
DOLK | 610746 | congenital disorder of glycosylation type 1m | AR |
DPAGT1 | 191350 | congenital disorder of glycosylation type 1j; Myasthenic syndrome, congenital, with tubular aggregates 13 | AR |
DPM2 | 603564 | Congenital disorder of glycosylation, type Iu | AR |
DPYD | 612779 | Dihydropyrimidine dehydrogenase deficiency | AR |
DRC1 | 615288 | primary ciliary dyskinesia, 21 | AR |
DSP | 125647 | dilated cardiomyopathy with woolly hair and keratoderma; arrhythmogenic right ventricular dysplasia type 8; lethal acantholytic epidermolysis bullosa; Keratosis palmoplantaris striata II; dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis | AD, AR |
DST | 113810 | Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 | AR |
DUOX2 | 606759 | hyroid dyshormonogenesis type 6 | AR |
DUOXA2 | 612772 | Thyroid dyshormonogenesis type 5 | AR |
DYSF | 603009 | limb-girdle muscular dystrophy type 2B; Miyoshi muscular dystrophy type 1; distal myopathy with anterior tibial onset | AR |
EDN3 | 131242 | congenital central hypoventilation syndrome; Waardenburg syndrome type 4B; Hirschsprung disease 4 | AD, AR |
EEF1A2 | 602959 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; early infantile epileptic encephalopathy type 33 | AD |
EGR2 | 129010 | Dejerine-Sottas syndrom; congenital hypomyelinating neuropathy; type 1D Charcot-Marie-Tooth disease | AD, AR |
EIF2AK3 | 604032 | Wolcott-Rallison syndrome | AR |
EIF2B1 | 606686 | leukoencephaly with vanishing white matter | AR |
EIF2B2 | 606454 | leukoencephaly with vanishing white matter | AR |
EIF2B3 | 606273 | leukoencephaly with vanishing white matter | AR |
EIF2B4 | 606687 | leukoencephaly with vanishing white matter | AR |
EIF2B5 | 603945 | leukoencephaly with vanishing white matter | AR |
ELAC2 | 605367 | Prostate Cancer, Hereditary, 2; Combined oxidative phosphorylation deficiency 17 | AR |
ELANE | 130130 | Neutropenia, cyclic; Neutropenia, severe congenital 1, autosomal dominant | AD |
ENPP1 | 173335 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Arterial calcification, generalized, of infancy, 1; OBESITY; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease | AD, AR |
EPB42 | 177070 | Spherocytosis, type 5 | |
EPCAM | 185535 | Diarrhea 5, with tufting enteropathy, congenital; Colorectal cancer, hereditary nonpolyposis, type 8 | AR |
ETFA | 608053 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETFB | 130410 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETFDH | 231675 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETHE1 | 608451 | ethylmalonic encephalopathy | AR |
EVC | 604831 | Weyers acrofacial dysostosis; Ellis-van Creveld syndrome | AD, AR |
EVC2 | 607261 | Weyers acrofacial dysostosis; Ellis-van Creveld syndrome | AD, AR |
EXOSC3 | 606489 | pontocerebellar hypoplasia type 1B | AR |
EYA1 | 601653 | Branchiootorenal Syndrome 1; Otofaciocervical Syndrome 1; Branchiootic syndrome 1 | AD |
EYA4 | 603550 | Deafness, autosomal dominant 10; dilated cardiomyopathy-1J | AD |
F10 | 613872 | Factor X deficiency | AR |
F11 | 264900 | Factor XI deficiency | |
F13A1 | 134570 | thrombophilia due to thrombin defect; Myocardial infarction, decreased susceptibility to; Factor XIIIA deficiency | AD, AR |
F2 | 176930 | thrombophilia due to thrombin defect; susceptibility to ischemic stroke; congenital prothrombin deficiency; susceptibility to recurrent pregnancy loss type 2 | AD, AR |
F5 | 612309 | thrombophilia due to activated protein C resistance; factor V deficiency; Budd-Chiari syndrome; susceptibility to ischemic stroke; susceptibility to recurrent pregnancy loss type 1 | AD, AR |
F7 | 613878 | Factor VII Deficiency; Myocardial infarction, decreased susceptibility to | AR |
F8 | 300841 | hemophilia A | XLR |
F9 | 300746 | X-linked thrombophilia due to factor IX defect; hemophilia B | XL, XLR |
FADD | 602457 | recurrent infections with encephalopathy, hepatic dysfunction and cardiovasuclar malformations | AR |
FAH | 613871 | tyrosinemia type 1 | AR |
FANCA | 607139 | Fanconi anemia complementation group A | AR |
FANCB | 300515 | Fanconi anemia of complementation group B | XLR |
FANCC | 613899 | Fanconi anemia of complementation group C | AR |
FANCD2 | 613984 | Fanconi anemia of complementation group D2 | AR |
FANCL | 608111 | Fanconi anemia of complementation group L | AR |
FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14; spastic paraplegia type 77 | AR |
FASTKD2 | 612322 | AR | |
FBN1 | 134797 | Marfan syndrome; stiff skin syndrome; Weill-Marchesani syndrome 2; geleophysic dysplasia 2; Marfan lipodystrophy syndrome | AD |
FBP1 | 611570 | Fructose-1,6-bidphosphatase deficiency | AR |
FBXL4 | 605654 | mitochondrial DNA depletion syndrome 13 | AR |
FGA | 134820 | Amyloidosis, familial visceral; Afibrinogenemia, congenital; Dysfibrinogenemia, congenital | AD, AR |
FGB | 134830 | Afibrinogenemia, congenital; Dysfibrinogenemia, congenital | AR |
FGFR2 | 176943 | Apert syndrome; Saethre-Chotzen Syndrome; Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; Crouzon syndrome; Beare-Stevenson cutis gyrata syndrome; Lacrimoauriculodentodigital Syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Scaphocephaly, maxillary retrusion, and mental retardation; Gastric Cancer; Bent bone dysplasia syndrome | AD |
FGFR3 | 134934 | Achondroplasia; Bladder Cancer; colorectal cancer; Hypochondroplasia; Lacrimoauriculodentodigital Syndrome; Nevus, Epidermal; Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II; Spermatocytic seminoma, somatic; Muenke syndrome; Cervical cancer, somatic; CATSHL syndrome; Crouzon syndrome with acanthosis nigricans | AD, AR |
FGG | 134850 | Afibrinogenemia, congenital; Dysfibrinogenemia, congenital | AR |
FH | 136850 | Leiomyomatosis and renal cell cancer; Fumarase deficiency | AD, AR |
FIG4 | 609390 | Yunis-Varon syndrome; type 4J Charcot-Marie-Tooth disease; amyotrophic lateral sclerosis 11; Polymicrogyria, bilateral temporooccipital | AD, AR |
FKBP14 | 614505 | Ehlers-Danlos syndrome kyphoscoliotic type 2 | AR |
FKRP | 606596 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B5; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C5; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | AR |
FKTN | 607440 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A4; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C4; dilated cardiomyopathy type 1X; congenital muscular dystrophy-dystroglycanopathy without mental retardation type B4 | AR |
FOXC1 | 601090 | Iridogoniodysgenesis, type 1; Axenfeld-Rieger syndrome, type 3 | AD |
FOXG1 | 164874 | Rett syndrome, congenital variant | AD |
FOXP3 | 300292 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | XLR |
FOXRED1 | 613622 | AR | |
FRAS1 | 607830 | Fraser syndrome | AR |
FUCA1 | 612280 | fucosidosis | AR |
G6PC | 613742 | glycogen storage disease type IA | AR |
G6PD | 305900 | glucose-6-phosphate dehydrogenase deficiency; resistance to malaria | XLD |
GAA | 606800 | Pompe disease | AR |
GALC | 606890 | Krabbe disease | AR |
GALE | 606953 | Galactose epimerase deficiency | AR |
GALK1 | 604313 | galactokinase deficiency | AR |
GALNS | 612222 | mucopolysaccharidosis type IVA | AR |
GALT | 606999 | galactosemia | AR |
GAMT | 601240 | guanidinoacetate methyltransferase deficiency | AR |
GAN | 605379 | giant axonal neuropathy | AR |
GARS1 | 600287 | Neuropathy, distal hereditary motor, type V; type 2D Charcot-Marie-Tooth disease | AD |
GATA1 | 305371 | X-linked congenital dyserythropoietic anemia with thrombocytopenia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; beta-thalassemia - X-linked thrombocytopenia | XLR |
GATM | 602360 | Cerebral creatine deficiency syndrome 3 | AD, AR |
GBA | 606463 | Lewy body dementia; Susceptibility to late-onset Parkinson disease; Gaucher disease type 1; Gaucher disease type 2 (acute); Gaucher disease type 3 (subacute/ chronic); Gaucher disease, cardiovascular form; Gaucher disease, perinatal-lethal form | AD, AR |
GBE1 | 607839 | storage disease type 4; Polyglucosan body disease, adult form | AR |
GCDH | 608801 | glutaric academia type I | AR |
GCH1 | 600225 | dopa-responsive dystonia; Hyperphenylalaninemia, BH4-deficient, B | AD, AR |
GCK | 138079 | MODY type 2; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Hyperinsulinemic hypoglycemia, familial, 3; permanent neonatal diabetes mellitus | AD, AR |
GCSH | 238330 | glycine encephalopathy | AR |
GDAP1 | 606598 | type 4A Charcot-Marie-Tooth disease; type 2K Charcot-Marie-Tooth disease | AD, AR |
GFAP | 137780 | Alexander disease | AD |
GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
GFPT1 | 138292 | congenital myasthenic syndrome with tubular aggregates type 1 | AR |
GJA1 | 121014 | Oculodentodigital dysplasia | AD, AR |
GJB2 | 121011 | Vohwinkel syndrome; keratitis-ichthyosis-deafness syndrome; palmoplantar keratoderma with deafness; Bart-Pumphrey syndrome; nonsyndromic hearing loss; autosomal dominant deafness type 3A; Hystrix-like ichthyosis with deafness | AD, AR, DiD |
GJB4 | 605425 | erythrokeratodermia variabilis et progressiva type 2 | AD |
GK | 300474 | Glycerol kinase deficiency | XLR |
GLA | 300644 | Fabry disease; Fabry disease, atypical cardiac variant | XL |
GLB1 | 611458 | GM1-gangliosidosis; GM1-gangliosidosis type II; GM1-gangliosidosis type III; mucopolysaccharidosis type IVB | AR |
GLDC | 238300 | glycine encephalopathy | AR |
GLIS3 | 610192 | Diabetes mellitus, neonatal, with congenital hypothyroidism | AR |
GLRA1 | 138491 | Hyperekplexia, hereditary 1, autosomal dominant or recessive | AD, AR |
GLRB | 138492 | Hyperekplexia 2, autosomal recessive | AR |
GLUD1 | 138130 | familial hyperinsulinemic hypoglycemia-6 | AD |
GLYCTK | 610516 | D-glyceric aciduria | AR |
GMPPB | 615320 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | AR |
GNAS | 139320 | Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism | AD |
GNE | 603824 | Sialuria; Nonaka myopathy | AD, AR |
GNMT | 606628 | AR | |
GNPAT | 602744 | rhizomelic chondrodysplasia punctata type 2 | AR |
GNPTAB | 607840 | mucolipidosis II alpha/beta; mucolipidosis III alpha/beta | AR |
GP1BA | 606672 | Bernard-Soulier syndrome, type A2 (dominant); platelet type von Willebrand disease; Bernard-Soulier syndrome, type C | AD, AR |
GP1BB | 138720 | Bernard-Soulier syndrome, type C | AR |
GP9 | 173515 | Bernard-Soulier syndrome, type C | AR |
GPC3 | 300037 | Wilms tumor, type 1; Simpson-Golabi-Behmel syndrome, type 1 | XLR |
GPHN | 603930 | Molybdenum cofactor deficiency, complementation group c | AR |
GPSM2 | 609245 | Chudley-McCullough syndrome | AR |
GSS | 601002 | Glutathione synthetase deficiency | AR |
GUSB | 611499 | mucopolysaccharidosis type VII | AR |
GYS2 | 138571 | Glycogen storage disease 0, liver | AR |
HADH | 601609 | 3-hydroxyacyl-CoA dehydrogenase deficiency; familial hyperinsulinemic hypoglycemia type 4 | AR |
HADHA | 600890 | mitochondrial trifunctional protein deficiency; long-chain 3-hydroxyl-CoA dehydrogenase deficiency | AR |
HADHB | 143450 | mitochondrial trifunctional protein deficiency | AR |
HAMP | 606464 | Hemochromatosis, type 2B | AR |
HAX1 | 605998 | autosomal recessive severe congenital neutropenia type 3 | AR |
HBA1 | 141800 | Heinz Body Anemias; alpha-Thalassemia; Hemoglobin H Disease | AD |
HBA2 | 141850 | Heinz Body Anemias; alpha-Thalassemia; Hemoglobin H Disease | AD |
HBB | 141900 | Heinz Body Anemias; Delta-beta thalassemia; dominantly inherited inclusion body beta-thalassemia; sickle cell anemia; resistance to malaria; beta-thalassemia | AD, AR |
HCFC1 | 300019 | mental retardation 3 | XLR |
HESX1 | 601802 | Septooptic dysplasia | AD, AR |
HEXA | 606869 | Tay-Sachs disease/ GM2-gangliosidosis | AR |
HEXB | 606873 | Sandhoff disease | AR |
HGD | 607474 | Alkaptonuria | AR |
HGF | 142409 | deafness type 39 | AR |
HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
HMGCS2 | 600234 | HMG-CoA synthase-2 deficiency | AR |
HNF1A | 142410 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Renal carcinoma, chromophobe, somatic; Diabetes mellitus, insulin-dependent-1; MODY type 3 | AD, AR |
HNF1B | 189907 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; MODY type 5; Renal carcinoma, chromophobe, somatic | AD |
HNF4A | 600281 | MODY type 1; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | AD |
HPD | 609695 | Tyrosinemia, type III | AD, AR |
HPGD | 601688 | Digital clubbing, isolated congenital; Cranioosteoarthropathy /Hypertrophic osteoarthropathy, primary, autosomal recessive 1 | AR |
HRAS | 190020 | Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome | AD |
HSD17B10 | 300256 | HSD10 mitochondrial disease | XLD |
HSD17B4 | 601860 | Perrault syndrome type 1; D-bifunctional protein deficiency | AR |
HSD3B2 | 613890 | 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR |
HSD3B7 | 607764 | Bile acid synthesis defect, congenital, 1 | AR |
HSPA9 | 600548 | Sideroblastic anemia type 4 | AD, AR |
HSPD1 | 118190 | spastic paraplegia 13; hypomyelinating leukodystrophy-4 | AD, AR |
HSPG2 | 142461 | Silverman-Handmaker type of dyssegmental dysplasia; Schwartz-Jampel syndrome | AR |
ICOS | 604558 | Immunodeficiency, common variable, 1 | AR |
IDUA | 252800 | mucopolysaccharidosis type IH; mucopolysaccharidosis type 1; mucopolysaccharidosis type IS | AR |
IER3IP1 | 609382 | Microcephaly, epilepsy, and diabetes syndrome | AR |
IFIH1 | 606951 | Singleton-Merten syndrome type 1; Aicardi-Goutieres syndrome 7 | AD |
IFT172 | 607386 | Short-rib thoracic dysplasia 10 with or without polydactyly | AR |
IGF1 | 147440 | Insulin-Like Growth Factor I Deficiency | AR |
IGF1R | 147370 | Insulin-like growth factor I, resistance to | AD, AR |
IGHMBP2 | 600502 | distal hereditary motor neuronopathy type VI; type 2S Charcot-Marie-Tooth disease | AR |
IGLL1 | 146770 | Agammaglobulinemia 2 | AR |
IKBKB | 603258 | AD, AR | |
IL12RB1 | 601604 | Immunodeficiency 30 | AR |
IL2RA | 147730 | Diabetes mellitus, insulin-dependent, 10; Immunodeficiency 41 with lymphoproliferation and autoimmunity | AR |
IL2RG | 308380 | Severe X-linked combined immunodeficiency; moderate X-linked combined immunodeficiency | XLR |
IL7R | 146661 | Severe combined imunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK-cell positive | AR |
INS | 176730 | Diabetes Mellitus, Insulin-Dependent, 2; MODY type 10 | AD, AR |
INSR | 147670 | Donohue syndrome; Rabson-Mendenhall syndrome; Hyperinsulinemic hypoglycemia, familial, 5; Diabetes mellitus, insulin-resistant, with acanthosis nigricans | AD, AR |
INVS | 243305 | nephronophthisis 2 | AR |
IRF8 | 601565 | Immunodeficiency 32A, mycobacteriosis, autosomal dominant | AD, AR |
ITGA2B | 607759 | Bleeding disorder, platelet-type, 16, autosomal dominant; Glanzmann thrombasthenia | AD, AR |
ITGA6 | 147556 | epidermolysis bullosa with pyloric atresia | AR |
ITGA7 | 600536 | Muscular dystrophy, congenital, due to ITGA7 deficiency | AR |
ITGB3 | 173470 | Bleeding disorder, platelet-type, 16, autosomal dominant; Glanzmann thrombasthenia; Myocardial infarction, decreased susceptibility to | AD, AR |
ITGB4 | 147557 | Epidermolysis bullosa simplex, Weber-Cockayne type; junctional epidermolysis bullosa, non-Herlitz type; epidermolysis bullosa with pyloric atresia | AD, AR |
IVD | 607036 | isovaleric acidemia | AR |
JAG1 | 601920 | Alagille syndrome; Tetralogy of Fallot | AD |
JAGN1 | 616012 | Neutropenia, severe congenital, 6, autosomal recessive | AR |
JAK3 | 600173 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative | AR |
JAM3 | 606871 | Hemorrhagic destruction of the brain, subpendymal calcification, and cataracts | AR |
KAT6A | 601408 | mental retardation- 32 | AD |
KAT6B | 605880 | Ohdo syndrome, SBBYS variant; Genitopatellar syndrome | AD |
KBTBD13 | 613727 | Nemaline Myopathy 6 | AD |
KCNE1 | 176261 | Jervell and Lange-Nielsen syndrome 2; long QT syndrome 5 | AD, AR |
KCNH1 | 603305 | Zimmermann- Laband syndrome 1; Temple-Baraitser syndrome | AD |
KCNH2 | 152427 | long QT syndrome 2 | AD |
KCNJ10 | 602208 | autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance | AR |
KCNJ11 | 600937 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; familial hyperinsulinemic hypoglycemia type 2; transient neonatal diabetes mellitus type 3; MODY type 13 | AD, AR |
KCNQ1 | 607542 | long QT syndrome-1; Jervell and Lange-Nielsen syndrome; Atrial fibrillation, familial, 3; Short QT syndrome-2 | AD, AR |
KCNQ2 | 602235 | benign familial neonatal epilepsy; early-onset epileptic encephalopathy 7 | AD |
KCNQ3 | 602232 | Seizures, Benign Familial Neonatal, 2 | AD |
KCNT1 | 608167 | early infantile epileptic encephalopathy 14; nocturnal frontal lobe epilepsy 5 | AD |
KCTD7 | 611725 | progressive myoclonic epilepsy type 3 with or without intracellular inclusions | AR |
KIF1B | 605995 | type 2A1 Charcot-Marie-Tooth disease; pheochromocytoma | AD |
KLF1 | 600599 | Blood group--lutheran inhibitor; Fetal hemoglobin quantitative trait locus 6; Anemia, congenital dyserythropoietic, type iv | AD |
KLHL40 | 615340 | Nemaline myopathy 8, autosomal recessive | AR |
KLHL41 | 607701 | Nemaline myopathy 9 | AR |
KLHL7 | 611119 | Retinitis pigmentosa 42; Cold-induced sweating syndrome 3 | AD, AR |
KRAS | 190070 | Arteriovenous malformations of the brain; Bladder Cancer; familial breast-ovarian cancer type 2; Gastric Cancer, Hereditary Diffuse; Schimmelpenning-Feuerstein-Mims Syndrome; Lung Cancer; Pancreatic Cancer; acute myeloid leukemia; Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type IV; Cardiofaciocutaneous syndrome 2 | AD |
KRT5 | 148040 | epidermolysis bullosa simplex, Dowling-Meara type; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex, recessive 1 | AD, AR |
LAMA2 | 156225 | congenital muscular dystrophy type 1A; limb-girdle Muscular dystrophy type 23 | AR |
LAMA3 | 600805 | junctional epidermolysis bullosa, non-Herlitz type; junctional epidermolysis bullosa, Herlitz-type; laryngoonychocutaneous syndrome | AR |
LAMB3 | 150310 | amelogenesis imperfecta type IA; junctional epidermolysis bullosa, non-Herlitz type; junctional epidermolysis bullosa, Herlitz-type | AD, AR |
LAMC2 | 150292 | junctional epidermolysis bullosa, non-Herlitz type; junctional epidermolysis bullosa, Herlitz-type | AR |
LAMP2 | 309060 | Danon disease | XLD |
LAMTOR2 | 610389 | AR | |
LARS2 | 604544 | Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anemia | AR |
LAS1L | 300964 | Wilson-Turner syndrome | XLR |
LCT | 603202 | AR | |
LHX3 | 600577 | Pituitary hormone deficiency, combined, 3 | AR |
LHX4 | 602146 | Pituitary hormone deficiency, combined, 4 | AD |
LIAS | 607031 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | AR |
LIG4 | 601837 | LIG4 syndrome | AR |
LIPA | 613497 | Wolman disease / cholesteryl ester storage disease | AR |
LIPN | 613924 | Ichthyosis, congenital, autosomal recessive 8 | AR |
LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
LMBRD1 | 612625 | Methylmalonic aciduria and homocystinuria, cblF type | AR |
LMNA | 150330 | dilated cardiomyopathy-1A; Lipodystrophy, familial partial, 2; Hutchinson-Gilford progeria; limb-girdle muscular dystrophy type 1B; Emery-Dreifuss muscular dystrophy 2; Malouf syndrome; Mandibuloacral dysplasia; Restrictive dermopathy, lethal; type 2B1 Charcot-Marie-Tooth disease; Heart-hand syndrome, Slovenian type; Muscular dystrophy, congenital; Emery-Dreifuss muscular dystrophy 3, AR | AD, AR |
LPIN1 | 605518 | Myoglobinuria, acute recurrent, autosomal recessive | AR |
LRBA | 606453 | Immunodeficiency, common variable, 8, with autoimmunity | AR |
LRPPRC | 607544 | Leigh syndrome, French-Canadian type | AR |
LRRC8A | 608360 | Agammaglobulinemia 5 | AD |
MAGEL2 | 605283 | Schaaf-Yang syndrome | AD |
MAGT1 | 300715 | Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia | XLR |
MALT1 | 604860 | Immunodeficiency 12 | AR |
MAN2B1 | 609458 | alpha-mannosidosis | AR |
MANBA | 609489 | Mannosidosis, Beta A, Lysosomal | AR |
MAP2K1 | 176872 | Cardiofaciocutaneous syndrome 3 | AD |
MAP2K2 | 601263 | Cardiofaciocutaneous syndrome 4 | AD |
MAT1A | 610550 | Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency | AD, AR |
MCCC1 | 609010 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
MCCC2 | 609014 | 3-methylcrotonyl-CoA carboxylase 2 deficiency | AR |
MCEE | 608419 | Methylmalonyl-coa epimerase deficiency | AR |
MCM4 | 602638 | Natural killer cell and glucocorticoid deficiency with DNA repair defect | AR |
MCPH1 | 607117 | primary microcephaly 1 | AR |
MECP2 | 300005 | MENTAL RETARDATION, X-LINKED 13; X-linked syndromic mental retardation, Lubs type; Autism susceptibility, X-linked 3; severe neonatal encephalopathy; Rett syndrome | XL, XLD, XLR |
MED12 | 300188 | Opitz-Kaveggia syndrome /FG syndrome-1; Lujan-Fryns syndrome | XLR |
MEF2C | 600662 | mental retardation- 20 | AD |
MEGF10 | 612453 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | AR |
MFN2 | 608507 | hereditary motor and sensory neuropathy type VIA with optic atrophy; axonal Charcot-Marie-Tooth disease type 2A2A; axonal Charcot-Marie-Tooth disease type 2A2B | AD, AR |
MFSD8 | 611124 | neuronal ceroid lipofuscinosis type 7; macular dystrophy with central cone involvement | AR |
MITF | 156845 | Albinism, Ocular, With Sensorineural Deafness; Tietz Syndrome; Waardenburg syndrome type 2A; Melanoma, Cutaneous Malignant, Susceptibility To, 8 | AD, AR |
MKKS | 604896 | McKusick-Kaufman syndrome; Bardet-Biedl syndrome type 6 | AR |
MLC1 | 605908 | megalencephalic leukoencephalopathy with subcortical cysts type 1 | AR |
MLYCD | 606761 | Malonyl-CoA decarboxylase deficiency | AR |
MMAA | 607481 | methylmalonic aciduria (MMA) of the cblA complementation type | AR |
MMAB | 607568 | methylmalonic aciduria (MMA) of the cblB complementation type | AR |
MMACHC | 609831 | Methylmalonic aciduria and homocystinuria, cblC type, digenic type included | AR |
MMADHC | 611935 | methylmalonic aciduria (MMA) of the cblD complementation type | AR |
MMUT | 609058 | complete deficiency of methylmalonyl-CoA mutase | AR |
MOCS1 | 603707 | molybdenum cofactor deficiency of complementation group A | AR |
MOCS2 | 603708 | molybdenum cofactor deficiency of complementation group B | AR |
MPC1 | 614738 | AR | |
MPI | 154550 | congenital disorder of glycosylation type 1b | AR |
MPL | 159530 | somatic myelofibrosis with myeloid metaplasia; thrombocythemia type 2; congenital amegakaryocytic thrombocytopenia | AD, AR |
MPV17 | 137960 | mitochondrial DNA depletion syndrome type 6 | AR |
MPZ | 159440 | type 1B Charcot-Marie-Tooth disease; Dejerine-Sottas syndrom; type 2I Charcot-Marie-Tooth disease; type 2J Charcot-Marie-Tooth disease | AD, AR |
MRPL3 | 607118 | Combined oxidative phosphorylation deficiency 9 | AR |
MRPL44 | 611849 | combined oxidative phosphorylation deficiency type 16 | AR |
MSMO1 | 607545 | Microcephaly, congenital cataract, and psoriasiform dermatitis | AR |
MTHFR | 607093 | schizophrenia; thrombophilia due to thrombin defect; homocystinuria due to MTHFR deficiency; folate-sensitive neural tube defects | AD, AR |
MTM1 | 300415 | X-linked myotubular myopathy | XLR |
MTMR14 | 611089 | Myopathy, centronuclear 1 | AD |
MTO1 | 614667 | Combined oxidative phosphorylation deficiency 10 | AR |
MTR | 156570 | homocystinuria-megaloblastic anemia, cblG complementation type; folate-sensitive neural tube defects | AR |
MTRR | 602568 | Homocystinuria-Megaloblastic Anemia, Cble Complementation Type; folate-sensitive neural tube defects | AR |
MUSK | 601296 | Fetal akinesia deformation sequence; myasthenic syndrome, congenital type 9, associated with acetylcholine receptor deficiency | AR |
MVK | 251170 | Porokeratosis 3, Disseminated Superficial Actinic Type; Hyper-IgD syndrome; Mevalonic aciduria | AD, AR |
MYCN | 164840 | Feingold syndrome | AD |
MYH9 | 160775 | Fechtner syndrome; Macrothrombocytopenia and progressive sensorineural deafness; May-Hegglin anomaly; Sebastian syndrome; deafness type 17 | AD |
NAA10 | 300013 | Ogden syndrome; Microphthalmia, syndromic 1 | XL, XLD, XLR |
NAGA | 104170 | Schindler disease, type I, III | AR |
NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
NALCN | 611549 | Hypotonia, infantile, with psychomotor retardation and characteristic facies; Congenital contractures of the limbs and face, hypotonia, and developmental delay | AD, AR |
NARS2 | 612803 | Combined oxidative phosphorylation deficiency 24 | AR |
NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly; Infantile liver failure syndrome type 2 | AR |
NDUFA1 | 300078 | XLR | |
NDUFA10 | 603835 | AR | |
NDUFA11 | 612638 | AR | |
NDUFA2 | 602137 | AR | |
NDUFA9 | 603834 | AR | |
NDUFAF1 | 606934 | AR | |
NDUFAF2 | 609653 | Mitochondrial complex I deficiency nuclear type 10 | AR |
NDUFAF3 | 612911 | AR | |
NDUFAF4 | 611776 | AR | |
NDUFAF5 | 612360 | AR | |
NDUFAF6 | 612392 | AR | |
NDUFB3 | 603839 | AR | |
NDUFB9 | 601445 | AR | |
NDUFS1 | 157655 | AR | |
NDUFS2 | 602985 | AR | |
NDUFS3 | 603846 | AR | |
NDUFS4 | 602694 | mitochondrial complex I deficiency | AR |
NDUFS6 | 603848 | AR | |
NDUFS7 | 601825 | Mitochondrial complex I deficiency, nuclear type 3 | AR |
NDUFV1 | 161015 | AR | |
NDUFV2 | 600532 | AR | |
NEB | 161650 | nemaline myopathy type 2 | AR |
NEU1 | 608272 | neuraminidase deficiency | AR |
NEUROG3 | 604882 | Diarrhea 4, malabsorptive, congenital | AR |
NEXN | 613121 | dilated cardiomyopathy-1CC; familial hypertrophic cardiomyopathy 20 | AD |
NFKB2 | 164012 | Common variable Immunodeficiency type 10 | AD |
NFU1 | 608100 | Multiple mitochondrial dysfunctions syndrome 1 | AR |
NGF | 162030 | Neuropathy, hereditary sensory and autonomic, type V | AR |
NGLY1 | 610661 | Congenital disorder of deglycosylation | AR |
NHEJ1 | 611290 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | |
NIPAL4 | 609383 | Ichthyosis, congenital, autosomal recessive 6 | AR |
NIPBL | 608667 | Cornelia de Lange syndrome 1 | AD |
NKX2-1 | 600635 | Chorea, Benign Hereditary; Thyroid Carcinoma, Papillary; Choreoathetosis, hypothyroidism, and neonatal respiratory distress | AD |
NKX2-5 | 600584 | Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects; Tetralogy of Fallot; Conotruncal Heart Malformations; Hypothyroidism, Congenital, Nongoitrous, 5; Ventricular septal defect 3; Hypoplastic left heart syndrome 2 | AD |
NLRC4 | 606831 | Autoinflammation with infantile enterocolitis | AD |
NLRP3 | 606416 | Familial Cold Autoinflammatory Syndrome 1; Muckle-Wells syndrome; CINCA syndrome | AD |
NOTCH2 | 600275 | Hajdu-Cheney syndrome; Alagille syndrome 2 | AD |
NPC1 | 607623 | Niemann-Pick disease type C/D | AR |
NPC2 | 601015 | Niemann-Pick disease type C2 | AR |
NPHP1 | 607100 | nephronophthisis 1; Joubert syndrome 4 | AR |
NPHP3 | 608002 | Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7; nephronophthisis 3 | AR |
NR0B1 | 300473 | 46XY sex reversal 2, dosage-sensitive; Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism | XL, XLR |
NR3C2 | 600983 | Pseudohypoaldosteronism type I, autosomal dominant | AD |
NRAS | 164790 | colorectal cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Neurocutaneous melanosis, somatic; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type IV | AD |
NSD1 | 606681 | Sotos syndrome 1 | AD |
NSDHL | 300275 | CK syndrome; CHILD syndrome | XLD, XLR |
NUBPL | 613621 | AR | |
OAT | 613349 | Gyrate atrophy of choroid and retina with or without ornithinemia | AR |
OCLN | 602876 | Band-like calcification with simplified gyration and polymicrogyria | AR |
OCRL | 300535 | Dent disease type 2; Lowe oculocerebrorenal syndrome | XLR |
OPA3 | 606580 | Optic atrophy type 3 with cataract; 3-methylglutaconic aciduria type III | AD, AR |
OPHN1 | 300127 | X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance | XLR |
ORC1 | 601902 | Meier-gorlin syndrome 1 | AR |
ORC4 | 603056 | meier-gorlin syndrom 2 | AR |
OTC | 300461 | ornithine transcarbamylase deficiency | XLR |
OXCT1 | 601424 | Succinyl CoA:3-oxoacid CoA transferase deficiency | AR |
PAFAH1B1 | 601545 | lissencephaly type 1 | AD |
PAH | 612349 | phenylketonuria | AR |
PAX2 | 167409 | Papillorenal syndrome | AD |
PAX3 | 606597 | Waardenburg syndrome, type 3; Waardenburg syndrome type 1 | AD, AR |
PAX6 | 607108 | Aniridia 1; foveal hypoplasia type 1 | AD |
PAX8 | 167415 | Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | AD |
PC | 608786 | pyruvate carboxylase deficiency | AR |
PCBD1 | 126090 | Hyperphenylalaninemia, BH4-deficient, D | AR |
PCCA | 232000 | propionic acidemia | AR |
PCCB | 232050 | propionic acidemia | AR |
PCDH19 | 300460 | early infantile epileptic encephalopathy type 9 | XL |
PCNT | 605925 | microcephalic osteodysplastic primordial dwarfism type 2 | AR |
PDCD10 | 609118 | Cerebral cavernous malformations 3 | |
PDE10A | 610652 | Dyskinesia, limb and orofacial, infantile-onset | AD, AR |
PDHA1 | 300502 | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | |
PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
PDP1 | 605993 | Pyruvate dehydrogenase phosphatase deficiency | AR |
PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
PDX1 | 600733 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Pancreatic Agenesis, Congenital; MODY type 4 | AD, AR |
PEPD | 613230 | Prolidase deficiency | AR |
PEX1 | 602136 | Peroxisome biogenesis disorder type 1A (Zellweger); Heimler syndrome type 1; peroxisome biogenesis disorder type 1B | AR |
PEX10 | 602859 | peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B | AR |
PEX12 | 601758 | peroxisome biogenesis disorder type 3B; peroxisome biogenesis disorder type 3A (Zellweger) | AR |
PEX13 | 601789 | peroxisome biogenesis disorder 11A (Zellweger); peroxisome biogenesis disorder 11B | AR |
PEX14 | 601791 | peroxisome biogenesis disorder 13A (Zellweger) | AR |
PEX16 | 603360 | peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B | AR |
PEX19 | 600279 | peroxisome biogenesis disorder 12A (Zellweger) | AR |
PEX2 | 170993 | peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B | AR |
PEX26 | 608666 | peroxisome biogenesis disorder type 7A (Zellweger); peroxisome biogenesis disorder 7B | AR |
PEX3 | 603164 | peroxisome biogenesis disorder 10A (Zellweger) | AR |
PEX5 | 600414 | peroxisome biogenesis disorder 2B (Zellweger); peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata, type 5 | AR |
PEX6 | 601498 | peroxisome biogenesis disorder type 4A (Zellweger); peroxisome biogenesis disorder type 4B; Heimler syndrome type 2 | AD, AR |
PEX7 | 601757 | Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) | AR |
PGAP1 | 611655 | mental retardation 42 | AR |
PGM1 | 171900 | congenital disorder of glycosylation type 1t | AR |
PHGDH | 606879 | Neu-Laxova syndrome type 1; Phosphoglycerate dehydrogenase deficiency | AR |
PHKG2 | 172471 | Glycogen storage disease IXc | AR |
PHOX2B | 603851 | congenital central hypoventilation syndrome | AD |
PIGA | 311770 | Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2 | XLR |
PIGN | 606097 | Multiple congenital anomalies-hypotonia-seizures syndrome type 1 | AR |
PIGT | 610272 | multiple congenital anomalies-hypotonia-seizures syndrome-3 | AD, AR |
PIGV | 610274 | Hyperphosphatasia with mental retardation syndrome type 1 | AR |
PIK3CD | 602839 | Immunodeficiency 14 | AD |
PKD2 | 173910 | polycystic kidney disease type 2 | AD |
PKHD1 | 606702 | polycystic kidney disease type 4 with or without polycystic liver disease | AR |
PKLR | 609712 | pyruvate kinase deficiency | AD, AR |
PLCB4 | 600810 | Auriculocondylar syndrome 2 | AD, AR |
PLEC | 601282 | epidermolysis bullosa simplex, Ogna type; epidermolysis bullosa simplex with muscular dystrophy; epidermolysis bullosa simplex with pyloric atresia; limb-girdle muscular dystrophy type 2Q | AD, AR |
PLOD1 | 153454 | Ehlers-Danlos syndrome kyphoscoliotic type 1 | AR |
PLP1 | 300401 | Pelizaeus-Merzbacher disease; spastic paraplegia 2 | XLR |
PMM2 | 601785 | congenital disorder of glycosylation type 1a | AR |
PMP22 | 601097 | type 1A Charcot-Marie-Tooth disease; Dejerine-Sottas syndrom; Neuropathy, recurrent, with pressure palsies | ?AD, AD, AR |
PNKP | 605610 | type 2B2 Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 10 | AR |
PNP | 164050 | Purine nucleoside phosphorylase deficiency | AR |
PNPLA1 | 612121 | Ichthyosis, congenital, autosomal recessive 10 | AR |
PNPO | 603287 | Pyridoxamine 5'-phosphate oxidase deficiency | AR |
PNPT1 | 610316 | Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70 | AR |
POGZ | 614787 | White-Sutton syndrome | AD |
POLG | 174763 | progressive external ophthalmoplegia; mitochondrial DNA depletion syndrome type 4A; autosomal recessive progressive external ophthalmoplegia; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; mitochondrial DNA depletion syndrome type 4B | AD, AR |
POLG2 | 604983 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | AD, AR |
POMGNT1 | 606822 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B3; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C3; retinitis pigmentosa type 76 | AR |
POMGNT2 | 614828 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8 | AR |
POMK | 615247 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A12; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type C12 | AR |
POMT1 | 607423 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C1; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B1 | AR |
POMT2 | 607439 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C2 | AR |
POU1F1 | 173110 | Pituitary hormone deficiency, combined, 1 | AD, AR |
PPT1 | 600722 | neuronal ceroid lipofuscinosis type 1 | AR |
PRDM16 | 605557 | left ventricular noncompaction 8 | AD |
PRKAG2 | 602743 | Wolff-Parkinson-White syndrome; fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; familial hypertrophic cardiomyopathy 6 | AD |
PROC | 612283 | autosomal dominant thrombophilia due to protein C deficiency; autosomal recessive thrombophilia due to protein C deficiency | AD, AR |
PRODH | 606810 | Hyperprolinemia, type I; susceptibility to Schizophrenia, 4 | AD, AR |
PROP1 | 601538 | Pituitary hormone deficiency, combined, 2 | AR |
PROS1 | 176880 | autosomal dominant thrombophilia due to protein S deficiency; autosomal recessive thrombophilia due to protein S deficiency | AD, AR |
PRPS1 | 311850 | Phosphoribosylpyrophosphate synthetase superactivity; Arts syndrome; deafness type 1; type X5 Charcot-Marie-Tooth | XL, XLR |
PRRT2 | 614386 | Episodic kinesigenic dyskinesia 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2 | AD |
PSAP | 176801 | metachromatic leukodystrophy due to SAP-b deficiency; atypical Gaucher disease; Combined SAP deficiency; atypical Krabbe disease | AR |
PSAT1 | 610936 | Phosphoserine aminotransferase deficiency; Neu-Laxova syndrome 2 | AR |
PSPH | 172480 | Phosphoserine phosphatase deficiency | AR |
PTPN11 | 176876 | LEOPARD syndrome 1; Noonan syndrome 1; Leukemia, juvenile myelomonocytic | AD |
PTPRC | 151460 | Severe combined imunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK-cell positive; Hepatitis C Virus, Susceptibility To | AR |
PTRH2 | 608625 | infantile-onset multisystem neurologic, endocrine, and pancreatic disease | AR |
PTS | 612719 | Hyperphenylalaninemia, BH4-deficient, A | AR |
PURA | 600473 | mental retardation- 31 | AD |
QDPR | 612676 | Hyperphenylalaninemia, BH4-deficient, C | AR |
RAB18 | 602207 | Warburg micro syndrome 3 | AR |
RAB3GAP1 | 602536 | Warburg micro syndrome 1 | AR |
RAB3GAP2 | 609275 | Martsolf syndrome; Warburg micro syndrome 2 | AR |
RAC2 | 602049 | Neutrophil immunodeficiency syndrome | |
RAF1 | 164760 | Noonan syndrome 5; Cardiomyopathy, dilated, 1NN | AD |
RAG1 | 179615 | Combined cellular and humoral immune defects with granulomas; t cell-negative, b cell-negative, nk cell-positive autosomal recessive severe combined immunodeficiency; Omenn syndrome; Alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection and autoimmunity | AR |
RAG2 | 179616 | Combined cellular and humoral immune defects with granulomas; t cell-negative, b cell-negative, nk cell-positive autosomal recessive severe combined immunodeficiency; Omenn syndrome | AR |
RANBP2 | 601181 | acute infection-induced encephalopathy-3 | AD |
RAPSN | 601592 | congenital myasthenic syndrome, type 11, associated with acetylcholine receptor deficiency | AR |
RARS2 | 611524 | pontocerebellar hypoplasia type 6 | AR |
RB1 | 614041 | Bladder Cancer; retinoblastoma; Osteogenic Sarcoma | AD |
RBBP8 | 604124 | Jawad syndrome / Microcephaly with mental retardation and digital anomalies; Seckel syndrome 2 | AR |
RBM8A | 605313 | Thrombocytopenia-absent radius syndrome | AR |
RET | 164761 | Hirschsprung disease; familial medullary thyroid carcinoma; multiple endocrine neoplasia 2B; pheochromocytoma; multiple endocrine neoplasia 2A; congenital central hypoventilation syndrome | AD |
RFT1 | 611908 | congenital disorder of glycosylation type 1n | AR |
RFX5 | 601863 | MHC class II deficiency, complementation group B | AR |
RFX6 | 612659 | Mitchell-Riley syndrome | AR |
RIT1 | 609591 | Noonan syndrome 8 | AD |
RMND1 | 614917 | Combined oxidative phosphorylation deficiency 11 | AR |
RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
RNASET2 | 612944 | Leukoencephalopathy, cystic, without megalencephaly | AR |
RORC | 602943 | AR | |
RPS19 | 603474 | Diamond-Blackfan anemia 1 | AD |
RRM2B | 604712 | mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | AD, AR |
RXYLT1 | 605862 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A10 | AR |
RYR1 | 180901 | central core disease; malignant hyperthermia; minicore myopathy with external ophthalmoplegia | AD, AR |
SALL1 | 602218 | Townes-Brocks syndrome | AD |
SATB2 | 608148 | SATB2-associated syndrome (SAS) :Glass syndrome | AD |
SBDS | 607444 | Shwachman-Bodian-Diamond syndrome; Aplastic Anemia | AR |
SCN1A | 182389 | generalized epilepsy with febrile seizures plus 2; early infantile epileptic encephalopathy 6; familial hemiplegic migraine-3 | AD |
SCN2A | 182390 | benign familial neonatal-infantile seizures type 3; early infantile epileptic encephalopathy 11 | AD |
SCN4A | 603967 | Paramyotonia congenita; Hyperkalemic periodic paralysis, type 2; Atypical myotonia congenita, acetazolamide-responsive; Hypokalemic periodic paralysis, type 2; Myasthenic syndrome, acetazolamide-responsive | AD, AR |
SCN5A | 600163 | susceptibility to sudden infant death syndrome; Brugada syndrome 1; dilated cardiomyopathy-1E; long QT syndrome 3; Sick sinus syndrome 1; Familial atrial fibrillation type 10 | AD, AR |
SCN9A | 603415 | primary erythermalgia; Paroxysmal extreme pain disorder; INDIFFERENCE TO PAIN, CONGENITAL; generalized epilepsy with febrile seizures plus 7 | AD, AR |
SCO1 | 603644 | Mitochondrial complex IV deficiency | AR, M |
SCO2 | 604272 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6 | AD, AR |
SDHA | 600857 | mitochondrial complex II deficiency; Leigh syndrome; dilated cardiomyopathy-1GG; paragangliomas type 5 | AD, AR, M |
SDHAF1 | 612848 | mitochondrial complex II deficiency | AR |
SELENON | 606210 | Myopathy, congenital, with fiber-type disproportion; rigid spine syndrome | AD, AR |
SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL syndrome). | AR |
SERPINC1 | 107300 | antithrombin III deficiency | AD, AR |
SERPING1 | 606860 | hereditary angioedema type 1 | AD, AR |
SFTPB | 178640 | Surfactant metabolism dysfunction, pulmonary, 1 | AR |
SFTPC | 178620 | Surfactant metabolism dysfunction, pulmonary, 2 | AD |
SHOC2 | 602775 | Noonan Syndrome-Like Disorder With Loose Anagen Hair | AD |
SIL1 | 608005 | Marinesco-Sjogren syndrome | AR |
SIX3 | 603714 | Holoprosencephaly 2; Schizencephaly | AD |
SIX5 | 600963 | Branchiootorenal syndrome 2 | |
SKI | 164780 | Shprintzen-Goldberg Craniosynostosis Syndrome | AD |
SLC12A6 | 604878 | Agenesis of the corpus callosum with peripheral neuropathy | AR |
SLC16A1 | 600682 | Monocarboxylate transporter 1 deficiency | AD, AR |
SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
SLC17A5 | 604322 | infantile sialic acid storage disorder; Salla disease | AR |
SLC19A2 | 603941 | Thiamine-responsive megaloblastic anemia syndrome | AR |
SLC19A3 | 606152 | biotin-thiamine-responsive basal ganglia disease | AR |
SLC22A5 | 603377 | systemic primary carnitine deficiency | AR |
SLC25A1 | 190315 | Combined D-2- and L-2-hydroxyglutaric aciduria | AR |
SLC25A12 | 603667 | Epileptic encephalopathy, early infantile, 39 | AR |
SLC25A13 | 603859 | Citrullinemia, Type Ii, Adult-Onset; Citrullinemia, type II, neonatal-onset | AR |
SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
SLC25A19 | 606521 | Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) | AR |
SLC25A20 | 613698 | Carnitine-acylcarnitine translocase deficiency | AR |
SLC25A22 | 609302 | early infantile epileptic encephalopathy 3 | AR |
SLC25A3 | 600370 | ||
SLC26A2 | 606718 | Diastrophic dysplasia; multiple epiphyseal dysplasia type 4; Atelosteogenesis type II; Achondrogenesis type IB | AR |
SLC26A3 | 126650 | Diarrhea 1, secretory chloride, congenital | AR |
SLC2A1 | 138140 | Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12 | AD, AR |
SLC30A2 | 609617 | AD | |
SLC33A1 | 603690 | spastic paraplegia 42; Congenital cataracts, hearing loss, and neurodegeneration | AD, AR |
SLC3A1 | 104614 | cystinuria | AD, AR |
SLC4A1 | 109270 | Autosomal dominant distal renal tubular acidosis; resistance to malaria; Renal tubular acidosis, distal, with hemolytic anemia; Spherocytosis, type 4 | AD, AR |
SLC52A1 | 607883 | AD | |
SLC52A3 | 613350 | Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1 | AR |
SLC5A1 | 182380 | Glucose/galactose malabsorption | AR |
SLC5A5 | 601843 | Thyroid dyshormonogenesis 1 | AR |
SLC6A1 | 137165 | Myoclonic-atonic epilepsy | AD |
SLC6A3 | 126455 | Tobacco Addiction, Susceptibility To; Parkinsonism-dystonia, infantile | AR |
SLC6A5 | 604159 | Hyperekplexia 3 | AD, AR |
SLC7A7 | 603593 | Lysinuric protein intolerance | AR |
SLC7A9 | 604144 | cystinuria | AD, AR |
SLCO1B1 | 604843 | Hyperbilirubinemia, Rotor type, digenic | DiR |
SLCO1B3 | 605495 | Hyperbilirubinemia, Rotor type, digenic | DiR |
SMPD1 | 607608 | Niemann-Pick disease type A; Niemann-Pick disease type A/B | AR |
SNAI2 | 602150 | Piebaldism; Waardenburg syndrome type 2d | AD, AR |
SNX10 | 614780 | Osteopetrosis, autosomal recessive 8 | AR |
SOS1 | 182530 | Noonan syndrome 4 | AD |
SOX10 | 602229 | PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome, type 4C | AD |
SOX2 | 184429 | Microphthalmia, Syndromic 3 | AD |
SOX9 | 608160 | campomelic dysplasia | AD |
SPAST | 604277 | spastic paraplegia-4 | AD |
SPEG | 615950 | centronuclear myopathy type 5 | AR |
SPINK5 | 605010 | Netherton syndrome | AR |
SPINT2 | 605124 | AR | |
SPR | 182125 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
SPRED1 | 609291 | Legius syndrome | AD |
SPTA1 | 182860 | Elliptocytosis type 2; Pyropoikilocytosis; Spherocytosis, type 3 | AD, AR |
SPTAN1 | 182810 | Epileptic encephalopathy, early infantile, 5 | AD |
SPTB | 182870 | Spherocytosis, type 2; Elliptocytosis 3 | AD |
SRD5A3 | 611715 | congenital disorder of glycosylation type 1q; Kahrizi syndrome | AR |
ST3GAL3 | 606494 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; early infantile epileptic encephalopathy, 15 | AR |
ST3GAL5 | 604402 | Salt and pepper developmental regression syndrome | AR |
STAR | 600617 | Lipoid adrenal hyperplasia | AR |
STAT1 | 600555 | Autosomal recessive Immunodeficiency 31B, mycobacterial and viral infections; Immunodeficiency 31C, autosomal dominant | AD, AR |
STAT3 | 102582 | Hyper-IgE recurrent infection syndrome; infantile-onset multisystem autoimmune disease, 1 | AD |
STIL | 181590 | primary microcephaly 7 | AR |
STIM1 | 605921 | Myopathy, tubular aggregate, 1; Immunodeficiency 10 | AD, AR |
STING1 | 612374 | STING-associated vasculopathy, infantile-onset | AD |
STS | 300747 | ichthyosis | XLR |
STT3B | 608605 | Congenital disorder of glycosylation, type Ix | AR |
STXBP1 | 602926 | early infantile epileptic encephalopathy 4 | AD |
SUCLA2 | 603921 | mitochondrial DNA depletion syndrome 5 | AR |
SUCLG1 | 611224 | mitochondrial DNA depletion syndrome 9 | AR |
SUMF1 | 607939 | multiple sulfatase deficiency | AR |
SUOX | 606887 | Sulfite oxidase deficiency | AR |
SYNE1 | 608441 | autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 | AD, AR |
TACO1 | 612958 | Mitochondrial complex IV deficiency | AR, M |
TAT | 613018 | Tyrosinemia type II | AR |
TAZ | 300394 | Barth syndrome | XLR |
TBC1D24 | 613577 | DOOR syndrome; Myoclonic epilepsy, infantile, familial; Rolandic epilepsy with proxysmal exercise-induced dystonia and writer's cramp; deafness type 86; Epileptic encephalopathy, early infantile, 16; deafness type 65 | AD, AR |
TBCE | 604934 | Hypoparathyroidism-retardation-dysmorphism syndrome(SANJAD-SAKATI SYNDROME) | AR |
TBX19 | 604614 | Adrenocorticotropic hormone deficiency | AR |
TBX5 | 601620 | Holt-Oram syndrome | AD |
TCAP | 604488 | limb-girdle muscular dystrophy type 2G; cardiomyopathy, familial hypertrophic, 25 | AD, AR |
TCN2 | 613441 | Transcobalamin II deficiency | AR |
TFR2 | 604720 | hemochromatosis type 3 | AR |
TG | 188450 | Thyroid dyshormonogenesis 3 | AR |
TGM1 | 190195 | congenital ichthyosis type 1 | AR |
TH | 191290 | Segawa syndrome | AR |
THRA | 190120 | Hypothyroidism, congenital, nongoitrous, 6 | AD |
TJP2 | 607709 | Hypercholanemia, familial; Cholestasis, progressive familial intrahepatic 4 | AR |
TMCO1 | 614123 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | AR |
TMEM165 | 614726 | Congenital disorder of glycosylation, type IIk | AR |
TMEM70 | 612418 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | AR |
TNFRSF13B | 604907 | Immunodeficiency, common variable, 2; Immunoglobulin a deficiency 2 | AD, AR |
TNFRSF13C | 606269 | Immunodeficiency, common variable, 4 | AR |
TNFSF4 | 603594 | Myocardial infarction, decreased susceptibility to | |
TNNT1 | 191041 | Nemaline myopathy 5, Amish type | AR |
TP63 | 603273 | ADULT syndrome; Hay-Wells syndrome; Rapp-Hodgkin syndrome; Limb-mammary syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; Split-hand/foot malformation 4 | AD |
TPM2 | 190990 | Nemaline myopathy type 4, autosomal dominant | AD |
TPM3 | 191030 | Myopathy, congenital, with fiber-type disproportion; Nemaline myopathy 1, autosomal dominant or recessive | AD, AR |
TPO | 606765 | Thyroid dyshormonogenesis 2A | AR |
TPP1 | 607998 | neuronal ceroid lipofuscinosis type 2; autosomal recessive spinocerebellar ataxia type 7 | AR |
TRIP11 | 604505 | Achondrogenesis, type IA | AR |
TRMU | 610230 | Deafness, Aminoglycoside-Induced; Liver Failure, Infantile, Transient | AR, M |
TRPV4 | 605427 | Brachyolmia type 3; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type; Hereditary motor and sensory neuropathy, type IIc | AD |
TSC1 | 605284 | tuberous sclerosis type 1 | AD |
TSC2 | 191092 | tuberous sclerosis-2 | AD |
TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
TSHB | 188540 | Hypothryoidism, congenital, nongoitrous 4 | AR |
TSHR | 603372 | Hypothyroidism, congenital, nongoitrous, 1 | AD, AR |
TSPYL1 | 604714 | AR | |
TTC7A | 609332 | Gastrointestinal defects and immunodeficiency syndrome | AR |
TTN | 188840 | Tibial muscular dystrophy, tardive; Hereditary myopathy with early respiratory failure; dilated cardiomyopathy type 1G; limb-girdle muscular dystrophy type 2J; early-onset myopathy with fatal cardiomyopathy; familial hypertrophic cardiomyopathy type 9 | AD, AR |
TUBA8 | 605742 | Polymicrogyria with optic nerve hypoplasia | AR |
TUBB2A | 615101 | Cortical dysplasia, complex, with other brain malformations 5 | AD |
TWNK | 606075 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3 | AD, AR |
UBA1 | 314370 | X-linked infantile spinal muscular atrophy type 2 | XLR |
UGT1A1 | 191740 | Gilbert syndrome; Crigler-Najjar syndrome type I; familial transient neonatal hyperbilirubinemia; serum level of Bilirubin, QTL1; Crigler-Najjar syndrome type II | AR |
UMPS | 613891 | Orotic aciduria | AR |
UNG | 191525 | Immunodeficiency with hyper IgM, type 5 | AR |
UPB1 | 606673 | Beta-ureidopropionase deficiency | AR |
UQCRC2 | 191329 | Mitochondrial complex III deficiency, nuclear type 5 | AR |
UROD | 613521 | hepatoerythropoietic porphyria | AD, AR |
UROS | 606938 | Porphyria, congenital erythropoietic | AR |
WAS | 300392 | Neutropenia, severe congenital, X-linked; Wiskott-Aldrich syndrome; Thrombocytopenia 1 | XLR |
WDPCP | 613580 | Bardet-Biedl syndrome 15 | AR |
WDR62 | 613583 | primary microcephaly 2 | AR |
WDR73 | 616144 | Galloway syndrome | AR |
WFS1 | 606201 | congenital nuclear cataract type 41; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome | AD, AR |
WNK1 | 605232 | Neuropathy, hereditary sensory and autonomic, type II; Pseudohypoaldosteronism, type IIC | AD, AR |
WT1 | 607102 | Frasier syndrome; Mesothelioma, somatic; Wilms tumor, type 1; Denys-Drash syndrome; Nephrotic syndrome, type 4; Meacham syndrome | AD |
ZAP70 | 176947 | Selective T-cell defect | AR |
ZEB2 | 605802 | Mowat-Wilson syndrome | AD |
ZFP57 | 612192 | Diabetes mellitus, transient neonatal, 1 | AD |
ZNF423 | 604557 | nephronophthisis 14; Joubert syndrome 19 | AD, AR |
Common syndromes and disorders covered
Alagille syndrome
Alpha-Thalassemia
Arginase deficiency
Beta-Thalassemia
Biotinidase deficiency
Biotin-thiamine-responsive basal ganglia disease
Carnitine deficiency
Cystic Fibrosis
Dystonia DOPA responsive
Factor VII deficiency
Glucose transporter 1 deficiency
Glutaric acidemia Type 1
Hereditary fructose intolerance
Holocarboxylase synthetase deficiency
Maple syrup urine disease (MSUD)
Non ketotic hyperglicinemia
Phenylketonuria
Pompe disease
Primary coenzyme Q10 deficiency
Pyridoxamine 5 phosphate oxidase deficiency
Pyridoxine-dependent epilepsy
Pyruvate carboxylase deficiency
Tuberous sclerosis complex
Tyrosinemia type I
VLCAD deficiency
*List does not include all disorders covered by our panel
CentoMito® Comprehensive
CentoMito® Comprehensive covers the entire mitochondrial genome (≥97% ≥ 200x coverage) with detection of heteroplasmy down to 5% along with nuclear genes related to mitochondrial diseases (≥99.5% ≥20x coverage). Mitochondrial diseases are genetic conditions that occur when mitochondria fails to produce enough energy for the cell. Genetic mutations related to mitochondria cause symptoms mainly in the organs, where energetic consumption is high. These organs include the eye, kidney, pancreas, blood, inner ear, colon, skeletal muscle, heart, and brain.
No. of genes: | 404 |
TAT: | 25 days |
Coverage: | ≥99.5% ≥20x (nuclear mitochondrial genes) ≥97% ≥200x |
Details: | CNV analysis included |
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure | AR |
AASS | 605113 | Hyperlysinemia | AR |
ABAT | 137150 | GABA-transaminase deficiency | AR |
ABCB6 | 605452 | Dyschromatosis universalis hereditaria 3 | AD |
ABCB7 | 300135 | Anemia, Sideroblastic, and Spinocerebellar Ataxia | XLR |
ABCD1 | 300371 | adrenoleukodystrophy | XLR |
ABCD3 | 170995 | congenital bile acid synthesis defect-5 | AR |
ACACA | 200350 | Acetyl-CoA carboxylase deficiency | AR |
ACAD8 | 604773 | AR | |
ACAD9 | 611103 | Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of | AR |
ACADM | 607008 | medium chain acyl-CoA dehydrogenase deficiency | AR |
ACADS | 606885 | short-chain acyl-CoA dehydrogenase deficiency | AR |
ACADSB | 600301 | 2-methylbutyrylglycinuria | AR |
ACADVL | 609575 | very long chain acyl-CoA dehydrogenase deficiency | AR |
ACAT1 | 607809 | alpha-methylacetoacetic aciduria | AR |
ACO2 | 100850 | Infantile cerebellar-retinal degeneration | AR |
ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency | AR |
ACSF3 | 614245 | Combined malonic and methylmalonic aciduria | |
ACSL4 | 300157 | mental retardation 63 | XLD |
AFG3L2 | 604581 | spinocerebellar ataxia 28; spastic ataxia 5 | AD, AR |
AGK | 610345 | Sengers syndrome; autosomal recessive cataract type 38 | AR |
AGXT | 604285 | primary hyperoxaluria type 1 | AR |
AIFM1 | 300169 | Deafness, X-linked 5; Combined oxidative phosphorylation deficiency 6; Cowchock syndrome | XLR |
AK2 | 103020 | Reticular dysgenesis | AR |
ALAS2 | 301300 | X-linked sideroblastic anemia; Protoporphyria, erythropoietic, X-linked | XL, XLR |
ALDH18A1 | 138250 | Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 | AD, AR |
ALDH2 | 100650 | 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 | pyridoxine-dependent epilepsy | AR |
AMACR | 604489 | Alpha-methylacyl-CoA racemase deficiency | AR |
AMT | 238310 | glycine encephalopathy | AR |
APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
ATIC | 601731 | AR | |
ATP5F1A | 164360 | Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 ?; Combined oxidative phosphorylation deficiency 22 ? | AR |
ATP5F1E | 606153 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 | |
ATP7B | 606882 | Wilson disease | AR |
ATPAF2 | 608918 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | AR |
ATXN2 | 601517 | Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 2 | AD |
AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
BAX | 600040 | colorectal cancer; Acute lymphoblastic leukemia | |
BCKDHA | 608348 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
BCKDHB | 248611 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
BCKDK | 614901 | BCKDK deficiency | |
BCL2 | 151430 | ||
BCS1L | 603647 | Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome | AR, M |
BOLA3 | 613183 | Multiple mitochondrial dysfunctions syndrome 2 | AR |
BRIP1 | 605882 | familial breast-ovarian cancer type 2; Fanconi anemia of complementation group J | AD |
BTD | 609019 | biotinidase deficiency | AR |
C12orf65 | 613541 | Combined oxidative phosphorylation deficiency 7 | AR |
CA5A | 114761 | Hyperammonemia due to carbonic anhydrase VA deficiency | AR |
CASP8 | 601763 | familial breast-ovarian cancer type 2; Hepatocellular Carcinoma; Lung Cancer | AD, AR |
CAT | 115500 | ||
CAVIN1 | 603198 | Lipodystrophy, congenital generalized, type 4 | AR |
CEL | 114840 | MODY type 8 | AD |
CHCHD10 | 615903 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | AD |
CISD2 | 611507 | Wolfram syndrome 2 | AR |
CLPB | 616254 | 3-methylglutaconic aciduria type VII with cataracts, neurologic involvement and neutropenia | AR |
CLPP | 601119 | Perrault syndrome 3 | AR |
COA5 | 613920 | AR | |
COA6 | 614772 | AR | |
COA8 | 616003 | Mitochondrial complex IV deficiency | AR, M |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12 | AR |
COMT | 116790 | schizophrenia | ?AD, AD |
COQ2 | 609825 | Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1 | AD, AR |
COQ4 | 612898 | primary coenzyme Q10 deficiency type 7 | AR |
COQ6 | 614647 | Coenzyme Q10 deficiency, primary, 6 | AR |
COQ8A | 606980 | primary Coenzyme Q10 deficiency type 4 - COQ10D4 | AR |
COQ8B | 615567 | Nephrotic syndrome, type 9 | AR |
COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
COX10 | 602125 | Mitochondrial complex IV deficiency; Leigh syndrome | AR, M |
COX14 | 614478 | Mitochondrial complex IV deficiency | AR, M |
COX15 | 603646 | Leigh syndrome; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | AR, M |
COX20 | 614698 | Mitochondrial complex IV deficiency | AR, M |
COX4I2 | 607976 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis | AR |
COX6A1 | 602072 | intermediate type D Charcot-Marie-Tooth | AR |
COX6B1 | 124089 | Mitochondrial complex IV deficiency | AR, M |
COX7B | 300885 | Linear skin defects with multiple congenital anomalies 2 | XLD |
CPOX | 612732 | Coproporphyria, hereditary | AD, AR |
CPS1 | 608307 | carbamoyl-phosphate synthetase 1 deficiency | AR |
CPT1A | 600528 | hepatic CPT deficiency type IA | AR |
CPT1C | 608846 | spastic paraplegia 73 | AD |
CPT2 | 600650 | stress-induced myopathic CPT II deficiency; infantile CPT deficiency; lethal neonatal CPT II deficiency; susceptibility to infection-induced acute encephalopathy type 4 | AD, AR |
CRBN | 609262 | mental retardation 2 | AR |
CYB5A | 613218 | methemoglobinemia and ambiguous genitalia | AR |
CYB5R3 | 613213 | methemoglobinemia type I | AR |
CYC1 | 123980 | Mitochondrial complex III deficiency, nuclear type 6 | AR |
CYCS | 123970 | Thrombocytopenia 4 | AD |
CYP11A1 | 118485 | Adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete | |
CYP11B1 | 610613 | Glucocorticoid-Remediable Aldosteronism; Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency | AD, AR |
CYP11B2 | 124080 | congenita hypoaldosteronism due to CMO I deficiency; congenital hypoaldosteronism due to CMO II deficiency | AR |
CYP24A1 | 126065 | Hypercalcemia, infantile | AR |
CYP27A1 | 606530 | cerebrotendinous xanthomatosis | AR |
CYP27B1 | 609506 | vitamin D-dependent rickets type 1A | AR |
D2HGDH | 609186 | D-2-Hydroxyglutaric Aciduria 1 | AR |
DARS2 | 610956 | leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
DBT | 248610 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
DGUOK | 601465 | mitochondrial DNA depletion syndrome 3 | AR |
DHCR24 | 606418 | Desmosterolosis | AR |
DHODH | 126064 | Miller syndrome | AR |
DHTKD1 | 614984 | 2-aminoadipic 2-oxoadipic aciduria; type 2Q Charcot-Marie-Tooth disease | AD, AR |
DIABLO | 605219 | Deafness, autosomal dominant 64 | AD |
DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
DLD | 238331 | dihydrolipoamide dehydrogenase deficiency | AR |
DMGDH | 605849 | Dimethylglycine dehydrogenase deficiency | AR |
DMPK | 605377 | myotonic dystrophy type 1 | AD |
DNA2 | 601810 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6 | AD, AR |
DNAJC19 | 608977 | 3-methylglutaconic aciduria, type 5 | AR |
DNAJC3 | 601184 | combined cerebellar and peripheral ataxia with hearing loss and diabetes mellitus | AR |
DNM1L | 603850 | Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission | AD, AR |
EARS2 | 612799 | Combined oxidative phosphorylation deficiency 12 | AR |
ECHS1 | 602292 | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | AR |
ELAC2 | 605367 | Prostate Cancer, Hereditary, 2; Combined oxidative phosphorylation deficiency 17 | AR |
EPHX2 | 132811 | familial hypercholesterolemia | AD |
ETFA | 608053 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETFB | 130410 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETFDH | 231675 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETHE1 | 608451 | ethylmalonic encephalopathy | AR |
FAH | 613871 | tyrosinemia type 1 | AR |
FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14; spastic paraplegia type 77 | AR |
FASTKD2 | 612322 | AR | |
FBXL4 | 605654 | mitochondrial DNA depletion syndrome 13 | AR |
FECH | 612386 | Protoporphyria, erythropoietic, autosomal recessive | AR |
FH | 136850 | Leiomyomatosis and renal cell cancer; Fumarase deficiency | AD, AR |
FKBP10 | 607063 | Bruck syndrome 1; osteogenesis imperfecta type 11 | AR |
FOXRED1 | 613622 | AR | |
FTH1 | 134770 | AD | |
FXN | 606829 | Friedreich ataxia | AR |
GARS1 | 600287 | Neuropathy, distal hereditary motor, type V; type 2D Charcot-Marie-Tooth disease | AD |
GATM | 602360 | Cerebral creatine deficiency syndrome 3 | AD, AR |
GCDH | 608801 | glutaric academia type I | AR |
GCSH | 238330 | glycine encephalopathy | AR |
GDAP1 | 606598 | type 4A Charcot-Marie-Tooth disease; type 2K Charcot-Marie-Tooth disease | AD, AR |
GFER | 600924 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | |
GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
GFM2 | 606544 | AR | |
GK | 300474 | Glycerol kinase deficiency | XLR |
GLDC | 238300 | glycine encephalopathy | AR |
GLRX5 | 609588 | Anemia, sideroblastic, 3, pyridoxine-refractory | AR |
GLUD1 | 138130 | familial hyperinsulinemic hypoglycemia-6 | AD |
GLYCTK | 610516 | D-glyceric aciduria | AR |
GPI | 172400 | nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency | AR |
GPT2 | 138210 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 | AR |
GPX1 | 138320 | Hemolytic anemia due to glutathione peroxidase deficiency | AR |
GRHPR | 604296 | primary hyperoxaluria type II | AR |
GSR | 138300 | AR | |
GTPBP3 | 608536 | Combined oxidative phosphorylation deficiency 23 | AR |
HADH | 601609 | 3-hydroxyacyl-CoA dehydrogenase deficiency; familial hyperinsulinemic hypoglycemia type 4 | AR |
HADHA | 600890 | mitochondrial trifunctional protein deficiency; long-chain 3-hydroxyl-CoA dehydrogenase deficiency | AR |
HADHB | 143450 | mitochondrial trifunctional protein deficiency | AR |
HAMP | 606464 | Hemochromatosis, type 2B | AR |
HARS2 | 600783 | AR | |
HAX1 | 605998 | autosomal recessive severe congenital neutropenia type 3 | AR |
HCCS | 300056 | Microphthalmia, syndromic 7 | XLD |
HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
HINT1 | 601314 | Neuromyotonia and axonal neuropathy, autosomal recessive | AR |
HK1 | 142600 | Hemolytic anemia due to hexokinase deficiency; Neuropathy, hereditary motor and sensory, Russe type; Retinitis pigmentosa 79; Neurodevelopmental disorder with visual defects and brain anomalies | AD, AR |
HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
HMBS | 609806 | acute intermittent porphyria | AD |
HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
HMGCS2 | 600234 | HMG-CoA synthase-2 deficiency | AR |
HOGA1 | 613597 | primary hyperoxaluria type III | AR |
HSD17B10 | 300256 | HSD10 mitochondrial disease | XLD |
HSD17B4 | 601860 | Perrault syndrome type 1; D-bifunctional protein deficiency | AR |
HSD3B2 | 613890 | 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR |
HSPA9 | 600548 | Sideroblastic anemia type 4 | AD, AR |
HSPD1 | 118190 | spastic paraplegia 13; hypomyelinating leukodystrophy-4 | AD, AR |
HTRA2 | 606441 | Parkinson disease 13; 3-methylglutaconic aciduria, type VIII | AR |
IARS2 | 612801 | Cataracts, Growth Hormone Deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia | AR |
IBA57 | 615316 | Multiple mitochondrial dysfunctions syndrome 3 | AR |
IDH2 | 147650 | D-2-hydroxyglutaric aciduria 2 | |
IDH3B | 604526 | Retinitis pigmentosa 46 | |
ISCA2 | 615317 | Multiple mitochondrial dysfunctions syndrome type 4 | AR |
ISCU | 611911 | AR | |
IVD | 607036 | isovaleric acidemia | AR |
KARS1 | 601421 | CHARCOT-MARIE-TOOTH, RECESSIVE INTERMEDIATE TYPE B; Deafness, autosomal recessive 89 | AR |
KIF1B | 605995 | type 2A1 Charcot-Marie-Tooth disease; pheochromocytoma | AD |
KRT5 | 148040 | epidermolysis bullosa simplex, Dowling-Meara type; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex, recessive 1 | AD, AR |
L2HGDH | 609584 | L-2-hydroxyglutaric aciduria | AR |
LARS2 | 604544 | Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anemia | AR |
LIAS | 607031 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | AR |
LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
LONP1 | 605490 | CODAS syndrome | AR |
LRPPRC | 607544 | Leigh syndrome, French-Canadian type | AR |
LYRM7 | 615831 | Mitochondrial complex III deficiency nuclear type 8 | AR |
MAOA | 309850 | Brunner syndrome | XLR |
MARS2 | 609728 | AR | |
MCCC1 | 609010 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
MCCC2 | 609014 | 3-methylcrotonyl-CoA carboxylase 2 deficiency | AR |
MCEE | 608419 | Methylmalonyl-coa epimerase deficiency | AR |
MFN2 | 608507 | hereditary motor and sensory neuropathy type VIA with optic atrophy; axonal Charcot-Marie-Tooth disease type 2A2A; axonal Charcot-Marie-Tooth disease type 2A2B | AD, AR |
MGME1 | 615076 | mitochondrial DNA depletion syndrome 11 | AR |
MICU1 | 605084 | Myopathy with extrapyramidal signs | AR |
MIP | 154050 | AD | |
MLH1 | 120436 | Muir-Torre syndrome; mismatch repair cancer syndrome; hereditary nonpolyposis colorectal cancer-2 | AD, AR |
MLYCD | 606761 | Malonyl-CoA decarboxylase deficiency | AR |
MMAA | 607481 | methylmalonic aciduria (MMA) of the cblA complementation type | AR |
MMAB | 607568 | methylmalonic aciduria (MMA) of the cblB complementation type | AR |
MMACHC | 609831 | Methylmalonic aciduria and homocystinuria, cblC type, digenic type included | AR |
MMADHC | 611935 | methylmalonic aciduria (MMA) of the cblD complementation type | AR |
MMUT | 609058 | complete deficiency of methylmalonyl-CoA mutase | AR |
MOCS1 | 603707 | molybdenum cofactor deficiency of complementation group A | AR |
MPC1 | 614738 | AR | |
MPV17 | 137960 | mitochondrial DNA depletion syndrome type 6 | AR |
MRPL3 | 607118 | Combined oxidative phosphorylation deficiency 9 | AR |
MRPL44 | 611849 | combined oxidative phosphorylation deficiency type 16 | AR |
MRPS16 | 609204 | combined oxidative phosphorylation deficiency 2 | AR |
MRPS22 | 605810 | Combined oxidative phosphorylation deficiency 5 | AR |
MSRB3 | 613719 | Deafness, autosomal recessive 74 | AR |
MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15 | AR |
MTO1 | 614667 | Combined oxidative phosphorylation deficiency 10 | AR |
MTPAP | 613669 | AR | |
MTRR | 602568 | Homocystinuria-Megaloblastic Anemia, Cble Complementation Type; folate-sensitive neural tube defects | AR |
MUTYH | 604933 | familial adenomatous polyposis type 2; Gastric Cancer | AR |
NADK2 | 615787 | AR | |
NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
NARS2 | 612803 | Combined oxidative phosphorylation deficiency 24 | AR |
NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly; Infantile liver failure syndrome type 2 | AR |
NDUFA1 | 300078 | XLR | |
NDUFA10 | 603835 | AR | |
NDUFA11 | 612638 | AR | |
NDUFA12 | 614530 | Mitochondrial complex I deficiency nuclear type 23 | AR |
NDUFA2 | 602137 | AR | |
NDUFA9 | 603834 | AR | |
NDUFAF1 | 606934 | AR | |
NDUFAF2 | 609653 | Mitochondrial complex I deficiency nuclear type 10 | AR |
NDUFAF3 | 612911 | AR | |
NDUFAF4 | 611776 | AR | |
NDUFAF5 | 612360 | AR | |
NDUFAF6 | 612392 | AR | |
NDUFB11 | 300403 | Linear skin defects with multiple congenital anomalies type 3; Mitochondrial complex I deficiency, nuclear type 30 | XL, XLD |
NDUFB3 | 603839 | AR | |
NDUFB9 | 601445 | AR | |
NDUFS1 | 157655 | AR | |
NDUFS2 | 602985 | AR | |
NDUFS3 | 603846 | AR | |
NDUFS4 | 602694 | mitochondrial complex I deficiency | AR |
NDUFS6 | 603848 | AR | |
NDUFS7 | 601825 | Mitochondrial complex I deficiency, nuclear type 3 | AR |
NDUFS8 | 602141 | AR | |
NDUFV1 | 161015 | AR | |
NDUFV2 | 600532 | AR | |
NFU1 | 608100 | Multiple mitochondrial dysfunctions syndrome 1 | AR |
NNT | 607878 | Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency | AR |
NTHL1 | 602656 | Familial adenomatous polyposis 3 | AR |
NUBPL | 613621 | AR | |
OAT | 613349 | Gyrate atrophy of choroid and retina with or without ornithinemia | AR |
OGDH | 613022 | AR | |
OGG1 | 601982 | Renal carcinoma, chromophobe, somatic | |
OPA1 | 605290 | Optic atrophy plus syndrome; optic atrophy type 1; Behr syndrome; Glaucoma, normal tension, susceptibility to; Mitochondrial DNA depletion syndrome 14 | AD, AR |
OPA3 | 606580 | Optic atrophy type 3 with cataract; 3-methylglutaconic aciduria type III | AD, AR |
OTC | 300461 | ornithine transcarbamylase deficiency | XLR |
OXCT1 | 601424 | Succinyl CoA:3-oxoacid CoA transferase deficiency | AR |
P4HB | 176790 | Cole-Carpenter syndrome 1 | AD |
PAM16 | 614336 | AR | |
PANK2 | 606157 | neurodegeneration with brain iron accumulation type 1; HARP syndrome | AR |
PARK7 | 602533 | Parkinson disease 7 | AR |
PC | 608786 | pyruvate carboxylase deficiency | AR |
PCCA | 232000 | propionic acidemia | AR |
PCCB | 232050 | propionic acidemia | AR |
PCK2 | 614095 | PEPCK deficiency, mitochondrial | AR |
PDHA1 | 300502 | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | |
PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
PDK3 | 300906 | type X6 Charcot-Marie-Tooth | XLD |
PDP1 | 605993 | Pyruvate dehydrogenase phosphatase deficiency | AR |
PDSS1 | 607429 | Coenzyme Q10 deficiency, primary, 2 | AR |
PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
PDX1 | 600733 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Pancreatic Agenesis, Congenital; MODY type 4 | AD, AR |
PET100 | 614770 | Mitochondrial complex IV deficiency | AR, M |
PEX11B | 603867 | peroxisome biogenesis disorder 14B (Zellweger) | AR |
PHYH | 602026 | Refsum disease | AR |
PINK1 | 608309 | Parkinson disease 6 | AR |
PKLR | 609712 | pyruvate kinase deficiency | AD, AR |
PNPLA8 | 612123 | Mitochondrial myopathy with lactic acidosis | AR |
PNPO | 603287 | Pyridoxamine 5'-phosphate oxidase deficiency | AR |
PNPT1 | 610316 | Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70 | AR |
POLG | 174763 | progressive external ophthalmoplegia; mitochondrial DNA depletion syndrome type 4A; autosomal recessive progressive external ophthalmoplegia; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; mitochondrial DNA depletion syndrome type 4B | AD, AR |
POLG2 | 604983 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | AD, AR |
PPOX | 600923 | variegate porphyria | AD |
PRODH | 606810 | Hyperprolinemia, type I; susceptibility to Schizophrenia, 4 | AD, AR |
PTRH2 | 608625 | infantile-onset multisystem neurologic, endocrine, and pancreatic disease | AR |
PTS | 612719 | Hyperphenylalaninemia, BH4-deficient, A | AR |
PUS1 | 608109 | myopathy, lactic acidosis and sideroblastic anemia type 1 | AR |
PYCR1 | 179035 | autosomal recessive cutis laxa type 2B | AR |
PYCR2 | 616406 | hypomyelinating leukodystrophy-10 | AR |
QDPR | 612676 | Hyperphenylalaninemia, BH4-deficient, C | AR |
RARS1 | 107820 | hypomyelinating leukodystrophy-9 | AR |
RARS2 | 611524 | pontocerebellar hypoplasia type 6 | AR |
RDH11 | 607849 | AR | |
RMND1 | 614917 | Combined oxidative phosphorylation deficiency 11 | AR |
RNASEH1 | 604123 | AR | |
RNASEL | 180435 | Prostate Cancer, Hereditary, 1 | AD |
RPIA | 180430 | AR | |
RPL35A | 180468 | Diamond-Blackfan anemia 5 | AD |
RPS14 | 130620 | ||
RRM2B | 604712 | mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | AD, AR |
SARS2 | 612804 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | AR |
SBDS | 607444 | Shwachman-Bodian-Diamond syndrome; Aplastic Anemia | AR |
SCO1 | 603644 | Mitochondrial complex IV deficiency | AR, M |
SCO2 | 604272 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6 | AD, AR |
SDHA | 600857 | mitochondrial complex II deficiency; Leigh syndrome; dilated cardiomyopathy-1GG; paragangliomas type 5 | AD, AR, M |
SDHAF1 | 612848 | mitochondrial complex II deficiency | AR |
SDHAF2 | 613019 | paragangliomas type 2 | AD |
SDHB | 185470 | paragangliomas type 4; pheochromocytoma; gastrointestinal stromal tumor; paraganglioma and gastric stromal sarcoma | AD |
SDHC | 602413 | Paragangliomas 3; gastrointestinal stromal tumor; paraganglioma and gastric stromal sarcoma | AD |
SDHD | 602690 | paragangliomas 1; pheochromocytoma; mitochondrial complex II deficiency; paraganglioma and gastric stromal sarcoma | AD, AR |
SECISBP2 | 607693 | Thyroid hormone metabolism, abnormal | AR |
SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL syndrome). | AR |
SFXN4 | 615564 | Combined oxidative phosphorylation deficiency 18 | AR |
SLC16A1 | 600682 | Monocarboxylate transporter 1 deficiency | AD, AR |
SLC19A3 | 606152 | biotin-thiamine-responsive basal ganglia disease | AR |
SLC25A1 | 190315 | Combined D-2- and L-2-hydroxyglutaric aciduria | AR |
SLC25A12 | 603667 | Epileptic encephalopathy, early infantile, 39 | AR |
SLC25A13 | 603859 | Citrullinemia, Type Ii, Adult-Onset; Citrullinemia, type II, neonatal-onset | AR |
SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
SLC25A19 | 606521 | Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) | AR |
SLC25A20 | 613698 | Carnitine-acylcarnitine translocase deficiency | AR |
SLC25A22 | 609302 | early infantile epileptic encephalopathy 3 | AR |
SLC25A3 | 600370 | ||
SLC25A38 | 610819 | Anemia, sideroblastic, 2, pyridoxine-refractory | AR |
SLC25A4 | 103220 | Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 2; mitochondrial DNA depletion syndrome 12; mitochondrial DNA depletion syndrome type 12A | AD, AR |
SLC25A46 | 610826 | Neuropathy, hereditary motor and sensory, type VIB | AR |
SLC9A6 | 300231 | Christianson type of X-linked syndromic mental retardation | XLD |
SNAP29 | 604202 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | AR |
SOD1 | 147450 | amyotrophic lateral sclerosis 1 | AD, AR |
SOD2 | 147460 | Microvascular complications of diabetes 6 | |
SPG7 | 602783 | spastic paraplegia 7 | AD, AR |
SPR | 182125 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
SPTLC2 | 605713 | Neuropathy, hereditary sensory and autonomic, type ic | AD |
STAR | 600617 | Lipoid adrenal hyperplasia | AR |
SUCLA2 | 603921 | mitochondrial DNA depletion syndrome 5 | AR |
SUCLG1 | 611224 | mitochondrial DNA depletion syndrome 9 | AR |
SUGCT | 609187 | AR | |
SUOX | 606887 | Sulfite oxidase deficiency | AR |
SURF1 | 185620 | Leigh syndrome | AR, M |
TACO1 | 612958 | Mitochondrial complex IV deficiency | AR, M |
TARS2 | 612805 | Combined oxidative phosphorylation deficiency 21 | AR |
TCIRG1 | 604592 | osteopetrosis type 1 | AR |
TFR2 | 604720 | hemochromatosis type 3 | AR |
TIMM8A | 300356 | Mohr-Tranebjaerg syndrome | XLR |
TK2 | 188250 | mitochondrial DNA depletion syndrome 2 | AR |
TMEM126A | 612988 | Optic Atrophy 7 | AR |
TMEM70 | 612418 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | AR |
TMLHE | 300777 | susceptibility to autism type 6 | XLR |
TPI1 | 190450 | Triosephosphate isomerase deficiency | AR |
TPK1 | 606370 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | AR |
TRMU | 610230 | Deafness, Aminoglycoside-Induced; Liver Failure, Infantile, Transient | AR, M |
TRNT1 | 612907 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | AR |
TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
TTC19 | 613814 | nuclear mitochondrial complex III deficiency type 2 | AR |
TUBB3 | 602661 | Fibrosis of extraocular muscles, congenital, 3A; Cortical dysplasia, complex, with other brain malformations | AD |
TUFM | 602389 | Combined oxidative phosphorylation deficiency 4 | AR |
TWNK | 606075 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3 | AD, AR |
TYMP | 131222 | mitochondrial DNA depletion syndrome 1 | AR |
UNG | 191525 | Immunodeficiency with hyper IgM, type 5 | AR |
UQCC2 | 614461 | 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 |
VARS2 | 612802 | Combined oxidative phosphorylation deficiency 20 | AR |
WDR81 | 614218 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | AR |
WFS1 | 606201 | congenital nuclear cataract type 41; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome | AD, AR |
XPNPEP3 | 613553 | nephronophthisis-like nephropathy 1 | AR |
YARS2 | 610957 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | AR |
Common syndromes and disorders covered
Chronic progressive external ophthalmoplegia
Kearns-Sayre syndrome
Leigh’s syndrome and maternally inherited Leigh’s syndrome
Mitochondrial disorders
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Myoclonus epilepsy with ragged red fibers
Myogastrointestinal encephalomyopathy
NARP
Neonatal mitochondrial hepatopathies
Pearson syndrome
CentoMito® Genome
CentoMito® Genome includes mitochondrial genes. Nuclear mitochondrial genes are not included.
No. of genes: | 37 |
TAT: | 25 days |
Coverage: | ≥97% ≥200x |
Details: | ≥5% mitochondrial heteroplasmy can be confidently detected |
Common syndromes and disorders covered
Chronic progressive external ophthalmoplegia
Kearns-Sayre syndrome
Leber hereditary optic neuropathy
Leigh-like syndrome
Leigh syndrome
Mitochondrial disorders
NARP
CentoNeuroTM
CentoNeuro™ is our largest panel, designed to detect a great array of neurological disorders from neonatal ICU cases to dementia or movement disorders in adults. This panel includes genes related to neurological diseases, such as amyotrophic lateral sclerosis, dementia, Parkinson´s, neuromuscular diseases, Charcot-Marie-Tooth, dystonia, epilepsy, autism, intellectual disability, migraine, spastic paraplegia, ataxia, Leigh syndrome, peroxisomal diseases, epileptic encephalopathies, and movement disorders, among others. Limitations: DMD is only analyzed by NGS. If there is high diagnostic suspicion for Duchenne muscular dystrophy, we recommend that the clinician orders deletion/duplication analysis by MLPA targeted to the DMD gene as an additional service.
No. of genes: | 1493 |
TAT: | 25 days |
Coverage: | ≥99.5% ≥20x |
Details: | CNV analysis included |
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
A2M | 103950 | Alzheimer Disease | AD |
AAAS | 605378 | Achalasia-addisonianism-alacrimia syndrome | AR |
AARS1 | 601065 | type 2N Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 29 | AD, AR |
AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure | AR |
AASS | 605113 | Hyperlysinemia | AR |
ABAT | 137150 | GABA-transaminase deficiency | AR |
ABCA1 | 600046 | Tangier disease; HDL deficiency, type 2 | AR |
ABCB7 | 300135 | Anemia, Sideroblastic, and Spinocerebellar Ataxia | XLR |
ABCC6 | 603234 | Pseudoxanthoma elasticum, forme fruste; Pseudoxanthoma elasticum; generalized arterial calcification of infancy type 2 | AD, AR |
ABCC8 | 600509 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; leucine-sensitive hypoglycemia of infancy; familial hyperinsulinemic hypoglycemia type 1; transient neonatal diabetes mellitus type 2 | AD, AR |
ABCD1 | 300371 | adrenoleukodystrophy | XLR |
ABCD3 | 170995 | congenital bile acid synthesis defect-5 | AR |
ABCD4 | 603214 | Methylmalonic aciduria and homocystinuria, cblJ type | AR |
ABHD12 | 613599 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | AR |
ABHD5 | 604780 | Chanarin-Dorfman syndrome | AR |
ACACA | 200350 | Acetyl-CoA carboxylase deficiency | AR |
ACAD9 | 611103 | Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of | AR |
ACADM | 607008 | medium chain acyl-CoA dehydrogenase deficiency | AR |
ACADS | 606885 | short-chain acyl-CoA dehydrogenase deficiency | AR |
ACADSB | 600301 | 2-methylbutyrylglycinuria | AR |
ACADVL | 609575 | very long chain acyl-CoA dehydrogenase deficiency | AR |
ACAT1 | 607809 | alpha-methylacetoacetic aciduria | AR |
ACE | 106180 | Renal tubular dysgenesis; Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to | AR |
ACKR1 | 613665 | resistance to malaria | AD, AR |
ACO2 | 100850 | Infantile cerebellar-retinal degeneration | AR |
ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency | AR |
ACSF3 | 614245 | Combined malonic and methylmalonic aciduria | |
ACSL4 | 300157 | mental retardation 63 | XLD |
ACTA1 | 102610 | Myopathy, nemaline, 3; Myopathy, congenital, with fiber-type disproportion | AD, AR |
ACTA2 | 102620 | Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5 | AD |
ACTB | 102630 | Baraitser-Winter syndrome 1; Dystonia, juvenile-onset | AD |
ACTG1 | 102560 | Deafness, Autosomal Dominant 20; Baraitser-Winter syndrome 2 | AD |
ACTN4 | 604638 | Glomerulosclerosis, focal segmental, 1 | AD |
ACVRL1 | 601284 | Telangiectasia, hereditary hemorrhagic, type 2 | AD |
ACY1 | 104620 | Aminoacylase 1 deficiency | AR |
ADA | 608958 | Adenosine deaminase deficiency | AR |
ADAM10 | 602192 | Reticulate acropigmentation of Kitamura | AD |
ADAMTSL2 | 612277 | Geleophysic dysplasia 1 | AR |
ADAR | 146920 | Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome type 6 | AD, AR |
ADCY5 | 600293 | Dyskinesia, familial, with facial myokymia | AD |
ADGRG1 | 604110 | bilateral frontoparietal polymicrogyria; bilateral perisylvian polymicrogyria | AR |
ADGRV1 | 602851 | Febrile seizures, familial, 4; Usher syndrome type 2C | AD, AR, DiD |
ADK | 102750 | Hypermethioninemia due to adenosine kinase deficiency | AR |
ADNP | 611386 | Helsmoortel-van der Aa syndrome | AD |
ADSL | 608222 | Adenylosuccinase deficiency | AR |
AFF2 | 300806 | Mental Retardation, X-Linked, Associated With Fragile Site Fraxe | XLR |
AFG3L2 | 604581 | spinocerebellar ataxia 28; spastic ataxia 5 | AD, AR |
AGA | 613228 | Aspartylglucosaminuria | AR |
AGK | 610345 | Sengers syndrome; autosomal recessive cataract type 38 | AR |
AGL | 610860 | glycogen storage disease type III | AR |
AGPS | 603051 | rhizomelic chondrodysplasia punctata type 3 | AR |
AGRN | 103320 | congenital myasthenic syndrome type 8, with pre- and postsynaptic defects | AR |
AGXT | 604285 | primary hyperoxaluria type 1 | AR |
AHCY | 180960 | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | AR |
AHI1 | 608894 | Joubert syndrome 3 | AR |
AIFM1 | 300169 | Deafness, X-linked 5; Combined oxidative phosphorylation deficiency 6; Cowchock syndrome | XLR |
AIMP1 | 603605 | hypomyelinating leukodystrophy-3 | AR |
AKAP9 | 604001 | long QT syndrome 11 | AD |
AKT1 | 164730 | familial breast-ovarian cancer type 2; colorectal cancer; Ovarian Cancer; Proteus Syndrome; Cowden syndrome 6 | |
AKT3 | 611223 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | AD |
ALAD | 125270 | Acute hepatic porphyria | AR |
ALDH18A1 | 138250 | Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 | AD, AR |
ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
ALDH4A1 | 606811 | hyperprolinemia, type II | AR |
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
ALDH7A1 | 107323 | pyridoxine-dependent epilepsy | AR |
ALDOA | 103850 | Glycogen storage disease XII | AR |
ALDOB | 612724 | hereditary fructose intolerance | AR |
ALG1 | 605907 | congenital disorder of glycosylation type 1k | AR |
ALG11 | 613666 | congenital disorder of glycosylation type 1p | AR |
ALG12 | 607144 | congenital disorder of glycosylation type 1g | AR |
ALG13 | 300776 | congenital disorder of glycosylation type 1s | XLD |
ALG14 | 612866 | AR | |
ALG2 | 607905 | congenital disorder of glycosylation type 1i | AR |
ALG3 | 608750 | congenital disorder of glycosylation type 1d | AR |
ALG6 | 604566 | congenital disorder of glycosylation type 1c | AR |
ALG8 | 608103 | congenital disorder of glycosylation type 1h | AD, AR |
ALG9 | 606941 | Gillessen-Kaesbach-Nishimura syndrome; congenital disorder of glycosylation type 1l | AR |
ALOX5AP | 603700 | susceptibility to ischemic stroke | |
ALS2 | 606352 | amyotrophic lateral sclerosis 2; Spastic paralysis, infantile onset ascending | AR |
ALX1 | 601527 | AR | |
ALX3 | 606014 | Frontonasal dysplasia 1 | AR |
ALX4 | 605420 | Parietal foramina 2; Frontonasal dysplasia 2 | AD, AR |
AMACR | 604489 | Alpha-methylacyl-CoA racemase deficiency | AR |
AMN | 605799 | AR | |
AMPD1 | 102770 | Myopathy due to myoadenylate deaminase deficiency | AR |
AMPD2 | 102771 | pontocerebellar hypoplasia 9 | AR |
AMT | 238310 | glycine encephalopathy | AR |
ANG | 105850 | amyotrophic lateral sclerosis 9 | |
ANK2 | 106410 | long QT syndrome-4 | AD |
ANK3 | 600465 | autosomal recessive mental retardation type 37 | AR |
ANKRD11 | 611192 | KBG syndrome | AD |
ANO10 | 613726 | autosomal recessive spinocerebellar ataxia 10 | AR |
ANO3 | 610110 | Dystonia 24 | AD |
ANO5 | 608662 | gnathodiaphyseal dysplasia; limb-girdle muscular dystrophy type 2L | AD, AR |
ANOS1 | 300836 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) | XLR |
ANTXR2 | 608041 | Hyaline fibromatosis syndrome | AR |
AP1S1 | 603531 | MEDNIK syndrome | AR |
AP1S2 | 300629 | Pettigrew syndrome | XLR |
AP3B1 | 603401 | Hermansky-Pudlak syndrome type 2 | AR |
AP4B1 | 607245 | spastic paraplegia 47 | AR |
AP4E1 | 607244 | spastic paraplegia 51 | AD, AR |
AP4M1 | 602296 | autosomal recessive spastic paraplegia type 50 | AR |
AP4S1 | 607243 | spastic paraplegia 52 | AR |
AP5Z1 | 613653 | spastic paraplegia 48 | AR |
APOA1 | 107680 | Amyloidosis, familial visceral | AD |
APOE | 107741 | Alzheimer Disease 2; Sea-blue histiocyte disease; Macular Degeneration, Age-Related, 1; early-onset familial Alzheimer disease-3; Lipoprotein glomerulopathy | AD, AR |
APP | 104760 | Alzheimer Disease; Cerebral Amyloid Angiopathy, App-Related | AD |
APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
AR | 313700 | Prostate Cancer; Androgen insensitivity; X-linked hypospadias type 1; partial androgen insensitivity with or without breast cancer; Spinal and bulbar muscular atrophy of Kennedy | AD, XLR |
ARFGEF2 | 605371 | Periventricular heterotopia with microcephaly | AR |
ARG1 | 608313 | Argininemia | AR |
ARHGAP31 | 610911 | Adams-Oliver syndrome 1 | AD |
ARHGEF10 | 608136 | slowed nerve conduction velocity | AD |
ARHGEF6 | 300267 | ||
ARHGEF9 | 300429 | Epileptic encephalopathy, early infantile, 8 | XLR |
ARID1A | 603024 | Coffin-Siris syndrome type 2 | AD |
ARID1B | 614556 | Coffin-Siris syndrome 1 | AD |
ARL13B | 608922 | Joubert syndrome 8 | AR |
ARL6 | 608845 | Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | AR, DiR |
ARL6IP1 | 607669 | spastic paraplegia 61 | AR |
ARSA | 607574 | metachromatic leukodystrophy | AR |
ARSB | 611542 | mucopolysaccharidosis type VI | AR |
ARSL | 300180 | Chondrodysplasia punctata, X-linked recessive | XLR |
ARV1 | 611647 | early infantile epileptic encephalopathy type 38 | AR |
ARX | 300382 | Proud syndrome; X-linked lissencephaly-2; ARX- related mental retardation; early infantile epileptic encephalopathy 1; Partington X-Linked Mental Retardation Syndrome | XL, XLR |
ASAH1 | 613468 | Spinal muscular atrophy with progressive myoclonic epilepsy; Farber lipogranulomatosis | AR |
ASCL1 | 100790 | congenital central hypoventilation syndrome | AD |
ASL | 608310 | argininosuccinic aciduria | AR |
ASNS | 108370 | Asparagine synthetase deficiency | AR |
ASPA | 608034 | Canavan disease | AR |
ASPM | 605481 | primary microcephaly 5 | AR |
ASS1 | 603470 | citrullinemia | AR |
ASXL1 | 612990 | Bohring-Opitz syndrome; Myelodysplastic syndrome, somatic | AD |
ASXL3 | 615115 | Bainbridge-Ropers syndrome | AD |
ATCAY | 608179 | Ataxia, cerebellar, Cayman type | AR |
ATIC | 601731 | AR | |
ATL1 | 606439 | spastic paraplegia 3A | AD |
ATM | 607585 | familial breast-ovarian cancer type 2; ataxia-telangiectasia | AD, AR |
ATN1 | 607462 | Dentatorubro-pallidoluysian atrophy; congenital hypotonia, epilepsy, developmental delay, and digital anomalies | AD |
ATP13A2 | 610513 | Kufor-Rakeb syndrome; spastic paraplegia type 78 | AR |
ATP1A2 | 182340 | familial hemiplegic migraine type 2 | AD |
ATP1A3 | 182350 | Dystonia 12; Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; Alternating hemiplegia of childhood 2 | AD |
ATP2A1 | 108730 | Brody myopathy | AR |
ATP2A2 | 108740 | Darier disease | AD |
ATP2B3 | 300014 | spinocerebellar ataxia, X-linked 1 | XLR |
ATP5F1E | 606153 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 | |
ATP6AP2 | 300556 | syndromic mental retardation, Hedera type | XLR |
ATP6V0A2 | 611716 | autosomal recessive cutis laxa type IIA; Wrinkly skin syndrome | AR |
ATP7A | 300011 | X-linked distal spinal muscular atrophy type 3; Occipital horn syndrome; Menkes disease | XLR |
ATP7B | 606882 | Wilson disease | AR |
ATP8A2 | 605870 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | AR |
ATPAF2 | 608918 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | AR |
ATR | 601215 | Seckel syndrome 1; ?Cutaneous telangiectasia and cancer syndrome, familial | AD, AR |
ATRX | 300032 | Alpha-Thalassemia Myelodysplasia Syndrome; Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked; Mental retardation-hypotonic facies syndrome, X-linked | XLD, XLR |
ATXN1 | 601556 | spinocerebellar ataxia 1 | AD |
ATXN10 | 611150 | spinocerebellar ataxia 10 | AD |
ATXN2 | 601517 | Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 2 | AD |
ATXN3 | 607047 | spinocerebellar ataxia 3 | AD |
ATXN7 | 607640 | spinocerebellar ataxia 7 | AD |
ATXN8OS | 603680 | Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 8 | AD |
AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
AUTS2 | 607270 | mental retardation- 26 | AD |
B3GALNT2 | 610194 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11 | AR |
B3GLCT | 610308 | Peters-plus syndrome | AR |
B4GALNT1 | 601873 | spastic paraplegia 26 | AR |
B4GALT1 | 137060 | congenital disorder of glycosylation type 2d | AR |
B4GAT1 | 605517 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A13 | AR |
B9D1 | 614144 | Meckel Syndrome, Type 9 | AR |
B9D2 | 611951 | Meckel syndrome 10 | AR |
BAG3 | 603883 | Myopathy, myofibrillar, 6; dilated cardiomyopathy-1HH | AD |
BBS1 | 209901 | Bardet-Biedl syndrome type 1 | AR, DiR |
BBS10 | 610148 | Bardet-Biedl syndrome type 10 | AR |
BBS12 | 610683 | Bardet-Biedl syndrome type 12 | AR |
BBS2 | 606151 | Bardet-Biedl syndrome type 2; retinitis pigmentosa type 74 | AR |
BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
BBS5 | 603650 | Bardet-Biedl syndrome 5 | AR |
BBS7 | 607590 | Bardet-Biedl syndrome type 7 | AR |
BBS9 | 607968 | Bardet-Biedl syndrome type 9 | AR |
BCAP31 | 300398 | Deafness, dystonia, and cerebral hypomyelination; ddch contiguous abcd1/dxs1375e deletion syndrome, included; cadds, included | XLR |
BCKDHA | 608348 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
BCKDHB | 248611 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
BCKDK | 614901 | BCKDK deficiency | |
BCOR | 300485 | Microphthalmia, syndromic 2 | XLD |
BCS1L | 603647 | Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome | AR, M |
BDNF | 113505 | ||
BEAN1 | 612051 | spinocerebellar ataxia 31 | AD |
BEST1 | 607854 | vitelliform macular dystrophy-2; vitreoretinochoroidopathy; Bestrophinopathy, autosomal recessive; Retinitis pigmentosa 50 | AD |
BICD2 | 609797 | autosomal dominant lower extremity-predominant spinal muscular atrophy type 2 | AD |
BIN1 | 601248 | centronuclear myopathy | AR |
BLOC1S3 | 609762 | Hermansky-Pudlak syndrome 8 | AR |
BLOC1S6 | 604310 | Hermansky-pudlak syndrome 9 | AR |
BOLA3 | 613183 | Multiple mitochondrial dysfunctions syndrome 2 | AR |
BRAF | 164757 | Cardiofaciocutaneous Syndrome 1; Lung Cancer; Noonan syndrome 7; LEOPARD syndrome 3 | AD |
BRAT1 | 614506 | Rigidity and multifocal seizure syndrome, lethal neonatal; neurodevelopmental disorder with cerebellar atrophy and with or without seizures | AR |
BRCA2 | 600185 | familial breast-ovarian cancer type 2; Medulloblastoma; Prostate Cancer; Wilms tumor, type 1; Fanconi anemia complementation group D1; pancreatic cancer type 2 | AD, AR |
BRWD3 | 300553 | mental retardation 93 | XLR |
BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy, progressive, with or without lipodystrophy | AD, AR |
BSND | 606412 | Bartter Syndrome type 4A | AR |
BTD | 609019 | biotinidase deficiency | AR |
C12orf57 | 615140 | Temtamy syndrome | AR |
C12orf65 | 613541 | Combined oxidative phosphorylation deficiency 7 | AR |
C19orf12 | 614297 | neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 | AD, AR |
C8orf37 | 614477 | Cone-rod dystrophy 16; Bardet-Biedl syndrome type 21 | AR |
C9orf72 | 614260 | frontotemporal dementia and/or amyotrophic lateral sclerosis | AD |
CA2 | 611492 | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis | AR |
CA5A | 114761 | Hyperammonemia due to carbonic anhydrase VA deficiency | AR |
CA8 | 114815 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 | AR |
CACNA1A | 601011 | episodic ataxia type 2; familial hemiplegic migraine 1; spinocerebellar ataxia 6; early infantile epileptic encephalopathy, 42 | AD |
CACNA1B | 601012 | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | AR |
CACNA1C | 114205 | Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8 | AD |
CACNA1D | 114206 | Sinoatrial node dysfunction and deafness; Primary aldosteronism, seizures, and neurologic abnormalities | AD, AR |
CACNA1F | 300110 | Night blindness, congenital stationary (incomplete), 2A, X-linked; Cone-rod dystropy, X-linked, 3; Aland Island eye disease | XL, XLR |
CACNA1H | 607904 | childhood absence epilepsy type 6 | AD |
CACNA1S | 114208 | hypokalemic periodic paralysis 1; Thyrotoxic periodic paralysis Type 1; Malignant hyperthermia susceptibility 5 | AD |
CACNB2 | 600003 | Brugada syndrome 4 | |
CACNB4 | 601949 | Epilepsy, Idiopathic Generalized, Susceptibility To, 9; Episodic ataxia, type 5 | AD |
CAMTA1 | 611501 | Cerebellar ataxia, nonprogressive, with mental retardation | AD |
CAPN3 | 114240 | limb-girdle muscular dystrophy type 1; limb-girdle muscular dystrophy type 4 | AD, AR |
CARD11 | 607210 | Immunodeficiency 11B with atopic dermatitis | AD, AR |
CASK | 300172 | Fg Syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia | XLD |
CASR | 601199 | Hypocalciuric hypercalcemia, type I; Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant, with Bartter syndrome; Epilepsy idiopathic generalized, susceptibility to, 8 | AD, AR |
CAV1 | 601047 | AD, AR | |
CAV3 | 601253 | Creatine phosphokinase, elevated serum; familial hypertrophic cardiomyopathy 1; Rippling muscle disease; Rippling muscle disease 2; long QT syndrome 9 | AD, DiD |
CBL | 165360 | Leukemia, juvenile myelomonocytic; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | AD |
CBS | 613381 | homocystinuria with or without response to pyridoxine | AR |
CC2D1A | 610055 | mental retardation 3 | AR |
CC2D2A | 612013 | COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 | AR |
CCDC28B | 610162 | Bardet-Biedl syndrome type 1 | AR, DiR |
CCDC40 | 613799 | Ciliary dyskinesia, primary, 15 | |
CCDC78 | 614666 | Myopathy, centronuclear, 4 | AD |
CCDC88C | 611204 | Hydrocephalus, nonsyndromic, autosomal recessive 1; spinocerebellar ataxia type 40 | AD, AR |
CCM2 | 607929 | Cerebral Cavernous Malformations type 2 | AD |
CCT5 | 610150 | Neuropathy, hereditary sensory, with spastic paraplegia | AR |
CD320 | 606475 | Methylmalonic aciduria due to transcobalamin receptor defect | |
CD36 | 173510 | Platelet glycoprotein IV deficiency; resistance to malaria | AR |
CD59 | 107271 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy | AR |
CD96 | 606037 | C syndrome | AD |
CDH15 | 114019 | autosomal dominant mental retardation, 3 | |
CDK5RAP2 | 608201 | primary microcephaly 3 | AR |
CDKL5 | 300203 | early infantile epileptic encephalopathy 2 | XLD |
CDON | 608707 | Holoprosencephaly 11 | AD |
CEL | 114840 | MODY type 8 | AD |
CENPF | 600236 | Stromme syndrome | AR |
CENPJ | 609279 | primary microcephaly 6; Seckel syndrome 4 | AR |
CEP135 | 611423 | primary microcephaly 8 | AR |
CEP152 | 613529 | Seckel syndrome 5; primary microcephaly 9 | AR |
CEP164 | 614848 | nephronophthisis 15 | AR |
CEP290 | 610142 | Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14 | AR |
CEP41 | 610523 | Joubert syndrome 15 | AR |
CEP63 | 614724 | Seckel syndrome 6 | AR |
CERS1 | 606919 | Progressive myoclonic epilepsy-8 | AR |
CFL2 | 601443 | nemaline myopathy type 7 | AR |
CHAT | 118490 | Presynaptic congenital myasthenic syndrome type 6 | AR |
CHCHD10 | 615903 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | AD |
CHD2 | 602119 | childhood-onset epileptic encephalopathy | AD |
CHD7 | 608892 | CHARGE syndrome; hypogonadotropic hypogonadism-5 with or without anosmia | AD |
CHD8 | 610528 | Autism, susceptibility to, 18 | AD |
CHKB | 612395 | Muscular dystrophy, congenital, megaconial type | AR |
CHMP1A | 164010 | pontocerebellar hypoplasia 8 | AR |
CHMP2B | 609512 | Dementia, familial, nonspecific; amyotrophic lateral sclerosis 17 | AD |
CHRM3 | 118494 | Prune belly syndrome | AR |
CHRNA1 | 100690 | Multiple pterygium syndrome, lethal type; Myasthenic syndrome, slow-channel congenital; Myasthenic syndrome, fast-channel congenital | AD, AR |
CHRNA2 | 118502 | Epilepsy, Nocturnal Frontal Lobe, 4 | AD |
CHRNA4 | 118504 | Tobacco Addiction, Susceptibility To; Epilepsy, nocturnal frontal lobe, 1 | AD |
CHRNB1 | 100710 | Myasthenic syndrome, congenital, 2A, slow-channel; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency | AD, AR |
CHRNB2 | 118507 | Epilepsy, nocturnal frontal lobe, 3 | |
CHRND | 100720 | Multiple pterygium syndrome, lethal type; slow-channel congenital myasthenic syndrome type 3A; Congenital fast-channel myasthenic syndrome type 3B; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency | AD, AR |
CHRNE | 100725 | slow-channel congenital myasthenic syndrome type 4A; congenital myasthenic syndrome type 4C, associated with acetylcholine receptor deficiency; fast-channel congenital myasthenic syndrome type 4B | AD, AR |
CHRNG | 100730 | Multiple pterygium syndrome, lethal type; Multiple Pterygium Syndrome, Escobar Variant | AR |
CHST14 | 608429 | Ehlers-Danlos syndrome musculocontractural type 1 | AR |
CHSY1 | 608183 | AR | |
CIB2 | 605564 | deafness type 48; Usher syndrome type 1J | AR |
CILK1 | 612325 | AD, AR | |
CISD2 | 611507 | Wolfram syndrome 2 | AR |
CISH | 602441 | Mycobacterium Tuberculosis, Susceptibility To; resistance to malaria | |
CLCN1 | 118425 | myotonia congenita (Thomsen myotonia); myotonia congenita (Becker myotonia) | AD, AR |
CLCN2 | 600570 | Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Leukoencephalopathy with ataxia | AD, AR |
CLCN4 | 302910 | MENTAL RETARDATION, X-LINKED 49 | XLD |
CLCNKA | 602024 | Bartter syndrome, type 4b, digenic | DiR |
CLCNKB | 602023 | Bartter syndrome, type 3; Bartter syndrome, type 4b, digenic | AR, DiR |
CLDN16 | 603959 | renal hypomagnesemia type 3 | AR |
CLDN19 | 610036 | Hypomagnesemia 5, renal, with ocular involvement | AR |
CLIC2 | 300138 | mental retardation 32 | XLR |
CLN3 | 607042 | neuronal ceroid lipofuscinosis type 3 | AR |
CLN5 | 608102 | neuronal ceroid lipofuscinosis type 5 | AR |
CLN6 | 606725 | adulte onset neuronal ceroid lipofuscinosis, Kufs type; neuronal ceroid lipofuscinosis type 6 | AR |
CLN8 | 607837 | neuronal ceroid lipofuscinosis type 8; neuronal ceroid lipofuscinosistype 8, Northern epilepsy variant | AR |
CLPP | 601119 | Perrault syndrome 3 | AR |
CNBP | 116955 | Myotonic dystrophy 2 | AD |
CNGB3 | 605080 | Achromatopsia type 3 | AR |
CNNM2 | 607803 | Hypomagnesemia 6, renal; hypomagnesemia, seizures, and mental retardation type 1 | AD, AR |
CNTN1 | 600016 | Myopathy, congenital, Compton-North | AR |
CNTNAP2 | 604569 | Pitt-Hopkins like syndrome 1; Autism susceptibility 15 | AR |
COA5 | 613920 | AR | |
COA8 | 616003 | Mitochondrial complex IV deficiency | AR, M |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12 | AR |
COG1 | 606973 | Congenital disorder of glycosylation, type IIg | AR |
COG4 | 606976 | congenital disorder of glycosylation type 2j; Saul-Wilson syndrome | AD, AR |
COG5 | 606821 | Congenital disorder of glycosylation, type IIi | AR |
COG6 | 606977 | congenital disorder of glycosylation type 2l; Shaheen syndrome | AR |
COG7 | 606978 | Congenital disorder of glycosylation, type IIe | AR |
COG8 | 606979 | congenital disorder of glycosylation type 2h | |
COL11A2 | 120290 | Stickler syndrome, type III; Otospondylomegaepiphyseal dysplasia; Deafness, autosomal dominant 13; Deafness, autosomal recessive 53; Fibrochondrogenesis 2 | AD, AR |
COL12A1 | 120320 | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | AD |
COL2A1 | 120140 | Epiphyseal dysplasia, multiple, with myopia and deafness; Legg-Calve-Perthes disease; Platyspondylic skeletal dysplasia, Torrance type; Kniest dysplasia; congenital spondyloepiphyseal dysplasia; SMED Strudwick type; Achondrogenesis, type II or hypochondrogenesis; Spondyloperipheral dysplasia; Osteoarthritis with mild chondrodysplasia; Avascular necrosis of the femoral head; Czech dysplasia; Stickler syndrome type 1; Stanescu type spondyloepiphyseal dysplasia | AD |
COL4A1 | 120130 | porencephaly 1; Brain small vessel disease with or without ocular anomalies; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Hemorrhage, intracerebral, susceptibility to | AD |
COL4A2 | 120090 | Brain small vessel disease type 2; Hemorrhage, intracerebral, susceptibility to | AD |
COL6A1 | 120220 | Bethlem myopathy type 1; Ullrich congenital muscular dystrophy | AD, AR |
COL6A2 | 120240 | Bethlem myopathy type 1; Ullrich congenital muscular dystrophy | AD, AR |
COL6A3 | 120250 | Bethlem myopathy type 1; Ullrich congenital muscular dystrophy; dystonia 27 | AD, AR |
COL7A1 | 120120 | transient bullous dermolysis of the newborn; autosomal dominant epidermolysis bullosa dystrophica; pretibial epidermolysis bullosa dystrophica; epidermiolysis bullosa dystrophica, Bart type; Epidermolysis bullosa dystrophica, AR; Epidermolysis bullosa pruriginosa; nonsyndromic congenital nail disorder type 8 | AD, AR |
COLQ | 603033 | congenital myasthenic syndrome type 5 | AR |
COQ2 | 609825 | Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1 | AD, AR |
COQ4 | 612898 | primary coenzyme Q10 deficiency type 7 | AR |
COQ8A | 606980 | primary Coenzyme Q10 deficiency type 4 - COQ10D4 | AR |
COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
COX10 | 602125 | Mitochondrial complex IV deficiency; Leigh syndrome | AR, M |
COX15 | 603646 | Leigh syndrome; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | AR, M |
COX20 | 614698 | Mitochondrial complex IV deficiency | AR, M |
COX6A1 | 602072 | intermediate type D Charcot-Marie-Tooth | AR |
COX6B1 | 124089 | Mitochondrial complex IV deficiency | AR, M |
CP | 117700 | aceruloplasminemia | AR |
CPA6 | 609562 | Epilepsy, familial temporal lobe, 5; Febrile seizures, familial, 11 | AD, AR |
CPLANE1 | 614571 | oral-facial-digital syndrome 6; Joubert syndrome 17 | AR |
CPS1 | 608307 | carbamoyl-phosphate synthetase 1 deficiency | AR |
CPT1A | 600528 | hepatic CPT deficiency type IA | AR |
CPT2 | 600650 | stress-induced myopathic CPT II deficiency; infantile CPT deficiency; lethal neonatal CPT II deficiency; susceptibility to infection-induced acute encephalopathy type 4 | AD, AR |
CR1 | 120620 | resistance to malaria | |
CRADD | 603454 | Mental retardation, autosomal recessive 34, with variant lissencephaly | AR |
CRBN | 609262 | mental retardation 2 | AR |
CREBBP | 600140 | Rubinstein-Taybi syndrome 1 | AD |
CRIPT | 604594 | Short stature with microcephaly and distinctive facies | AR |
CRPPA | 614631 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C7 | AR |
CRYAB | 123590 | Myopathy, myofibrillar, 2; Cataract 16, multiple types; Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related; dilated cardiomyopathy-1II | AD, AR |
CSF1R | 164770 | hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia | AD, AR |
CSF2RB | 138981 | Surfactant metabolism dysfunction, pulmonary, 5 | AR |
CSPP1 | 611654 | Joubert syndrome 21 | AR |
CSRP3 | 600824 | dilated cardiomyopathy-1M; Cardiomyopathy, familial hypertrophic, 12 | AD |
CST3 | 604312 | Cerebral amyloid angiopathy, cst3-related; Macular degeneration, age-related, 11 | AD |
CSTB | 601145 | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | AR |
CTC1 | 613129 | Cerebroretinal microangiopathy with calcifications and cysts | AR |
CTDP1 | 604927 | Congenital cataracts, facial dysmorphism, and neuropathy | AR |
CTNNA3 | 607667 | familial arrhythmogenic right ventricular dysplasia type 13 | AD |
CTNNB1 | 116806 | colorectal cancer; Hepatocellular Carcinoma; Medulloblastoma; Ovarian Cancer; neurodevelopmental disorder with spastic diplegia and visual defects | AD |
CTNS | 606272 | ocular nonnephropathic cystinosis; cystinosis; late-onset juvenile or adolescent nephropathic cystinosis | AR |
CTSA | 613111 | galactosialidosis | AR |
CTSC | 602365 | Papillon-Lefevre syndrome | AR |
CTSD | 116840 | neuronal ceroid lipofuscinosis type 10 | AR |
CTSF | 603539 | neuronal ceroid lipofuscinosis type 13 | AR |
CTSK | 601105 | pycnodysostosis | AR |
CUL3 | 603136 | Pseudohypoaldosteronism, type IIE | AD |
CUL4B | 300304 | MENTAL RETARDATION, X-LINKED 15 | XLR |
CUL7 | 609577 | 3-M syndrome | AR |
CWF19L1 | 616120 | autosomal recessive spinocerebellar ataxia 17 | AR |
CYB5R3 | 613213 | methemoglobinemia type I | AR |
CYP11B1 | 610613 | Glucocorticoid-Remediable Aldosteronism; Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency | AD, AR |
CYP11B2 | 124080 | congenita hypoaldosteronism due to CMO I deficiency; congenital hypoaldosteronism due to CMO II deficiency | AR |
CYP27A1 | 606530 | cerebrotendinous xanthomatosis | AR |
CYP2U1 | 610670 | spastic paraplegia 56 | AR |
CYP7B1 | 603711 | spastic paraplegia 5A | AR |
D2HGDH | 609186 | D-2-Hydroxyglutaric Aciduria 1 | AR |
DAG1 | 128239 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type C9 | AR |
DARS2 | 610956 | leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
DBT | 248610 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
DCAF17 | 612515 | Woodhouse-Sakati syndrome | AR |
DCTN1 | 601143 | amyotrophic lateral sclerosis 1; Perry syndrome; Neuronopathy, Distal Hereditary Motor, Type Viib | AD, AR |
DCX | 300121 | type 1 lissencephaly | XL |
DDC | 107930 | Aromatic L-amino acid decarboxylase deficiency | AR |
DDHD1 | 614603 | spastic paraplegia 28 | AR |
DDHD2 | 615003 | spastic paraplegia 54 | AR |
DDOST | 602202 | Congenital disorder of glycosylation, type Ir | AR |
DDX3X | 300160 | mental retardation 102 | XLD, XLR |
DEPDC5 | 614191 | Epilepsy, familial focal, with variable foci | AD |
DES | 125660 | Scapuloperoneal syndrome, neurogenic, Kaeser type; Myopathy, myofibrillar, 1; dilated cardiomyopathy-1I | AD, AR |
DGUOK | 601465 | mitochondrial DNA depletion syndrome 3 | AR |
DHCR24 | 606418 | Desmosterolosis | AR |
DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
DHDDS | 608172 | retinitis pigmentosa type 59; Developmental delay and seizures with or without movement abnormalities | AD, AR |
DHFR | 126060 | AR | |
DHH | 605423 | 46,Xy Sex Reversal 7; 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy | AR |
DHTKD1 | 614984 | 2-aminoadipic 2-oxoadipic aciduria; type 2Q Charcot-Marie-Tooth disease | AD, AR |
DIAPH3 | 614567 | Auditory neuropathy, autosomal dominant, 1 | AD |
DKC1 | 300126 | X-linked dyskeratosis congenita | XLR |
DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
DLD | 238331 | dihydrolipoamide dehydrogenase deficiency | AR |
DLG3 | 300189 | mental retardation 90 | XLR |
DMD | 300377 | Becker muscular dystrophy; dilated cardiomyopathy type 3B; Duchenne muscular dystrophy | XL, XLR |
DMPK | 605377 | myotonic dystrophy type 1 | AD |
DNA2 | 601810 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6 | AD, AR |
DNAH9 | 603330 | AR | |
DNAJB2 | 604139 | autosomal recessive distal spinal muscular atrophy type 5 | AR |
DNAJB6 | 611332 | limb-girdle muscular dystrophy type 1E | AD |
DNAJC19 | 608977 | 3-methylglutaconic aciduria, type 5 | AR |
DNAJC5 | 611203 | neuronal ceroid lipofuscinosis type 4, Parry type | AD |
DNAJC6 | 608375 | Parkinson disease 19, juvenile-onset | AR |
DNM1 | 602377 | early infantile epileptic encephalopathy, 31 | AD |
DNM1L | 603850 | Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission | AD, AR |
DNM2 | 602378 | Myopathy, centronuclear 1; CHARCOT-MARIE-TOOTH, DOMINANT INTERMEDIATE TYPE B; Lethal congenital contracture syndrome 5 | AD, AR |
DNMT1 | 126375 | cerebellar ataxia, deafness and narcolepsy; Neuropathy, hereditary sensory, type IE | AD |
DOCK7 | 615730 | early infantile epileptic encephalopathy 23 | AR |
DOCK8 | 611432 | Hyper-IgE recurrent infection syndrome, autosomal recessive | AR |
DOK7 | 610285 | congenital myasthenic syndrome type 10 | AR |
DOLK | 610746 | congenital disorder of glycosylation type 1m | AR |
DPAGT1 | 191350 | congenital disorder of glycosylation type 1j; Myasthenic syndrome, congenital, with tubular aggregates 13 | AR |
DPM1 | 603503 | Congenital disorder of glycosylation, type Ie | AR |
DPM2 | 603564 | Congenital disorder of glycosylation, type Iu | AR |
DPM3 | 605951 | congenital disorder of glycosylation, type Io | AR |
DPYD | 612779 | Dihydropyrimidine dehydrogenase deficiency | AR |
DRD3 | 126451 | schizophrenia | AD |
DSC3 | 600271 | hypotrichosis and recurrent skin vesicles | AR |
DST | 113810 | Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 | AR |
DTNBP1 | 607145 | Hermansky-Pudlak syndrome 7 | AR |
DUSP6 | 602748 | Hypogonadotropic hypogonadism 19 with or without anosmia | AD |
DYM | 607461 | Dyggve-Melchior-Clausen disease | AR |
DYNC1H1 | 600112 | lower extremity-predominant spinal muscular atrophy type 1; type 2O Charcot-Marie-Tooth disease; mental retardation-13 | AD |
DYNC2H1 | 603297 | short-rib thoracic dysplasia-3 with or without polydactyly | AR, DiR |
DYRK1A | 600855 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 | AD |
DYSF | 603009 | limb-girdle muscular dystrophy type 2B; Miyoshi muscular dystrophy type 1; distal myopathy with anterior tibial onset | AR |
EARS2 | 612799 | Combined oxidative phosphorylation deficiency 12 | AR |
EBP | 300205 | MEND syndrome; Chondrodysplasia punctata, X-linked dominant | XLD, XLR |
ECEL1 | 605896 | distal arthrogryposis type 5D | AR |
ECHS1 | 602292 | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | AR |
EDN3 | 131242 | congenital central hypoventilation syndrome; Waardenburg syndrome type 4B; Hirschsprung disease 4 | AD, AR |
EDNRB | 131244 | Waardenburg syndrome type 4A; Hirschsprung disease, susceptibility to, 2; ABCD syndrome | AD, AR |
EEF1A2 | 602959 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; early infantile epileptic encephalopathy type 33 | AD |
EFHC1 | 608815 | Epilepsy, myoclonic juvenile | AD |
EFTUD2 | 603892 | Mandibulofacial dysostosis, Guion-Almeida type | AD |
EGF | 131530 | Hypomagnesemia 4, renal | |
EGR2 | 129010 | Dejerine-Sottas syndrom; congenital hypomyelinating neuropathy; type 1D Charcot-Marie-Tooth disease | AD, AR |
EHMT1 | 607001 | Kleefstra syndrome | AD |
EIF2B1 | 606686 | leukoencephaly with vanishing white matter | AR |
EIF2B2 | 606454 | leukoencephaly with vanishing white matter | AR |
EIF2B3 | 606273 | leukoencephaly with vanishing white matter | AR |
EIF2B4 | 606687 | leukoencephaly with vanishing white matter | AR |
EIF2B5 | 603945 | leukoencephaly with vanishing white matter | AR |
EIF4E | 133440 | ||
EIF4G1 | 600495 | PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | AD |
ELOVL4 | 605512 | Spinocerebellar ataxia 34; Stargardt disease 3; Ichthyosis, spastic quadriplegia, and mental retardation | AD, AR |
ELOVL5 | 611805 | spinocerebellar ataxia 38 | AD |
ELP1 | 603722 | hereditary sensory and autonomic neuropathy type III | AR |
EMD | 300384 | Emery-Dreifuss muscular dystrophy type 1 | XLR |
EMX2 | 600035 | Schizencephaly | |
ENO3 | 131370 | Glycogen storage disease XIII | AR |
ENPP1 | 173335 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Arterial calcification, generalized, of infancy, 1; OBESITY; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease | AD, AR |
ENTPD1 | 601752 | spastic paraplegia 64 | AR |
EP300 | 602700 | colorectal cancer; Rubinstein-Taybi syndrome 2 | AD |
EPB41L1 | 602879 | mental retardation-11 | AD |
EPM2A | 607566 | Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora) | AR |
ERBB4 | 600543 | Amyotrophic lateral sclerosis 19 | AD |
ERCC1 | 126380 | Cerebrooculofacioskeletal syndrome 4 | AR |
ERCC2 | 126340 | xeroderma pigmentosum complementation group D; photosensitive trichothiodystrophy type 1; cerebrooculofacioskeletal syndrome type 2 | AR |
ERCC5 | 133530 | xeroderma pigmentosum complementation group G; cerebrooculofacioskeletal syndrome type 3 | AR |
ERCC6 | 609413 | Cockayne syndrome, type B; Lung Cancer; Cerebrooculofacioskeletal syndrome 1 | AD, AR |
ERLIN1 | 611604 | spastic paraplegia 62 | AR |
ERLIN2 | 611605 | spastic paraplegia 18 | AR |
ESCO2 | 609353 | Roberts syndrome | AR |
ESRRB | 602167 | deafness type 35 | AR |
ETFA | 608053 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETFB | 130410 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETFDH | 231675 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETHE1 | 608451 | ethylmalonic encephalopathy | AR |
EXOSC3 | 606489 | pontocerebellar hypoplasia type 1B | AR |
EXOSC8 | 606019 | AR | |
F2 | 176930 | thrombophilia due to thrombin defect; susceptibility to ischemic stroke; congenital prothrombin deficiency; susceptibility to recurrent pregnancy loss type 2 | AD, AR |
F5 | 612309 | thrombophilia due to activated protein C resistance; factor V deficiency; Budd-Chiari syndrome; susceptibility to ischemic stroke; susceptibility to recurrent pregnancy loss type 1 | AD, AR |
FA2H | 611026 | spastic paraplegia 35 | AR |
FADD | 602457 | recurrent infections with encephalopathy, hepatic dysfunction and cardiovasuclar malformations | AR |
FAH | 613871 | tyrosinemia type 1 | AR |
FAM126A | 610531 | hypomyelinating leukodystrophy-5 | AR |
FANCB | 300515 | Fanconi anemia of complementation group B | XLR |
FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14; spastic paraplegia type 77 | AR |
FASTKD2 | 612322 | AR | |
FBLN5 | 604580 | Cutis laxa, autosomal recessive, type IA; hereditary neuropathy with or without age-related macular degeneration | AD, AR |
FBN1 | 134797 | Marfan syndrome; stiff skin syndrome; Weill-Marchesani syndrome 2; geleophysic dysplasia 2; Marfan lipodystrophy syndrome | AD |
FBN2 | 612570 | congenital contractural arachnodactyly; early-onset macular degeneration | AD |
FBXL4 | 605654 | mitochondrial DNA depletion syndrome 13 | AR |
FBXO38 | 608533 | distal hereditary motor neuronopathy type IID | AD |
FBXO7 | 605648 | Parkinson disease 15, autosomal recessive | AR |
FCGR2B | 604590 | systemic lupus erythematosus; resistance to malaria | AD |
FEZF1 | 613301 | AR | |
FGA | 134820 | Amyloidosis, familial visceral; Afibrinogenemia, congenital; Dysfibrinogenemia, congenital | AD, AR |
FGD1 | 300546 | Aarskog-Scott syndrome | XLR |
FGD4 | 611104 | type 4H Charcot-Marie-Tooth disease | AR |
FGF10 | 602115 | Lacrimoauriculodentodigital Syndrome; Aplasia of lacrimal and salivary glands | AD |
FGF12 | 601513 | AD | |
FGF14 | 601515 | spinocerebellar ataxia 27 | AD |
FGF17 | 603725 | Hypogonadotropic hypogonadism 20 with or without anosmia | AD |
FGF8 | 600483 | hypogonadotropic hypogonadism 6 with or without anosmia | AD |
FGFR1 | 136350 | Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; hypogonadotropic hypogonadism-2 with or without anosmia; Osteoglophonic dysplasia; Hartsfield syndrome | AD |
FGFR2 | 176943 | Apert syndrome; Saethre-Chotzen Syndrome; Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; Crouzon syndrome; Beare-Stevenson cutis gyrata syndrome; Lacrimoauriculodentodigital Syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Scaphocephaly, maxillary retrusion, and mental retardation; Gastric Cancer; Bent bone dysplasia syndrome | AD |
FGFR3 | 134934 | Achondroplasia; Bladder Cancer; colorectal cancer; Hypochondroplasia; Lacrimoauriculodentodigital Syndrome; Nevus, Epidermal; Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II; Spermatocytic seminoma, somatic; Muenke syndrome; Cervical cancer, somatic; CATSHL syndrome; Crouzon syndrome with acanthosis nigricans | AD, AR |
FH | 136850 | Leiomyomatosis and renal cell cancer; Fumarase deficiency | AD, AR |
FHL1 | 300163 | Scapuloperoneal myopathy, X-linked dominant; Myopathy, X-linked, with postural muscle atrophy; Emery-Dreifuss muscular dystrophy 6; Myopathy, Reducing Body, X-Linked, Early-Onset, Severe; Myopathy, reducing body, X-linked, childhood-onset | XL, XLD, XLR |
FIG4 | 609390 | Yunis-Varon syndrome; type 4J Charcot-Marie-Tooth disease; amyotrophic lateral sclerosis 11; Polymicrogyria, bilateral temporooccipital | AD, AR |
FKBP10 | 607063 | Bruck syndrome 1; osteogenesis imperfecta type 11 | AR |
FKRP | 606596 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B5; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C5; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | AR |
FKTN | 607440 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A4; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C4; dilated cardiomyopathy type 1X; congenital muscular dystrophy-dystroglycanopathy without mental retardation type B4 | AR |
FLNA | 300017 | Congenital short bowel syndrome; Heterotopia, periventricular / X-linked periventricular heterotopia; Terminal osseous dysplasia; FG syndrome 2; Otopalatodigital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needles syndrome; otopalatodigital syndrome type I; Cardiac valvular dysplasia, X-linked | XL, XLD, XLR |
FLNC | 102565 | Myopathy, myofibrillar, 5; distal myopathy type 4; Cardiomyopathy, Familial Hypertrophic, 26 | AD |
FLRT3 | 604808 | AD | |
FLVCR1 | 609144 | Ataxia, posterior column, with retinitis pigmentosa | AR |
FLVCR2 | 610865 | Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome | AR |
FMR1 | 309550 | fragile X tremor/ataxia syndrome; fragile X mental retardation syndrome; premature ovarian failure type 1 | XL, XLD |
FOLR1 | 136430 | cerebral folate transport deficiency | AR |
FOXC1 | 601090 | Iridogoniodysgenesis, type 1; Axenfeld-Rieger syndrome, type 3 | AD |
FOXG1 | 164874 | Rett syndrome, congenital variant | AD |
FOXL2 | 605597 | Blepharophimosis, epicanthus inversus, and ptosis | AD, AR |
FOXP1 | 605515 | Mental retardation with language impairment and with or without autistic features | AD |
FOXP2 | 605317 | Speech-Language Disorder 1 | AD |
FOXP3 | 300292 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | XLR |
FOXRED1 | 613622 | AR | |
FREM1 | 608944 | Manitoba oculotrichoanal syndrome; Bifid nose with or without anorectal and renal anomalies; Trigonocephaly 2 | AD, AR |
FRMD7 | 300628 | nystagmus 1, congenital, X-linked | XL |
FRRS1L | 604574 | Epileptic encephalopathy, early infantile, 37 | AR |
FSHB | 136530 | AR | |
FTL | 134790 | Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 | AD, AR |
FTO | 610966 | Growth retardation, developmental delay, facial dysmorphism | AR |
FTSJ1 | 300499 | MENTAL RETARDATION, X-LINKED 9 | XLR |
FUCA1 | 612280 | fucosidosis | AR |
FUS | 137070 | amyotrophic lateral sclerosis 6; Tremor, hereditary essential, 4 | AD |
FXN | 606829 | Friedreich ataxia | AR |
FXYD2 | 601814 | Hypomagnesemia-2, renal | AD |
G6PD | 305900 | glucose-6-phosphate dehydrogenase deficiency; resistance to malaria | XLD |
GAA | 606800 | Pompe disease | AR |
GABRA1 | 137160 | Epilepsy, Juvenile Myoclonic, Susceptibility To, 5; early infantile epileptic encephalopathy, 19 | AD |
GABRB3 | 137192 | Epilepsy, Childhood Absence, Susceptibility To, 5 | AD |
GABRD | 137163 | Epilepsy, idiopathic generalized, 10 | AD |
GABRG2 | 137164 | Epilepsy, Childhood Absence, Susceptibility To, 2; Generalized epilepsy with febrile seizures plus type 3 | AD |
GAD1 | 605363 | Cerebral palsy, spastic quadriplegic, 1 | AR |
GALC | 606890 | Krabbe disease | AR |
GALNS | 612222 | mucopolysaccharidosis type IVA | AR |
GALT | 606999 | galactosemia | AR |
GAMT | 601240 | guanidinoacetate methyltransferase deficiency | AR |
GAN | 605379 | giant axonal neuropathy | AR |
GARS1 | 600287 | Neuropathy, distal hereditary motor, type V; type 2D Charcot-Marie-Tooth disease | AD |
GATM | 602360 | Cerebral creatine deficiency syndrome 3 | AD, AR |
GBA | 606463 | Lewy body dementia; Susceptibility to late-onset Parkinson disease; Gaucher disease type 1; Gaucher disease type 2 (acute); Gaucher disease type 3 (subacute/ chronic); Gaucher disease, cardiovascular form; Gaucher disease, perinatal-lethal form | AD, AR |
GBA2 | 609471 | spastic paraplegia 46 | AR |
GBE1 | 607839 | storage disease type 4; Polyglucosan body disease, adult form | AR |
GCDH | 608801 | glutaric academia type I | AR |
GCH1 | 600225 | dopa-responsive dystonia; Hyperphenylalaninemia, BH4-deficient, B | AD, AR |
GCK | 138079 | MODY type 2; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Hyperinsulinemic hypoglycemia, familial, 3; permanent neonatal diabetes mellitus | AD, AR |
GCSH | 238330 | glycine encephalopathy | AR |
GDAP1 | 606598 | type 4A Charcot-Marie-Tooth disease; type 2K Charcot-Marie-Tooth disease | AD, AR |
GDI1 | 300104 | mental retardation 41 | XLD |
GDNF | 600837 | pheochromocytoma; congenital central hypoventilation syndrome; Hirschsprung Disease, Susceptibility To, 3 | AD |
GFAP | 137780 | Alexander disease | AD |
GFER | 600924 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | |
GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
GFM2 | 606544 | AR | |
GFPT1 | 138292 | congenital myasthenic syndrome with tubular aggregates type 1 | AR |
GIGYF2 | 612003 | PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | |
GJA1 | 121014 | Oculodentodigital dysplasia | AD, AR |
GJB1 | 304040 | Charcot-Marie-Tooth disease type 1 | XLD |
GJB3 | 603324 | erythrokeratoderma variabilis progressive type 1; nonsyndromic hearing loss; Deafness, autosomal dominant 2B | AD, AR, DiD |
GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2; spastic paraplegia 44 | AD, AR |
GK | 300474 | Glycerol kinase deficiency | XLR |
GLA | 300644 | Fabry disease; Fabry disease, atypical cardiac variant | XL |
GLB1 | 611458 | GM1-gangliosidosis; GM1-gangliosidosis type II; GM1-gangliosidosis type III; mucopolysaccharidosis type IVB | AR |
GLDC | 238300 | glycine encephalopathy | AR |
GLE1 | 603371 | Lethal congenital, contracture syndrome 1 | AR |
GLI2 | 165230 | holoprosencephaly 9; Culler-Jones syndrome | AD |
GLI3 | 165240 | Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B; Preaxial polydactyly type IV; Greig cephalopolysyndactyly syndrome | AD |
GLRA1 | 138491 | Hyperekplexia, hereditary 1, autosomal dominant or recessive | AD, AR |
GLRB | 138492 | Hyperekplexia 2, autosomal recessive | AR |
GLUD1 | 138130 | familial hyperinsulinemic hypoglycemia-6 | AD |
GLUL | 138290 | Glutamine deficiency, congenital | AR |
GM2A | 613109 | GM2-gangliosidosis, AB variant | AR |
GMPPA | 615495 | Alacrima, achalasia, and mental retardation syndrome | AR |
GMPPB | 615320 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | AR |
GNAL | 139312 | dystonia 25 | AD |
GNAO1 | 139311 | early infantile epileptic encephalopathy 17; neurodevelopmental disorder with involuntary movements | AD |
GNAS | 139320 | Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism | AD |
GNB4 | 610863 | intermediate type F Charcot-Marie-Tooth | AD |
GNE | 603824 | Sialuria; Nonaka myopathy | AD, AR |
GNPAT | 602744 | rhizomelic chondrodysplasia punctata type 2 | AR |
GNPTAB | 607840 | mucolipidosis II alpha/beta; mucolipidosis III alpha/beta | AR |
GNPTG | 607838 | mucolipidosis III gamma | AR |
GNRH1 | 152760 | hypogonadotropic hypogonadism 12 with or without anosmia | AR |
GNRHR | 138850 | hypogonadotropic hypogonadism 7 with or without anosmia | AR |
GNS | 607664 | mucopolysaccharidosis type IIID | AR |
GOSR2 | 604027 | Epilepsy, progressive myoclonic 6 | AR |
GP1BA | 606672 | Bernard-Soulier syndrome, type A2 (dominant); platelet type von Willebrand disease; Bernard-Soulier syndrome, type C | AD, AR |
GPC3 | 300037 | Wilms tumor, type 1; Simpson-Golabi-Behmel syndrome, type 1 | XLR |
GPHN | 603930 | Molybdenum cofactor deficiency, complementation group c | AR |
GPR143 | 300808 | Albinism, Ocular, Type I; Nystagmus 6, congenital, X-linked | XL, XLR |
GPT2 | 138210 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 | AR |
GPX1 | 138320 | Hemolytic anemia due to glutathione peroxidase deficiency | AR |
GRIA3 | 305915 | syndromic mental retardation, Wu type | XLR |
GRID2 | 602368 | autosomal recessive spinocerebellar ataxia 18 | AR |
GRIK2 | 138244 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 | AR |
GRIN1 | 138249 | mental retardation- 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures | AD, AR |
GRIN2A | 138253 | Epilepsy, focal, with speech disorder and with or without mental retardation | AD |
GRIN2B | 138252 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; early infantile epileptic encephalopathy 27 | AD |
GRIP1 | 604597 | AR | |
GRM1 | 604473 | autosomal recessive spinocerebellar ataxia 13; Spinocerebellar ataxia type 44 | AD, AR |
GRN | 138945 | frontotemporal lobar degeneration with ubiquitin-positive inclusions; neuronal ceroid lipofuscinosis type 11 | AD, AR |
GSN | 137350 | Amyloidosis, finnish type | AD |
GSS | 601002 | Glutathione synthetase deficiency | AR |
GTPBP3 | 608536 | Combined oxidative phosphorylation deficiency 23 | AR |
GUF1 | 617064 | early infantile epileptic encephalopathy, 40 | AR |
GUSB | 611499 | mucopolysaccharidosis type VII | AR |
GYG1 | 603942 | Glycogen storage disease XV; Polyglucosan body myopathy 2 | AR |
GYS1 | 138570 | Glycogen storage disease 0, muscle | AR |
HADHA | 600890 | mitochondrial trifunctional protein deficiency; long-chain 3-hydroxyl-CoA dehydrogenase deficiency | AR |
HADHB | 143450 | mitochondrial trifunctional protein deficiency | AR |
HAMP | 606464 | Hemochromatosis, type 2B | AR |
HBB | 141900 | Heinz Body Anemias; Delta-beta thalassemia; dominantly inherited inclusion body beta-thalassemia; sickle cell anemia; resistance to malaria; beta-thalassemia | AD, AR |
HCCS | 300056 | Microphthalmia, syndromic 7 | XLD |
HCFC1 | 300019 | mental retardation 3 | XLR |
HCN1 | 602780 | early infantile epileptic encephalopathy 24 | AD |
HDAC4 | 605314 | ||
HDAC8 | 300269 | Cornelia de Lange syndrome 5 | XLD |
HEPACAM | 611642 | megalencephalic leukoencephalopathy with subcortical cysts type 2A; megalencephalic leukoencephalopathy with subcortical cysts type 2B, remitting, with or without mental retardation | AD, AR |
HERC2 | 605837 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 | AR |
HESX1 | 601802 | Septooptic dysplasia | AD, AR |
HEXA | 606869 | Tay-Sachs disease/ GM2-gangliosidosis | AR |
HEXB | 606873 | Sandhoff disease | AR |
HFE | 613609 | Alzheimer Disease; hepatoerythropoietic porphyria; variegate porphyria; hemochromatosis type 1; susceptibility to microvascular complications of diabetes type 7; Transferrin serum level QTL2 | AD, AR |
HGSNAT | 610453 | mucopolysaccharidosis type IIIC; retinitis pigmentosa type 73 | AR |
HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
HINT1 | 601314 | Neuromyotonia and axonal neuropathy, autosomal recessive | AR |
HK1 | 142600 | Hemolytic anemia due to hexokinase deficiency; Neuropathy, hereditary motor and sensory, Russe type; Retinitis pigmentosa 79; Neurodevelopmental disorder with visual defects and brain anomalies | AD, AR |
HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
HMGCS2 | 600234 | HMG-CoA synthase-2 deficiency | AR |
HNRNPA1 | 164017 | Amyotrophic lateral sclerosis 20 | AD |
HNRNPDL | 607137 | limb-girdle muscular dystrophy type 1G | AD |
HNRNPU | 602869 | Epileptic encephalopathy, early infantile, 54 | AD |
HOXA1 | 142955 | Bosley-Salih-Alorainy syndrome | |
HOXD10 | 142984 | AD | |
HPCA | 142622 | dystonia 2 | AR |
HPD | 609695 | Tyrosinemia, type III | AD, AR |
HPRT1 | 308000 | Lesch-Nyhan syndrome; Kelley-Seegmiller syndrome | XLR |
HPS1 | 604982 | Hermansky-Pudlak syndrome type 1 | AR |
HPS3 | 606118 | Hermansky-Pudlak syndrome type 3 | AR |
HPS4 | 606682 | Hermansky-Pudlak syndrome type 4 | AR |
HPS5 | 607521 | Hermansky-Pudlak syndrome type 5 | AR |
HPS6 | 607522 | Hermansky-Pudlak syndrome type 6 | AR |
HPSE2 | 613469 | Urofacial syndrome 1 | AR |
HRAS | 190020 | Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome | AD |
HS6ST1 | 604846 | hypogonadotropic hypogonadism 15 with or without anosmia | AD |
HSD17B10 | 300256 | HSD10 mitochondrial disease | XLD |
HSD17B4 | 601860 | Perrault syndrome type 1; D-bifunctional protein deficiency | AR |
HSPB1 | 602195 | type 2F Charcot-Marie-Tooth disease; Neuropathy, distal hereditary motor, type IIB | AD |
HSPB3 | 604624 | Neuronopathy, distal hereditary motor, type iic | AD |
HSPB8 | 608014 | Neuropathy, distal hereditary motor, type IIA; type 2L Charcot-Marie-Tooth disease | AD |
HSPD1 | 118190 | spastic paraplegia 13; hypomyelinating leukodystrophy-4 | AD, AR |
HSPG2 | 142461 | Silverman-Handmaker type of dyssegmental dysplasia; Schwartz-Jampel syndrome | AR |
HTRA1 | 602194 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 | AD, AR |
HTRA2 | 606441 | Parkinson disease 13; 3-methylglutaconic aciduria, type VIII | AR |
HUWE1 | 300697 | syndromic mental retardation, Turner type | XL |
HYAL1 | 607071 | Mucopolysaccharidosis type IX | AR |
HYDIN | 610812 | primary ciliary dyskinesia type 5 | AR |
IARS2 | 612801 | Cataracts, Growth Hormone Deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia | AR |
IBA57 | 615316 | Multiple mitochondrial dysfunctions syndrome 3 | AR |
ICAM1 | 147840 | resistance to malaria | |
IDS | 300823 | mucopolysaccharidosis type II | XLR |
IDUA | 252800 | mucopolysaccharidosis type IH; mucopolysaccharidosis type 1; mucopolysaccharidosis type IS | AR |
IER3IP1 | 609382 | Microcephaly, epilepsy, and diabetes syndrome | AR |
IFIH1 | 606951 | Singleton-Merten syndrome type 1; Aicardi-Goutieres syndrome 7 | AD |
IFT140 | 614620 | Mainzer-Saldino syndrome; retinitis pigmentosa type 80 | AR |
IFT172 | 607386 | Short-rib thoracic dysplasia 10 with or without polydactyly | AR |
IFT27 | 615870 | Bardet-Biedl syndrome 19 | AR |
IGBP1 | 300139 | mental retardation 28 | XLR |
IGF1 | 147440 | Insulin-Like Growth Factor I Deficiency | AR |
IGF1R | 147370 | Insulin-like growth factor I, resistance to | AD, AR |
IGHMBP2 | 600502 | distal hereditary motor neuronopathy type VI; type 2S Charcot-Marie-Tooth disease | AR |
IKBKG | 300248 | Incontinentia pigmenti, type II | XLD, XLR |
IL11RA | 600939 | Craniosynostosis and dental anomalies | AR |
IL17RD | 606807 | Hypogonadotropic hypogonadism type 18 with or without anosmia | AD, AR, DiD |
IL1RAPL1 | 300206 | mental retardation 21 | XLR |
IL1RN | 147679 | Gastric Cancer, Hereditary Diffuse; Microvascular complications of diabetes, susceptibility to, 4; Osteomyelitis, sterile multifocal, with periostitis and pustulosis | AD, AR |
INF2 | 610982 | Focal Segmental Glomerulosclerosis 5; intermediate type E Charcot-Marie-Tooth | AD |
INPP5E | 613037 | Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
INS | 176730 | Diabetes Mellitus, Insulin-Dependent, 2; MODY type 10 | AD, AR |
INVS | 243305 | nephronophthisis 2 | AR |
IQSEC2 | 300522 | MENTAL RETARDATION, X-LINKED 1 | XLD |
IRX5 | 606195 | Hamamy syndrome | AR |
ISCA2 | 615317 | Multiple mitochondrial dysfunctions syndrome type 4 | AR |
ISCU | 611911 | AR | |
ITGA7 | 600536 | Muscular dystrophy, congenital, due to ITGA7 deficiency | AR |
ITGB3 | 173470 | Bleeding disorder, platelet-type, 16, autosomal dominant; Glanzmann thrombasthenia; Myocardial infarction, decreased susceptibility to | AD, AR |
ITM2B | 603904 | Cerebral amyloid angiopathy, itm2b-related, 2; Cerebral amyloid angiopathy, itm2b-related, 1 | AD |
ITPA | 147520 | Epileptic encephalopathy, early infantile, 35 | AR |
ITPR1 | 147265 | spinocerebellar ataxia 29; Gillespie syndrome; spinocerebellar ataxia 15 | AD, AR |
IVD | 607036 | isovaleric acidemia | AR |
JAG1 | 601920 | Alagille syndrome; Tetralogy of Fallot | AD |
JAM3 | 606871 | Hemorrhagic destruction of the brain, subpendymal calcification, and cataracts | AR |
KANK1 | 607704 | Cerebral palsy, spastic quadriplegic, 2 | |
KARS1 | 601421 | CHARCOT-MARIE-TOOTH, RECESSIVE INTERMEDIATE TYPE B; Deafness, autosomal recessive 89 | AR |
KAT6A | 601408 | mental retardation- 32 | AD |
KAT6B | 605880 | Ohdo syndrome, SBBYS variant; Genitopatellar syndrome | AD |
KATNB1 | 602703 | lissencephaly 6 | AR |
KBTBD13 | 613727 | Nemaline Myopathy 6 | AD |
KCNA1 | 176260 | Episodic ataxia/myokymia syndrome | AD |
KCNA2 | 176262 | Epileptic encephalopathy, early infantile, 32 | AD |
KCNB1 | 600397 | early infantile epileptic encephalopathy 26 | AD |
KCNC1 | 176258 | Progressive myoclonic epilepsy 7 | AD |
KCNC3 | 176264 | spinocerebellar ataxia 13 | AD |
KCND3 | 605411 | spinocerebellar ataxia 19 | AD |
KCNE3 | 604433 | Brugada syndrome 6 | |
KCNJ1 | 600359 | Bartter syndrome, type 2 | AR |
KCNJ10 | 602208 | autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance | AR |
KCNJ11 | 600937 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; familial hyperinsulinemic hypoglycemia type 2; transient neonatal diabetes mellitus type 3; MODY type 13 | AD, AR |
KCNK18 | 613655 | AD | |
KCNK9 | 605874 | ||
KCNMA1 | 600150 | Generalized epilepsy and paroxysmal dyskinesia; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16 | AD, AR |
KCNQ2 | 602235 | benign familial neonatal epilepsy; early-onset epileptic encephalopathy 7 | AD |
KCNQ3 | 602232 | Seizures, Benign Familial Neonatal, 2 | AD |
KCNT1 | 608167 | early infantile epileptic encephalopathy 14; nocturnal frontal lobe epilepsy 5 | AD |
KCTD17 | 616386 | Dystonia 26, myoclonic | AD |
KCTD7 | 611725 | progressive myoclonic epilepsy type 3 with or without intracellular inclusions | AR |
KDM5C | 314690 | syndromic mental retardation - Claes-Jensen type | XLR |
KDM6A | 300128 | Kabuki syndrome 2 | XLD |
KIF11 | 148760 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | AD |
KIF1A | 601255 | spastic paraplegia 30; Neuropathy, hereditary sensory, type IIC; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 | AD, AR |
KIF1B | 605995 | type 2A1 Charcot-Marie-Tooth disease; pheochromocytoma | AD |
KIF1C | 603060 | Spastic ataxia 2, autosomal recessive | AR |
KIF21A | 608283 | Fibrosis Of Extraocular Muscles, Congenital, 1 | AD |
KIF5A | 602821 | spastic paraplegia 10; Neonatal intractable myoclonus | AD |
KIF5C | 604593 | Cortical dysplasia, complex, with other brain malformations 2 | AD |
KIF7 | 611254 | Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 | AR |
KIRREL3 | 607761 | ||
KISS1 | 603286 | hypogonadotropic hypogonadism 13 with or without anosmia | AR |
KISS1R | 604161 | Precocious puberty, central, 1; hypogonadotropic hypogonadism 8 with or without anosmia | AD, AR |
KLHL40 | 615340 | Nemaline myopathy 8, autosomal recessive | AR |
KLHL41 | 607701 | Nemaline myopathy 9 | AR |
KMT2A | 159555 | Wiedemann-Steiner syndrome | AD |
KMT2C | 606833 | Kleefstra syndrome type 2 | AD |
KMT2D | 602113 | Kabuki syndrome 1 | AD |
KNL1 | 609173 | primary microcephaly 4 | AR |
KRAS | 190070 | Arteriovenous malformations of the brain; Bladder Cancer; familial breast-ovarian cancer type 2; Gastric Cancer, Hereditary Diffuse; Schimmelpenning-Feuerstein-Mims Syndrome; Lung Cancer; Pancreatic Cancer; acute myeloid leukemia; Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type IV; Cardiofaciocutaneous syndrome 2 | AD |
KRIT1 | 604214 | Cerebral Cavernous Malformations type 1 | AD |
KRT5 | 148040 | epidermolysis bullosa simplex, Dowling-Meara type; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex, recessive 1 | AD, AR |
L1CAM | 308840 | spastic paraplegia type 1; partial agenesis of the corpus callosum; hydrocephalus with stenosis of the aqueduct of Sylvius | XLR |
L2HGDH | 609584 | L-2-hydroxyglutaric aciduria | AR |
LAMA1 | 150320 | Poretti-Boltshauser syndrome | AR |
LAMA2 | 156225 | congenital muscular dystrophy type 1A; limb-girdle Muscular dystrophy type 23 | AR |
LAMB1 | 150240 | lissencephaly 5 | AR |
LAMB2 | 150325 | Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities | AR |
LAMC3 | 604349 | Cortical malformations, occipital | AR |
LAMP2 | 309060 | Danon disease | XLD |
LARGE1 | 603590 | congenital muscular dystrophy-dystroglycanopathy with mental retardation type B6; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6 | AR |
LBR | 600024 | Pelger-Huet anomaly; Greenberg skeletal dysplasia | AD, AR |
LDB3 | 605906 | dilated cardiomyopathy-1C; Myopathy, myofibrillar, 4 | AD |
LDHA | 150000 | Glycogen storage disease XI | AR |
LEP | 164160 | Leptin deficiency | AR |
LEPR | 601007 | Morbid obesity due to leptin receptor deficiency | AR |
LGI1 | 604619 | Epilepsy, familial temporal lobe, 1 | AD |
LHB | 152780 | Hypogonadotropic hypogonadism 23 with or without anosmia | AR |
LHX3 | 600577 | Pituitary hormone deficiency, combined, 3 | AR |
LHX4 | 602146 | Pituitary hormone deficiency, combined, 4 | AD |
LIAS | 607031 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | AR |
LIMS2 | 607908 | limb-girdle muscular dystrophy type 2W | AR |
LINS1 | 610350 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 | AR |
LIPA | 613497 | Wolman disease / cholesteryl ester storage disease | AR |
LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
LITAF | 603795 | type 1C Charcot-Marie-Tooth disease | AD |
LMBRD1 | 612625 | Methylmalonic aciduria and homocystinuria, cblF type | AR |
LMNA | 150330 | dilated cardiomyopathy-1A; Lipodystrophy, familial partial, 2; Hutchinson-Gilford progeria; limb-girdle muscular dystrophy type 1B; Emery-Dreifuss muscular dystrophy 2; Malouf syndrome; Mandibuloacral dysplasia; Restrictive dermopathy, lethal; type 2B1 Charcot-Marie-Tooth disease; Heart-hand syndrome, Slovenian type; Muscular dystrophy, congenital; Emery-Dreifuss muscular dystrophy 3, AR | AD, AR |
LMNB1 | 150340 | Leukodystrophy, adult-onset, autosomal dominant | AD |
LMOD3 | 616112 | Nemaline myopathy 10 | AR |
LMX1B | 602575 | Nail-patella syndrome | AD |
LPIN1 | 605518 | Myoglobinuria, acute recurrent, autosomal recessive | AR |
LPIN2 | 605519 | Majeed syndrome | |
LRBA | 606453 | Immunodeficiency, common variable, 8, with autoimmunity | AR |
LRP2 | 600073 | Donnai-Barrow syndrome | AR |
LRPPRC | 607544 | Leigh syndrome, French-Canadian type | AR |
LRRK2 | 609007 | Parkinson disease 8 | AD |
LRSAM1 | 610933 | type 2P Charcot-Marie-Tooth disease | AD, AR |
LYRM7 | 615831 | Mitochondrial complex III deficiency nuclear type 8 | AR |
LYST | 606897 | Chediak-Higashi syndrome | AR |
LYZ | 153450 | Amyloidosis, familial visceral | AD |
LZTFL1 | 606568 | Bardet-Biedl syndrome 17 | AR |
LZTR1 | 600574 | Noonan syndrome type 2; SCHWANNOMATOSIS 2; Noonan syndrome 10 | AD, AR |
MAG | 159460 | Spastic paraplegia 75, autosomal recessive | AR |
MAGEL2 | 605283 | Schaaf-Yang syndrome | AD |
MAGI2 | 606382 | nephrotic syndrome type 15 | AR |
MAGT1 | 300715 | Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia | XLR |
MAMLD1 | 300120 | Hypospadias 2, X-linked | XLR |
MAN1B1 | 604346 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | AR |
MAN2B1 | 609458 | alpha-mannosidosis | AR |
MANBA | 609489 | Mannosidosis, Beta A, Lysosomal | AR |
MAOA | 309850 | Brunner syndrome | XLR |
MAPT | 157140 | Susceptibility to late-onset Parkinson disease; Pick disease; Dementia, frontotemporal | AD, AR |
MARS1 | 156560 | Interstitial lung and liver disease; type 2U Charcot-Marie-Tooth disease | AD, AR |
MARS2 | 609728 | AR | |
MASP1 | 600521 | 3MC syndrome 1 | AR |
MATR3 | 164015 | Myopathy, Distal, 2 | AD |
MBD5 | 611472 | mental retardation-1 | AD |
MBTPS2 | 300294 | IFAP syndrome with or without BRESHECK syndrome; Keratosis follicularis spinulosa decalvans, X-linked | XLR |
MCCC1 | 609010 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
MCCC2 | 609014 | 3-methylcrotonyl-CoA carboxylase 2 deficiency | AR |
MCEE | 608419 | Methylmalonyl-coa epimerase deficiency | AR |
MCM4 | 602638 | Natural killer cell and glucocorticoid deficiency with DNA repair defect | AR |
MCOLN1 | 605248 | Mucolipidosis type IV | AR |
MCPH1 | 607117 | primary microcephaly 1 | AR |
MECP2 | 300005 | MENTAL RETARDATION, X-LINKED 13; X-linked syndromic mental retardation, Lubs type; Autism susceptibility, X-linked 3; severe neonatal encephalopathy; Rett syndrome | XL, XLD, XLR |
MED12 | 300188 | Opitz-Kaveggia syndrome /FG syndrome-1; Lujan-Fryns syndrome | XLR |
MED13L | 608771 | Mental retardation and distinctive facial features with or without cardiac defects | AD |
MED17 | 603810 | postnatal progressive microcephaly, seizures, and brain atrophy | AR |
MED23 | 605042 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 | AR |
MED25 | 610197 | Basel-Vanagait-Smirin-Yosef syndrome | AR |
MEF2C | 600662 | mental retardation- 20 | AD |
MEGF10 | 612453 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | AR |
MEIS2 | 601740 | Cleft palate, cardiac defects, and mental retardation | AD |
MET | 164860 | Hepatocellular Carcinoma; Renal cell carcinoma, papillary; deafness type 97 | AD, AR |
MFN2 | 608507 | hereditary motor and sensory neuropathy type VIA with optic atrophy; axonal Charcot-Marie-Tooth disease type 2A2A; axonal Charcot-Marie-Tooth disease type 2A2B | AD, AR |
MFRP | 606227 | Nanophthalmos 2; isolated microphthalmia 5 | AR |
MFSD2A | 614397 | Microcephaly 15, primary, autosomal recessive | AR |
MFSD8 | 611124 | neuronal ceroid lipofuscinosis type 7; macular dystrophy with central cone involvement | AR |
MGAT2 | 602616 | Congenital disorder of glycosylation, type IIa | AR |
MGME1 | 615076 | mitochondrial DNA depletion syndrome 11 | AR |
MIB1 | 608677 | Left ventricular noncompaction 7 | AD |
MICU1 | 605084 | Myopathy with extrapyramidal signs | AR |
MID1 | 300552 | Opitz GBBB syndrome, X-linked | XLR |
MITF | 156845 | Albinism, Ocular, With Sensorineural Deafness; Tietz Syndrome; Waardenburg syndrome type 2A; Melanoma, Cutaneous Malignant, Susceptibility To, 8 | AD, AR |
MKKS | 604896 | McKusick-Kaufman syndrome; Bardet-Biedl syndrome type 6 | AR |
MKS1 | 609883 | Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 | AR |
MLC1 | 605908 | megalencephalic leukoencephalopathy with subcortical cysts type 1 | AR |
MLPH | 606526 | Griscelli syndrome, type 3 | AR |
MLYCD | 606761 | Malonyl-CoA decarboxylase deficiency | AR |
MMAA | 607481 | methylmalonic aciduria (MMA) of the cblA complementation type | AR |
MMAB | 607568 | methylmalonic aciduria (MMA) of the cblB complementation type | AR |
MMACHC | 609831 | Methylmalonic aciduria and homocystinuria, cblC type, digenic type included | AR |
MMADHC | 611935 | methylmalonic aciduria (MMA) of the cblD complementation type | AR |
MMP3 | 185250 | Coronary heart disease, susceptibility to, 6 | |
MMUT | 609058 | complete deficiency of methylmalonyl-CoA mutase | AR |
MOCS1 | 603707 | molybdenum cofactor deficiency of complementation group A | AR |
MOCS2 | 603708 | molybdenum cofactor deficiency of complementation group B | AR |
MOGS | 601336 | congenital disorder of glycosylation type 2b | AR |
MPDU1 | 604041 | congenital disorder of glycosylation type 1f | AR |
MPDZ | 603785 | Hydrocephalus, nonsyndromic, autosomal recessive 2 | AR |
MPI | 154550 | congenital disorder of glycosylation type 1b | AR |
MPV17 | 137960 | mitochondrial DNA depletion syndrome type 6 | AR |
MPZ | 159440 | type 1B Charcot-Marie-Tooth disease; Dejerine-Sottas syndrom; type 2I Charcot-Marie-Tooth disease; type 2J Charcot-Marie-Tooth disease | AD, AR |
MRE11 | 600814 | Ataxia-telangiectasia-like disorder type 1 | AR |
MRPL44 | 611849 | combined oxidative phosphorylation deficiency type 16 | AR |
MRPS22 | 605810 | Combined oxidative phosphorylation deficiency 5 | AR |
MSMO1 | 607545 | Microcephaly, congenital cataract, and psoriasiform dermatitis | AR |
MSX1 | 142983 | Tooth Agenesis, Selective, 1; Witkop Syndrome; Orofacial cleft 5 | AD |
MSX2 | 123101 | Parietal foramina 1; Parietal foramina with cleidocranial dysplasia; Craniosynostosis, type 2 | AD |
MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15 | AR |
MTHFR | 607093 | schizophrenia; thrombophilia due to thrombin defect; homocystinuria due to MTHFR deficiency; folate-sensitive neural tube defects | AD, AR |
MTM1 | 300415 | X-linked myotubular myopathy | XLR |
MTMR14 | 611089 | Myopathy, centronuclear 1 | AD |
MTMR2 | 603557 | type 4B1 Charcot-Marie-Tooth disease | AR |
MTO1 | 614667 | Combined oxidative phosphorylation deficiency 10 | AR |
MTOR | 601231 | Smith-Kingsmore syndrome | AD |
MTPAP | 613669 | AR | |
MTR | 156570 | homocystinuria-megaloblastic anemia, cblG complementation type; folate-sensitive neural tube defects | AR |
MTRR | 602568 | Homocystinuria-Megaloblastic Anemia, Cble Complementation Type; folate-sensitive neural tube defects | AR |
MTTP | 157147 | Abetalipoproteinemia; protection against metabolic syndrome | AD, AR |
MUSK | 601296 | Fetal akinesia deformation sequence; myasthenic syndrome, congenital type 9, associated with acetylcholine receptor deficiency | AR |
MVK | 251170 | Porokeratosis 3, Disseminated Superficial Actinic Type; Hyper-IgD syndrome; Mevalonic aciduria | AD, AR |
MYBPC1 | 160794 | Arthrogryposis, distal, type 1B; Lethal congenital contracture syndrome 4 | AD, AR |
MYBPC3 | 600958 | familial hypertrophic cardiomyopathy 4; dilated cardiomyopathy-1MM | AD, AR |
MYCN | 164840 | Feingold syndrome | AD |
MYH14 | 608568 | deafness type 4A; Peripheral neuropathy, myopathy, hoarseness, and hearing loss | AD |
MYH2 | 160740 | Inclusion body myopathy 3, autosomal dominant | AD, AR |
MYH3 | 160720 | distal arthrogryposis type 2A; Distal arthrogryposis type 2B3 (Sheldon-Hall) | AD, AR |
MYH7 | 160760 | Liang distal myopathy; Scapuloperoneal syndrome, myopathic type; familial hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myopathy, myosin storage, autosomal dominant; dilated cardiomyopathy-1S | AD, AR, DiD |
MYH8 | 160741 | distal arthrogryposis type 7; Carney complex variant | AD |
MYH9 | 160775 | Fechtner syndrome; Macrothrombocytopenia and progressive sensorineural deafness; May-Hegglin anomaly; Sebastian syndrome; deafness type 17 | AD |
MYO18B | 607295 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | AR |
MYO5A | 160777 | Griscelli syndrome, type 1 | AR |
MYO7A | 276903 | Usher syndrome type 1B; deafness type 2; autosomal dominant deafness type 11 | AD, AR |
MYOT | 604103 | Myopathy, spheroid body; Myopathy, myofibrillar, 3; limb-girdle muscular dystrophy type 1A | AD |
MYPN | 608517 | dilated cardiomyopathy-1KK; Autosomal recessive Nemaline myopathy type 11 | AD, AR |
NAA10 | 300013 | Ogden syndrome; Microphthalmia, syndromic 1 | XL, XLD, XLR |
NAGA | 104170 | Schindler disease, type I, III | AR |
NAGLU | 609701 | mucopolysaccharidosis type IIIB; ? axonal Charcot-Marie-Tooth disease type 2V | AD, AR |
NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
NALCN | 611549 | Hypotonia, infantile, with psychomotor retardation and characteristic facies; Congenital contractures of the limbs and face, hypotonia, and developmental delay | AD, AR |
NARS2 | 612803 | Combined oxidative phosphorylation deficiency 24 | AR |
NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly; Infantile liver failure syndrome type 2 | AR |
NBN | 602667 | Nijmegen breakage syndrome; Aplastic Anemia; Acute lymphoblastic leukemia | AR |
NDE1 | 609449 | lissencephaly 4 | AR |
NDP | 300658 | Exudative Vitreoretinopathy 2, X-Linked; Norrie disease | XLD, XLR |
NDRG1 | 605262 | type 4D Charcot-Marie-Tooth disease | AR |
NDST1 | 600853 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 | AR |
NDUFA1 | 300078 | XLR | |
NDUFA10 | 603835 | AR | |
NDUFA11 | 612638 | AR | |
NDUFA12 | 614530 | Mitochondrial complex I deficiency nuclear type 23 | AR |
NDUFA2 | 602137 | AR | |
NDUFA9 | 603834 | AR | |
NDUFAF1 | 606934 | AR | |
NDUFAF2 | 609653 | Mitochondrial complex I deficiency nuclear type 10 | AR |
NDUFAF3 | 612911 | AR | |
NDUFAF4 | 611776 | AR | |
NDUFAF5 | 612360 | AR | |
NDUFAF6 | 612392 | AR | |
NDUFB3 | 603839 | AR | |
NDUFS1 | 157655 | AR | |
NDUFS2 | 602985 | AR | |
NDUFS3 | 603846 | AR | |
NDUFS4 | 602694 | mitochondrial complex I deficiency | AR |
NDUFS6 | 603848 | AR | |
NDUFS7 | 601825 | Mitochondrial complex I deficiency, nuclear type 3 | AR |
NDUFS8 | 602141 | AR | |
NDUFV1 | 161015 | AR | |
NDUFV2 | 600532 | AR | |
NEB | 161650 | nemaline myopathy type 2 | AR |
NECAP1 | 611623 | early infantile epileptic encephalopathy 21 | AR |
NECTIN1 | 600644 | Cleft lip/palate ectodermal dysplasia syndrome | AR |
NEDD4L | 606384 | Periventricular nodular heterotopia 7 | AD |
NEFH | 162230 | amyotrophic lateral sclerosis 1; Charcot-Marie-Tooth disease, axonal, type 2CC | AD, AR |
NEK8 | 609799 | nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 | AR |
NEU1 | 608272 | neuraminidase deficiency | AR |
NEXMIF | 300524 | mental retardation 98 | XLD |
NF1 | 613113 | neurofibromatosis type 1; Neurofibromatosis-Noonan syndrome; Leukemia, juvenile myelomonocytic | AD |
NFIX | 164005 | Marshall-Smith syndrome; Sotos syndrome 2 | AD |
NFU1 | 608100 | Multiple mitochondrial dysfunctions syndrome 1 | AR |
NGF | 162030 | Neuropathy, hereditary sensory and autonomic, type V | AR |
NGLY1 | 610661 | Congenital disorder of deglycosylation | AR |
NHEJ1 | 611290 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | |
NHLRC1 | 608072 | Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora) | AR |
NHS | 300457 | Nance-Horan syndrome | XL, XLD |
NIPA1 | 608145 | spastic paraplegia type 6 | AD |
NIPBL | 608667 | Cornelia de Lange syndrome 1 | AD |
NKX2-1 | 600635 | Chorea, Benign Hereditary; Thyroid Carcinoma, Papillary; Choreoathetosis, hypothyroidism, and neonatal respiratory distress | AD |
NLGN3 | 300336 | Autism, Susceptibility To, X-Linked 1; Asperger Syndrome, X-Linked, Susceptibility To, 1 | XL |
NLGN4X | 300427 | Autism, Susceptibility To, X-Linked 2; Asperger Syndrome, X-Linked, Susceptibility To, 2 | XL |
NLRP12 | 609648 | Familial cold autoinflammatory syndrome 2 | AD |
NLRP3 | 606416 | Familial Cold Autoinflammatory Syndrome 1; Muckle-Wells syndrome; CINCA syndrome | AD |
NOD2 | 605956 | Blau syndrome; Inflammatory Bowel Disease 1 | AD |
NOG | 602991 | proximal symphalangism 1A | AD |
NOP56 | 614154 | spinocerebellar ataxia 36 | AD |
NOS2 | 163730 | resistance to malaria | |
NOS3 | 163729 | Alzheimer Disease; susceptibility to ischemic stroke | AD |
NOTCH2 | 600275 | Hajdu-Cheney syndrome; Alagille syndrome 2 | AD |
NOTCH3 | 600276 | CADASIL; Lateral meningocele syndrome | AD |
NPC1 | 607623 | Niemann-Pick disease type C/D | AR |
NPC2 | 601015 | Niemann-Pick disease type C2 | AR |
NPHP1 | 607100 | nephronophthisis 1; Joubert syndrome 4 | AR |
NPHP3 | 608002 | Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7; nephronophthisis 3 | AR |
NR0B1 | 300473 | 46XY sex reversal 2, dosage-sensitive; Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism | XL, XLR |
NR0B2 | 604630 | OBESITY | AD, AR |
NR2F1 | 132890 | Bosch-Boonstra-Schaaf optic atrophy syndrome | AD |
NR3C2 | 600983 | Pseudohypoaldosteronism type I, autosomal dominant | AD |
NRAS | 164790 | colorectal cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Neurocutaneous melanosis, somatic; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type IV | AD |
NRG1 | 142445 | ||
NRXN1 | 600565 | Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome | AR |
NSD1 | 606681 | Sotos syndrome 1 | AD |
NSDHL | 300275 | CK syndrome; CHILD syndrome | XLD, XLR |
NSMF | 608137 | hypogonadotropic hypogonadism 9 with or without anosmia | AD |
NSUN2 | 610916 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 | AR |
NT5C2 | 600417 | spastic paraplegia 45 | AR |
NTRK1 | 191315 | hereditary sensory and autonomic neuropathy type 4 | AR |
NTRK2 | 600456 | Obesity, hyperphagia, and developmental delay; early infantile epileptic encephalopathy type 58 | AD |
NUBPL | 613621 | AR | |
NXF5 | 300319 | ||
OAT | 613349 | Gyrate atrophy of choroid and retina with or without ornithinemia | AR |
OCLN | 602876 | Band-like calcification with simplified gyration and polymicrogyria | AR |
OCRL | 300535 | Dent disease type 2; Lowe oculocerebrorenal syndrome | XLR |
OFD1 | 300170 | Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 | XLD, XLR |
OPA1 | 605290 | Optic atrophy plus syndrome; optic atrophy type 1; Behr syndrome; Glaucoma, normal tension, susceptibility to; Mitochondrial DNA depletion syndrome 14 | AD, AR |
OPA3 | 606580 | Optic atrophy type 3 with cataract; 3-methylglutaconic aciduria type III | AD, AR |
OPHN1 | 300127 | X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance | XLR |
OPTN | 602432 | Adult-onset primary open angle glaucoma; Glaucoma, normal tension, susceptibility to; amyotrophic lateral sclerosis 12 | AD |
ORC1 | 601902 | Meier-gorlin syndrome 1 | AR |
OTC | 300461 | ornithine transcarbamylase deficiency | XLR |
PAFAH1B1 | 601545 | lissencephaly type 1 | AD |
PAH | 612349 | phenylketonuria | AR |
PAK3 | 300142 | mental retardation 30 | XLR |
PANK2 | 606157 | neurodegeneration with brain iron accumulation type 1; HARP syndrome | AR |
PARK7 | 602533 | Parkinson disease 7 | AR |
PAX3 | 606597 | Waardenburg syndrome, type 3; Waardenburg syndrome type 1 | AD, AR |
PAX6 | 607108 | Aniridia 1; foveal hypoplasia type 1 | AD |
PC | 608786 | pyruvate carboxylase deficiency | AR |
PCBD1 | 126090 | Hyperphenylalaninemia, BH4-deficient, D | AR |
PCCA | 232000 | propionic acidemia | AR |
PCCB | 232050 | propionic acidemia | AR |
PCDH15 | 605514 | Usher syndrome type 1D; Usher syndrome type 1F; deafness type 23 | AR, DiR |
PCDH19 | 300460 | early infantile epileptic encephalopathy type 9 | XL |
PCNT | 605925 | microcephalic osteodysplastic primordial dwarfism type 2 | AR |
PCSK1 | 162150 | Obesity with impaired prohormone processing | AR |
PDCD10 | 609118 | Cerebral cavernous malformations 3 | |
PDE6D | 602676 | Joubert syndrome 22 | AR |
PDE8B | 603390 | Striatal degeneration, autosomal dominant; Pigmented nodular adrenocortical disease, primary, 3 | AD |
PDHA1 | 300502 | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | |
PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
PDK3 | 300906 | type X6 Charcot-Marie-Tooth | XLD |
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 | AR, M |
PEX1 | 602136 | Peroxisome biogenesis disorder type 1A (Zellweger); Heimler syndrome type 1; peroxisome biogenesis disorder type 1B | AR |
PEX10 | 602859 | peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B | AR |
PEX11B | 603867 | peroxisome biogenesis disorder 14B (Zellweger) | AR |
PEX12 | 601758 | peroxisome biogenesis disorder type 3B; peroxisome biogenesis disorder type 3A (Zellweger) | AR |
PEX13 | 601789 | peroxisome biogenesis disorder 11A (Zellweger); peroxisome biogenesis disorder 11B | AR |
PEX14 | 601791 | peroxisome biogenesis disorder 13A (Zellweger) | AR |
PEX16 | 603360 | peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B | AR |
PEX19 | 600279 | peroxisome biogenesis disorder 12A (Zellweger) | AR |
PEX2 | 170993 | peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B | AR |
PEX26 | 608666 | peroxisome biogenesis disorder type 7A (Zellweger); peroxisome biogenesis disorder 7B | AR |
PEX3 | 603164 | peroxisome biogenesis disorder 10A (Zellweger) | AR |
PEX5 | 600414 | peroxisome biogenesis disorder 2B (Zellweger); peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata, type 5 | AR |
PEX6 | 601498 | peroxisome biogenesis disorder type 4A (Zellweger); peroxisome biogenesis disorder type 4B; Heimler syndrome type 2 | AD, AR |
PEX7 | 601757 | Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) | AR |
PFKM | 610681 | Glycogen storage disease type VII | AR |
PFN1 | 176610 | amyotrophic lateral sclerosis 18 | |
PGAM2 | 612931 | Glycogen storage disease X | AR |
PGAP1 | 611655 | mental retardation 42 | AR |
PGK1 | 311800 | Phosphoglycerate kinase 1 deficiency | XLR |
PGM1 | 171900 | congenital disorder of glycosylation type 1t | AR |
PHC1 | 602978 | primary microcephaly 11 | AR |
PHF6 | 300414 | Borjeson-Forssman-Lehmann syndrome | XLR |
PHF8 | 300560 | syndromic mental retardation, Siderius type | XLR |
PHGDH | 606879 | Neu-Laxova syndrome type 1; Phosphoglycerate dehydrogenase deficiency | AR |
PHKA1 | 311870 | Muscle glycogenosis | XLR |
PHOX2B | 603851 | congenital central hypoventilation syndrome | AD |
PHYH | 602026 | Refsum disease | AR |
PIEZO2 | 613629 | Arthrogryposis, distal, type 5; Marden-Walker syndrome; Arthrogryposis, distal, with impaired proprioception and touch | AD, AR |
PIGA | 311770 | Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2 | XLR |
PIGL | 605947 | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome | AR |
PIGN | 606097 | Multiple congenital anomalies-hypotonia-seizures syndrome type 1 | AR |
PIGO | 614730 | Hyperphosphatasia with mental retardation syndrome 2 | AR |
PIGV | 610274 | Hyperphosphatasia with mental retardation syndrome type 1 | AR |
PIK3CA | 171834 | familial breast-ovarian cancer type 2; colorectal cancer; Hepatocellular Carcinoma; Nevus, Epidermal; Ovarian Cancer; Keratosis, Seborrheic; Lung Cancer; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome; Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi; Gastric Cancer; Cowden syndrome 5 | |
PIK3R2 | 603157 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome | AD |
PIK3R5 | 611317 | Ataxia-oculomotor apraxia 3 | AR |
PINK1 | 608309 | Parkinson disease 6 | AR |
PITX2 | 601542 | Axenfeld-Rieger syndrome, type 1 | AD |
PKD2 | 173910 | polycystic kidney disease type 2 | AD |
PLA2G6 | 603604 | infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 | AR |
PLCB1 | 607120 | early infantile epileptic encephalopathy 12 | AR |
PLCG2 | 600220 | Familial cold autoinflammatory syndrome 3 | AD |
PLEC | 601282 | epidermolysis bullosa simplex, Ogna type; epidermolysis bullosa simplex with muscular dystrophy; epidermolysis bullosa simplex with pyloric atresia; limb-girdle muscular dystrophy type 2Q | AD, AR |
PLEKHG5 | 611101 | autosomal recessive distal spinal muscular atrophy type 4; recessive intermediate Charcot-Marie-Tooth disease type C | AR |
PLK4 | 605031 | autosomal recessive microcephaly and chorioretinopathy, 2 | AR |
PLN | 172405 | dilated cardiomyopathy-1P; Cardiomyopathy, familial hypertrophic, 18 | AD |
PLOD2 | 601865 | Bruck syndrome 2 | AR |
PLP1 | 300401 | Pelizaeus-Merzbacher disease; spastic paraplegia 2 | XLR |
PMM2 | 601785 | congenital disorder of glycosylation type 1a | AR |
PMP22 | 601097 | type 1A Charcot-Marie-Tooth disease; Dejerine-Sottas syndrom; Neuropathy, recurrent, with pressure palsies | ?AD, AD, AR |
PNKD | 609023 | dystonia 8 | AD |
PNKP | 605610 | type 2B2 Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 10 | AR |
PNPLA2 | 609059 | Neutral lipid storage disease with myopathy | AR |
PNPLA6 | 603197 | Boucher-Neuhauser syndrome; spastic paraplegia 39 | AR |
PNPO | 603287 | Pyridoxamine 5'-phosphate oxidase deficiency | AR |
PNPT1 | 610316 | Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70 | AR |
POGZ | 614787 | White-Sutton syndrome | AD |
POLG | 174763 | progressive external ophthalmoplegia; mitochondrial DNA depletion syndrome type 4A; autosomal recessive progressive external ophthalmoplegia; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; mitochondrial DNA depletion syndrome type 4B | AD, AR |
POLG2 | 604983 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | AD, AR |
POLR3A | 614258 | hypomyelinating leukodystrophy-7 | AR |
POLR3B | 614366 | hypomyelinating leukodystrophy-8 | AR |
POMC | 176830 | OBESITY; Proopiomelanocortin Deficiency | AD, AR |
POMGNT1 | 606822 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B3; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C3; retinitis pigmentosa type 76 | AR |
POMGNT2 | 614828 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8 | AR |
POMK | 615247 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A12; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type C12 | AR |
POMT1 | 607423 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C1; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B1 | AR |
POMT2 | 607439 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C2 | AR |
PORCN | 300651 | Focal dermal hypoplasia | XLD |
POT1 | 606478 | Melanoma, cutaneous malignant, susceptibility to, 10 | AD |
POU1F1 | 173110 | Pituitary hormone deficiency, combined, 1 | AD, AR |
PPARG | 601487 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; OBESITY; Lipodystrophy, familial partial, type 3 | AD, AR |
PPOX | 600923 | variegate porphyria | AD |
PPP2R2B | 604325 | spinocerebellar ataxia 12 | AD |
PPT1 | 600722 | neuronal ceroid lipofuscinosis type 1 | AR |
PQBP1 | 300463 | Renpenning Syndrome 1 | XLR |
PREPL | 609557 | congenital myasthenic syndrome type 22 | AR |
PRICKLE1 | 608500 | Epilepsy, progressive myoclonic 1B | AR |
PRKAG2 | 602743 | Wolff-Parkinson-White syndrome; fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; familial hypertrophic cardiomyopathy 6 | AD |
PRKCG | 176980 | spinocerebellar ataxia 14 | AD |
PRKCH | 605437 | susceptibility to ischemic stroke | |
PRKN | 602544 | Ovarian Cancer; Lung Cancer; Parkinson disease 2 | AR |
PRKRA | 603424 | dystonia 16 | AR |
PRNP | 176640 | Creutzfeldt-Jakob disease; Gerstmann-Straussler disease; Kuru, susceptibility to; Insomnia, fatal familial; Huntington disease-like 1; Prion disease with protracted course | AD |
PRODH | 606810 | Hyperprolinemia, type I; susceptibility to Schizophrenia, 4 | AD, AR |
PROK2 | 607002 | hypogonadotropic hypogonadism 4 with or without anosmia | AD |
PROKR2 | 607123 | hypogonadotropic hypogonadism 3 with or without anosmia | AD |
PROM1 | 604365 | Stargardt disease 4; Macular dystrophy, retinal, 2; Retinitis pigmentosa 41; Cone-rod dystrophy 12 | AD, AR |
PROP1 | 601538 | Pituitary hormone deficiency, combined, 2 | AR |
PRPH | 170710 | amyotrophic lateral sclerosis 1 | AD, AR |
PRPH2 | 179605 | Retinitis punctata albescens; Patterned dystrophy of retinal pigment epithelium (macular dystrophy); Retinitis pigmentosa 7; vitelliform macular dystrophy-3; Choriodal dystrophy, central areolar 2 | AD, AR |
PRPS1 | 311850 | Phosphoribosylpyrophosphate synthetase superactivity; Arts syndrome; deafness type 1; type X5 Charcot-Marie-Tooth | XL, XLR |
PRRT2 | 614386 | Episodic kinesigenic dyskinesia 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2 | AD |
PRRX1 | 167420 | Agnathia-otocephaly complex | AD, AR |
PRSS12 | 606709 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 | AR |
PRX | 605725 | Dejerine-Sottas syndrom; type 4F Charcot-Marie-Tooth disease | AD, AR |
PSAP | 176801 | metachromatic leukodystrophy due to SAP-b deficiency; atypical Gaucher disease; Combined SAP deficiency; atypical Krabbe disease | AR |
PSAT1 | 610936 | Phosphoserine aminotransferase deficiency; Neu-Laxova syndrome 2 | AR |
PSEN1 | 104311 | Pick disease; Dementia, frontotemporal; early-onset familial Alzheimer disease-3; dilated cardiomyopathy-1U; Acne inversa, familial, 3 | AD |
PSEN2 | 600759 | Alzheimer disease, type 4; dilated cardiomyopathy-1V | AD |
PSPH | 172480 | Phosphoserine phosphatase deficiency | AR |
PTCH1 | 601309 | Gorlin syndrome; Holoprosencephaly-7 | AD |
PTEN | 601728 | Cowden syndrome 1; Cowden syndrome type 2; Bannayan-Riley-Ruvalcaba syndrome; Prostate Cancer; Macrocephaly/autism syndrome; Meningioma, familial, susceptibility to | AD |
PTF1A | 607194 | Pancreatic Agenesis 2 | AR |
PTPN11 | 176876 | LEOPARD syndrome 1; Noonan syndrome 1; Leukemia, juvenile myelomonocytic | AD |
PTPRC | 151460 | Severe combined imunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK-cell positive; Hepatitis C Virus, Susceptibility To | AR |
PTS | 612719 | Hyperphenylalaninemia, BH4-deficient, A | AR |
PURA | 600473 | mental retardation- 31 | AD |
PUS1 | 608109 | myopathy, lactic acidosis and sideroblastic anemia type 1 | AR |
PYCR1 | 179035 | autosomal recessive cutis laxa type 2B | AR |
PYCR2 | 616406 | hypomyelinating leukodystrophy-10 | AR |
PYGM | 608455 | glycogen storage disease type 5 | AR |
QARS1 | 603727 | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy | AR |
QDPR | 612676 | Hyperphenylalaninemia, BH4-deficient, C | AR |
RAB18 | 602207 | Warburg micro syndrome 3 | AR |
RAB27A | 603868 | Griscelli syndrome, type 2 | AR |
RAB39B | 300774 | mental retardation 72 | XLR |
RAB3GAP1 | 602536 | Warburg micro syndrome 1 | AR |
RAB3GAP2 | 609275 | Martsolf syndrome; Warburg micro syndrome 2 | AR |
RAB7A | 602298 | type 2B Charcot-Marie-Tooth disease | AD |
RAD21 | 606462 | Cornelia de Lange syndrome type 4 | AD, AR |
RAD50 | 604040 | Nijmegen breakage syndrome-like disorder | |
RAF1 | 164760 | Noonan syndrome 5; Cardiomyopathy, dilated, 1NN | AD |
RAI1 | 607642 | Smith-Magenis syndrome | AD |
RANBP2 | 601181 | acute infection-induced encephalopathy-3 | AD |
RAPSN | 601592 | congenital myasthenic syndrome, type 11, associated with acetylcholine receptor deficiency | AR |
RARS1 | 107820 | hypomyelinating leukodystrophy-9 | AR |
RARS2 | 611524 | pontocerebellar hypoplasia type 6 | AR |
RBBP8 | 604124 | Jawad syndrome / Microcephaly with mental retardation and digital anomalies; Seckel syndrome 2 | AR |
RBCK1 | 610924 | Polyglucosan body myopathy 1 with or without immunodeficiency | AR |
RBFOX1 | 605104 | ||
RBM10 | 300080 | TARP syndrome | XLR |
RBM8A | 605313 | Thrombocytopenia-absent radius syndrome | AR |
RDH5 | 601617 | Retinitis punctata albescens | AD, AR |
REEP1 | 609139 | spastic paraplegia 31; Neuronopathy, distal hereditary motor, type VB | AD |
REEP2 | 609347 | spastic paraplegia 72 | AD, AR |
RELN | 600514 | lissencephaly 2; familial temporal lobe epilepsy, 7 | AD, AR |
RET | 164761 | Hirschsprung disease; familial medullary thyroid carcinoma; multiple endocrine neoplasia 2B; pheochromocytoma; multiple endocrine neoplasia 2A; congenital central hypoventilation syndrome | AD |
RETREG1 | 613114 | hereditary sensory and autonomic neuropathy type IIB | AR |
RFT1 | 611908 | congenital disorder of glycosylation type 1n | AR |
RHO | 180380 | Retinitis punctata albescens; Night blindness, congenital stationary, autosomal dominant 1; Retinitis Pigmentosa 4 | AD, AR |
RIMS1 | 606629 | Cone-rod dystrophy 7 | |
RIN2 | 610222 | MACS syndrome | AR |
RLBP1 | 180090 | Retinitis punctata albescens | AD, AR |
RNASEH2A | 606034 | Aicardi-Goutieres syndrome type 4 | AR |
RNASEH2B | 610326 | Aicardi-Goutieres syndrome type 2 | AR |
RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
RNASET2 | 612944 | Leukoencephalopathy, cystic, without megalencephaly | AR |
RNF135 | 611358 | ||
RNF170 | 614649 | AD | |
ROGDI | 614574 | Kohlschutter-Tonz syndrome | AR |
ROR2 | 602337 | Brachydactyly, type B1; Robinow syndrome, autosomal recessive | AD, AR |
RPGRIP1L | 610937 | COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 | AR |
RPIA | 180430 | AR | |
RPL10 | 312173 | Autism, susceptibility to, X-linked 5 | XLR |
RPS6KA3 | 300075 | MENTAL RETARDATION, X-LINKED 19; Coffin-Lowry syndrome | XLD |
RRM2B | 604712 | mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | AD, AR |
RTN2 | 603183 | spastic paraplegia 12 | AD |
RUBCN | 613516 | autosomal recessive spinocerebellar ataxia 15 | AR |
RXYLT1 | 605862 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A10 | AR |
RYR1 | 180901 | central core disease; malignant hyperthermia; minicore myopathy with external ophthalmoplegia | AD, AR |
SACS | 604490 | spastic ataxia of Charlevoix-Saguenay | AR |
SALL1 | 602218 | Townes-Brocks syndrome | AD |
SAMHD1 | 606754 | Aicardi-Goutieres syndrome type 5; Chilblain lupus type 2 | AD, AR |
SASS6 | 609321 | autosomal recessive primary microcephaly, 14 | AR |
SATB2 | 608148 | SATB2-associated syndrome (SAS) :Glass syndrome | AD |
SBDS | 607444 | Shwachman-Bodian-Diamond syndrome; Aplastic Anemia | AR |
SBF1 | 603560 | type 4B3 Charcot-Marie-Tooth disease | AR |
SBF2 | 607697 | type 4B2 Charcot-Marie-Tooth disease | AR |
SCARB2 | 602257 | Epilepsy, progressive myoclonic 4, with or without renal failure | AR |
SCN10A | 604427 | familial episodic pain syndrome, 2 | AD |
SCN1A | 182389 | generalized epilepsy with febrile seizures plus 2; early infantile epileptic encephalopathy 6; familial hemiplegic migraine-3 | AD |
SCN1B | 600235 | generalized epilepsy with febrile seizures plus-1; Brugada syndrome 5; Epileptic encephalopathy, early infantile, 52 | AD, AR |
SCN2A | 182390 | benign familial neonatal-infantile seizures type 3; early infantile epileptic encephalopathy 11 | AD |
SCN3A | 182391 | Epilepsy, familial focal, with variable foci 4; early infantile epileptic encephalopathy type 62 | AD |
SCN4A | 603967 | Paramyotonia congenita; Hyperkalemic periodic paralysis, type 2; Atypical myotonia congenita, acetazolamide-responsive; Hypokalemic periodic paralysis, type 2; Myasthenic syndrome, acetazolamide-responsive | AD, AR |
SCN5A | 600163 | susceptibility to sudden infant death syndrome; Brugada syndrome 1; dilated cardiomyopathy-1E; long QT syndrome 3; Sick sinus syndrome 1; Familial atrial fibrillation type 10 | AD, AR |
SCN8A | 600702 | Cognitive impairment with or without cerebellar ataxia; early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 | AD |
SCN9A | 603415 | primary erythermalgia; Paroxysmal extreme pain disorder; INDIFFERENCE TO PAIN, CONGENITAL; generalized epilepsy with febrile seizures plus 7 | AD, AR |
SCO1 | 603644 | Mitochondrial complex IV deficiency | AR, M |
SCO2 | 604272 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6 | AD, AR |
SDCCAG8 | 613524 | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | AR |
SDHA | 600857 | mitochondrial complex II deficiency; Leigh syndrome; dilated cardiomyopathy-1GG; paragangliomas type 5 | AD, AR, M |
SDHAF1 | 612848 | mitochondrial complex II deficiency | AR |
SDHB | 185470 | paragangliomas type 4; pheochromocytoma; gastrointestinal stromal tumor; paraganglioma and gastric stromal sarcoma | AD |
SDHD | 602690 | paragangliomas 1; pheochromocytoma; mitochondrial complex II deficiency; paraganglioma and gastric stromal sarcoma | AD, AR |
SEC23B | 610512 | congenital dyserythropoietic anemia 2; Cowden syndrome 7 | AD, AR |
SELENON | 606210 | Myopathy, congenital, with fiber-type disproportion; rigid spine syndrome | AD, AR |
SEMA3A | 603961 | hypogonadotropic hypogonadism 16 with or without anosmia | AD |
SEPSECS | 613009 | pontocerebellar hypoplasia type 2D | AR |
SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL syndrome). | AR |
SERPINI1 | 602445 | Encephalopathy, familial, with neuroserpin inclusion bodies | AD |
SETBP1 | 611060 | Schinzel-giedion midface retraction syndrome; mental retardation type 29 | AD |
SETD2 | 612778 | Luscan-Lumish syndrome | AD |
SETX | 608465 | amyotrophic lateral sclerosis 4; autosomal recessive spinocerebellar ataxia 1 | AD, AR |
SGCA | 600119 | limb-girdle Muscular dystrophy type 3 | AR |
SGCB | 600900 | limb-girdle muscular dystrophy type 2E | AR |
SGCD | 601411 | limb-girdle muscular dystrophy type 2F; dilated cardiomyopathy-1L | AR |
SGCE | 604149 | myoclonus-dystonia | AD |
SGCG | 608896 | limb-girdle muscular dystrophy type 2C | AR |
SGSH | 605270 | mucopolysaccharidosis type IIIA | AR |
SH3TC2 | 608206 | type 4C Charcot-Marie-Tooth disease; Mononeuropathy of the median nerve, mild | AD, AR |
SHANK2 | 603290 | Autism susceptibility 17 | |
SHH | 600725 | Holoprosencephaly 3; Solitary Median Maxillary Central Incisor; Schizencephaly; Microphthalmia, Isolated, With Coloboma 5 | AD |
SHOC2 | 602775 | Noonan Syndrome-Like Disorder With Loose Anagen Hair | AD |
SHROOM4 | 300579 | Stocco dos Santos X-linked mental retardation syndrome | XL |
SIGMAR1 | 601978 | distal spinal muscular atrophy type 2; amyotrophic lateral sclerosis 16 | AR |
SIK1 | 605705 | Epileptic encephalopathy, early infantile, 30 | AD |
SIL1 | 608005 | Marinesco-Sjogren syndrome | AR |
SIX3 | 603714 | Holoprosencephaly 2; Schizencephaly | AD |
SIX6 | 606326 | Microphthalmia with cataract 2 | AR |
SKI | 164780 | Shprintzen-Goldberg Craniosynostosis Syndrome | AD |
SLC12A3 | 600968 | Gitelman syndrome | AR |
SLC12A5 | 606726 | early infantile epileptic encephalopathy type 34; susceptibility to idiopathic generalized epilepsy-14 | AD, AR |
SLC12A6 | 604878 | Agenesis of the corpus callosum with peripheral neuropathy | AR |
SLC13A5 | 608305 | early infantile epileptic encephalopathy 25 | AR |
SLC16A1 | 600682 | Monocarboxylate transporter 1 deficiency | AD, AR |
SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
SLC17A5 | 604322 | infantile sialic acid storage disorder; Salla disease | AR |
SLC19A3 | 606152 | biotin-thiamine-responsive basal ganglia disease | AR |
SLC1A2 | 600300 | early infantile epileptic encephalopathy type 41 | AD |
SLC1A3 | 600111 | episodic ataxia type 6 | AD |
SLC20A2 | 158378 | Basal ganglia calcification, idiopathic, 1 | AD |
SLC22A5 | 603377 | systemic primary carnitine deficiency | AR |
SLC25A1 | 190315 | Combined D-2- and L-2-hydroxyglutaric aciduria | AR |
SLC25A12 | 603667 | Epileptic encephalopathy, early infantile, 39 | AR |
SLC25A13 | 603859 | Citrullinemia, Type Ii, Adult-Onset; Citrullinemia, type II, neonatal-onset | AR |
SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
SLC25A19 | 606521 | Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) | AR |
SLC25A20 | 613698 | Carnitine-acylcarnitine translocase deficiency | AR |
SLC25A22 | 609302 | early infantile epileptic encephalopathy 3 | AR |
SLC25A3 | 600370 | ||
SLC25A4 | 103220 | Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 2; mitochondrial DNA depletion syndrome 12; mitochondrial DNA depletion syndrome type 12A | AD, AR |
SLC25A46 | 610826 | Neuropathy, hereditary motor and sensory, type VIB | AR |
SLC27A4 | 604194 | Ichthyosis prematurity syndrome | |
SLC2A1 | 138140 | Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12 | AD, AR |
SLC2A10 | 606145 | arterial tortuosity syndrome | AR |
SLC30A10 | 611146 | Hypermanganesemia with dystonia, polycythemia, and cirrhosis | AR |
SLC33A1 | 603690 | spastic paraplegia 42; Congenital cataracts, hearing loss, and neurodegeneration | AD, AR |
SLC35A1 | 605634 | Congenital disorder of glycosylation, type IIf | AR |
SLC35A2 | 314375 | congenital disorder of glycosylation type 2m | XLD |
SLC35A3 | 605632 | ?Arthrogryposis, mental retardation, and seizures | AR |
SLC35C1 | 605881 | Congenital disorder of glycosylation, type IIc | AR |
SLC3A1 | 104614 | cystinuria | AD, AR |
SLC4A1 | 109270 | Autosomal dominant distal renal tubular acidosis; resistance to malaria; Renal tubular acidosis, distal, with hemolytic anemia; Spherocytosis, type 4 | AD, AR |
SLC4A4 | 603345 | Renal tubular acidosis, proximal, with ocular abnormalities | AR |
SLC52A3 | 613350 | Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1 | AR |
SLC5A7 | 608761 | Neuronopathy, distal hereditary motor, type VIIA; Myasthenic syndrome, congenital, 20, presynaptic | AD, AR |
SLC6A1 | 137165 | Myoclonic-atonic epilepsy | AD |
SLC6A3 | 126455 | Tobacco Addiction, Susceptibility To; Parkinsonism-dystonia, infantile | AR |
SLC6A5 | 604159 | Hyperekplexia 3 | AD, AR |
SLC6A8 | 300036 | Cerebral creatine deficiency syndrome type 1 | XLR |
SLC6A9 | 601019 | Glycine encephalopathy with normal serum glycine | AR |
SLC7A7 | 603593 | Lysinuric protein intolerance | AR |
SLC9A6 | 300231 | Christianson type of X-linked syndromic mental retardation | XLD |
SLC9A9 | 608396 | susceptibility to autism type 16 | |
SLCO1B3 | 605495 | Hyperbilirubinemia, Rotor type, digenic | DiR |
SMAD4 | 600993 | Myhre syndrome; Juvenile polyposis syndrome, infantile form; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Pancreatic Cancer | AD |
SMARCA2 | 600014 | Nicolaides-Baraitser syndrome | AD |
SMARCA4 | 603254 | Rhabdoid tumor predisposition syndrome 2; mental retardation-16 | AD |
SMARCB1 | 601607 | Schwannomatosis; Rhabdoid tumors, somatic; Coffin-Siris syndrome 3 | AD |
SMARCE1 | 603111 | Meningioma, familial, susceptibility to | AD |
SMC1A | 300040 | Cornelia de Lange syndrome 2 | XLD |
SMC3 | 606062 | Cornelia de Lange syndrome 3 | AD |
SMCHD1 | 614982 | Fascioscapulohumeral muscular dystrophy 2, digenic | AD |
SMN1 | 600354 | spinal muscular atrophy type 1; spinal muscular atrophy type 3; spinal muscular atrophy type 2; spinal muscular atrophy type 4 | AR |
SMN2 | 601627 | spinal muscular atrophy type 3 | AR |
SMPD1 | 607608 | Niemann-Pick disease type A; Niemann-Pick disease type A/B | AR |
SMS | 300105 | Snyder-Robinson mental retardation syndrome | XLR |
SNAI2 | 602150 | Piebaldism; Waardenburg syndrome type 2d | AD, AR |
SNAP29 | 604202 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | AR |
SNCA | 163890 | Lewy body dementia; Parkinson disease 1 | AD |
SNCB | 602569 | Lewy body dementia | AD |
SNIP1 | 608241 | AR | |
SNTA1 | 601017 | long QT syndrome 12 | AD |
SOBP | 613667 | AR | |
SOD1 | 147450 | amyotrophic lateral sclerosis 1 | AD, AR |
SORL1 | 602005 | ||
SOS1 | 182530 | Noonan syndrome 4 | AD |
SOX10 | 602229 | PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome, type 4C | AD |
SOX2 | 184429 | Microphthalmia, Syndromic 3 | AD |
SOX3 | 313430 | Mental Retardation, X-Linked, With Panhypopituitarism; Panhypopituitarism, X-linked | XL |
SPART | 607111 | spastic paraplegia 20 | AR |
SPAST | 604277 | spastic paraplegia-4 | AD |
SPEG | 615950 | centronuclear myopathy type 5 | AR |
SPG11 | 610844 | Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X | AR |
SPG21 | 608181 | spastic paraplegia type 21 | AR |
SPG7 | 602783 | spastic paraplegia 7 | AD, AR |
SPR | 182125 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
SPRY4 | 607984 | Hypogonadotropic hypogonadism 17 with or without anosmia | AD |
SPTAN1 | 182810 | Epileptic encephalopathy, early infantile, 5 | AD |
SPTBN2 | 604985 | spinocerebellar ataxia 5; autosomal recessive spinocerebellar ataxia 14 | AD, AR |
SPTLC1 | 605712 | Neuropathy, hereditary sensory and autonomic, type IA | AD |
SPTLC2 | 605713 | Neuropathy, hereditary sensory and autonomic, type ic | AD |
SQSTM1 | 601530 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | AD, AR |
SRD5A3 | 611715 | congenital disorder of glycosylation type 1q; Kahrizi syndrome | AR |
SSR4 | 300090 | congenital disorder of glycosylation type 1y | XLR |
ST3GAL3 | 606494 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; early infantile epileptic encephalopathy, 15 | AR |
ST3GAL5 | 604402 | Salt and pepper developmental regression syndrome | AR |
STAMBP | 606247 | Microcephaly-capillary malformation syndrome | AR |
STAT1 | 600555 | Autosomal recessive Immunodeficiency 31B, mycobacterial and viral infections; Immunodeficiency 31C, autosomal dominant | AD, AR |
STIL | 181590 | primary microcephaly 7 | AR |
STRA6 | 610745 | Microphthalmia, isolated, with coloboma 8 | AR |
STRADA | 608626 | Polyhydramnios, megalencephaly and symptomatic epilepsy | AR |
STT3A | 601134 | congenital disorder of glycosylation type 1w | AR |
STT3B | 608605 | Congenital disorder of glycosylation, type Ix | AR |
STUB1 | 607207 | autosomal recessive spinocerebellar ataxia 16; ?Spinocerebellar ataxia 48 | AD, AR |
STX1B | 601485 | generalized epilepsy with febrile seizures plus-9 | AD |
STXBP1 | 602926 | early infantile epileptic encephalopathy 4 | AD |
SUCLA2 | 603921 | mitochondrial DNA depletion syndrome 5 | AR |
SUCLG1 | 611224 | mitochondrial DNA depletion syndrome 9 | AR |
SUMF1 | 607939 | multiple sulfatase deficiency | AR |
SUOX | 606887 | Sulfite oxidase deficiency | AR |
SURF1 | 185620 | Leigh syndrome | AR, M |
SYN1 | 313440 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | XLD, XLR |
SYNE1 | 608441 | autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 | AD, AR |
SYNE2 | 608442 | Emery-Dreifuss muscular dystrophy 5 | AD |
SYNGAP1 | 603384 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | AD |
SYNJ1 | 604297 | Parkinson disease 20, early-onset; early infantile epileptic encephalopathy type 53 | AR |
SYP | 313475 | mental retardation 96 | XLR |
SZT2 | 615463 | Epileptic encephalopathy, early infantile, 18 | AR |
TAC3 | 162330 | hypogonadotropic hypogonadism 10 with or without anosmia | AR |
TACO1 | 612958 | Mitochondrial complex IV deficiency | AR, M |
TACR3 | 162332 | hypogonadotropic hypogonadism 11 with or without anosmia | AR |
TAF1 | 313650 | syndromic X-linked mental retardation, 33; dystonia 3 | XLR |
TAF2 | 604912 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 | AR |
TAF6 | 602955 | Alazami-Yuan syndrome | AR |
TARDBP | 605078 | amyotrophic lateral sclerosis 10 | AD |
TAS2R38 | 607751 | AD | |
TAZ | 300394 | Barth syndrome | XLR |
TBC1D20 | 611663 | Warburg micro syndrome 4 | AR |
TBC1D24 | 613577 | DOOR syndrome; Myoclonic epilepsy, infantile, familial; Rolandic epilepsy with proxysmal exercise-induced dystonia and writer's cramp; deafness type 86; Epileptic encephalopathy, early infantile, 16; deafness type 65 | AD, AR |
TBCE | 604934 | Hypoparathyroidism-retardation-dysmorphism syndrome(SANJAD-SAKATI SYNDROME) | AR |
TBK1 | 604834 | Frontotemporal dementia and/or amyotrophic lateral sclerosis type 4; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | AD |
TBL1XR1 | 608628 | Pierpont syndrome; Mental retardation, autosomal dominant 41 | AD |
TBP | 600075 | Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 17 | AD |
TBX1 | 602054 | Tetralogy of Fallot; DiGeorge syndrome; Velocardiofacial syndrome; Conotruncal Heart Malformations | AD |
TCAP | 604488 | limb-girdle muscular dystrophy type 2G; cardiomyopathy, familial hypertrophic, 25 | AD, AR |
TCF4 | 602272 | Pitt-Hopkins syndrome | AD |
TCTN1 | 609863 | Joubert syndrome 13 | AR |
TCTN2 | 613846 | Meckel syndrome 8; Joubert syndrome type 24 | AR |
TCTN3 | 613847 | oral-facial-digital syndrome 4; Joubert syndrome 18 | AR |
TECPR2 | 615000 | spastic paraplegia type 49 | AR |
TECR | 610057 | mental retardation 14 | AR |
TECTA | 602574 | Deafness, autosomal dominant 8/12; deafness type 21 | AD, AR |
TFAP2A | 107580 | Branchiooculofacial syndrome | AD |
TFAP2B | 601601 | Char syndrome; Patent ductus arteriosus 2 | AD |
TFG | 602498 | Hereditary motor and sensory neuropathy, Okinawa type; spastic paraplegia 57 | AD, AR |
TFR2 | 604720 | hemochromatosis type 3 | AR |
TG | 188450 | Thyroid dyshormonogenesis 3 | AR |
TGFB1 | 190180 | Camurati-Engelmann disease; cystic fibrosis | AD, AR |
TGFB2 | 190220 | Loeys-Dietz syndrome 4 | AD |
TGFB3 | 190230 | Arrhythmogenic right ventricular dysplasia 1; Loeys-Dietz syndrome 5 | AD |
TGFBR1 | 190181 | Multiple Self-Healing Squamous Epithelioma, Susceptibility To; Loeys-Dietz syndrome 1 | AD |
TGFBR2 | 190182 | Esophageal cancer, somatic; Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, type 6 | AD |
TGIF1 | 602630 | Holoprosencephaly-4 | AD |
TGM6 | 613900 | spinocerebellar ataxia 35 | AD |
TH | 191290 | Segawa syndrome | AR |
THAP1 | 609520 | dystonia 6 | AD |
THRA | 190120 | Hypothyroidism, congenital, nongoitrous, 6 | AD |
TICAM1 | 607601 | AD, AR | |
TIMM8A | 300356 | Mohr-Tranebjaerg syndrome | XLR |
TINF2 | 604319 | Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 | AD |
TIRAP | 606252 | Mycobacterium Tuberculosis, Susceptibility To; resistance to malaria | |
TK2 | 188250 | mitochondrial DNA depletion syndrome 2 | AR |
TLR3 | 603029 | Human Immunodeficiency Virus Type 1, Susceptibility To; Herpes simplex encephalitis, susceptibility to, 2 | AD, AR |
TLR5 | 603031 | ||
TMCO1 | 614123 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | AR |
TMEM126A | 612988 | Optic Atrophy 7 | AR |
TMEM138 | 614459 | Joubert syndrome 16 | AR |
TMEM165 | 614726 | Congenital disorder of glycosylation, type IIk | AR |
TMEM216 | 613277 | Meckel Syndrome type 2; Joubert syndrome type 2 | AR |
TMEM230 | 617019 | ||
TMEM231 | 614949 | Joubert syndrome 20; Meckel syndrome, type 11 | AR |
TMEM237 | 614423 | Joubert syndrome 14 | AR |
TMEM240 | 616101 | spinocerebellar ataxia 21 | AD |
TMEM43 | 612048 | arrhythmogenic right ventricular dysplasia 5 | AD |
TMEM67 | 609884 | COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 | AR |
TMEM70 | 612418 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | AR |
TMLHE | 300777 | susceptibility to autism type 6 | XLR |
TNF | 191160 | resistance to malaria | AD |
TNFSF4 | 603594 | Myocardial infarction, decreased susceptibility to | |
TNNI2 | 191043 | distal arthrogryposis type 2B | AD |
TNNT1 | 191041 | Nemaline myopathy 5, Amish type | AR |
TNNT3 | 600692 | AD | |
TNPO3 | 610032 | limb-girdle muscular dystrophy type 1F | AD |
TOR1A | 605204 | dystonia 1 | AD |
TP63 | 603273 | ADULT syndrome; Hay-Wells syndrome; Rapp-Hodgkin syndrome; Limb-mammary syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; Split-hand/foot malformation 4 | AD |
TPK1 | 606370 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | AR |
TPM2 | 190990 | Nemaline myopathy type 4, autosomal dominant | AD |
TPM3 | 191030 | Myopathy, congenital, with fiber-type disproportion; Nemaline myopathy 1, autosomal dominant or recessive | AD, AR |
TPO | 606765 | Thyroid dyshormonogenesis 2A | AR |
TPP1 | 607998 | neuronal ceroid lipofuscinosis type 2; autosomal recessive spinocerebellar ataxia type 7 | AR |
TRAF3 | 601896 | ||
TRAPPC11 | 614138 | limb-girdle muscular dystrophy type 2S | AR |
TRAPPC9 | 611966 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 | AR |
TREM2 | 605086 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 2 | AD |
TREX1 | 606609 | systemic lupus erythematosus; retinal vasculopathy with cerebral leukodystrophy; Aicardi-Goutieres syndrome type 1; chilblain lupus type 1 | AD, AR |
TRIM2 | 614141 | type 2R Charcot-Marie-Tooth disease | AR |
TRIM32 | 602290 | limb-girdle muscular dystrophy type 2H; Bardet-Biedl syndrome 11 | AR |
TRMT10A | 616013 | Microcephaly, short stature, and impaired glucose metabolism 1 | AR |
TRMU | 610230 | Deafness, Aminoglycoside-Induced; Liver Failure, Infantile, Transient | AR, M |
TRPC6 | 603652 | Glomerulosclerosis, focal segmental, 2 | AD |
TRPM6 | 607009 | Hypomagnesemia 1, intestinal | AR |
TRPM7 | 605692 | AD | |
TRPS1 | 604386 | trichorhinophalangeal syndrome 1 | AD |
TRPV4 | 605427 | Brachyolmia type 3; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type; Hereditary motor and sensory neuropathy, type IIc | AD |
TSC1 | 605284 | tuberous sclerosis type 1 | AD |
TSC2 | 191092 | tuberous sclerosis-2 | AD |
TSEN2 | 608753 | pontocerebellar hypoplasia type 2B | AR |
TSEN34 | 608754 | pontocerebellar hypoplasia type 2C | AR |
TSEN54 | 608755 | pontocerebellar hypoplasia type 4; pontocerebellar hypoplasia type 2A; pontocerebellar hypoplasia type 5 | AR |
TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
TSHB | 188540 | Hypothryoidism, congenital, nongoitrous 4 | AR |
TSHR | 603372 | Hypothyroidism, congenital, nongoitrous, 1 | AD, AR |
TSPAN7 | 300096 | mental retardation 58 | XLR |
TTBK2 | 611695 | spinocerebellar ataxia 11 | AD |
TTC19 | 613814 | nuclear mitochondrial complex III deficiency type 2 | AR |
TTC21B | 612014 | Short-rib thoracic dysplasia 4 with or without polydactyly; nephronophthisis 12 | AD, AR |
TTC8 | 608132 | retinitis pigmentosa type 51; Bardet-Biedl syndrome type 8 | AR |
TTI2 | 614426 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 | AR |
TTN | 188840 | Tibial muscular dystrophy, tardive; Hereditary myopathy with early respiratory failure; dilated cardiomyopathy type 1G; limb-girdle muscular dystrophy type 2J; early-onset myopathy with fatal cardiomyopathy; familial hypertrophic cardiomyopathy type 9 | AD, AR |
TTPA | 600415 | ataxia with vitamin E deficiency | AR |
TTR | 176300 | familial transthyretin amyloidosis | AD |
TUBA1A | 602529 | lissencephaly 3 | AD |
TUBA4A | 191110 | amyotrophic lateral sclerosis 22 | AD |
TUBA8 | 605742 | Polymicrogyria with optic nerve hypoplasia | AR |
TUBB2B | 612850 | Polymicrogyria, symmetric or asymmetric | AD |
TUBB3 | 602661 | Fibrosis of extraocular muscles, congenital, 3A; Cortical dysplasia, complex, with other brain malformations | AD |
TUBB4A | 602662 | dystonia 4; hypomyelinating leukodystrophy-6 | AD |
TUBGCP4 | 609610 | AR | |
TUBGCP6 | 610053 | Microcephaly and chorioretinopathy with or without mental retardation | AR |
TUFM | 602389 | Combined oxidative phosphorylation deficiency 4 | AR |
TUSC3 | 601385 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 | AR |
TWIST1 | 601622 | Saethre-Chotzen Syndrome; Craniosynostosis 1; Robinow-Sorauf syndrome | AD |
TWNK | 606075 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3 | AD, AR |
TYMP | 131222 | mitochondrial DNA depletion syndrome 1 | AR |
TYR | 606933 | Albinism, Ocular, With Sensorineural Deafness; oculocutaneous albinism type 1A; Skin/hair/eye pigmentation 3; Albinism, oculocutaneous, type IB | AD, AR |
TYROBP | 604142 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 1 | AR |
UBA1 | 314370 | X-linked infantile spinal muscular atrophy type 2 | XLR |
UBA5 | 610552 | early infantile epileptic encephalopathy, 44 | AR |
UBE2A | 312180 | syndromic mental retardation, Nascimento type | XLR |
UBE3A | 601623 | Angelman syndrome | AD |
UBQLN2 | 300264 | amyotrophic lateral sclerosis 15 | XLD |
UBR1 | 605981 | Johanson-Blizzard syndrome | AR |
UCHL1 | 191342 | Parkinson disease 5, autosomal dominant; autosomal recessive spastic paraplegia type 79 | AD, AR |
UMPS | 613891 | Orotic aciduria | AR |
UPB1 | 606673 | Beta-ureidopropionase deficiency | AR |
UPF3B | 300298 | mental retardation 14 | XLR |
UQCRB | 191330 | Mitochondrial complex III deficiency, nuclear type 3 | AR |
UQCRQ | 612080 | Mitochondrial complex III deficiency, nuclear type 4 | AR |
USH2A | 608400 | Usher syndrome type 2A; retinitis pigmentosa type 39 | AR |
USP8 | 603158 | Pituitary adenoma, ACTH-secreting; Pituitary adenoma 4, ACTH-secreting, somatic | |
USP9X | 300072 | mental retardation 99 | XLD, XLR |
VAMP1 | 185880 | Spastic ataxia 1, autosomal dominant; Myasthenic syndrome, congenital, 25 | AD, AR |
VANGL1 | 610132 | Neural tube defects; Caudal regression syndrome/Sacral defect with anterior meningocele | AD |
VAPB | 605704 | Finkel type late-onset spinal muscular atrophy; amyotrophic lateral sclerosis 8 | AD |
VCP | 601023 | inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; amyotrophic lateral sclerosis 14; Charcot-Marie-Tooth disease type 2Y | AD |
VDR | 601769 | vitamin D-dependent rickets type 2A | AR |
VEGFA | 192240 | Microvascular complications of diabetes 1 | |
VHL | 608537 | Renal carcinoma, chromophobe, somatic; pheochromocytoma; von Hippel-Lindau disease; Erythrocytosis, familial, 2 | AD, AR |
VIPAS39 | 613401 | Arthrogryposis, renal dysfunction, and cholestasis 2 | AR |
VLDLR | 192977 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome | AR |
VPS13A | 605978 | Choreoacanthocytosis | AR |
VPS13B | 607817 | Cohen syndrome | AR |
VPS35 | 601501 | Parkinson disease 17 | AD |
VPS37A | 609927 | spastic paraplegia 53 | AR |
VPS53 | 615850 | pontocerebellar hypoplasia type 2E | AR |
VRK1 | 602168 | pontocerebellar hypoplasia type 1A | AR |
WAC | 615049 | Desanto-Shinawi syndrome | AD |
WASHC5 | 610657 | Ritscher-Schinzel syndrome; spastic paraplegia 8 | AD, AR |
WDPCP | 613580 | Bardet-Biedl syndrome 15 | AR |
WDR11 | 606417 | hypogonadotropic hypogonadism 14 with or without anosmia | AD |
WDR45 | 300526 | neurodegeneration with brain iron accumulation 5 | XLD |
WDR62 | 613583 | primary microcephaly 2 | AR |
WDR81 | 614218 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | AR |
WFS1 | 606201 | congenital nuclear cataract type 41; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome | AD, AR |
WNK1 | 605232 | Neuropathy, hereditary sensory and autonomic, type II; Pseudohypoaldosteronism, type IIC | AD, AR |
WNT1 | 164820 | osteogenesis imperfecta type 15; susceptibility to early-onset autosomal dominant osteoporosis | AR |
WNT10A | 606268 | Tooth agenesis, selective, 4; Schopf-Schulz-Passarge syndrome; Odontoonychodermal dysplasia | AD, AR |
WNT3 | 165330 | Tetra-amelia, autosomal recessive | AR |
WNT5A | 164975 | Robinow syndrome, autosomal dominant | AD |
WNT7A | 601570 | Fuhrmann syndrome; Ulna and fibula, absence of, with sever limb deficiency | AR |
WWOX | 605131 | Esophageal cancer, somatic; autosomal recessive spinocerebellar ataxia 12; early infantile epileptic encephalopathy 28 | AR |
XBP1 | 194355 | ||
XK | 314850 | Mcleod syndrome | XL |
YAP1 | 606608 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation | AD |
YARS1 | 603623 | intermediate type C Charcot-Marie-Tooth | AD |
YWHAE | 605066 | ||
ZBTB16 | 176797 | AR | |
ZBTB18 | 608433 | mental retardation- 22 | AD |
ZDHHC9 | 300646 | syndromic mental retardation, ZDHHC9-related | XL |
ZEB2 | 605802 | Mowat-Wilson syndrome | AD |
ZFYVE26 | 612012 | spastic paraplegia type 15 | AR |
ZFYVE27 | 610243 | spastic paraplegia 33 | AD |
ZIC2 | 603073 | Holoprosencephaly 5 | AD |
ZIC3 | 300265 | Heterotaxy, visceral, 1, x-linked; Vacterl association, x-linked, with or without hydrocephalus | XLR |
ZNF335 | 610827 | primary microcephaly 10 | AR |
ZNF41 | 314995 | ||
ZNF423 | 604557 | nephronophthisis 14; Joubert syndrome 19 | AD, AR |
ZNF711 | 314990 | mental retardation 97 | XL |
ZNF81 | 314998 |
Common syndromes and disorders covered
Amyotrophic lateral sclerosis
Arthrogryposis multiplex congenita
Ataxia
Dementia
Dolichoectasia
Dystonia
Epilepsy
Familial hemiplegic migraine
Frontotemporal dementia
Hypogonadotropic hypogonadism
Intellectual disability
Joubert syndrome
Kallman syndrome
Leigh syndrome
Leukodystrophy and peroxisome biogenesis disorders
Meckel syndrome
Mitochondrial encephalomyopathy
Neonatal mitochondrial hepatopathies
Neuromuscular disorders
Parkinson´s disease
Refsum disease
Spastic paraplegia
Tuberous sclerosis
Zellweger syndrome
Ciliopathies panel
Our ciliopathies panel includes a group of disorders causing cilia dysfunction, including Joubert Syndrome, Bardet- Biedl, COACH syndrome, primary ciliary dyskinesia, Meckel syndrome, skeletal dysplasia, situs inversus, and heterotaxy, among others. If polycystic kidney disease is suspected, CentoNephro Plus is recommended, which includes PKD1 analysis.
No. of genes: | 194 |
TAT: | 25 days |
Coverage: | ≥99.5% ≥20x |
Details: | CNV analysis included |
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
ACVR2B | 602730 | Heterotaxy, visceral, 4, autosomal | |
AGPS | 603051 | rhizomelic chondrodysplasia punctata type 3 | AR |
AHI1 | 608894 | Joubert syndrome 3 | AR |
ALPL | 171760 | adult hypophosphatasia; infantile hypophosphatasia; childhood-onset hypophosphatasia | AD, AR |
ANKH | 605145 | Chondrocalcinosis 2; Craniometaphyseal dysplasia | AD |
ANO5 | 608662 | gnathodiaphyseal dysplasia; limb-girdle muscular dystrophy type 2L | AD, AR |
ARHGAP31 | 610911 | Adams-Oliver syndrome 1 | AD |
ARL13B | 608922 | Joubert syndrome 8 | AR |
ARL6 | 608845 | Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | AR, DiR |
ARMC4 | 615408 | primary ciliary dyskinesia, 23 | AR |
ARSL | 300180 | Chondrodysplasia punctata, X-linked recessive | XLR |
ATR | 601215 | Seckel syndrome 1; ?Cutaneous telangiectasia and cancer syndrome, familial | AD, AR |
B9D1 | 614144 | Meckel Syndrome, Type 9 | AR |
B9D2 | 611951 | Meckel syndrome 10 | AR |
BBS1 | 209901 | Bardet-Biedl syndrome type 1 | AR, DiR |
BBS10 | 610148 | Bardet-Biedl syndrome type 10 | AR |
BBS12 | 610683 | Bardet-Biedl syndrome type 12 | AR |
BBS2 | 606151 | Bardet-Biedl syndrome type 2; retinitis pigmentosa type 74 | AR |
BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
BBS5 | 603650 | Bardet-Biedl syndrome 5 | AR |
BBS7 | 607590 | Bardet-Biedl syndrome type 7 | AR |
BBS9 | 607968 | Bardet-Biedl syndrome type 9 | AR |
BMP1 | 112264 | osteogenesis imperfecta type 13 | AR |
BMPR1B | 603248 | Brachydactyly type A2; Chondrodysplasia, Acromesomelic, With Genital Anomalies | AD, AR |
C8orf37 | 614477 | Cone-rod dystrophy 16; Bardet-Biedl syndrome type 21 | AR |
CANT1 | 613165 | Desbuquois dysplasia type 1 | AR |
CASR | 601199 | Hypocalciuric hypercalcemia, type I; Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant, with Bartter syndrome; Epilepsy idiopathic generalized, susceptibility to, 8 | AD, AR |
CC2D2A | 612013 | COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 | AR |
CCDC103 | 614677 | Ciliary dyskinesia, primary, 17 | AR |
CCDC114 | 615038 | Ciliary dyskinesia, primary, 20 | AR |
CCDC151 | 615956 | primary Ciliary dyskinesia type 30 | AR |
CCDC28B | 610162 | Bardet-Biedl syndrome type 1 | AR, DiR |
CCDC39 | 613798 | Ciliary dyskinesia, primary, 14 | |
CCDC40 | 613799 | Ciliary dyskinesia, primary, 15 | |
CCDC65 | 611088 | Ciliary dyskinesia, primary, 27 | AR |
CCNO | 607752 | primary ciliary dyskinesia type 29 | AR |
CDKN1C | 600856 | Beckwith-Wiedemann syndrome; IMAGE syndrome | AD |
CENPF | 600236 | Stromme syndrome | AR |
CENPJ | 609279 | primary microcephaly 6; Seckel syndrome 4 | AR |
CEP152 | 613529 | Seckel syndrome 5; primary microcephaly 9 | AR |
CEP164 | 614848 | nephronophthisis 15 | AR |
CEP290 | 610142 | Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14 | AR |
CEP41 | 610523 | Joubert syndrome 15 | AR |
CEP63 | 614724 | Seckel syndrome 6 | AR |
CFAP298 | 615494 | primary ciliary dyskinesia type 26 | AR |
CFAP53 | 614759 | Heterotaxy, visceral, 6, autosomal recessive | AR |
CFC1 | 605194 | Heterotaxy, visceral, 2, autosomal | AD |
CHSY1 | 608183 | AR | |
CILK1 | 612325 | AD, AR | |
CLCN5 | 300008 | Dent disease; Hypophosphatemic rickets; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis; Nephrolithiasis, type I | XLR |
COL10A1 | 120110 | METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE | AD |
COL9A3 | 120270 | multiple epiphyseal dysplasia type 3 | AD |
COMP | 600310 | Epiphyseal Dysplasia, Multiple, 1; Pseudoachondroplasia | AD |
CPLANE1 | 614571 | oral-facial-digital syndrome 6; Joubert syndrome 17 | AR |
CRELD1 | 607170 | Atrioventricular septal defect, partial, with heterotaxy syndrome | AD |
CRTAP | 605497 | osteogenesis imperfecta type 7 | AR |
CSPP1 | 611654 | Joubert syndrome 21 | AR |
DDR2 | 191311 | Spondylometaepiphyseal dysplasia, short limb-hand type | AD, AR |
DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
DMP1 | 600980 | Hypophosphatemic Rickets, Autosomal Recessive, 1 | AR |
DNAAF1 | 613190 | Ciliary dyskinesia, primary, 13 | AR |
DNAAF2 | 612517 | Ciliary dyskinesia, primary, 10 | |
DNAAF3 | 614566 | Ciliary dyskinesia, primary, 2 | AR |
DNAAF4 | 608706 | Ciliary dyskinesia, primary, 25 | AD, AR |
DNAAF5 | 614864 | Ciliary dyskinesia, primary, 18 | AR |
DNAH11 | 603339 | primary ciliary dyskinesia type 7, with or without situs inversus | AR |
DNAH5 | 603335 | primary ciliary dyskinesia type 3, with or without situs inversus | |
DNAI1 | 604366 | primary ciliary dyskinesia type 1, with or without situs inversus | AR |
DNAI2 | 605483 | primary ciliary dyskinesia type 9, with or without situs inversus | |
DNAL1 | 610062 | Ciliary dyskinesia, primary, 16 | AR |
DRC1 | 615288 | primary ciliary dyskinesia, 21 | AR |
DYM | 607461 | Dyggve-Melchior-Clausen disease | AR |
DYNC2H1 | 603297 | short-rib thoracic dysplasia-3 with or without polydactyly | AR, DiR |
DYNC2I1 | 615462 | Short-rib thoracic dysplasia 8 with or without polydactyly | AR |
DYNC2I2 | 613363 | Short-rib thoracic dysplasia 11 with or without polydactyly | AR |
EBP | 300205 | MEND syndrome; Chondrodysplasia punctata, X-linked dominant | XLD, XLR |
EIF2AK3 | 604032 | Wolcott-Rallison syndrome | AR |
ENPP1 | 173335 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Arterial calcification, generalized, of infancy, 1; OBESITY; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease | AD, AR |
ESCO2 | 609353 | Roberts syndrome | AR |
EVC | 604831 | Weyers acrofacial dysostosis; Ellis-van Creveld syndrome | AD, AR |
EVC2 | 607261 | Weyers acrofacial dysostosis; Ellis-van Creveld syndrome | AD, AR |
FGF23 | 605380 | Hypophosphatemic rickets, autosomal dominant | AD, AR |
FKBP10 | 607063 | Bruck syndrome 1; osteogenesis imperfecta type 11 | AR |
FLNB | 603381 | Atelosteogenesis, type i; Atelosteogenesis, type iii; Boomerang dysplasia; Larsen syndrome; Spondylocarpotarsal synostosis syndrome | AD, AR |
GDF1 | 602880 | Right atrial isomerism; Transposition of the great arteries, dextro-looped 3 | AD, AR |
GDF5 | 601146 | Brachydactyly type A2; Brachydactyly type C; Grebe type chondrodysplasia; Hunter-Thompson type of acromesomelic dysplasia; Du Pan syndrome; multiple synostoses syndrome type 2; susceptibility to osteoarthritis type 5; brachydactyly type A1; proximal symphalangism type 1B | AD, AR |
GLI2 | 165230 | holoprosencephaly 9; Culler-Jones syndrome | AD |
GLI3 | 165240 | Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B; Preaxial polydactyly type IV; Greig cephalopolysyndactyly syndrome | AD |
GNAS | 139320 | Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism | AD |
GNPAT | 602744 | rhizomelic chondrodysplasia punctata type 2 | AR |
HEXA | 606869 | Tay-Sachs disease/ GM2-gangliosidosis | AR |
HSPG2 | 142461 | Silverman-Handmaker type of dyssegmental dysplasia; Schwartz-Jampel syndrome | AR |
HYDIN | 610812 | primary ciliary dyskinesia type 5 | AR |
HYLS1 | 610693 | Hydrolethalus syndrome | AR |
IFITM5 | 614757 | osteogenesis imperfecta type 5 | AD |
IFT122 | 606045 | Cranioectodermal dysplasia 1 | AR |
IFT140 | 614620 | Mainzer-Saldino syndrome; retinitis pigmentosa type 80 | AR |
IFT172 | 607386 | Short-rib thoracic dysplasia 10 with or without polydactyly | AR |
IFT27 | 615870 | Bardet-Biedl syndrome 19 | AR |
IFT43 | 614068 | Cranioectodermal dysplasia 3 | AR |
IFT80 | 611177 | AR | |
INPP5E | 613037 | Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
INPPL1 | 600829 | Opsismodysplasia | AR |
KIF7 | 611254 | Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 | AR |
LBR | 600024 | Pelger-Huet anomaly; Greenberg skeletal dysplasia | AD, AR |
LEFTY2 | 601877 | ||
LEP | 164160 | Leptin deficiency | AR |
LEPR | 601007 | Morbid obesity due to leptin receptor deficiency | AR |
LIFR | 151443 | Stuve-Wiedemann syndrome | AR |
LRP5 | 603506 | Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus; OSTEOPOROSIS; Osteoporosis-pseudoglioma syndrome; Exudative vitreoretinopathy 4; Bone Mineral Density Quantitative Trait Locus 1; autosomal dominant osteopetrosis type 1; van Buchem disease, type 2 | AD, AR |
LRRC6 | 614930 | Ciliary dyskinesia, primary, 19 | AR |
LZTFL1 | 606568 | Bardet-Biedl syndrome 17 | AR |
MATN3 | 602109 | Epiphyseal dysplasia, multiple, 5 | AD, AR |
MKKS | 604896 | McKusick-Kaufman syndrome; Bardet-Biedl syndrome type 6 | AR |
MKS1 | 609883 | Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 | AR |
MMP13 | 600108 | Metaphyseal dysplasia, Spahr type; Spondyloepimetaphyseal dysplasia, Missouri type | AD, AR |
MMP21 | 608416 | Heterotaxy, visceral, 7, autosomal | AR |
MMP9 | 120361 | Metaphyseal anadysplasia 2 | |
MYO7A | 276903 | Usher syndrome type 1B; deafness type 2; autosomal dominant deafness type 11 | AD, AR |
NEK1 | 604588 | Short-rib thoracic dysplasia 6 with or without polydactyly | AD, AR, DiR |
NEK8 | 609799 | nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 | AR |
NKX2-5 | 600584 | Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects; Tetralogy of Fallot; Conotruncal Heart Malformations; Hypothyroidism, Congenital, Nongoitrous, 5; Ventricular septal defect 3; Hypoplastic left heart syndrome 2 | AD |
NKX3-2 | 602183 | Spondylo-megaepiphyseal-metaphyseal dysplasia | AR |
NME8 | 607421 | Ciliary dyskinesia, primary, 6 | AR |
NODAL | 601265 | Heterotaxy, visceral, 5, autosomal | AD |
NOG | 602991 | proximal symphalangism 1A | AD |
NPHP1 | 607100 | nephronophthisis 1; Joubert syndrome 4 | AR |
NPHP3 | 608002 | Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7; nephronophthisis 3 | AR |
NR0B2 | 604630 | OBESITY | AD, AR |
NSDHL | 300275 | CK syndrome; CHILD syndrome | XLD, XLR |
OFD1 | 300170 | Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 | XLD, XLR |
P3H1 | 610339 | osteogenesis imperfecta type 8 | AR |
PDE6D | 602676 | Joubert syndrome 22 | AR |
PEX7 | 601757 | Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) | AR |
PHEX | 300550 | X-linked dominant hypophosphatemic rickets | XLD |
PHF6 | 300414 | Borjeson-Forssman-Lehmann syndrome | XLR |
PKD1L1 | 609721 | Visceral heterotaxy type 8 | AR |
PKD2 | 173910 | polycystic kidney disease type 2 | AD |
PKHD1 | 606702 | polycystic kidney disease type 4 with or without polycystic liver disease | AR |
PLOD2 | 601865 | Bruck syndrome 2 | AR |
PMM2 | 601785 | congenital disorder of glycosylation type 1a | AR |
PNPLA6 | 603197 | Boucher-Neuhauser syndrome; spastic paraplegia 39 | AR |
POMC | 176830 | OBESITY; Proopiomelanocortin Deficiency | AD, AR |
PPARG | 601487 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; OBESITY; Lipodystrophy, familial partial, type 3 | AD, AR |
PPIB | 123841 | osteogenesis imperfecta type 9 | AR |
PRKAR1A | 188830 | Acrodysostosis 1 With Or Without Hormone Resistance; Carney complex, type 1; Myxoma, intracardiac; Pigmented nodular adrenocortical disease, primary, 1 | AD |
PROM1 | 604365 | Stargardt disease 4; Macular dystrophy, retinal, 2; Retinitis pigmentosa 41; Cone-rod dystrophy 12 | AD, AR |
PRPH2 | 179605 | Retinitis punctata albescens; Patterned dystrophy of retinal pigment epithelium (macular dystrophy); Retinitis pigmentosa 7; vitelliform macular dystrophy-3; Choriodal dystrophy, central areolar 2 | AD, AR |
PTH1R | 168468 | primary failure of tooth eruption; Metaphyseal chondrodysplasia, Murk Jansen type; Chondrodysplasia, Blomstrand type; Eiken syndrome | AD, AR |
RBBP8 | 604124 | Jawad syndrome / Microcephaly with mental retardation and digital anomalies; Seckel syndrome 2 | AR |
RDH5 | 601617 | Retinitis punctata albescens | AD, AR |
RHO | 180380 | Retinitis punctata albescens; Night blindness, congenital stationary, autosomal dominant 1; Retinitis Pigmentosa 4 | AD, AR |
RLBP1 | 180090 | Retinitis punctata albescens | AD, AR |
ROR2 | 602337 | Brachydactyly, type B1; Robinow syndrome, autosomal recessive | AD, AR |
RPGRIP1L | 610937 | COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 | AR |
RSPH1 | 609314 | primary ciliary dyskinesia, 24 | AR |
RSPH4A | 612647 | Ciliary dyskinesia, primary, 11 | |
RSPH9 | 612648 | Ciliary dyskinesia, primary, 12 | |
RUNX2 | 600211 | Cleidocranial dysplasia | AD |
SALL1 | 602218 | Townes-Brocks syndrome | AD |
SALL4 | 607343 | Okihiro syndrome | AD |
SBDS | 607444 | Shwachman-Bodian-Diamond syndrome; Aplastic Anemia | AR |
SDCCAG8 | 613524 | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | AR |
SERPINF1 | 172860 | osteogenesis imperfecta type 6 | AR |
SERPINH1 | 600943 | Preterm premature rupture of the membranes, susceptibility to; osteogenesis imperfecta type 10 | AR |
SLC26A2 | 606718 | Diastrophic dysplasia; multiple epiphyseal dysplasia type 4; Atelosteogenesis type II; Achondrogenesis type IB | AR |
SLC34A3 | 609826 | Hypophosphatemic rickets with hypercalciuria | AR |
SLC35D1 | 610804 | Schneckenbecken dysplasia | AR |
SOX9 | 608160 | campomelic dysplasia | AD |
SPAG1 | 603395 | Primary Ciliary dyskinesia type 28 | AR |
TBX5 | 601620 | Holt-Oram syndrome | AD |
TCTN1 | 609863 | Joubert syndrome 13 | AR |
TCTN2 | 613846 | Meckel syndrome 8; Joubert syndrome type 24 | AR |
TCTN3 | 613847 | oral-facial-digital syndrome 4; Joubert syndrome 18 | AR |
TMEM138 | 614459 | Joubert syndrome 16 | AR |
TMEM216 | 613277 | Meckel Syndrome type 2; Joubert syndrome type 2 | AR |
TMEM231 | 614949 | Joubert syndrome 20; Meckel syndrome, type 11 | AR |
TMEM237 | 614423 | Joubert syndrome 14 | AR |
TMEM67 | 609884 | COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 | AR |
TNFRSF11B | 602643 | Paget disease of bone 5, juvenile-onset | AR |
TRIM32 | 602290 | limb-girdle muscular dystrophy type 2H; Bardet-Biedl syndrome 11 | AR |
TRIP11 | 604505 | Achondrogenesis, type IA | AR |
TRPS1 | 604386 | trichorhinophalangeal syndrome 1 | AD |
TRPV4 | 605427 | Brachyolmia type 3; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type; Hereditary motor and sensory neuropathy, type IIc | AD |
TTC21B | 612014 | Short-rib thoracic dysplasia 4 with or without polydactyly; nephronophthisis 12 | AD, AR |
TTC8 | 608132 | retinitis pigmentosa type 51; Bardet-Biedl syndrome type 8 | AR |
WDPCP | 613580 | Bardet-Biedl syndrome 15 | AR |
WDR19 | 608151 | Short-rib thoracic dysplasia 5 with or without polydactyly; nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8 | AR |
WDR35 | 613602 | Cranioectodermal dysplasia 2 | AR |
WNT5A | 164975 | Robinow syndrome, autosomal dominant | AD |
WNT7A | 601570 | Fuhrmann syndrome; Ulna and fibula, absence of, with sever limb deficiency | AR |
ZIC3 | 300265 | Heterotaxy, visceral, 1, x-linked; Vacterl association, x-linked, with or without hydrocephalus | XLR |
ZMYND10 | 607070 | primary ciliary dyskinesia, 22 | AR |
ZNF423 | 604557 | nephronophthisis 14; Joubert syndrome 19 | AD, AR |
Common syndromes and disorders covered
Bardet-Biedl syndrome
Heterotaxy syndrome
Joubert syndrome
Primary ciliary dyskinesia
Skeletal dysplasia
Skeletal ciliopathy
Dementia panel
Our dementia panel includes genes causing Alzheimer‘s, dementia, and frontotemporal dementia, as well as genes used for differential diagnosis with overlap at any point of the natural history of the disease. Genes inside this panel have been carefully selected to increase the diagnostic yield. Actionable diseases overlapping with the phenotype are included (such as Wilson´s disease, Niemann-Pick disease, and hexosaminidase A deficiency). This panel does not detect Huntington disease.
No. of genes: | 57 |
TAT: | 25 days |
Coverage: | ≥99.5% ≥20x |
Details: | CNV analysis included |
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
ALS2 | 606352 | amyotrophic lateral sclerosis 2; Spastic paralysis, infantile onset ascending | AR |
ANG | 105850 | amyotrophic lateral sclerosis 9 | |
APOE | 107741 | Alzheimer Disease 2; Sea-blue histiocyte disease; Macular Degeneration, Age-Related, 1; early-onset familial Alzheimer disease-3; Lipoprotein glomerulopathy | AD, AR |
APP | 104760 | Alzheimer Disease; Cerebral Amyloid Angiopathy, App-Related | AD |
ARSA | 607574 | metachromatic leukodystrophy | AR |
ATL1 | 606439 | spastic paraplegia 3A | AD |
ATP7B | 606882 | Wilson disease | AR |
ATXN2 | 601517 | Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 2 | AD |
BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy, progressive, with or without lipodystrophy | AD, AR |
C9orf72 | 614260 | frontotemporal dementia and/or amyotrophic lateral sclerosis | AD |
CHCHD10 | 615903 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | AD |
CHMP2B | 609512 | Dementia, familial, nonspecific; amyotrophic lateral sclerosis 17 | AD |
CP | 117700 | aceruloplasminemia | AR |
CSF1R | 164770 | hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia | AD, AR |
DCTN1 | 601143 | amyotrophic lateral sclerosis 1; Perry syndrome; Neuronopathy, Distal Hereditary Motor, Type Viib | AD, AR |
ERBB4 | 600543 | Amyotrophic lateral sclerosis 19 | AD |
FIG4 | 609390 | Yunis-Varon syndrome; type 4J Charcot-Marie-Tooth disease; amyotrophic lateral sclerosis 11; Polymicrogyria, bilateral temporooccipital | AD, AR |
FTL | 134790 | Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 | AD, AR |
FUS | 137070 | amyotrophic lateral sclerosis 6; Tremor, hereditary essential, 4 | AD |
GRN | 138945 | frontotemporal lobar degeneration with ubiquitin-positive inclusions; neuronal ceroid lipofuscinosis type 11 | AD, AR |
HEXA | 606869 | Tay-Sachs disease/ GM2-gangliosidosis | AR |
HNRNPA1 | 164017 | Amyotrophic lateral sclerosis 20 | AD |
HSPD1 | 118190 | spastic paraplegia 13; hypomyelinating leukodystrophy-4 | AD, AR |
ITM2B | 603904 | Cerebral amyloid angiopathy, itm2b-related, 2; Cerebral amyloid angiopathy, itm2b-related, 1 | AD |
KIF5A | 602821 | spastic paraplegia 10; Neonatal intractable myoclonus | AD |
MAPT | 157140 | Susceptibility to late-onset Parkinson disease; Pick disease; Dementia, frontotemporal | AD, AR |
MATR3 | 164015 | Myopathy, Distal, 2 | AD |
NEFH | 162230 | amyotrophic lateral sclerosis 1; Charcot-Marie-Tooth disease, axonal, type 2CC | AD, AR |
NOTCH3 | 600276 | CADASIL; Lateral meningocele syndrome | AD |
NPC1 | 607623 | Niemann-Pick disease type C/D | AR |
OPTN | 602432 | Adult-onset primary open angle glaucoma; Glaucoma, normal tension, susceptibility to; amyotrophic lateral sclerosis 12 | AD |
PANK2 | 606157 | neurodegeneration with brain iron accumulation type 1; HARP syndrome | AR |
PFN1 | 176610 | amyotrophic lateral sclerosis 18 | |
PRNP | 176640 | Creutzfeldt-Jakob disease; Gerstmann-Straussler disease; Kuru, susceptibility to; Insomnia, fatal familial; Huntington disease-like 1; Prion disease with protracted course | AD |
PRPH | 170710 | amyotrophic lateral sclerosis 1 | AD, AR |
PSEN1 | 104311 | Pick disease; Dementia, frontotemporal; early-onset familial Alzheimer disease-3; dilated cardiomyopathy-1U; Acne inversa, familial, 3 | AD |
PSEN2 | 600759 | Alzheimer disease, type 4; dilated cardiomyopathy-1V | AD |
REEP1 | 609139 | spastic paraplegia 31; Neuronopathy, distal hereditary motor, type VB | AD |
SETX | 608465 | amyotrophic lateral sclerosis 4; autosomal recessive spinocerebellar ataxia 1 | AD, AR |
SIGMAR1 | 601978 | distal spinal muscular atrophy type 2; amyotrophic lateral sclerosis 16 | AR |
SLC52A3 | 613350 | Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1 | AR |
SNCA | 163890 | Lewy body dementia; Parkinson disease 1 | AD |
SOD1 | 147450 | amyotrophic lateral sclerosis 1 | AD, AR |
SORL1 | 602005 | ||
SPAST | 604277 | spastic paraplegia-4 | AD |
SPG11 | 610844 | Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X | AR |
SQSTM1 | 601530 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | AD, AR |
TARDBP | 605078 | amyotrophic lateral sclerosis 10 | AD |
TBK1 | 604834 | Frontotemporal dementia and/or amyotrophic lateral sclerosis type 4; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | AD |
TREM2 | 605086 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 2 | AD |
TUBA4A | 191110 | amyotrophic lateral sclerosis 22 | AD |
TYROBP | 604142 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 1 | AR |
UBE3A | 601623 | Angelman syndrome | AD |
UBQLN2 | 300264 | amyotrophic lateral sclerosis 15 | XLD |
VAPB | 605704 | Finkel type late-onset spinal muscular atrophy; amyotrophic lateral sclerosis 8 | AD |
VCP | 601023 | inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; amyotrophic lateral sclerosis 14; Charcot-Marie-Tooth disease type 2Y | AD |
WASHC5 | 610657 | Ritscher-Schinzel syndrome; spastic paraplegia 8 | AD, AR |
Common syndromes and disorders covered
Alzheimer's disease
Dementia
Frontotemporal dementia
Hexosaminidase A deficiency
Niemann-Pick disease
Wilson´s disease
Dystonia panel
Our dystonia panel includes a selection of genes that help to differentiate between different types of dystonia, including isolated, dystonia plus parkinsonism, dystonia plus myoclonus, dystonia plus another dyskinesia, and complex dystonias. Additionally, our panel includes genes associated with primary familial brain calcification, disorders of heavy metal metabolism, neurodegeneration with brain iron accumulation, some lipid storage disorders, arylsulfatase A deficiency, leukodystrophies, and specific metabolic diseases necessary for differential diagnosis. Our dystonia panel provides the knowledge to help solve the genetic cause of dyskinesia. This panel does not detect Huntington disease or diseases with repeat expansion as the mechanism of disease.
No. of genes: | 88 |
TAT: | 25 days |
Coverage: | ≥99.5% ≥20x |
Details: | CNV analysis included |
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
ADAR | 146920 | Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome type 6 | AD, AR |
ADCY5 | 600293 | Dyskinesia, familial, with facial myokymia | AD |
ANO3 | 610110 | Dystonia 24 | AD |
ARSA | 607574 | metachromatic leukodystrophy | AR |
ATM | 607585 | familial breast-ovarian cancer type 2; ataxia-telangiectasia | AD, AR |
ATP13A2 | 610513 | Kufor-Rakeb syndrome; spastic paraplegia type 78 | AR |
ATP1A3 | 182350 | Dystonia 12; Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; Alternating hemiplegia of childhood 2 | AD |
ATP7B | 606882 | Wilson disease | AR |
BCAP31 | 300398 | Deafness, dystonia, and cerebral hypomyelination; ddch contiguous abcd1/dxs1375e deletion syndrome, included; cadds, included | XLR |
BTD | 609019 | biotinidase deficiency | AR |
C19orf12 | 614297 | neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 | AD, AR |
CACNA1B | 601012 | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | AR |
CBS | 613381 | homocystinuria with or without response to pyridoxine | AR |
CLN3 | 607042 | neuronal ceroid lipofuscinosis type 3 | AR |
CLN5 | 608102 | neuronal ceroid lipofuscinosis type 5 | AR |
CLN6 | 606725 | adulte onset neuronal ceroid lipofuscinosis, Kufs type; neuronal ceroid lipofuscinosis type 6 | AR |
CLN8 | 607837 | neuronal ceroid lipofuscinosis type 8; neuronal ceroid lipofuscinosistype 8, Northern epilepsy variant | AR |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12 | AR |
COL6A3 | 120250 | Bethlem myopathy type 1; Ullrich congenital muscular dystrophy; dystonia 27 | AD, AR |
CP | 117700 | aceruloplasminemia | AR |
CTSD | 116840 | neuronal ceroid lipofuscinosis type 10 | AR |
CTSF | 603539 | neuronal ceroid lipofuscinosis type 13 | AR |
D2HGDH | 609186 | D-2-Hydroxyglutaric Aciduria 1 | AR |
DCAF17 | 612515 | Woodhouse-Sakati syndrome | AR |
DDC | 107930 | Aromatic L-amino acid decarboxylase deficiency | AR |
DNAJC5 | 611203 | neuronal ceroid lipofuscinosis type 4, Parry type | AD |
ECHS1 | 602292 | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | AR |
FA2H | 611026 | spastic paraplegia 35 | AR |
FTL | 134790 | Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 | AD, AR |
FUCA1 | 612280 | fucosidosis | AR |
GALC | 606890 | Krabbe disease | AR |
GALT | 606999 | galactosemia | AR |
GAMT | 601240 | guanidinoacetate methyltransferase deficiency | AR |
GATM | 602360 | Cerebral creatine deficiency syndrome 3 | AD, AR |
GCDH | 608801 | glutaric academia type I | AR |
GCH1 | 600225 | dopa-responsive dystonia; Hyperphenylalaninemia, BH4-deficient, B | AD, AR |
GLB1 | 611458 | GM1-gangliosidosis; GM1-gangliosidosis type II; GM1-gangliosidosis type III; mucopolysaccharidosis type IVB | AR |
GM2A | 613109 | GM2-gangliosidosis, AB variant | AR |
GNAL | 139312 | dystonia 25 | AD |
GRN | 138945 | frontotemporal lobar degeneration with ubiquitin-positive inclusions; neuronal ceroid lipofuscinosis type 11 | AD, AR |
HPCA | 142622 | dystonia 2 | AR |
HPRT1 | 308000 | Lesch-Nyhan syndrome; Kelley-Seegmiller syndrome | XLR |
KCNMA1 | 600150 | Generalized epilepsy and paroxysmal dyskinesia; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16 | AD, AR |
KCTD17 | 616386 | Dystonia 26, myoclonic | AD |
KCTD7 | 611725 | progressive myoclonic epilepsy type 3 with or without intracellular inclusions | AR |
MCEE | 608419 | Methylmalonyl-coa epimerase deficiency | AR |
MFSD8 | 611124 | neuronal ceroid lipofuscinosis type 7; macular dystrophy with central cone involvement | AR |
MMAA | 607481 | methylmalonic aciduria (MMA) of the cblA complementation type | AR |
MMAB | 607568 | methylmalonic aciduria (MMA) of the cblB complementation type | AR |
MMADHC | 611935 | methylmalonic aciduria (MMA) of the cblD complementation type | AR |
MMUT | 609058 | complete deficiency of methylmalonyl-CoA mutase | AR |
NPC1 | 607623 | Niemann-Pick disease type C/D | AR |
NPC2 | 601015 | Niemann-Pick disease type C2 | AR |
PAH | 612349 | phenylketonuria | AR |
PANK2 | 606157 | neurodegeneration with brain iron accumulation type 1; HARP syndrome | AR |
PLA2G6 | 603604 | infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 | AR |
PLP1 | 300401 | Pelizaeus-Merzbacher disease; spastic paraplegia 2 | XLR |
PNKD | 609023 | dystonia 8 | AD |
POLG | 174763 | progressive external ophthalmoplegia; mitochondrial DNA depletion syndrome type 4A; autosomal recessive progressive external ophthalmoplegia; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; mitochondrial DNA depletion syndrome type 4B | AD, AR |
PPT1 | 600722 | neuronal ceroid lipofuscinosis type 1 | AR |
PRKN | 602544 | Ovarian Cancer; Lung Cancer; Parkinson disease 2 | AR |
PRKRA | 603424 | dystonia 16 | AR |
PRRT2 | 614386 | Episodic kinesigenic dyskinesia 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2 | AD |
RELN | 600514 | lissencephaly 2; familial temporal lobe epilepsy, 7 | AD, AR |
RNASEH2A | 606034 | Aicardi-Goutieres syndrome type 4 | AR |
RNASEH2B | 610326 | Aicardi-Goutieres syndrome type 2 | AR |
RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
SAMHD1 | 606754 | Aicardi-Goutieres syndrome type 5; Chilblain lupus type 2 | AD, AR |
SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL syndrome). | AR |
SGCE | 604149 | myoclonus-dystonia | AD |
SLC19A3 | 606152 | biotin-thiamine-responsive basal ganglia disease | AR |
SLC20A2 | 158378 | Basal ganglia calcification, idiopathic, 1 | AD |
SLC2A1 | 138140 | Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12 | AD, AR |
SLC30A10 | 611146 | Hypermanganesemia with dystonia, polycythemia, and cirrhosis | AR |
SLC6A3 | 126455 | Tobacco Addiction, Susceptibility To; Parkinsonism-dystonia, infantile | AR |
SLC6A8 | 300036 | Cerebral creatine deficiency syndrome type 1 | XLR |
SPR | 182125 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
SUCLA2 | 603921 | mitochondrial DNA depletion syndrome 5 | AR |
TH | 191290 | Segawa syndrome | AR |
THAP1 | 609520 | dystonia 6 | AD |
TIMM8A | 300356 | Mohr-Tranebjaerg syndrome | XLR |
TOR1A | 605204 | dystonia 1 | AD |
TPP1 | 607998 | neuronal ceroid lipofuscinosis type 2; autosomal recessive spinocerebellar ataxia type 7 | AR |
TREX1 | 606609 | systemic lupus erythematosus; retinal vasculopathy with cerebral leukodystrophy; Aicardi-Goutieres syndrome type 1; chilblain lupus type 1 | AD, AR |
TUBB4A | 602662 | dystonia 4; hypomyelinating leukodystrophy-6 | AD |
VPS13A | 605978 | Choreoacanthocytosis | AR |
WDR45 | 300526 | neurodegeneration with brain iron accumulation 5 | XLD |
XK | 314850 | Mcleod syndrome | XL |
Common syndromes and disorders covered
Complex dystonia
Disorders of heavy metal metabolism
Dopa-responsive dystonia
Dystonia
Leukodystrophy
Myoclonic dystonia
Primary familial brain calcification
Epilepsy panel
While some types of seizures are easily categorized (i.e., partial or generalized), others are not or might later develop into different types (i.e., partial seizures with secondary generalization), making targeted panel testing less likely to succeed at reaching a diagnosis. Our epilepsy panel is a phenotype-directed panel that covers different types of seizure syndromes, covering Dravet syndrome, early infantile epileptic encephalopathy, epilepsy partial, epilepsy generalized, epilepsy absence, myoclonic epilepsy panel, and hypomagnesemia. This panel does not include mitochondrial genes (i.e., genes causing myoclonic epilepsy with ragged red fibers -MERRF-). If the clinical suspicion is oriented towards metabolic or mitochondrial disorders, please order CentoMito® comprehensive.
No. of genes: | 547 |
TAT: | 25 days |
Coverage: | ≥99.5% ≥20x |
Details: | CNV analysis included Repeat expansion analysis: CSTB |
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
AARS1 | 601065 | type 2N Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 29 | AD, AR |
AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure | AR |
ABCC8 | 600509 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; leucine-sensitive hypoglycemia of infancy; familial hyperinsulinemic hypoglycemia type 1; transient neonatal diabetes mellitus type 2 | AD, AR |
ABCD1 | 300371 | adrenoleukodystrophy | XLR |
ABCD3 | 170995 | congenital bile acid synthesis defect-5 | AR |
ACAD9 | 611103 | Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of | AR |
ACADM | 607008 | medium chain acyl-CoA dehydrogenase deficiency | AR |
ACADS | 606885 | short-chain acyl-CoA dehydrogenase deficiency | AR |
ACADVL | 609575 | very long chain acyl-CoA dehydrogenase deficiency | AR |
ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency | AR |
ACY1 | 104620 | Aminoacylase 1 deficiency | AR |
ADA | 608958 | Adenosine deaminase deficiency | AR |
ADAMTSL2 | 612277 | Geleophysic dysplasia 1 | AR |
ADAR | 146920 | Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome type 6 | AD, AR |
ADGRG1 | 604110 | bilateral frontoparietal polymicrogyria; bilateral perisylvian polymicrogyria | AR |
ADSL | 608222 | Adenylosuccinase deficiency | AR |
AFG3L2 | 604581 | spinocerebellar ataxia 28; spastic ataxia 5 | AD, AR |
AGA | 613228 | Aspartylglucosaminuria | AR |
AGK | 610345 | Sengers syndrome; autosomal recessive cataract type 38 | AR |
AGPS | 603051 | rhizomelic chondrodysplasia punctata type 3 | AR |
AIFM1 | 300169 | Deafness, X-linked 5; Combined oxidative phosphorylation deficiency 6; Cowchock syndrome | XLR |
AIMP1 | 603605 | hypomyelinating leukodystrophy-3 | AR |
ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
ALDH7A1 | 107323 | pyridoxine-dependent epilepsy | AR |
ALDOB | 612724 | hereditary fructose intolerance | AR |
ALG1 | 605907 | congenital disorder of glycosylation type 1k | AR |
ALG11 | 613666 | congenital disorder of glycosylation type 1p | AR |
ALG12 | 607144 | congenital disorder of glycosylation type 1g | AR |
ALG13 | 300776 | congenital disorder of glycosylation type 1s | XLD |
ALG2 | 607905 | congenital disorder of glycosylation type 1i | AR |
ALG3 | 608750 | congenital disorder of glycosylation type 1d | AR |
ALG6 | 604566 | congenital disorder of glycosylation type 1c | AR |
ALG8 | 608103 | congenital disorder of glycosylation type 1h | AD, AR |
ALG9 | 606941 | Gillessen-Kaesbach-Nishimura syndrome; congenital disorder of glycosylation type 1l | AR |
AMT | 238310 | glycine encephalopathy | AR |
ANTXR2 | 608041 | Hyaline fibromatosis syndrome | AR |
AP3B1 | 603401 | Hermansky-Pudlak syndrome type 2 | AR |
AP4B1 | 607245 | spastic paraplegia 47 | AR |
AP4E1 | 607244 | spastic paraplegia 51 | AD, AR |
AP4M1 | 602296 | autosomal recessive spastic paraplegia type 50 | AR |
AP4S1 | 607243 | spastic paraplegia 52 | AR |
APP | 104760 | Alzheimer Disease; Cerebral Amyloid Angiopathy, App-Related | AD |
APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
ARG1 | 608313 | Argininemia | AR |
ARHGEF9 | 300429 | Epileptic encephalopathy, early infantile, 8 | XLR |
ARSA | 607574 | metachromatic leukodystrophy | AR |
ARSB | 611542 | mucopolysaccharidosis type VI | AR |
ARV1 | 611647 | early infantile epileptic encephalopathy type 38 | AR |
ARX | 300382 | Proud syndrome; X-linked lissencephaly-2; ARX- related mental retardation; early infantile epileptic encephalopathy 1; Partington X-Linked Mental Retardation Syndrome | XL, XLR |
ASAH1 | 613468 | Spinal muscular atrophy with progressive myoclonic epilepsy; Farber lipogranulomatosis | AR |
ASL | 608310 | argininosuccinic aciduria | AR |
ASPA | 608034 | Canavan disease | AR |
ASS1 | 603470 | citrullinemia | AR |
ATM | 607585 | familial breast-ovarian cancer type 2; ataxia-telangiectasia | AD, AR |
ATP13A2 | 610513 | Kufor-Rakeb syndrome; spastic paraplegia type 78 | AR |
ATP1A2 | 182340 | familial hemiplegic migraine type 2 | AD |
ATP6V0A2 | 611716 | autosomal recessive cutis laxa type IIA; Wrinkly skin syndrome | AR |
ATP7A | 300011 | X-linked distal spinal muscular atrophy type 3; Occipital horn syndrome; Menkes disease | XLR |
ATP7B | 606882 | Wilson disease | AR |
ATPAF2 | 608918 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | AR |
AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
B3GALNT2 | 610194 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11 | AR |
B3GLCT | 610308 | Peters-plus syndrome | AR |
B4GALT1 | 137060 | congenital disorder of glycosylation type 2d | AR |
BCAP31 | 300398 | Deafness, dystonia, and cerebral hypomyelination; ddch contiguous abcd1/dxs1375e deletion syndrome, included; cadds, included | XLR |
BCKDHA | 608348 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
BCKDHB | 248611 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
BCS1L | 603647 | Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome | AR, M |
BEST1 | 607854 | vitelliform macular dystrophy-2; vitreoretinochoroidopathy; Bestrophinopathy, autosomal recessive; Retinitis pigmentosa 50 | AD |
BOLA3 | 613183 | Multiple mitochondrial dysfunctions syndrome 2 | AR |
BRAT1 | 614506 | Rigidity and multifocal seizure syndrome, lethal neonatal; neurodevelopmental disorder with cerebellar atrophy and with or without seizures | AR |
BTD | 609019 | biotinidase deficiency | AR |
C12orf65 | 613541 | Combined oxidative phosphorylation deficiency 7 | AR |
C19orf12 | 614297 | neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 | AD, AR |
CA5A | 114761 | Hyperammonemia due to carbonic anhydrase VA deficiency | AR |
CACNA1A | 601011 | episodic ataxia type 2; familial hemiplegic migraine 1; spinocerebellar ataxia 6; early infantile epileptic encephalopathy, 42 | AD |
CACNA1H | 607904 | childhood absence epilepsy type 6 | AD |
CACNB4 | 601949 | Epilepsy, Idiopathic Generalized, Susceptibility To, 9; Episodic ataxia, type 5 | AD |
CASK | 300172 | Fg Syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia | XLD |
CAV1 | 601047 | AD, AR | |
CDKL5 | 300203 | early infantile epileptic encephalopathy 2 | XLD |
CERS1 | 606919 | Progressive myoclonic epilepsy-8 | AR |
CHD2 | 602119 | childhood-onset epileptic encephalopathy | AD |
CHRNA2 | 118502 | Epilepsy, Nocturnal Frontal Lobe, 4 | AD |
CHRNA4 | 118504 | Tobacco Addiction, Susceptibility To; Epilepsy, nocturnal frontal lobe, 1 | AD |
CHRNB2 | 118507 | Epilepsy, nocturnal frontal lobe, 3 | |
CLCN2 | 600570 | Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Leukoencephalopathy with ataxia | AD, AR |
CLCN4 | 302910 | MENTAL RETARDATION, X-LINKED 49 | XLD |
CLDN16 | 603959 | renal hypomagnesemia type 3 | AR |
CLDN19 | 610036 | Hypomagnesemia 5, renal, with ocular involvement | AR |
CLN3 | 607042 | neuronal ceroid lipofuscinosis type 3 | AR |
CLN5 | 608102 | neuronal ceroid lipofuscinosis type 5 | AR |
CLN6 | 606725 | adulte onset neuronal ceroid lipofuscinosis, Kufs type; neuronal ceroid lipofuscinosis type 6 | AR |
CLN8 | 607837 | neuronal ceroid lipofuscinosis type 8; neuronal ceroid lipofuscinosistype 8, Northern epilepsy variant | AR |
CLPP | 601119 | Perrault syndrome 3 | AR |
CNNM2 | 607803 | Hypomagnesemia 6, renal; hypomagnesemia, seizures, and mental retardation type 1 | AD, AR |
CNTNAP2 | 604569 | Pitt-Hopkins like syndrome 1; Autism susceptibility 15 | AR |
COA8 | 616003 | Mitochondrial complex IV deficiency | AR, M |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12 | AR |
COG1 | 606973 | Congenital disorder of glycosylation, type IIg | AR |
COG4 | 606976 | congenital disorder of glycosylation type 2j; Saul-Wilson syndrome | AD, AR |
COG5 | 606821 | Congenital disorder of glycosylation, type IIi | AR |
COG6 | 606977 | congenital disorder of glycosylation type 2l; Shaheen syndrome | AR |
COG7 | 606978 | Congenital disorder of glycosylation, type IIe | AR |
COG8 | 606979 | congenital disorder of glycosylation type 2h | |
COL11A2 | 120290 | Stickler syndrome, type III; Otospondylomegaepiphyseal dysplasia; Deafness, autosomal dominant 13; Deafness, autosomal recessive 53; Fibrochondrogenesis 2 | AD, AR |
COL2A1 | 120140 | Epiphyseal dysplasia, multiple, with myopia and deafness; Legg-Calve-Perthes disease; Platyspondylic skeletal dysplasia, Torrance type; Kniest dysplasia; congenital spondyloepiphyseal dysplasia; SMED Strudwick type; Achondrogenesis, type II or hypochondrogenesis; Spondyloperipheral dysplasia; Osteoarthritis with mild chondrodysplasia; Avascular necrosis of the femoral head; Czech dysplasia; Stickler syndrome type 1; Stanescu type spondyloepiphyseal dysplasia | AD |
COL4A1 | 120130 | porencephaly 1; Brain small vessel disease with or without ocular anomalies; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Hemorrhage, intracerebral, susceptibility to | AD |
COL4A2 | 120090 | Brain small vessel disease type 2; Hemorrhage, intracerebral, susceptibility to | AD |
COQ2 | 609825 | Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1 | AD, AR |
COQ8A | 606980 | primary Coenzyme Q10 deficiency type 4 - COQ10D4 | AR |
COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
COX10 | 602125 | Mitochondrial complex IV deficiency; Leigh syndrome | AR, M |
COX15 | 603646 | Leigh syndrome; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | AR, M |
COX20 | 614698 | Mitochondrial complex IV deficiency | AR, M |
COX6B1 | 124089 | Mitochondrial complex IV deficiency | AR, M |
CP | 117700 | aceruloplasminemia | AR |
CPA6 | 609562 | Epilepsy, familial temporal lobe, 5; Febrile seizures, familial, 11 | AD, AR |
CPS1 | 608307 | carbamoyl-phosphate synthetase 1 deficiency | AR |
CPT1A | 600528 | hepatic CPT deficiency type IA | AR |
CPT2 | 600650 | stress-induced myopathic CPT II deficiency; infantile CPT deficiency; lethal neonatal CPT II deficiency; susceptibility to infection-induced acute encephalopathy type 4 | AD, AR |
CSF1R | 164770 | hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia | AD, AR |
CSTB | 601145 | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | AR |
CTC1 | 613129 | Cerebroretinal microangiopathy with calcifications and cysts | AR |
CTNS | 606272 | ocular nonnephropathic cystinosis; cystinosis; late-onset juvenile or adolescent nephropathic cystinosis | AR |
CTSA | 613111 | galactosialidosis | AR |
CTSC | 602365 | Papillon-Lefevre syndrome | AR |
CTSD | 116840 | neuronal ceroid lipofuscinosis type 10 | AR |
CTSF | 603539 | neuronal ceroid lipofuscinosis type 13 | AR |
CTSK | 601105 | pycnodysostosis | AR |
CYP27A1 | 606530 | cerebrotendinous xanthomatosis | AR |
CYP2U1 | 610670 | spastic paraplegia 56 | AR |
CYP7B1 | 603711 | spastic paraplegia 5A | AR |
D2HGDH | 609186 | D-2-Hydroxyglutaric Aciduria 1 | AR |
DAG1 | 128239 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type C9 | AR |
DARS2 | 610956 | leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
DBT | 248610 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
DCAF17 | 612515 | Woodhouse-Sakati syndrome | AR |
DDOST | 602202 | Congenital disorder of glycosylation, type Ir | AR |
DEPDC5 | 614191 | Epilepsy, familial focal, with variable foci | AD |
DGUOK | 601465 | mitochondrial DNA depletion syndrome 3 | AR |
DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
DHDDS | 608172 | retinitis pigmentosa type 59; Developmental delay and seizures with or without movement abnormalities | AD, AR |
DKC1 | 300126 | X-linked dyskeratosis congenita | XLR |
DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
DLD | 238331 | dihydrolipoamide dehydrogenase deficiency | AR |
DNAJC5 | 611203 | neuronal ceroid lipofuscinosis type 4, Parry type | AD |
DNM1 | 602377 | early infantile epileptic encephalopathy, 31 | AD |
DNM1L | 603850 | Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission | AD, AR |
DOCK7 | 615730 | early infantile epileptic encephalopathy 23 | AR |
DOLK | 610746 | congenital disorder of glycosylation type 1m | AR |
DPAGT1 | 191350 | congenital disorder of glycosylation type 1j; Myasthenic syndrome, congenital, with tubular aggregates 13 | AR |
DPM1 | 603503 | Congenital disorder of glycosylation, type Ie | AR |
DPM2 | 603564 | Congenital disorder of glycosylation, type Iu | AR |
DPM3 | 605951 | congenital disorder of glycosylation, type Io | AR |
DPYD | 612779 | Dihydropyrimidine dehydrogenase deficiency | AR |
DYM | 607461 | Dyggve-Melchior-Clausen disease | AR |
DYRK1A | 600855 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 | AD |
EARS2 | 612799 | Combined oxidative phosphorylation deficiency 12 | AR |
ECHS1 | 602292 | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | AR |
EEF1A2 | 602959 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; early infantile epileptic encephalopathy type 33 | AD |
EFHC1 | 608815 | Epilepsy, myoclonic juvenile | AD |
EGF | 131530 | Hypomagnesemia 4, renal | |
EIF2B1 | 606686 | leukoencephaly with vanishing white matter | AR |
EIF2B2 | 606454 | leukoencephaly with vanishing white matter | AR |
EIF2B3 | 606273 | leukoencephaly with vanishing white matter | AR |
EIF2B4 | 606687 | leukoencephaly with vanishing white matter | AR |
EIF2B5 | 603945 | leukoencephaly with vanishing white matter | AR |
EPM2A | 607566 | Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora) | AR |
ERCC6 | 609413 | Cockayne syndrome, type B; Lung Cancer; Cerebrooculofacioskeletal syndrome 1 | AD, AR |
ETFA | 608053 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETFB | 130410 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETFDH | 231675 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETHE1 | 608451 | ethylmalonic encephalopathy | AR |
F2 | 176930 | thrombophilia due to thrombin defect; susceptibility to ischemic stroke; congenital prothrombin deficiency; susceptibility to recurrent pregnancy loss type 2 | AD, AR |
F5 | 612309 | thrombophilia due to activated protein C resistance; factor V deficiency; Budd-Chiari syndrome; susceptibility to ischemic stroke; susceptibility to recurrent pregnancy loss type 1 | AD, AR |
FA2H | 611026 | spastic paraplegia 35 | AR |
FAH | 613871 | tyrosinemia type 1 | AR |
FAM126A | 610531 | hypomyelinating leukodystrophy-5 | AR |
FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14; spastic paraplegia type 77 | AR |
FASTKD2 | 612322 | AR | |
FBN1 | 134797 | Marfan syndrome; stiff skin syndrome; Weill-Marchesani syndrome 2; geleophysic dysplasia 2; Marfan lipodystrophy syndrome | AD |
FBXL4 | 605654 | mitochondrial DNA depletion syndrome 13 | AR |
FGF12 | 601513 | AD | |
FH | 136850 | Leiomyomatosis and renal cell cancer; Fumarase deficiency | AD, AR |
FHL1 | 300163 | Scapuloperoneal myopathy, X-linked dominant; Myopathy, X-linked, with postural muscle atrophy; Emery-Dreifuss muscular dystrophy 6; Myopathy, Reducing Body, X-Linked, Early-Onset, Severe; Myopathy, reducing body, X-linked, childhood-onset | XL, XLD, XLR |
FOLR1 | 136430 | cerebral folate transport deficiency | AR |
FOXG1 | 164874 | Rett syndrome, congenital variant | AD |
FOXRED1 | 613622 | AR | |
FRRS1L | 604574 | Epileptic encephalopathy, early infantile, 37 | AR |
FTL | 134790 | Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 | AD, AR |
FUCA1 | 612280 | fucosidosis | AR |
FXYD2 | 601814 | Hypomagnesemia-2, renal | AD |
GAA | 606800 | Pompe disease | AR |
GABRA1 | 137160 | Epilepsy, Juvenile Myoclonic, Susceptibility To, 5; early infantile epileptic encephalopathy, 19 | AD |
GABRB3 | 137192 | Epilepsy, Childhood Absence, Susceptibility To, 5 | AD |
GABRD | 137163 | Epilepsy, idiopathic generalized, 10 | AD |
GABRG2 | 137164 | Epilepsy, Childhood Absence, Susceptibility To, 2; Generalized epilepsy with febrile seizures plus type 3 | AD |
GALC | 606890 | Krabbe disease | AR |
GALNS | 612222 | mucopolysaccharidosis type IVA | AR |
GALT | 606999 | galactosemia | AR |
GAMT | 601240 | guanidinoacetate methyltransferase deficiency | AR |
GAN | 605379 | giant axonal neuropathy | AR |
GBA | 606463 | Lewy body dementia; Susceptibility to late-onset Parkinson disease; Gaucher disease type 1; Gaucher disease type 2 (acute); Gaucher disease type 3 (subacute/ chronic); Gaucher disease, cardiovascular form; Gaucher disease, perinatal-lethal form | AD, AR |
GBE1 | 607839 | storage disease type 4; Polyglucosan body disease, adult form | AR |
GCDH | 608801 | glutaric academia type I | AR |
GCSH | 238330 | glycine encephalopathy | AR |
GFAP | 137780 | Alexander disease | AD |
GFER | 600924 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | |
GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
GFM2 | 606544 | AR | |
GFPT1 | 138292 | congenital myasthenic syndrome with tubular aggregates type 1 | AR |
GJA1 | 121014 | Oculodentodigital dysplasia | AD, AR |
GJB1 | 304040 | Charcot-Marie-Tooth disease type 1 | XLD |
GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2; spastic paraplegia 44 | AD, AR |
GLA | 300644 | Fabry disease; Fabry disease, atypical cardiac variant | XL |
GLB1 | 611458 | GM1-gangliosidosis; GM1-gangliosidosis type II; GM1-gangliosidosis type III; mucopolysaccharidosis type IVB | AR |
GLDC | 238300 | glycine encephalopathy | AR |
GLUD1 | 138130 | familial hyperinsulinemic hypoglycemia-6 | AD |
GLUL | 138290 | Glutamine deficiency, congenital | AR |
GM2A | 613109 | GM2-gangliosidosis, AB variant | AR |
GMPPA | 615495 | Alacrima, achalasia, and mental retardation syndrome | AR |
GNAO1 | 139311 | early infantile epileptic encephalopathy 17; neurodevelopmental disorder with involuntary movements | AD |
GNE | 603824 | Sialuria; Nonaka myopathy | AD, AR |
GNPAT | 602744 | rhizomelic chondrodysplasia punctata type 2 | AR |
GNPTAB | 607840 | mucolipidosis II alpha/beta; mucolipidosis III alpha/beta | AR |
GNPTG | 607838 | mucolipidosis III gamma | AR |
GNS | 607664 | mucopolysaccharidosis type IIID | AR |
GOSR2 | 604027 | Epilepsy, progressive myoclonic 6 | AR |
GPC3 | 300037 | Wilms tumor, type 1; Simpson-Golabi-Behmel syndrome, type 1 | XLR |
GRIN1 | 138249 | mental retardation- 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures | AD, AR |
GRIN2A | 138253 | Epilepsy, focal, with speech disorder and with or without mental retardation | AD |
GRIN2B | 138252 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; early infantile epileptic encephalopathy 27 | AD |
GRN | 138945 | frontotemporal lobar degeneration with ubiquitin-positive inclusions; neuronal ceroid lipofuscinosis type 11 | AD, AR |
GTPBP3 | 608536 | Combined oxidative phosphorylation deficiency 23 | AR |
GUF1 | 617064 | early infantile epileptic encephalopathy, 40 | AR |
GUSB | 611499 | mucopolysaccharidosis type VII | AR |
HADHA | 600890 | mitochondrial trifunctional protein deficiency; long-chain 3-hydroxyl-CoA dehydrogenase deficiency | AR |
HADHB | 143450 | mitochondrial trifunctional protein deficiency | AR |
HCFC1 | 300019 | mental retardation 3 | XLR |
HCN1 | 602780 | early infantile epileptic encephalopathy 24 | AD |
HEPACAM | 611642 | megalencephalic leukoencephalopathy with subcortical cysts type 2A; megalencephalic leukoencephalopathy with subcortical cysts type 2B, remitting, with or without mental retardation | AD, AR |
HEXA | 606869 | Tay-Sachs disease/ GM2-gangliosidosis | AR |
HEXB | 606873 | Sandhoff disease | AR |
HGSNAT | 610453 | mucopolysaccharidosis type IIIC; retinitis pigmentosa type 73 | AR |
HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
HMGCS2 | 600234 | HMG-CoA synthase-2 deficiency | AR |
HNRNPU | 602869 | Epileptic encephalopathy, early infantile, 54 | AD |
HRAS | 190020 | Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome | AD |
HSD17B4 | 601860 | Perrault syndrome type 1; D-bifunctional protein deficiency | AR |
HSPD1 | 118190 | spastic paraplegia 13; hypomyelinating leukodystrophy-4 | AD, AR |
HTRA1 | 602194 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 | AD, AR |
HYAL1 | 607071 | Mucopolysaccharidosis type IX | AR |
IARS2 | 612801 | Cataracts, Growth Hormone Deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia | AR |
IBA57 | 615316 | Multiple mitochondrial dysfunctions syndrome 3 | AR |
IDS | 300823 | mucopolysaccharidosis type II | XLR |
IDUA | 252800 | mucopolysaccharidosis type IH; mucopolysaccharidosis type 1; mucopolysaccharidosis type IS | AR |
IFIH1 | 606951 | Singleton-Merten syndrome type 1; Aicardi-Goutieres syndrome 7 | AD |
IQSEC2 | 300522 | MENTAL RETARDATION, X-LINKED 1 | XLD |
ISCA2 | 615317 | Multiple mitochondrial dysfunctions syndrome type 4 | AR |
ITPA | 147520 | Epileptic encephalopathy, early infantile, 35 | AR |
IVD | 607036 | isovaleric acidemia | AR |
JAG1 | 601920 | Alagille syndrome; Tetralogy of Fallot | AD |
JAM3 | 606871 | Hemorrhagic destruction of the brain, subpendymal calcification, and cataracts | AR |
KCNA1 | 176260 | Episodic ataxia/myokymia syndrome | AD |
KCNA2 | 176262 | Epileptic encephalopathy, early infantile, 32 | AD |
KCNB1 | 600397 | early infantile epileptic encephalopathy 26 | AD |
KCNC1 | 176258 | Progressive myoclonic epilepsy 7 | AD |
KCNJ10 | 602208 | autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance | AR |
KCNMA1 | 600150 | Generalized epilepsy and paroxysmal dyskinesia; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16 | AD, AR |
KCNQ2 | 602235 | benign familial neonatal epilepsy; early-onset epileptic encephalopathy 7 | AD |
KCNQ3 | 602232 | Seizures, Benign Familial Neonatal, 2 | AD |
KCNT1 | 608167 | early infantile epileptic encephalopathy 14; nocturnal frontal lobe epilepsy 5 | AD |
KCTD7 | 611725 | progressive myoclonic epilepsy type 3 with or without intracellular inclusions | AR |
KIF5A | 602821 | spastic paraplegia 10; Neonatal intractable myoclonus | AD |
L2HGDH | 609584 | L-2-hydroxyglutaric aciduria | AR |
LAMA2 | 156225 | congenital muscular dystrophy type 1A; limb-girdle Muscular dystrophy type 23 | AR |
LAMB1 | 150240 | lissencephaly 5 | AR |
LAMP2 | 309060 | Danon disease | XLD |
LARGE1 | 603590 | congenital muscular dystrophy-dystroglycanopathy with mental retardation type B6; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6 | AR |
LDB3 | 605906 | dilated cardiomyopathy-1C; Myopathy, myofibrillar, 4 | AD |
LGI1 | 604619 | Epilepsy, familial temporal lobe, 1 | AD |
LIAS | 607031 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | AR |
LIPA | 613497 | Wolman disease / cholesteryl ester storage disease | AR |
LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
LMNB1 | 150340 | Leukodystrophy, adult-onset, autosomal dominant | AD |
LRPPRC | 607544 | Leigh syndrome, French-Canadian type | AR |
LYRM7 | 615831 | Mitochondrial complex III deficiency nuclear type 8 | AR |
LYST | 606897 | Chediak-Higashi syndrome | AR |
MAGT1 | 300715 | Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia | XLR |
MAN1B1 | 604346 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | AR |
MAN2B1 | 609458 | alpha-mannosidosis | AR |
MANBA | 609489 | Mannosidosis, Beta A, Lysosomal | AR |
MARS2 | 609728 | AR | |
MBD5 | 611472 | mental retardation-1 | AD |
MCCC1 | 609010 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
MCCC2 | 609014 | 3-methylcrotonyl-CoA carboxylase 2 deficiency | AR |
MCOLN1 | 605248 | Mucolipidosis type IV | AR |
MECP2 | 300005 | MENTAL RETARDATION, X-LINKED 13; X-linked syndromic mental retardation, Lubs type; Autism susceptibility, X-linked 3; severe neonatal encephalopathy; Rett syndrome | XL, XLD, XLR |
MED17 | 603810 | postnatal progressive microcephaly, seizures, and brain atrophy | AR |
MEF2C | 600662 | mental retardation- 20 | AD |
MFN2 | 608507 | hereditary motor and sensory neuropathy type VIA with optic atrophy; axonal Charcot-Marie-Tooth disease type 2A2A; axonal Charcot-Marie-Tooth disease type 2A2B | AD, AR |
MFSD8 | 611124 | neuronal ceroid lipofuscinosis type 7; macular dystrophy with central cone involvement | AR |
MGAT2 | 602616 | Congenital disorder of glycosylation, type IIa | AR |
MGME1 | 615076 | mitochondrial DNA depletion syndrome 11 | AR |
MLC1 | 605908 | megalencephalic leukoencephalopathy with subcortical cysts type 1 | AR |
MLPH | 606526 | Griscelli syndrome, type 3 | AR |
MMAA | 607481 | methylmalonic aciduria (MMA) of the cblA complementation type | AR |
MMAB | 607568 | methylmalonic aciduria (MMA) of the cblB complementation type | AR |
MMACHC | 609831 | Methylmalonic aciduria and homocystinuria, cblC type, digenic type included | AR |
MMADHC | 611935 | methylmalonic aciduria (MMA) of the cblD complementation type | AR |
MMUT | 609058 | complete deficiency of methylmalonyl-CoA mutase | AR |
MOCS1 | 603707 | molybdenum cofactor deficiency of complementation group A | AR |
MOCS2 | 603708 | molybdenum cofactor deficiency of complementation group B | AR |
MOGS | 601336 | congenital disorder of glycosylation type 2b | AR |
MPDU1 | 604041 | congenital disorder of glycosylation type 1f | AR |
MPI | 154550 | congenital disorder of glycosylation type 1b | AR |
MPV17 | 137960 | mitochondrial DNA depletion syndrome type 6 | AR |
MRPL44 | 611849 | combined oxidative phosphorylation deficiency type 16 | AR |
MRPS22 | 605810 | Combined oxidative phosphorylation deficiency 5 | AR |
MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15 | AR |
MTHFR | 607093 | schizophrenia; thrombophilia due to thrombin defect; homocystinuria due to MTHFR deficiency; folate-sensitive neural tube defects | AD, AR |
MTOR | 601231 | Smith-Kingsmore syndrome | AD |
MTR | 156570 | homocystinuria-megaloblastic anemia, cblG complementation type; folate-sensitive neural tube defects | AR |
MYO5A | 160777 | Griscelli syndrome, type 1 | AR |
MYOT | 604103 | Myopathy, spheroid body; Myopathy, myofibrillar, 3; limb-girdle muscular dystrophy type 1A | AD |
NAGA | 104170 | Schindler disease, type I, III | AR |
NAGLU | 609701 | mucopolysaccharidosis type IIIB; ? axonal Charcot-Marie-Tooth disease type 2V | AD, AR |
NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
NARS2 | 612803 | Combined oxidative phosphorylation deficiency 24 | AR |
NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly; Infantile liver failure syndrome type 2 | AR |
NDUFA1 | 300078 | XLR | |
NDUFA10 | 603835 | AR | |
NDUFA11 | 612638 | AR | |
NDUFA12 | 614530 | Mitochondrial complex I deficiency nuclear type 23 | AR |
NDUFA2 | 602137 | AR | |
NDUFA9 | 603834 | AR | |
NDUFAF1 | 606934 | AR | |
NDUFAF2 | 609653 | Mitochondrial complex I deficiency nuclear type 10 | AR |
NDUFAF4 | 611776 | AR | |
NDUFAF5 | 612360 | AR | |
NDUFAF6 | 612392 | AR | |
NDUFS1 | 157655 | AR | |
NDUFS2 | 602985 | AR | |
NDUFS3 | 603846 | AR | |
NDUFS4 | 602694 | mitochondrial complex I deficiency | AR |
NDUFS6 | 603848 | AR | |
NDUFS7 | 601825 | Mitochondrial complex I deficiency, nuclear type 3 | AR |
NDUFS8 | 602141 | AR | |
NDUFV1 | 161015 | AR | |
NDUFV2 | 600532 | AR | |
NECAP1 | 611623 | early infantile epileptic encephalopathy 21 | AR |
NEDD4L | 606384 | Periventricular nodular heterotopia 7 | AD |
NEU1 | 608272 | neuraminidase deficiency | AR |
NFU1 | 608100 | Multiple mitochondrial dysfunctions syndrome 1 | AR |
NGLY1 | 610661 | Congenital disorder of deglycosylation | AR |
NHLRC1 | 608072 | Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora) | AR |
NOTCH3 | 600276 | CADASIL; Lateral meningocele syndrome | AD |
NPC1 | 607623 | Niemann-Pick disease type C/D | AR |
NPC2 | 601015 | Niemann-Pick disease type C2 | AR |
NRXN1 | 600565 | Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome | AR |
NUBPL | 613621 | AR | |
OAT | 613349 | Gyrate atrophy of choroid and retina with or without ornithinemia | AR |
OCLN | 602876 | Band-like calcification with simplified gyration and polymicrogyria | AR |
OCRL | 300535 | Dent disease type 2; Lowe oculocerebrorenal syndrome | XLR |
OPA1 | 605290 | Optic atrophy plus syndrome; optic atrophy type 1; Behr syndrome; Glaucoma, normal tension, susceptibility to; Mitochondrial DNA depletion syndrome 14 | AD, AR |
OPA3 | 606580 | Optic atrophy type 3 with cataract; 3-methylglutaconic aciduria type III | AD, AR |
OTC | 300461 | ornithine transcarbamylase deficiency | XLR |
PAH | 612349 | phenylketonuria | AR |
PANK2 | 606157 | neurodegeneration with brain iron accumulation type 1; HARP syndrome | AR |
PC | 608786 | pyruvate carboxylase deficiency | AR |
PCCA | 232000 | propionic acidemia | AR |
PCCB | 232050 | propionic acidemia | AR |
PCDH19 | 300460 | early infantile epileptic encephalopathy type 9 | XL |
PDHA1 | 300502 | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | |
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 |
PET100 | 614770 | Mitochondrial complex IV deficiency | AR, M |
PEX1 | 602136 | Peroxisome biogenesis disorder type 1A (Zellweger); Heimler syndrome type 1; peroxisome biogenesis disorder type 1B | AR |
PEX10 | 602859 | peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B | AR |
PEX11B | 603867 | peroxisome biogenesis disorder 14B (Zellweger) | AR |
PEX12 | 601758 | peroxisome biogenesis disorder type 3B; peroxisome biogenesis disorder type 3A (Zellweger) | AR |
PEX13 | 601789 | peroxisome biogenesis disorder 11A (Zellweger); peroxisome biogenesis disorder 11B | AR |
PEX14 | 601791 | peroxisome biogenesis disorder 13A (Zellweger) | AR |
PEX16 | 603360 | peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B | AR |
PEX19 | 600279 | peroxisome biogenesis disorder 12A (Zellweger) | AR |
PEX2 | 170993 | peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B | AR |
PEX26 | 608666 | peroxisome biogenesis disorder type 7A (Zellweger); peroxisome biogenesis disorder 7B | AR |
PEX3 | 603164 | peroxisome biogenesis disorder 10A (Zellweger) | AR |
PEX5 | 600414 | peroxisome biogenesis disorder 2B (Zellweger); peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata, type 5 | AR |
PEX6 | 601498 | peroxisome biogenesis disorder type 4A (Zellweger); peroxisome biogenesis disorder type 4B; Heimler syndrome type 2 | AD, AR |
PEX7 | 601757 | Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) | AR |
PGK1 | 311800 | Phosphoglycerate kinase 1 deficiency | XLR |
PGM1 | 171900 | congenital disorder of glycosylation type 1t | AR |
PHYH | 602026 | Refsum disease | AR |
PIGA | 311770 | Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2 | XLR |
PIGO | 614730 | Hyperphosphatasia with mental retardation syndrome 2 | AR |
PIGV | 610274 | Hyperphosphatasia with mental retardation syndrome type 1 | AR |
PLA2G6 | 603604 | infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 | AR |
PLCB1 | 607120 | early infantile epileptic encephalopathy 12 | AR |
PLCG2 | 600220 | Familial cold autoinflammatory syndrome 3 | AD |
PLP1 | 300401 | Pelizaeus-Merzbacher disease; spastic paraplegia 2 | XLR |
PMM2 | 601785 | congenital disorder of glycosylation type 1a | AR |
PNKP | 605610 | type 2B2 Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 10 | AR |
PNPO | 603287 | Pyridoxamine 5'-phosphate oxidase deficiency | AR |
PNPT1 | 610316 | Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70 | AR |
POLG | 174763 | progressive external ophthalmoplegia; mitochondrial DNA depletion syndrome type 4A; autosomal recessive progressive external ophthalmoplegia; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; mitochondrial DNA depletion syndrome type 4B | AD, AR |
POLG2 | 604983 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | AD, AR |
POLR3A | 614258 | hypomyelinating leukodystrophy-7 | AR |
POLR3B | 614366 | hypomyelinating leukodystrophy-8 | AR |
PPT1 | 600722 | neuronal ceroid lipofuscinosis type 1 | AR |
PRICKLE1 | 608500 | Epilepsy, progressive myoclonic 1B | AR |
PRODH | 606810 | Hyperprolinemia, type I; susceptibility to Schizophrenia, 4 | AD, AR |
PRRT2 | 614386 | Episodic kinesigenic dyskinesia 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2 | AD |
PSAP | 176801 | metachromatic leukodystrophy due to SAP-b deficiency; atypical Gaucher disease; Combined SAP deficiency; atypical Krabbe disease | AR |
PSEN1 | 104311 | Pick disease; Dementia, frontotemporal; early-onset familial Alzheimer disease-3; dilated cardiomyopathy-1U; Acne inversa, familial, 3 | AD |
PTS | 612719 | Hyperphenylalaninemia, BH4-deficient, A | AR |
PURA | 600473 | mental retardation- 31 | AD |
PYCR2 | 616406 | hypomyelinating leukodystrophy-10 | AR |
QARS1 | 603727 | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy | AR |
QDPR | 612676 | Hyperphenylalaninemia, BH4-deficient, C | AR |
RAB27A | 603868 | Griscelli syndrome, type 2 | AR |
RAI1 | 607642 | Smith-Magenis syndrome | AD |
RARS1 | 107820 | hypomyelinating leukodystrophy-9 | AR |
RARS2 | 611524 | pontocerebellar hypoplasia type 6 | AR |
RBFOX1 | 605104 | ||
RELN | 600514 | lissencephaly 2; familial temporal lobe epilepsy, 7 | AD, AR |
RFT1 | 611908 | congenital disorder of glycosylation type 1n | AR |
RNASEH2A | 606034 | Aicardi-Goutieres syndrome type 4 | AR |
RNASEH2B | 610326 | Aicardi-Goutieres syndrome type 2 | AR |
RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
RNASET2 | 612944 | Leukoencephalopathy, cystic, without megalencephaly | AR |
ROGDI | 614574 | Kohlschutter-Tonz syndrome | AR |
RPIA | 180430 | AR | |
RRM2B | 604712 | mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | AD, AR |
SAMHD1 | 606754 | Aicardi-Goutieres syndrome type 5; Chilblain lupus type 2 | AD, AR |
SCARB2 | 602257 | Epilepsy, progressive myoclonic 4, with or without renal failure | AR |
SCN1A | 182389 | generalized epilepsy with febrile seizures plus 2; early infantile epileptic encephalopathy 6; familial hemiplegic migraine-3 | AD |
SCN1B | 600235 | generalized epilepsy with febrile seizures plus-1; Brugada syndrome 5; Epileptic encephalopathy, early infantile, 52 | AD, AR |
SCN2A | 182390 | benign familial neonatal-infantile seizures type 3; early infantile epileptic encephalopathy 11 | AD |
SCN3A | 182391 | Epilepsy, familial focal, with variable foci 4; early infantile epileptic encephalopathy type 62 | AD |
SCN8A | 600702 | Cognitive impairment with or without cerebellar ataxia; early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 | AD |
SCN9A | 603415 | primary erythermalgia; Paroxysmal extreme pain disorder; INDIFFERENCE TO PAIN, CONGENITAL; generalized epilepsy with febrile seizures plus 7 | AD, AR |
SCO1 | 603644 | Mitochondrial complex IV deficiency | AR, M |
SCO2 | 604272 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6 | AD, AR |
SDHA | 600857 | mitochondrial complex II deficiency; Leigh syndrome; dilated cardiomyopathy-1GG; paragangliomas type 5 | AD, AR, M |
SDHAF1 | 612848 | mitochondrial complex II deficiency | AR |
SDHB | 185470 | paragangliomas type 4; pheochromocytoma; gastrointestinal stromal tumor; paraganglioma and gastric stromal sarcoma | AD |
SDHD | 602690 | paragangliomas 1; pheochromocytoma; mitochondrial complex II deficiency; paraganglioma and gastric stromal sarcoma | AD, AR |
SEC23B | 610512 | congenital dyserythropoietic anemia 2; Cowden syndrome 7 | AD, AR |
SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL syndrome). | AR |
SERPINI1 | 602445 | Encephalopathy, familial, with neuroserpin inclusion bodies | AD |
SGCE | 604149 | myoclonus-dystonia | AD |
SGSH | 605270 | mucopolysaccharidosis type IIIA | AR |
SIK1 | 605705 | Epileptic encephalopathy, early infantile, 30 | AD |
SLC12A3 | 600968 | Gitelman syndrome | AR |
SLC12A5 | 606726 | early infantile epileptic encephalopathy type 34; susceptibility to idiopathic generalized epilepsy-14 | AD, AR |
SLC13A5 | 608305 | early infantile epileptic encephalopathy 25 | AR |
SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
SLC17A5 | 604322 | infantile sialic acid storage disorder; Salla disease | AR |
SLC19A3 | 606152 | biotin-thiamine-responsive basal ganglia disease | AR |
SLC1A2 | 600300 | early infantile epileptic encephalopathy type 41 | AD |
SLC22A5 | 603377 | systemic primary carnitine deficiency | AR |
SLC25A1 | 190315 | Combined D-2- and L-2-hydroxyglutaric aciduria | AR |
SLC25A12 | 603667 | Epileptic encephalopathy, early infantile, 39 | AR |
SLC25A13 | 603859 | Citrullinemia, Type Ii, Adult-Onset; Citrullinemia, type II, neonatal-onset | AR |
SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
SLC25A20 | 613698 | Carnitine-acylcarnitine translocase deficiency | AR |
SLC25A22 | 609302 | early infantile epileptic encephalopathy 3 | AR |
SLC25A3 | 600370 | ||
SLC25A4 | 103220 | Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 2; mitochondrial DNA depletion syndrome 12; mitochondrial DNA depletion syndrome type 12A | AD, AR |
SLC2A1 | 138140 | Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12 | AD, AR |
SLC35A1 | 605634 | Congenital disorder of glycosylation, type IIf | AR |
SLC35A2 | 314375 | congenital disorder of glycosylation type 2m | XLD |
SLC35C1 | 605881 | Congenital disorder of glycosylation, type IIc | AR |
SLC6A1 | 137165 | Myoclonic-atonic epilepsy | AD |
SLC6A8 | 300036 | Cerebral creatine deficiency syndrome type 1 | XLR |
SLC7A7 | 603593 | Lysinuric protein intolerance | AR |
SLC9A6 | 300231 | Christianson type of X-linked syndromic mental retardation | XLD |
SMC1A | 300040 | Cornelia de Lange syndrome 2 | XLD |
SMPD1 | 607608 | Niemann-Pick disease type A; Niemann-Pick disease type A/B | AR |
SNTA1 | 601017 | long QT syndrome 12 | AD |
SOX10 | 602229 | PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome, type 4C | AD |
SPART | 607111 | spastic paraplegia 20 | AR |
SPG11 | 610844 | Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X | AR |
SPG7 | 602783 | spastic paraplegia 7 | AD, AR |
SPTAN1 | 182810 | Epileptic encephalopathy, early infantile, 5 | AD |
SRD5A3 | 611715 | congenital disorder of glycosylation type 1q; Kahrizi syndrome | AR |
SSR4 | 300090 | congenital disorder of glycosylation type 1y | XLR |
ST3GAL3 | 606494 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; early infantile epileptic encephalopathy, 15 | AR |
ST3GAL5 | 604402 | Salt and pepper developmental regression syndrome | AR |
STAT1 | 600555 | Autosomal recessive Immunodeficiency 31B, mycobacterial and viral infections; Immunodeficiency 31C, autosomal dominant | AD, AR |
STT3A | 601134 | congenital disorder of glycosylation type 1w | AR |
STT3B | 608605 | Congenital disorder of glycosylation, type Ix | AR |
STX1B | 601485 | generalized epilepsy with febrile seizures plus-9 | AD |
STXBP1 | 602926 | early infantile epileptic encephalopathy 4 | AD |
SUCLA2 | 603921 | mitochondrial DNA depletion syndrome 5 | AR |
SUCLG1 | 611224 | mitochondrial DNA depletion syndrome 9 | AR |
SUMF1 | 607939 | multiple sulfatase deficiency | AR |
SUOX | 606887 | Sulfite oxidase deficiency | AR |
SURF1 | 185620 | Leigh syndrome | AR, M |
SYN1 | 313440 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | XLD, XLR |
SYNE1 | 608441 | autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 | AD, AR |
SYNGAP1 | 603384 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | AD |
SYNJ1 | 604297 | Parkinson disease 20, early-onset; early infantile epileptic encephalopathy type 53 | AR |
SZT2 | 615463 | Epileptic encephalopathy, early infantile, 18 | AR |
TACO1 | 612958 | Mitochondrial complex IV deficiency | AR, M |
TBC1D24 | 613577 | DOOR syndrome; Myoclonic epilepsy, infantile, familial; Rolandic epilepsy with proxysmal exercise-induced dystonia and writer's cramp; deafness type 86; Epileptic encephalopathy, early infantile, 16; deafness type 65 | AD, AR |
TBCE | 604934 | Hypoparathyroidism-retardation-dysmorphism syndrome(SANJAD-SAKATI SYNDROME) | AR |
TCF4 | 602272 | Pitt-Hopkins syndrome | AD |
TGFB1 | 190180 | Camurati-Engelmann disease; cystic fibrosis | AD, AR |
TIMM8A | 300356 | Mohr-Tranebjaerg syndrome | XLR |
TINF2 | 604319 | Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 | AD |
TK2 | 188250 | mitochondrial DNA depletion syndrome 2 | AR |
TMEM126A | 612988 | Optic Atrophy 7 | AR |
TMEM165 | 614726 | Congenital disorder of glycosylation, type IIk | 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 | neuronal ceroid lipofuscinosis type 2; autosomal recessive spinocerebellar ataxia type 7 | AR |
TREM2 | 605086 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 2 | AD |
TREX1 | 606609 | systemic lupus erythematosus; retinal vasculopathy with cerebral leukodystrophy; Aicardi-Goutieres syndrome type 1; chilblain lupus type 1 | AD, AR |
TRPM6 | 607009 | Hypomagnesemia 1, intestinal | AR |
TRPV4 | 605427 | Brachyolmia type 3; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type; Hereditary motor and sensory neuropathy, type IIc | AD |
TSC1 | 605284 | tuberous sclerosis type 1 | AD |
TSC2 | 191092 | tuberous sclerosis-2 | AD |
TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
TTC19 | 613814 | nuclear mitochondrial complex III deficiency type 2 | AR |
TUBB4A | 602662 | dystonia 4; hypomyelinating leukodystrophy-6 | AD |
TUFM | 602389 | Combined oxidative phosphorylation deficiency 4 | AR |
TUSC3 | 601385 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 | AR |
TWNK | 606075 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3 | AD, AR |
TYMP | 131222 | mitochondrial DNA depletion syndrome 1 | AR |
TYROBP | 604142 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 1 | AR |
UBE3A | 601623 | Angelman syndrome | AD |
UMPS | 613891 | Orotic aciduria | AR |
UQCRQ | 612080 | Mitochondrial complex III deficiency, nuclear type 4 | AR |
WDR45 | 300526 | neurodegeneration with brain iron accumulation 5 | XLD |
WFS1 | 606201 | congenital nuclear cataract type 41; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome | AD, AR |
WWOX | 605131 | Esophageal cancer, somatic; autosomal recessive spinocerebellar ataxia 12; early infantile epileptic encephalopathy 28 | AR |
ZEB2 | 605802 | Mowat-Wilson syndrome | AD |
ZFYVE26 | 612012 | spastic paraplegia type 15 | AR |
Common syndromes and disorders covered
Aicardi-Goutieres syndrome
Brain iron accumulation syndromes
Congenital glycosylation disease
Dravet syndrome
Early infantile epileptic encephalopathy
Epilepsy
Epilepsy (absence) in childhood
Epilepsy (generalized) with febrile seizures
Epilepsy (partial)
Epileptic encephalopathy
Hypomagnesemia
Leigh syndrome
Leukodystrophy and peroxisome biogenesis disorders
Lysosomal storage disease
Mitochondrial DNA depletion
Mitochondrial encephalomyopathy
Myoclonic epilepsy
Urea cycle disorder
Intellectual disability panel
Our panel includes genes associated with intellectual disabilities covering all mechanisms of inheritance as well as syndromic and non-syndromic autism, microcephaly, neuronal migration disorders, developmental regression, and Aicardi Goutierres. Detection of Fragile X syndrome is possible as our panel includes repeat expansion of FMR1.
No. of genes: | 599 |
TAT: | 25 days |
Coverage: | ≥99.5% ≥20x |
Details: | CNV analysis included Repeat expansion analysis: FMR1 |
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
ABAT | 137150 | GABA-transaminase deficiency | AR |
ABCD1 | 300371 | adrenoleukodystrophy | XLR |
ACE | 106180 | Renal tubular dysgenesis; Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to | AR |
ACSL4 | 300157 | mental retardation 63 | XLD |
ACTB | 102630 | Baraitser-Winter syndrome 1; Dystonia, juvenile-onset | AD |
ACTG1 | 102560 | Deafness, Autosomal Dominant 20; Baraitser-Winter syndrome 2 | AD |
ACTN4 | 604638 | Glomerulosclerosis, focal segmental, 1 | AD |
ADA | 608958 | Adenosine deaminase deficiency | AR |
ADAR | 146920 | Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome type 6 | AD, AR |
ADCY5 | 600293 | Dyskinesia, familial, with facial myokymia | AD |
ADGRG1 | 604110 | bilateral frontoparietal polymicrogyria; bilateral perisylvian polymicrogyria | AR |
ADK | 102750 | Hypermethioninemia due to adenosine kinase deficiency | AR |
ADNP | 611386 | Helsmoortel-van der Aa syndrome | AD |
ADSL | 608222 | Adenylosuccinase deficiency | AR |
AFF2 | 300806 | Mental Retardation, X-Linked, Associated With Fragile Site Fraxe | XLR |
AHI1 | 608894 | Joubert syndrome 3 | AR |
AIMP1 | 603605 | hypomyelinating leukodystrophy-3 | AR |
AKAP9 | 604001 | long QT syndrome 11 | AD |
AKT3 | 611223 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | AD |
ALDH18A1 | 138250 | Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 | AD, AR |
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
ALDH7A1 | 107323 | pyridoxine-dependent epilepsy | AR |
ALG11 | 613666 | congenital disorder of glycosylation type 1p | AR |
ALG13 | 300776 | congenital disorder of glycosylation type 1s | XLD |
ALX4 | 605420 | Parietal foramina 2; Frontonasal dysplasia 2 | AD, AR |
AMPD1 | 102770 | Myopathy due to myoadenylate deaminase deficiency | AR |
AMPD2 | 102771 | pontocerebellar hypoplasia 9 | AR |
AMT | 238310 | glycine encephalopathy | AR |
ANK2 | 106410 | long QT syndrome-4 | AD |
ANK3 | 600465 | autosomal recessive mental retardation type 37 | AR |
ANKRD11 | 611192 | KBG syndrome | AD |
AP1S1 | 603531 | MEDNIK syndrome | AR |
AP1S2 | 300629 | Pettigrew syndrome | XLR |
AP3B1 | 603401 | Hermansky-Pudlak syndrome type 2 | AR |
AP4B1 | 607245 | spastic paraplegia 47 | AR |
AP4M1 | 602296 | autosomal recessive spastic paraplegia type 50 | AR |
ARFGEF2 | 605371 | Periventricular heterotopia with microcephaly | AR |
ARHGEF10 | 608136 | slowed nerve conduction velocity | AD |
ARHGEF6 | 300267 | ||
ARHGEF9 | 300429 | Epileptic encephalopathy, early infantile, 8 | XLR |
ARID1A | 603024 | Coffin-Siris syndrome type 2 | AD |
ARID1B | 614556 | Coffin-Siris syndrome 1 | AD |
ARL13B | 608922 | Joubert syndrome 8 | AR |
ARX | 300382 | Proud syndrome; X-linked lissencephaly-2; ARX- related mental retardation; early infantile epileptic encephalopathy 1; Partington X-Linked Mental Retardation Syndrome | XL, XLR |
ASAH1 | 613468 | Spinal muscular atrophy with progressive myoclonic epilepsy; Farber lipogranulomatosis | AR |
ASCL1 | 100790 | congenital central hypoventilation syndrome | AD |
ASPM | 605481 | primary microcephaly 5 | AR |
ASXL1 | 612990 | Bohring-Opitz syndrome; Myelodysplastic syndrome, somatic | AD |
ASXL3 | 615115 | Bainbridge-Ropers syndrome | AD |
ATP13A2 | 610513 | Kufor-Rakeb syndrome; spastic paraplegia type 78 | AR |
ATP1A3 | 182350 | Dystonia 12; Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; Alternating hemiplegia of childhood 2 | AD |
ATP6AP2 | 300556 | syndromic mental retardation, Hedera type | XLR |
ATP6V0A2 | 611716 | autosomal recessive cutis laxa type IIA; Wrinkly skin syndrome | AR |
ATP7A | 300011 | X-linked distal spinal muscular atrophy type 3; Occipital horn syndrome; Menkes disease | XLR |
ATP8A2 | 605870 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | AR |
ATR | 601215 | Seckel syndrome 1; ?Cutaneous telangiectasia and cancer syndrome, familial | AD, AR |
ATRX | 300032 | Alpha-Thalassemia Myelodysplasia Syndrome; Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked; Mental retardation-hypotonic facies syndrome, X-linked | XLD, XLR |
AUTS2 | 607270 | mental retardation- 26 | AD |
B3GALNT2 | 610194 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11 | AR |
B4GAT1 | 605517 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A13 | AR |
B9D1 | 614144 | Meckel Syndrome, Type 9 | AR |
B9D2 | 611951 | Meckel syndrome 10 | AR |
BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
BCAP31 | 300398 | Deafness, dystonia, and cerebral hypomyelination; ddch contiguous abcd1/dxs1375e deletion syndrome, included; cadds, included | XLR |
BCKDK | 614901 | BCKDK deficiency | |
BCOR | 300485 | Microphthalmia, syndromic 2 | XLD |
BCS1L | 603647 | Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome | AR, M |
BDNF | 113505 | ||
BLOC1S3 | 609762 | Hermansky-Pudlak syndrome 8 | AR |
BLOC1S6 | 604310 | Hermansky-pudlak syndrome 9 | AR |
BRAF | 164757 | Cardiofaciocutaneous Syndrome 1; Lung Cancer; Noonan syndrome 7; LEOPARD syndrome 3 | AD |
BRCA2 | 600185 | familial breast-ovarian cancer type 2; Medulloblastoma; Prostate Cancer; Wilms tumor, type 1; Fanconi anemia complementation group D1; pancreatic cancer type 2 | AD, AR |
BRWD3 | 300553 | mental retardation 93 | XLR |
C12orf57 | 615140 | Temtamy syndrome | AR |
C12orf65 | 613541 | Combined oxidative phosphorylation deficiency 7 | AR |
C19orf12 | 614297 | neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 | AD, AR |
CA2 | 611492 | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis | AR |
CA8 | 114815 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 | AR |
CACNA1A | 601011 | episodic ataxia type 2; familial hemiplegic migraine 1; spinocerebellar ataxia 6; early infantile epileptic encephalopathy, 42 | AD |
CACNA1C | 114205 | Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8 | AD |
CACNA1D | 114206 | Sinoatrial node dysfunction and deafness; Primary aldosteronism, seizures, and neurologic abnormalities | AD, AR |
CACNA1F | 300110 | Night blindness, congenital stationary (incomplete), 2A, X-linked; Cone-rod dystropy, X-linked, 3; Aland Island eye disease | XL, XLR |
CACNA1H | 607904 | childhood absence epilepsy type 6 | AD |
CACNB2 | 600003 | Brugada syndrome 4 | |
CAMTA1 | 611501 | Cerebellar ataxia, nonprogressive, with mental retardation | AD |
CARD11 | 607210 | Immunodeficiency 11B with atopic dermatitis | AD, AR |
CASK | 300172 | Fg Syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia | XLD |
CBS | 613381 | homocystinuria with or without response to pyridoxine | AR |
CC2D1A | 610055 | mental retardation 3 | AR |
CC2D2A | 612013 | COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 | AR |
CCDC40 | 613799 | Ciliary dyskinesia, primary, 15 | |
CCDC88C | 611204 | Hydrocephalus, nonsyndromic, autosomal recessive 1; spinocerebellar ataxia type 40 | AD, AR |
CDH15 | 114019 | autosomal dominant mental retardation, 3 | |
CDK5RAP2 | 608201 | primary microcephaly 3 | AR |
CDKL5 | 300203 | early infantile epileptic encephalopathy 2 | XLD |
CDON | 608707 | Holoprosencephaly 11 | AD |
CENPF | 600236 | Stromme syndrome | AR |
CENPJ | 609279 | primary microcephaly 6; Seckel syndrome 4 | AR |
CEP135 | 611423 | primary microcephaly 8 | AR |
CEP152 | 613529 | Seckel syndrome 5; primary microcephaly 9 | AR |
CEP290 | 610142 | Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14 | AR |
CEP41 | 610523 | Joubert syndrome 15 | AR |
CEP63 | 614724 | Seckel syndrome 6 | AR |
CHD2 | 602119 | childhood-onset epileptic encephalopathy | AD |
CHD7 | 608892 | CHARGE syndrome; hypogonadotropic hypogonadism-5 with or without anosmia | AD |
CHD8 | 610528 | Autism, susceptibility to, 18 | AD |
CHMP1A | 164010 | pontocerebellar hypoplasia 8 | AR |
CHRM3 | 118494 | Prune belly syndrome | AR |
CIB2 | 605564 | deafness type 48; Usher syndrome type 1J | AR |
CLCN4 | 302910 | MENTAL RETARDATION, X-LINKED 49 | XLD |
CLIC2 | 300138 | mental retardation 32 | XLR |
CLN8 | 607837 | neuronal ceroid lipofuscinosis type 8; neuronal ceroid lipofuscinosistype 8, Northern epilepsy variant | AR |
CNGB3 | 605080 | Achromatopsia type 3 | AR |
CNTNAP2 | 604569 | Pitt-Hopkins like syndrome 1; Autism susceptibility 15 | AR |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12 | AR |
COL4A1 | 120130 | porencephaly 1; Brain small vessel disease with or without ocular anomalies; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Hemorrhage, intracerebral, susceptibility to | AD |
CPLANE1 | 614571 | oral-facial-digital syndrome 6; Joubert syndrome 17 | AR |
CPT2 | 600650 | stress-induced myopathic CPT II deficiency; infantile CPT deficiency; lethal neonatal CPT II deficiency; susceptibility to infection-induced acute encephalopathy type 4 | AD, AR |
CRADD | 603454 | Mental retardation, autosomal recessive 34, with variant lissencephaly | AR |
CRBN | 609262 | mental retardation 2 | AR |
CREBBP | 600140 | Rubinstein-Taybi syndrome 1 | AD |
CRIPT | 604594 | Short stature with microcephaly and distinctive facies | AR |
CRPPA | 614631 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C7 | AR |
CSPP1 | 611654 | Joubert syndrome 21 | AR |
CTC1 | 613129 | Cerebroretinal microangiopathy with calcifications and cysts | AR |
CTNNA3 | 607667 | familial arrhythmogenic right ventricular dysplasia type 13 | AD |
CTNNB1 | 116806 | colorectal cancer; Hepatocellular Carcinoma; Medulloblastoma; Ovarian Cancer; neurodevelopmental disorder with spastic diplegia and visual defects | AD |
CUL3 | 603136 | Pseudohypoaldosteronism, type IIE | AD |
CUL4B | 300304 | MENTAL RETARDATION, X-LINKED 15 | XLR |
CUL7 | 609577 | 3-M syndrome | AR |
CYB5R3 | 613213 | methemoglobinemia type I | AR |
CYP11B1 | 610613 | Glucocorticoid-Remediable Aldosteronism; Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency | AD, AR |
CYP27A1 | 606530 | cerebrotendinous xanthomatosis | AR |
DARS2 | 610956 | leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
DCAF17 | 612515 | Woodhouse-Sakati syndrome | AR |
DCX | 300121 | type 1 lissencephaly | XL |
DDC | 107930 | Aromatic L-amino acid decarboxylase deficiency | AR |
DDX3X | 300160 | mental retardation 102 | XLD, XLR |
DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
DKC1 | 300126 | X-linked dyskeratosis congenita | XLR |
DLG3 | 300189 | mental retardation 90 | XLR |
DNM1 | 602377 | early infantile epileptic encephalopathy, 31 | AD |
DOCK8 | 611432 | Hyper-IgE recurrent infection syndrome, autosomal recessive | AR |
DPYD | 612779 | Dihydropyrimidine dehydrogenase deficiency | AR |
DRD3 | 126451 | schizophrenia | AD |
DST | 113810 | Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 | AR |
DTNBP1 | 607145 | Hermansky-Pudlak syndrome 7 | AR |
DYM | 607461 | Dyggve-Melchior-Clausen disease | AR |
DYNC1H1 | 600112 | lower extremity-predominant spinal muscular atrophy type 1; type 2O Charcot-Marie-Tooth disease; mental retardation-13 | AD |
DYRK1A | 600855 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 | AD |
EDN3 | 131242 | congenital central hypoventilation syndrome; Waardenburg syndrome type 4B; Hirschsprung disease 4 | AD, AR |
EDNRB | 131244 | Waardenburg syndrome type 4A; Hirschsprung disease, susceptibility to, 2; ABCD syndrome | AD, AR |
EEF1A2 | 602959 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; early infantile epileptic encephalopathy type 33 | AD |
EFTUD2 | 603892 | Mandibulofacial dysostosis, Guion-Almeida type | AD |
EHMT1 | 607001 | Kleefstra syndrome | AD |
EIF2B1 | 606686 | leukoencephaly with vanishing white matter | AR |
EIF2B2 | 606454 | leukoencephaly with vanishing white matter | AR |
EIF2B3 | 606273 | leukoencephaly with vanishing white matter | AR |
EIF2B4 | 606687 | leukoencephaly with vanishing white matter | AR |
EIF2B5 | 603945 | leukoencephaly with vanishing white matter | AR |
EIF4E | 133440 | ||
ELOVL4 | 605512 | Spinocerebellar ataxia 34; Stargardt disease 3; Ichthyosis, spastic quadriplegia, and mental retardation | AD, AR |
EMX2 | 600035 | Schizencephaly | |
EP300 | 602700 | colorectal cancer; Rubinstein-Taybi syndrome 2 | AD |
EPB41L1 | 602879 | mental retardation-11 | AD |
ESRRB | 602167 | deafness type 35 | AR |
ETFB | 130410 | multiple acyl-CoA dehydrogenase deficiency | AR |
EXOSC3 | 606489 | pontocerebellar hypoplasia type 1B | AR |
FAM126A | 610531 | hypomyelinating leukodystrophy-5 | AR |
FANCB | 300515 | Fanconi anemia of complementation group B | XLR |
FBN1 | 134797 | Marfan syndrome; stiff skin syndrome; Weill-Marchesani syndrome 2; geleophysic dysplasia 2; Marfan lipodystrophy syndrome | AD |
FGA | 134820 | Amyloidosis, familial visceral; Afibrinogenemia, congenital; Dysfibrinogenemia, congenital | AD, AR |
FGD1 | 300546 | Aarskog-Scott syndrome | XLR |
FGFR2 | 176943 | Apert syndrome; Saethre-Chotzen Syndrome; Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; Crouzon syndrome; Beare-Stevenson cutis gyrata syndrome; Lacrimoauriculodentodigital Syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Scaphocephaly, maxillary retrusion, and mental retardation; Gastric Cancer; Bent bone dysplasia syndrome | AD |
FGFR3 | 134934 | Achondroplasia; Bladder Cancer; colorectal cancer; Hypochondroplasia; Lacrimoauriculodentodigital Syndrome; Nevus, Epidermal; Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II; Spermatocytic seminoma, somatic; Muenke syndrome; Cervical cancer, somatic; CATSHL syndrome; Crouzon syndrome with acanthosis nigricans | AD, AR |
FH | 136850 | Leiomyomatosis and renal cell cancer; Fumarase deficiency | AD, AR |
FKRP | 606596 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B5; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C5; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | AR |
FKTN | 607440 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A4; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C4; dilated cardiomyopathy type 1X; congenital muscular dystrophy-dystroglycanopathy without mental retardation type B4 | AR |
FLNA | 300017 | Congenital short bowel syndrome; Heterotopia, periventricular / X-linked periventricular heterotopia; Terminal osseous dysplasia; FG syndrome 2; Otopalatodigital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needles syndrome; otopalatodigital syndrome type I; Cardiac valvular dysplasia, X-linked | XL, XLD, XLR |
FLVCR1 | 609144 | Ataxia, posterior column, with retinitis pigmentosa | AR |
FMR1 | 309550 | fragile X tremor/ataxia syndrome; fragile X mental retardation syndrome; premature ovarian failure type 1 | XL, XLD |
FOLR1 | 136430 | cerebral folate transport deficiency | AR |
FOXC1 | 601090 | Iridogoniodysgenesis, type 1; Axenfeld-Rieger syndrome, type 3 | AD |
FOXG1 | 164874 | Rett syndrome, congenital variant | AD |
FOXL2 | 605597 | Blepharophimosis, epicanthus inversus, and ptosis | AD, AR |
FOXP1 | 605515 | Mental retardation with language impairment and with or without autistic features | AD |
FOXP2 | 605317 | Speech-Language Disorder 1 | AD |
FTL | 134790 | Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 | AD, AR |
FTO | 610966 | Growth retardation, developmental delay, facial dysmorphism | AR |
FTSJ1 | 300499 | MENTAL RETARDATION, X-LINKED 9 | XLR |
G6PD | 305900 | glucose-6-phosphate dehydrogenase deficiency; resistance to malaria | XLD |
GABRB3 | 137192 | Epilepsy, Childhood Absence, Susceptibility To, 5 | AD |
GAD1 | 605363 | Cerebral palsy, spastic quadriplegic, 1 | AR |
GAMT | 601240 | guanidinoacetate methyltransferase deficiency | AR |
GATM | 602360 | Cerebral creatine deficiency syndrome 3 | AD, AR |
GCK | 138079 | MODY type 2; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Hyperinsulinemic hypoglycemia, familial, 3; permanent neonatal diabetes mellitus | AD, AR |
GDI1 | 300104 | mental retardation 41 | XLD |
GDNF | 600837 | pheochromocytoma; congenital central hypoventilation syndrome; Hirschsprung Disease, Susceptibility To, 3 | AD |
GFAP | 137780 | Alexander disease | AD |
GIGYF2 | 612003 | PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | |
GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2; spastic paraplegia 44 | AD, AR |
GK | 300474 | Glycerol kinase deficiency | XLR |
GLI2 | 165230 | holoprosencephaly 9; Culler-Jones syndrome | AD |
GLRB | 138492 | Hyperekplexia 2, autosomal recessive | AR |
GMPPA | 615495 | Alacrima, achalasia, and mental retardation syndrome | AR |
GMPPB | 615320 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | AR |
GNAO1 | 139311 | early infantile epileptic encephalopathy 17; neurodevelopmental disorder with involuntary movements | AD |
GNAS | 139320 | Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism | AD |
GPC3 | 300037 | Wilms tumor, type 1; Simpson-Golabi-Behmel syndrome, type 1 | XLR |
GPHN | 603930 | Molybdenum cofactor deficiency, complementation group c | AR |
GPT2 | 138210 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 | AR |
GPX1 | 138320 | Hemolytic anemia due to glutathione peroxidase deficiency | AR |
GRIA3 | 305915 | syndromic mental retardation, Wu type | XLR |
GRID2 | 602368 | autosomal recessive spinocerebellar ataxia 18 | AR |
GRIK2 | 138244 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 | AR |
GRIN1 | 138249 | mental retardation- 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures | AD, AR |
GRIN2A | 138253 | Epilepsy, focal, with speech disorder and with or without mental retardation | AD |
GRIN2B | 138252 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; early infantile epileptic encephalopathy 27 | AD |
GRIP1 | 604597 | AR | |
HBB | 141900 | Heinz Body Anemias; Delta-beta thalassemia; dominantly inherited inclusion body beta-thalassemia; sickle cell anemia; resistance to malaria; beta-thalassemia | AD, AR |
HCCS | 300056 | Microphthalmia, syndromic 7 | XLD |
HCFC1 | 300019 | mental retardation 3 | XLR |
HCN1 | 602780 | early infantile epileptic encephalopathy 24 | AD |
HDAC4 | 605314 | ||
HDAC8 | 300269 | Cornelia de Lange syndrome 5 | XLD |
HEPACAM | 611642 | megalencephalic leukoencephalopathy with subcortical cysts type 2A; megalencephalic leukoencephalopathy with subcortical cysts type 2B, remitting, with or without mental retardation | AD, AR |
HERC2 | 605837 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 | AR |
HNRNPU | 602869 | Epileptic encephalopathy, early infantile, 54 | AD |
HOXA1 | 142955 | Bosley-Salih-Alorainy syndrome | |
HPRT1 | 308000 | Lesch-Nyhan syndrome; Kelley-Seegmiller syndrome | XLR |
HPS1 | 604982 | Hermansky-Pudlak syndrome type 1 | AR |
HPS4 | 606682 | Hermansky-Pudlak syndrome type 4 | AR |
HPS5 | 607521 | Hermansky-Pudlak syndrome type 5 | AR |
HPS6 | 607522 | Hermansky-Pudlak syndrome type 6 | AR |
HRAS | 190020 | Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome | AD |
HSD17B10 | 300256 | HSD10 mitochondrial disease | XLD |
HSPD1 | 118190 | spastic paraplegia 13; hypomyelinating leukodystrophy-4 | AD, AR |
HUWE1 | 300697 | syndromic mental retardation, Turner type | XL |
HYDIN | 610812 | primary ciliary dyskinesia type 5 | AR |
IDS | 300823 | mucopolysaccharidosis type II | XLR |
IER3IP1 | 609382 | Microcephaly, epilepsy, and diabetes syndrome | AR |
IFIH1 | 606951 | Singleton-Merten syndrome type 1; Aicardi-Goutieres syndrome 7 | AD |
IGBP1 | 300139 | mental retardation 28 | XLR |
IGF1 | 147440 | Insulin-Like Growth Factor I Deficiency | AR |
IGF1R | 147370 | Insulin-like growth factor I, resistance to | AD, AR |
IL1RAPL1 | 300206 | mental retardation 21 | XLR |
INPP5E | 613037 | Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
INVS | 243305 | nephronophthisis 2 | AR |
IQSEC2 | 300522 | MENTAL RETARDATION, X-LINKED 1 | XLD |
IRX5 | 606195 | Hamamy syndrome | AR |
ITGA7 | 600536 | Muscular dystrophy, congenital, due to ITGA7 deficiency | AR |
ITGB3 | 173470 | Bleeding disorder, platelet-type, 16, autosomal dominant; Glanzmann thrombasthenia; Myocardial infarction, decreased susceptibility to | AD, AR |
ITPR1 | 147265 | spinocerebellar ataxia 29; Gillespie syndrome; spinocerebellar ataxia 15 | AD, AR |
JAG1 | 601920 | Alagille syndrome; Tetralogy of Fallot | AD |
KANK1 | 607704 | Cerebral palsy, spastic quadriplegic, 2 | |
KAT6A | 601408 | mental retardation- 32 | AD |
KAT6B | 605880 | Ohdo syndrome, SBBYS variant; Genitopatellar syndrome | AD |
KATNB1 | 602703 | lissencephaly 6 | AR |
KCNB1 | 600397 | early infantile epileptic encephalopathy 26 | AD |
KCNC1 | 176258 | Progressive myoclonic epilepsy 7 | AD |
KCNC3 | 176264 | spinocerebellar ataxia 13 | AD |
KCND3 | 605411 | spinocerebellar ataxia 19 | AD |
KCNJ10 | 602208 | autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance | AR |
KCNK9 | 605874 | ||
KCNMA1 | 600150 | Generalized epilepsy and paroxysmal dyskinesia; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16 | AD, AR |
KCNQ2 | 602235 | benign familial neonatal epilepsy; early-onset epileptic encephalopathy 7 | AD |
KCNQ3 | 602232 | Seizures, Benign Familial Neonatal, 2 | AD |
KDM5C | 314690 | syndromic mental retardation - Claes-Jensen type | XLR |
KDM6A | 300128 | Kabuki syndrome 2 | XLD |
KIF11 | 148760 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | AD |
KIF1A | 601255 | spastic paraplegia 30; Neuropathy, hereditary sensory, type IIC; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 | AD, AR |
KIF5C | 604593 | Cortical dysplasia, complex, with other brain malformations 2 | AD |
KIF7 | 611254 | Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 | AR |
KIRREL3 | 607761 | ||
KMT2A | 159555 | Wiedemann-Steiner syndrome | AD |
KMT2C | 606833 | Kleefstra syndrome type 2 | AD |
KMT2D | 602113 | Kabuki syndrome 1 | AD |
KNL1 | 609173 | primary microcephaly 4 | AR |
KRAS | 190070 | Arteriovenous malformations of the brain; Bladder Cancer; familial breast-ovarian cancer type 2; Gastric Cancer, Hereditary Diffuse; Schimmelpenning-Feuerstein-Mims Syndrome; Lung Cancer; Pancreatic Cancer; acute myeloid leukemia; Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type IV; Cardiofaciocutaneous syndrome 2 | AD |
L1CAM | 308840 | spastic paraplegia type 1; partial agenesis of the corpus callosum; hydrocephalus with stenosis of the aqueduct of Sylvius | XLR |
LAMA1 | 150320 | Poretti-Boltshauser syndrome | AR |
LAMA2 | 156225 | congenital muscular dystrophy type 1A; limb-girdle Muscular dystrophy type 23 | AR |
LAMB1 | 150240 | lissencephaly 5 | AR |
LAMC3 | 604349 | Cortical malformations, occipital | AR |
LAMP2 | 309060 | Danon disease | XLD |
LARGE1 | 603590 | congenital muscular dystrophy-dystroglycanopathy with mental retardation type B6; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6 | AR |
LEP | 164160 | Leptin deficiency | AR |
LINS1 | 610350 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 | AR |
LMX1B | 602575 | Nail-patella syndrome | AD |
LRBA | 606453 | Immunodeficiency, common variable, 8, with autoimmunity | AR |
LRP2 | 600073 | Donnai-Barrow syndrome | AR |
LZTR1 | 600574 | Noonan syndrome type 2; SCHWANNOMATOSIS 2; Noonan syndrome 10 | AD, AR |
MAGEL2 | 605283 | Schaaf-Yang syndrome | AD |
MAGT1 | 300715 | Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia | XLR |
MAN1B1 | 604346 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | AR |
MAOA | 309850 | Brunner syndrome | XLR |
MBD5 | 611472 | mental retardation-1 | AD |
MBTPS2 | 300294 | IFAP syndrome with or without BRESHECK syndrome; Keratosis follicularis spinulosa decalvans, X-linked | XLR |
MCCC2 | 609014 | 3-methylcrotonyl-CoA carboxylase 2 deficiency | AR |
MCM4 | 602638 | Natural killer cell and glucocorticoid deficiency with DNA repair defect | AR |
MCPH1 | 607117 | primary microcephaly 1 | AR |
MECP2 | 300005 | MENTAL RETARDATION, X-LINKED 13; X-linked syndromic mental retardation, Lubs type; Autism susceptibility, X-linked 3; severe neonatal encephalopathy; Rett syndrome | XL, XLD, XLR |
MED12 | 300188 | Opitz-Kaveggia syndrome /FG syndrome-1; Lujan-Fryns syndrome | XLR |
MED13L | 608771 | Mental retardation and distinctive facial features with or without cardiac defects | AD |
MED17 | 603810 | postnatal progressive microcephaly, seizures, and brain atrophy | AR |
MED23 | 605042 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 | AR |
MEF2C | 600662 | mental retardation- 20 | AD |
MEGF10 | 612453 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | AR |
MEIS2 | 601740 | Cleft palate, cardiac defects, and mental retardation | AD |
MET | 164860 | Hepatocellular Carcinoma; Renal cell carcinoma, papillary; deafness type 97 | AD, AR |
MFRP | 606227 | Nanophthalmos 2; isolated microphthalmia 5 | AR |
MFSD2A | 614397 | Microcephaly 15, primary, autosomal recessive | AR |
MGAT2 | 602616 | Congenital disorder of glycosylation, type IIa | AR |
MIB1 | 608677 | Left ventricular noncompaction 7 | AD |
MID1 | 300552 | Opitz GBBB syndrome, X-linked | XLR |
MITF | 156845 | Albinism, Ocular, With Sensorineural Deafness; Tietz Syndrome; Waardenburg syndrome type 2A; Melanoma, Cutaneous Malignant, Susceptibility To, 8 | AD, AR |
MKKS | 604896 | McKusick-Kaufman syndrome; Bardet-Biedl syndrome type 6 | AR |
MKS1 | 609883 | Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 | AR |
MLC1 | 605908 | megalencephalic leukoencephalopathy with subcortical cysts type 1 | AR |
MPDZ | 603785 | Hydrocephalus, nonsyndromic, autosomal recessive 2 | AR |
MSMO1 | 607545 | Microcephaly, congenital cataract, and psoriasiform dermatitis | AR |
MTHFR | 607093 | schizophrenia; thrombophilia due to thrombin defect; homocystinuria due to MTHFR deficiency; folate-sensitive neural tube defects | AD, AR |
MTM1 | 300415 | X-linked myotubular myopathy | XLR |
MTOR | 601231 | Smith-Kingsmore syndrome | AD |
MTR | 156570 | homocystinuria-megaloblastic anemia, cblG complementation type; folate-sensitive neural tube defects | AR |
MYCN | 164840 | Feingold syndrome | AD |
MYO5A | 160777 | Griscelli syndrome, type 1 | AR |
NAA10 | 300013 | Ogden syndrome; Microphthalmia, syndromic 1 | XL, XLD, XLR |
NAGA | 104170 | Schindler disease, type I, III | AR |
NALCN | 611549 | Hypotonia, infantile, with psychomotor retardation and characteristic facies; Congenital contractures of the limbs and face, hypotonia, and developmental delay | AD, AR |
NDE1 | 609449 | lissencephaly 4 | AR |
NDP | 300658 | Exudative Vitreoretinopathy 2, X-Linked; Norrie disease | XLD, XLR |
NDST1 | 600853 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 | AR |
NDUFA1 | 300078 | XLR | |
NECTIN1 | 600644 | Cleft lip/palate ectodermal dysplasia syndrome | AR |
NEXMIF | 300524 | mental retardation 98 | XLD |
NF1 | 613113 | neurofibromatosis type 1; Neurofibromatosis-Noonan syndrome; Leukemia, juvenile myelomonocytic | AD |
NFIX | 164005 | Marshall-Smith syndrome; Sotos syndrome 2 | AD |
NHEJ1 | 611290 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | |
NHS | 300457 | Nance-Horan syndrome | XL, XLD |
NIPA1 | 608145 | spastic paraplegia type 6 | AD |
NIPBL | 608667 | Cornelia de Lange syndrome 1 | AD |
NLGN3 | 300336 | Autism, Susceptibility To, X-Linked 1; Asperger Syndrome, X-Linked, Susceptibility To, 1 | XL |
NLGN4X | 300427 | Autism, Susceptibility To, X-Linked 2; Asperger Syndrome, X-Linked, Susceptibility To, 2 | XL |
NOTCH2 | 600275 | Hajdu-Cheney syndrome; Alagille syndrome 2 | AD |
NPHP1 | 607100 | nephronophthisis 1; Joubert syndrome 4 | AR |
NPHP3 | 608002 | Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7; nephronophthisis 3 | AR |
NR2F1 | 132890 | Bosch-Boonstra-Schaaf optic atrophy syndrome | AD |
NR3C2 | 600983 | Pseudohypoaldosteronism type I, autosomal dominant | AD |
NRXN1 | 600565 | Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome | AR |
NSD1 | 606681 | Sotos syndrome 1 | AD |
NSDHL | 300275 | CK syndrome; CHILD syndrome | XLD, XLR |
NSUN2 | 610916 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 | AR |
NTRK1 | 191315 | hereditary sensory and autonomic neuropathy type 4 | AR |
NXF5 | 300319 | ||
OCLN | 602876 | Band-like calcification with simplified gyration and polymicrogyria | AR |
OCRL | 300535 | Dent disease type 2; Lowe oculocerebrorenal syndrome | XLR |
OFD1 | 300170 | Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 | XLD, XLR |
OPHN1 | 300127 | X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance | XLR |
ORC1 | 601902 | Meier-gorlin syndrome 1 | AR |
OTC | 300461 | ornithine transcarbamylase deficiency | XLR |
PAFAH1B1 | 601545 | lissencephaly type 1 | AD |
PAH | 612349 | phenylketonuria | AR |
PAK3 | 300142 | mental retardation 30 | XLR |
PANK2 | 606157 | neurodegeneration with brain iron accumulation type 1; HARP syndrome | AR |
PAX3 | 606597 | Waardenburg syndrome, type 3; Waardenburg syndrome type 1 | AD, AR |
PAX6 | 607108 | Aniridia 1; foveal hypoplasia type 1 | AD |
PCDH15 | 605514 | Usher syndrome type 1D; Usher syndrome type 1F; deafness type 23 | AR, DiR |
PCDH19 | 300460 | early infantile epileptic encephalopathy type 9 | XL |
PCNT | 605925 | microcephalic osteodysplastic primordial dwarfism type 2 | AR |
PDE6D | 602676 | Joubert syndrome 22 | AR |
PDHA1 | 300502 | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
PEX1 | 602136 | Peroxisome biogenesis disorder type 1A (Zellweger); Heimler syndrome type 1; peroxisome biogenesis disorder type 1B | AR |
PEX10 | 602859 | peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B | AR |
PEX11B | 603867 | peroxisome biogenesis disorder 14B (Zellweger) | AR |
PEX12 | 601758 | peroxisome biogenesis disorder type 3B; peroxisome biogenesis disorder type 3A (Zellweger) | AR |
PEX13 | 601789 | peroxisome biogenesis disorder 11A (Zellweger); peroxisome biogenesis disorder 11B | AR |
PEX14 | 601791 | peroxisome biogenesis disorder 13A (Zellweger) | AR |
PEX16 | 603360 | peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B | AR |
PEX19 | 600279 | peroxisome biogenesis disorder 12A (Zellweger) | AR |
PEX2 | 170993 | peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B | AR |
PEX26 | 608666 | peroxisome biogenesis disorder type 7A (Zellweger); peroxisome biogenesis disorder 7B | AR |
PEX3 | 603164 | peroxisome biogenesis disorder 10A (Zellweger) | AR |
PEX5 | 600414 | peroxisome biogenesis disorder 2B (Zellweger); peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata, type 5 | AR |
PEX6 | 601498 | peroxisome biogenesis disorder type 4A (Zellweger); peroxisome biogenesis disorder type 4B; Heimler syndrome type 2 | AD, AR |
PEX7 | 601757 | Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) | AR |
PGAP1 | 611655 | mental retardation 42 | AR |
PGK1 | 311800 | Phosphoglycerate kinase 1 deficiency | XLR |
PHC1 | 602978 | primary microcephaly 11 | AR |
PHF6 | 300414 | Borjeson-Forssman-Lehmann syndrome | XLR |
PHF8 | 300560 | syndromic mental retardation, Siderius type | XLR |
PIGA | 311770 | Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2 | XLR |
PIGL | 605947 | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome | AR |
PIGN | 606097 | Multiple congenital anomalies-hypotonia-seizures syndrome type 1 | AR |
PIGO | 614730 | Hyperphosphatasia with mental retardation syndrome 2 | AR |
PIGV | 610274 | Hyperphosphatasia with mental retardation syndrome type 1 | AR |
PIK3R2 | 603157 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome | AD |
PITX2 | 601542 | Axenfeld-Rieger syndrome, type 1 | AD |
PLA2G6 | 603604 | infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 | AR |
PLCB1 | 607120 | early infantile epileptic encephalopathy 12 | AR |
PLK4 | 605031 | autosomal recessive microcephaly and chorioretinopathy, 2 | AR |
PLN | 172405 | dilated cardiomyopathy-1P; Cardiomyopathy, familial hypertrophic, 18 | AD |
PLP1 | 300401 | Pelizaeus-Merzbacher disease; spastic paraplegia 2 | XLR |
PNKP | 605610 | type 2B2 Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 10 | AR |
POGZ | 614787 | White-Sutton syndrome | AD |
POLR3A | 614258 | hypomyelinating leukodystrophy-7 | AR |
POLR3B | 614366 | hypomyelinating leukodystrophy-8 | AR |
POMGNT1 | 606822 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B3; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C3; retinitis pigmentosa type 76 | AR |
POMGNT2 | 614828 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8 | AR |
POMK | 615247 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A12; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type C12 | AR |
POMT1 | 607423 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C1; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B1 | AR |
POMT2 | 607439 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C2 | AR |
PORCN | 300651 | Focal dermal hypoplasia | XLD |
POT1 | 606478 | Melanoma, cutaneous malignant, susceptibility to, 10 | AD |
PPOX | 600923 | variegate porphyria | AD |
PPT1 | 600722 | neuronal ceroid lipofuscinosis type 1 | AR |
PQBP1 | 300463 | Renpenning Syndrome 1 | XLR |
PRICKLE1 | 608500 | Epilepsy, progressive myoclonic 1B | AR |
PRKN | 602544 | Ovarian Cancer; Lung Cancer; Parkinson disease 2 | AR |
PRODH | 606810 | Hyperprolinemia, type I; susceptibility to Schizophrenia, 4 | AD, AR |
PRPS1 | 311850 | Phosphoribosylpyrophosphate synthetase superactivity; Arts syndrome; deafness type 1; type X5 Charcot-Marie-Tooth | XL, XLR |
PRSS12 | 606709 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 | AR |
PTCH1 | 601309 | Gorlin syndrome; Holoprosencephaly-7 | AD |
PTEN | 601728 | Cowden syndrome 1; Cowden syndrome type 2; Bannayan-Riley-Ruvalcaba syndrome; Prostate Cancer; Macrocephaly/autism syndrome; Meningioma, familial, susceptibility to | AD |
PTPN11 | 176876 | LEOPARD syndrome 1; Noonan syndrome 1; Leukemia, juvenile myelomonocytic | AD |
PTPRC | 151460 | Severe combined imunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK-cell positive; Hepatitis C Virus, Susceptibility To | AR |
PTS | 612719 | Hyperphenylalaninemia, BH4-deficient, A | AR |
PURA | 600473 | mental retardation- 31 | AD |
PYCR1 | 179035 | autosomal recessive cutis laxa type 2B | AR |
PYCR2 | 616406 | hypomyelinating leukodystrophy-10 | AR |
QARS1 | 603727 | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy | AR |
RAB18 | 602207 | Warburg micro syndrome 3 | AR |
RAB39B | 300774 | mental retardation 72 | XLR |
RAB3GAP1 | 602536 | Warburg micro syndrome 1 | AR |
RAB3GAP2 | 609275 | Martsolf syndrome; Warburg micro syndrome 2 | AR |
RAD21 | 606462 | Cornelia de Lange syndrome type 4 | AD, AR |
RAI1 | 607642 | Smith-Magenis syndrome | AD |
RARS2 | 611524 | pontocerebellar hypoplasia type 6 | AR |
RBBP8 | 604124 | Jawad syndrome / Microcephaly with mental retardation and digital anomalies; Seckel syndrome 2 | AR |
RBFOX1 | 605104 | ||
RBM10 | 300080 | TARP syndrome | XLR |
RELN | 600514 | lissencephaly 2; familial temporal lobe epilepsy, 7 | AD, AR |
RET | 164761 | Hirschsprung disease; familial medullary thyroid carcinoma; multiple endocrine neoplasia 2B; pheochromocytoma; multiple endocrine neoplasia 2A; congenital central hypoventilation syndrome | AD |
RIMS1 | 606629 | Cone-rod dystrophy 7 | |
RNASEH2A | 606034 | Aicardi-Goutieres syndrome type 4 | AR |
RNASEH2B | 610326 | Aicardi-Goutieres syndrome type 2 | AR |
RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
ROGDI | 614574 | Kohlschutter-Tonz syndrome | AR |
ROR2 | 602337 | Brachydactyly, type B1; Robinow syndrome, autosomal recessive | AD, AR |
RPGRIP1L | 610937 | COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 | AR |
RPL10 | 312173 | Autism, susceptibility to, X-linked 5 | XLR |
RPS6KA3 | 300075 | MENTAL RETARDATION, X-LINKED 19; Coffin-Lowry syndrome | XLD |
RXYLT1 | 605862 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A10 | AR |
SALL1 | 602218 | Townes-Brocks syndrome | AD |
SAMHD1 | 606754 | Aicardi-Goutieres syndrome type 5; Chilblain lupus type 2 | AD, AR |
SASS6 | 609321 | autosomal recessive primary microcephaly, 14 | AR |
SATB2 | 608148 | SATB2-associated syndrome (SAS) :Glass syndrome | AD |
SBF1 | 603560 | type 4B3 Charcot-Marie-Tooth disease | AR |
SCN1A | 182389 | generalized epilepsy with febrile seizures plus 2; early infantile epileptic encephalopathy 6; familial hemiplegic migraine-3 | AD |
SCN2A | 182390 | benign familial neonatal-infantile seizures type 3; early infantile epileptic encephalopathy 11 | AD |
SCN4A | 603967 | Paramyotonia congenita; Hyperkalemic periodic paralysis, type 2; Atypical myotonia congenita, acetazolamide-responsive; Hypokalemic periodic paralysis, type 2; Myasthenic syndrome, acetazolamide-responsive | AD, AR |
SCN8A | 600702 | Cognitive impairment with or without cerebellar ataxia; early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 | AD |
SCN9A | 603415 | primary erythermalgia; Paroxysmal extreme pain disorder; INDIFFERENCE TO PAIN, CONGENITAL; generalized epilepsy with febrile seizures plus 7 | AD, AR |
SCO2 | 604272 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6 | AD, AR |
SDCCAG8 | 613524 | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | AR |
SDHA | 600857 | mitochondrial complex II deficiency; Leigh syndrome; dilated cardiomyopathy-1GG; paragangliomas type 5 | AD, AR, M |
SEPSECS | 613009 | pontocerebellar hypoplasia type 2D | AR |
SETBP1 | 611060 | Schinzel-giedion midface retraction syndrome; mental retardation type 29 | AD |
SETD2 | 612778 | Luscan-Lumish syndrome | AD |
SGCA | 600119 | limb-girdle Muscular dystrophy type 3 | AR |
SHANK2 | 603290 | Autism susceptibility 17 | |
SHH | 600725 | Holoprosencephaly 3; Solitary Median Maxillary Central Incisor; Schizencephaly; Microphthalmia, Isolated, With Coloboma 5 | AD |
SHROOM4 | 300579 | Stocco dos Santos X-linked mental retardation syndrome | XL |
SIL1 | 608005 | Marinesco-Sjogren syndrome | AR |
SIX3 | 603714 | Holoprosencephaly 2; Schizencephaly | AD |
SLC12A5 | 606726 | early infantile epileptic encephalopathy type 34; susceptibility to idiopathic generalized epilepsy-14 | AD, AR |
SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
SLC25A12 | 603667 | Epileptic encephalopathy, early infantile, 39 | AR |
SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
SLC25A19 | 606521 | Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) | AR |
SLC27A4 | 604194 | Ichthyosis prematurity syndrome | |
SLC2A1 | 138140 | Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12 | AD, AR |
SLC35A2 | 314375 | congenital disorder of glycosylation type 2m | XLD |
SLC35A3 | 605632 | ?Arthrogryposis, mental retardation, and seizures | AR |
SLC4A4 | 603345 | Renal tubular acidosis, proximal, with ocular abnormalities | AR |
SLC6A1 | 137165 | Myoclonic-atonic epilepsy | AD |
SLC6A3 | 126455 | Tobacco Addiction, Susceptibility To; Parkinsonism-dystonia, infantile | AR |
SLC6A8 | 300036 | Cerebral creatine deficiency syndrome type 1 | XLR |
SLC7A7 | 603593 | Lysinuric protein intolerance | AR |
SLC9A6 | 300231 | Christianson type of X-linked syndromic mental retardation | XLD |
SLC9A9 | 608396 | susceptibility to autism type 16 | |
SLCO1B3 | 605495 | Hyperbilirubinemia, Rotor type, digenic | DiR |
SMAD4 | 600993 | Myhre syndrome; Juvenile polyposis syndrome, infantile form; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Pancreatic Cancer | AD |
SMARCA2 | 600014 | Nicolaides-Baraitser syndrome | AD |
SMARCA4 | 603254 | Rhabdoid tumor predisposition syndrome 2; mental retardation-16 | AD |
SMARCB1 | 601607 | Schwannomatosis; Rhabdoid tumors, somatic; Coffin-Siris syndrome 3 | AD |
SMARCE1 | 603111 | Meningioma, familial, susceptibility to | AD |
SMC1A | 300040 | Cornelia de Lange syndrome 2 | XLD |
SMC3 | 606062 | Cornelia de Lange syndrome 3 | AD |
SMPD1 | 607608 | Niemann-Pick disease type A; Niemann-Pick disease type A/B | AR |
SMS | 300105 | Snyder-Robinson mental retardation syndrome | XLR |
SNAI2 | 602150 | Piebaldism; Waardenburg syndrome type 2d | AD, AR |
SNAP29 | 604202 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | AR |
SNIP1 | 608241 | AR | |
SOBP | 613667 | AR | |
SOD1 | 147450 | amyotrophic lateral sclerosis 1 | AD, AR |
SOX10 | 602229 | PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome, type 4C | AD |
SOX2 | 184429 | Microphthalmia, Syndromic 3 | AD |
SOX3 | 313430 | Mental Retardation, X-Linked, With Panhypopituitarism; Panhypopituitarism, X-linked | XL |
SPAST | 604277 | spastic paraplegia-4 | AD |
SRD5A3 | 611715 | congenital disorder of glycosylation type 1q; Kahrizi syndrome | AR |
ST3GAL3 | 606494 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; early infantile epileptic encephalopathy, 15 | AR |
STAMBP | 606247 | Microcephaly-capillary malformation syndrome | AR |
STIL | 181590 | primary microcephaly 7 | AR |
STRA6 | 610745 | Microphthalmia, isolated, with coloboma 8 | AR |
STXBP1 | 602926 | early infantile epileptic encephalopathy 4 | AD |
SYN1 | 313440 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | XLD, XLR |
SYNE1 | 608441 | autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 | AD, AR |
SYNGAP1 | 603384 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | AD |
SYNJ1 | 604297 | Parkinson disease 20, early-onset; early infantile epileptic encephalopathy type 53 | AR |
SYP | 313475 | mental retardation 96 | XLR |
TAF2 | 604912 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 | AR |
TAF6 | 602955 | Alazami-Yuan syndrome | AR |
TBC1D20 | 611663 | Warburg micro syndrome 4 | AR |
TBC1D24 | 613577 | DOOR syndrome; Myoclonic epilepsy, infantile, familial; Rolandic epilepsy with proxysmal exercise-induced dystonia and writer's cramp; deafness type 86; Epileptic encephalopathy, early infantile, 16; deafness type 65 | AD, AR |
TBCE | 604934 | Hypoparathyroidism-retardation-dysmorphism syndrome(SANJAD-SAKATI SYNDROME) | AR |
TBL1XR1 | 608628 | Pierpont syndrome; Mental retardation, autosomal dominant 41 | AD |
TBX1 | 602054 | Tetralogy of Fallot; DiGeorge syndrome; Velocardiofacial syndrome; Conotruncal Heart Malformations | AD |
TCF4 | 602272 | Pitt-Hopkins syndrome | AD |
TCTN1 | 609863 | Joubert syndrome 13 | AR |
TCTN2 | 613846 | Meckel syndrome 8; Joubert syndrome type 24 | AR |
TCTN3 | 613847 | oral-facial-digital syndrome 4; Joubert syndrome 18 | AR |
TECR | 610057 | mental retardation 14 | AR |
TECTA | 602574 | Deafness, autosomal dominant 8/12; deafness type 21 | AD, AR |
TFAP2A | 107580 | Branchiooculofacial syndrome | AD |
TGIF1 | 602630 | Holoprosencephaly-4 | AD |
THRA | 190120 | Hypothyroidism, congenital, nongoitrous, 6 | AD |
TIMM8A | 300356 | Mohr-Tranebjaerg syndrome | XLR |
TINF2 | 604319 | Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 | AD |
TMCO1 | 614123 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | AR |
TMEM138 | 614459 | Joubert syndrome 16 | AR |
TMEM216 | 613277 | Meckel Syndrome type 2; Joubert syndrome type 2 | AR |
TMEM231 | 614949 | Joubert syndrome 20; Meckel syndrome, type 11 | AR |
TMEM237 | 614423 | Joubert syndrome 14 | AR |
TMEM67 | 609884 | COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 | AR |
TMLHE | 300777 | susceptibility to autism type 6 | XLR |
TPO | 606765 | Thyroid dyshormonogenesis 2A | AR |
TRAPPC9 | 611966 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 | AR |
TREX1 | 606609 | systemic lupus erythematosus; retinal vasculopathy with cerebral leukodystrophy; Aicardi-Goutieres syndrome type 1; chilblain lupus type 1 | AD, AR |
TRMT10A | 616013 | Microcephaly, short stature, and impaired glucose metabolism 1 | AR |
TRPC6 | 603652 | Glomerulosclerosis, focal segmental, 2 | AD |
TSC1 | 605284 | tuberous sclerosis type 1 | AD |
TSC2 | 191092 | tuberous sclerosis-2 | AD |
TSEN2 | 608753 | pontocerebellar hypoplasia type 2B | AR |
TSEN34 | 608754 | pontocerebellar hypoplasia type 2C | AR |
TSEN54 | 608755 | pontocerebellar hypoplasia type 4; pontocerebellar hypoplasia type 2A; pontocerebellar hypoplasia type 5 | AR |
TSPAN7 | 300096 | mental retardation 58 | XLR |
TTC21B | 612014 | Short-rib thoracic dysplasia 4 with or without polydactyly; nephronophthisis 12 | AD, AR |
TTI2 | 614426 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 | AR |
TTN | 188840 | Tibial muscular dystrophy, tardive; Hereditary myopathy with early respiratory failure; dilated cardiomyopathy type 1G; limb-girdle muscular dystrophy type 2J; early-onset myopathy with fatal cardiomyopathy; familial hypertrophic cardiomyopathy type 9 | AD, AR |
TUBA1A | 602529 | lissencephaly 3 | AD |
TUBA8 | 605742 | Polymicrogyria with optic nerve hypoplasia | AR |
TUBB2B | 612850 | Polymicrogyria, symmetric or asymmetric | AD |
TUBB3 | 602661 | Fibrosis of extraocular muscles, congenital, 3A; Cortical dysplasia, complex, with other brain malformations | AD |
TUBB4A | 602662 | dystonia 4; hypomyelinating leukodystrophy-6 | AD |
TUBGCP4 | 609610 | AR | |
TUBGCP6 | 610053 | Microcephaly and chorioretinopathy with or without mental retardation | AR |
TUSC3 | 601385 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 | AR |
TYR | 606933 | Albinism, Ocular, With Sensorineural Deafness; oculocutaneous albinism type 1A; Skin/hair/eye pigmentation 3; Albinism, oculocutaneous, type IB | AD, AR |
UBE2A | 312180 | syndromic mental retardation, Nascimento type | XLR |
UBE3A | 601623 | Angelman syndrome | AD |
UBR1 | 605981 | Johanson-Blizzard syndrome | AR |
UPF3B | 300298 | mental retardation 14 | XLR |
USH2A | 608400 | Usher syndrome type 2A; retinitis pigmentosa type 39 | AR |
USP9X | 300072 | mental retardation 99 | XLD, XLR |
VDR | 601769 | vitamin D-dependent rickets type 2A | AR |
VLDLR | 192977 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome | AR |
VPS13B | 607817 | Cohen syndrome | AR |
VPS53 | 615850 | pontocerebellar hypoplasia type 2E | AR |
VRK1 | 602168 | pontocerebellar hypoplasia type 1A | AR |
WAC | 615049 | Desanto-Shinawi syndrome | AD |
WDR45 | 300526 | neurodegeneration with brain iron accumulation 5 | XLD |
WDR62 | 613583 | primary microcephaly 2 | AR |
WDR81 | 614218 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | AR |
WNT1 | 164820 | osteogenesis imperfecta type 15; susceptibility to early-onset autosomal dominant osteoporosis | AR |
WNT5A | 164975 | Robinow syndrome, autosomal dominant | AD |
WWOX | 605131 | Esophageal cancer, somatic; autosomal recessive spinocerebellar ataxia 12; early infantile epileptic encephalopathy 28 | AR |
YWHAE | 605066 | ||
ZBTB18 | 608433 | mental retardation- 22 | AD |
ZDHHC9 | 300646 | syndromic mental retardation, ZDHHC9-related | XL |
ZEB2 | 605802 | Mowat-Wilson syndrome | AD |
ZFYVE26 | 612012 | spastic paraplegia type 15 | AR |
ZIC2 | 603073 | Holoprosencephaly 5 | AD |
ZIC3 | 300265 | Heterotaxy, visceral, 1, x-linked; Vacterl association, x-linked, with or without hydrocephalus | XLR |
ZNF335 | 610827 | primary microcephaly 10 | AR |
ZNF41 | 314995 | ||
ZNF423 | 604557 | nephronophthisis 14; Joubert syndrome 19 | AD, AR |
ZNF711 | 314990 | mental retardation 97 | XL |
ZNF81 | 314998 |
Common syndromes and disorders covered
Aicardi-Goutieres syndrome
Bardet-Biedl syndrome
Intellectual disability AD, AR, XL
Micro syndrome
Microcephaly
Neuronal migration disorders
Syndromic autism
Neuromuscular panel
Our neuromuscular panel is ideal for patients with muscular diseases. It includes genes causing neurological diseases and covers disorders, such as metabolic myopathies, muscular dystrophies, Charcot- Marie-Tooth, congenital myasthenic syndromes, congenital myopathies, myofibrillar myopathies, nemaline myopathies, and other syndromes with hypotonia, myotonia, or weakness. Arthrogryposis is included for differential diagnosis of early-onset neuromuscular disorders. If there is high diagnostic suspicion for Duchenne muscular dystrophy, we recommend that the clinician orders deletion/duplication analysis by MLPA targeted to the DMD gene as an additional service.
No. of genes: | 276 |
TAT: | 25 days |
Coverage: | ≥99.5% ≥20x |
Details: | CNV analysis included Repeat Expansion: DMPK |
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
AARS1 | 601065 | type 2N Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 29 | AD, AR |
ABHD5 | 604780 | Chanarin-Dorfman syndrome | AR |
ACAD9 | 611103 | Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of | AR |
ACADM | 607008 | medium chain acyl-CoA dehydrogenase deficiency | AR |
ACADVL | 609575 | very long chain acyl-CoA dehydrogenase deficiency | AR |
ACTA1 | 102610 | Myopathy, nemaline, 3; Myopathy, congenital, with fiber-type disproportion | AD, AR |
AGL | 610860 | glycogen storage disease type III | AR |
AGRN | 103320 | congenital myasthenic syndrome type 8, with pre- and postsynaptic defects | AR |
AHCY | 180960 | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | AR |
AIFM1 | 300169 | Deafness, X-linked 5; Combined oxidative phosphorylation deficiency 6; Cowchock syndrome | XLR |
ALDOA | 103850 | Glycogen storage disease XII | AR |
ALG14 | 612866 | AR | |
ALG2 | 607905 | congenital disorder of glycosylation type 1i | AR |
AMPD1 | 102770 | Myopathy due to myoadenylate deaminase deficiency | AR |
ANO5 | 608662 | gnathodiaphyseal dysplasia; limb-girdle muscular dystrophy type 2L | AD, AR |
ARHGEF10 | 608136 | slowed nerve conduction velocity | AD |
ARHGEF9 | 300429 | Epileptic encephalopathy, early infantile, 8 | XLR |
ASAH1 | 613468 | Spinal muscular atrophy with progressive myoclonic epilepsy; Farber lipogranulomatosis | AR |
ATL1 | 606439 | spastic paraplegia 3A | AD |
ATP2A1 | 108730 | Brody myopathy | AR |
ATP7A | 300011 | X-linked distal spinal muscular atrophy type 3; Occipital horn syndrome; Menkes disease | XLR |
B3GALNT2 | 610194 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11 | AR |
B4GAT1 | 605517 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A13 | AR |
BAG3 | 603883 | Myopathy, myofibrillar, 6; dilated cardiomyopathy-1HH | AD |
BICD2 | 609797 | autosomal dominant lower extremity-predominant spinal muscular atrophy type 2 | AD |
BIN1 | 601248 | centronuclear myopathy | AR |
BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy, progressive, with or without lipodystrophy | AD, AR |
CACNA1S | 114208 | hypokalemic periodic paralysis 1; Thyrotoxic periodic paralysis Type 1; Malignant hyperthermia susceptibility 5 | AD |
CAPN3 | 114240 | limb-girdle muscular dystrophy type 1; limb-girdle muscular dystrophy type 4 | AD, AR |
CASK | 300172 | Fg Syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia | XLD |
CAV1 | 601047 | AD, AR | |
CAV3 | 601253 | Creatine phosphokinase, elevated serum; familial hypertrophic cardiomyopathy 1; Rippling muscle disease; Rippling muscle disease 2; long QT syndrome 9 | AD, DiD |
CCDC78 | 614666 | Myopathy, centronuclear, 4 | AD |
CFL2 | 601443 | nemaline myopathy type 7 | AR |
CHAT | 118490 | Presynaptic congenital myasthenic syndrome type 6 | AR |
CHCHD10 | 615903 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | AD |
CHKB | 612395 | Muscular dystrophy, congenital, megaconial type | AR |
CHRNA1 | 100690 | Multiple pterygium syndrome, lethal type; Myasthenic syndrome, slow-channel congenital; Myasthenic syndrome, fast-channel congenital | AD, AR |
CHRNB1 | 100710 | Myasthenic syndrome, congenital, 2A, slow-channel; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency | AD, AR |
CHRND | 100720 | Multiple pterygium syndrome, lethal type; slow-channel congenital myasthenic syndrome type 3A; Congenital fast-channel myasthenic syndrome type 3B; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency | AD, AR |
CHRNE | 100725 | slow-channel congenital myasthenic syndrome type 4A; congenital myasthenic syndrome type 4C, associated with acetylcholine receptor deficiency; fast-channel congenital myasthenic syndrome type 4B | AD, AR |
CHRNG | 100730 | Multiple pterygium syndrome, lethal type; Multiple Pterygium Syndrome, Escobar Variant | AR |
CHST14 | 608429 | Ehlers-Danlos syndrome musculocontractural type 1 | AR |
CLCN1 | 118425 | myotonia congenita (Thomsen myotonia); myotonia congenita (Becker myotonia) | AD, AR |
CNTN1 | 600016 | Myopathy, congenital, Compton-North | AR |
COL12A1 | 120320 | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | AD |
COL6A1 | 120220 | Bethlem myopathy type 1; Ullrich congenital muscular dystrophy | AD, AR |
COL6A2 | 120240 | Bethlem myopathy type 1; Ullrich congenital muscular dystrophy | AD, AR |
COL6A3 | 120250 | Bethlem myopathy type 1; Ullrich congenital muscular dystrophy; dystonia 27 | AD, AR |
COLQ | 603033 | congenital myasthenic syndrome type 5 | AR |
COQ2 | 609825 | Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1 | AD, AR |
COX6A1 | 602072 | intermediate type D Charcot-Marie-Tooth | AR |
CPT2 | 600650 | stress-induced myopathic CPT II deficiency; infantile CPT deficiency; lethal neonatal CPT II deficiency; susceptibility to infection-induced acute encephalopathy type 4 | AD, AR |
CRPPA | 614631 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C7 | AR |
CRYAB | 123590 | Myopathy, myofibrillar, 2; Cataract 16, multiple types; Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related; dilated cardiomyopathy-1II | AD, AR |
CSRP3 | 600824 | dilated cardiomyopathy-1M; Cardiomyopathy, familial hypertrophic, 12 | AD |
CTDP1 | 604927 | Congenital cataracts, facial dysmorphism, and neuropathy | AR |
DAG1 | 128239 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type C9 | AR |
DCTN1 | 601143 | amyotrophic lateral sclerosis 1; Perry syndrome; Neuronopathy, Distal Hereditary Motor, Type Viib | AD, AR |
DES | 125660 | Scapuloperoneal syndrome, neurogenic, Kaeser type; Myopathy, myofibrillar, 1; dilated cardiomyopathy-1I | AD, AR |
DGUOK | 601465 | mitochondrial DNA depletion syndrome 3 | AR |
DHCR24 | 606418 | Desmosterolosis | AR |
DHTKD1 | 614984 | 2-aminoadipic 2-oxoadipic aciduria; type 2Q Charcot-Marie-Tooth disease | AD, AR |
DMD | 300377 | Becker muscular dystrophy; dilated cardiomyopathy type 3B; Duchenne muscular dystrophy | XL, XLR |
DMPK | 605377 | myotonic dystrophy type 1 | AD |
DNA2 | 601810 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6 | AD, AR |
DNAJB2 | 604139 | autosomal recessive distal spinal muscular atrophy type 5 | AR |
DNAJB6 | 611332 | limb-girdle muscular dystrophy type 1E | AD |
DNM2 | 602378 | Myopathy, centronuclear 1; CHARCOT-MARIE-TOOTH, DOMINANT INTERMEDIATE TYPE B; Lethal congenital contracture syndrome 5 | AD, AR |
DNMT1 | 126375 | cerebellar ataxia, deafness and narcolepsy; Neuropathy, hereditary sensory, type IE | AD |
DOK7 | 610285 | congenital myasthenic syndrome type 10 | AR |
DPAGT1 | 191350 | congenital disorder of glycosylation type 1j; Myasthenic syndrome, congenital, with tubular aggregates 13 | AR |
DPM1 | 603503 | Congenital disorder of glycosylation, type Ie | AR |
DPM2 | 603564 | Congenital disorder of glycosylation, type Iu | AR |
DPM3 | 605951 | congenital disorder of glycosylation, type Io | AR |
DYNC1H1 | 600112 | lower extremity-predominant spinal muscular atrophy type 1; type 2O Charcot-Marie-Tooth disease; mental retardation-13 | AD |
DYSF | 603009 | limb-girdle muscular dystrophy type 2B; Miyoshi muscular dystrophy type 1; distal myopathy with anterior tibial onset | AR |
ECEL1 | 605896 | distal arthrogryposis type 5D | AR |
EGR2 | 129010 | Dejerine-Sottas syndrom; congenital hypomyelinating neuropathy; type 1D Charcot-Marie-Tooth disease | AD, AR |
ELP1 | 603722 | hereditary sensory and autonomic neuropathy type III | AR |
EMD | 300384 | Emery-Dreifuss muscular dystrophy type 1 | XLR |
ENO3 | 131370 | Glycogen storage disease XIII | AR |
ERCC5 | 133530 | xeroderma pigmentosum complementation group G; cerebrooculofacioskeletal syndrome type 3 | AR |
ERCC6 | 609413 | Cockayne syndrome, type B; Lung Cancer; Cerebrooculofacioskeletal syndrome 1 | AD, AR |
ETFA | 608053 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETFB | 130410 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETFDH | 231675 | multiple acyl-CoA dehydrogenase deficiency | AR |
EXOSC3 | 606489 | pontocerebellar hypoplasia type 1B | AR |
EXOSC8 | 606019 | AR | |
FBLN5 | 604580 | Cutis laxa, autosomal recessive, type IA; hereditary neuropathy with or without age-related macular degeneration | AD, AR |
FBN2 | 612570 | congenital contractural arachnodactyly; early-onset macular degeneration | AD |
FBXO38 | 608533 | distal hereditary motor neuronopathy type IID | AD |
FGD4 | 611104 | type 4H Charcot-Marie-Tooth disease | AR |
FHL1 | 300163 | Scapuloperoneal myopathy, X-linked dominant; Myopathy, X-linked, with postural muscle atrophy; Emery-Dreifuss muscular dystrophy 6; Myopathy, Reducing Body, X-Linked, Early-Onset, Severe; Myopathy, reducing body, X-linked, childhood-onset | XL, XLD, XLR |
FIG4 | 609390 | Yunis-Varon syndrome; type 4J Charcot-Marie-Tooth disease; amyotrophic lateral sclerosis 11; Polymicrogyria, bilateral temporooccipital | AD, AR |
FKBP10 | 607063 | Bruck syndrome 1; osteogenesis imperfecta type 11 | AR |
FKRP | 606596 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B5; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C5; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | AR |
FKTN | 607440 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A4; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C4; dilated cardiomyopathy type 1X; congenital muscular dystrophy-dystroglycanopathy without mental retardation type B4 | AR |
FLNC | 102565 | Myopathy, myofibrillar, 5; distal myopathy type 4; Cardiomyopathy, Familial Hypertrophic, 26 | AD |
GAA | 606800 | Pompe disease | AR |
GAN | 605379 | giant axonal neuropathy | AR |
GARS1 | 600287 | Neuropathy, distal hereditary motor, type V; type 2D Charcot-Marie-Tooth disease | AD |
GBA | 606463 | Lewy body dementia; Susceptibility to late-onset Parkinson disease; Gaucher disease type 1; Gaucher disease type 2 (acute); Gaucher disease type 3 (subacute/ chronic); Gaucher disease, cardiovascular form; Gaucher disease, perinatal-lethal form | AD, AR |
GBE1 | 607839 | storage disease type 4; Polyglucosan body disease, adult form | AR |
GDAP1 | 606598 | type 4A Charcot-Marie-Tooth disease; type 2K Charcot-Marie-Tooth disease | AD, AR |
GFPT1 | 138292 | congenital myasthenic syndrome with tubular aggregates type 1 | AR |
GJB1 | 304040 | Charcot-Marie-Tooth disease type 1 | XLD |
GLE1 | 603371 | Lethal congenital, contracture syndrome 1 | AR |
GLRA1 | 138491 | Hyperekplexia, hereditary 1, autosomal dominant or recessive | AD, AR |
GLRB | 138492 | Hyperekplexia 2, autosomal recessive | AR |
GMPPB | 615320 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | AR |
GNB4 | 610863 | intermediate type F Charcot-Marie-Tooth | AD |
GNE | 603824 | Sialuria; Nonaka myopathy | AD, AR |
GPHN | 603930 | Molybdenum cofactor deficiency, complementation group c | AR |
GYG1 | 603942 | Glycogen storage disease XV; Polyglucosan body myopathy 2 | AR |
GYS1 | 138570 | Glycogen storage disease 0, muscle | AR |
HADHA | 600890 | mitochondrial trifunctional protein deficiency; long-chain 3-hydroxyl-CoA dehydrogenase deficiency | AR |
HADHB | 143450 | mitochondrial trifunctional protein deficiency | AR |
HINT1 | 601314 | Neuromyotonia and axonal neuropathy, autosomal recessive | AR |
HK1 | 142600 | Hemolytic anemia due to hexokinase deficiency; Neuropathy, hereditary motor and sensory, Russe type; Retinitis pigmentosa 79; Neurodevelopmental disorder with visual defects and brain anomalies | AD, AR |
HNRNPDL | 607137 | limb-girdle muscular dystrophy type 1G | AD |
HOXD10 | 142984 | AD | |
HRAS | 190020 | Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome | AD |
HSPB1 | 602195 | type 2F Charcot-Marie-Tooth disease; Neuropathy, distal hereditary motor, type IIB | AD |
HSPB3 | 604624 | Neuronopathy, distal hereditary motor, type iic | AD |
HSPB8 | 608014 | Neuropathy, distal hereditary motor, type IIA; type 2L Charcot-Marie-Tooth disease | AD |
HSPG2 | 142461 | Silverman-Handmaker type of dyssegmental dysplasia; Schwartz-Jampel syndrome | AR |
IGHMBP2 | 600502 | distal hereditary motor neuronopathy type VI; type 2S Charcot-Marie-Tooth disease | AR |
INF2 | 610982 | Focal Segmental Glomerulosclerosis 5; intermediate type E Charcot-Marie-Tooth | AD |
ISCU | 611911 | AR | |
ITGA7 | 600536 | Muscular dystrophy, congenital, due to ITGA7 deficiency | AR |
KARS1 | 601421 | CHARCOT-MARIE-TOOTH, RECESSIVE INTERMEDIATE TYPE B; Deafness, autosomal recessive 89 | AR |
KAT6B | 605880 | Ohdo syndrome, SBBYS variant; Genitopatellar syndrome | AD |
KBTBD13 | 613727 | Nemaline Myopathy 6 | AD |
KCNA1 | 176260 | Episodic ataxia/myokymia syndrome | AD |
KCNE3 | 604433 | Brugada syndrome 6 | |
KIF1A | 601255 | spastic paraplegia 30; Neuropathy, hereditary sensory, type IIC; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 | AD, AR |
KIF1B | 605995 | type 2A1 Charcot-Marie-Tooth disease; pheochromocytoma | AD |
KIF5A | 602821 | spastic paraplegia 10; Neonatal intractable myoclonus | AD |
KLHL40 | 615340 | Nemaline myopathy 8, autosomal recessive | AR |
KLHL41 | 607701 | Nemaline myopathy 9 | AR |
LAMA2 | 156225 | congenital muscular dystrophy type 1A; limb-girdle Muscular dystrophy type 23 | AR |
LAMB2 | 150325 | Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities | AR |
LAMP2 | 309060 | Danon disease | XLD |
LARGE1 | 603590 | congenital muscular dystrophy-dystroglycanopathy with mental retardation type B6; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6 | AR |
LDB3 | 605906 | dilated cardiomyopathy-1C; Myopathy, myofibrillar, 4 | AD |
LDHA | 150000 | Glycogen storage disease XI | AR |
LIMS2 | 607908 | limb-girdle muscular dystrophy type 2W | AR |
LITAF | 603795 | type 1C Charcot-Marie-Tooth disease | AD |
LMNA | 150330 | dilated cardiomyopathy-1A; Lipodystrophy, familial partial, 2; Hutchinson-Gilford progeria; limb-girdle muscular dystrophy type 1B; Emery-Dreifuss muscular dystrophy 2; Malouf syndrome; Mandibuloacral dysplasia; Restrictive dermopathy, lethal; type 2B1 Charcot-Marie-Tooth disease; Heart-hand syndrome, Slovenian type; Muscular dystrophy, congenital; Emery-Dreifuss muscular dystrophy 3, AR | AD, AR |
LMOD3 | 616112 | Nemaline myopathy 10 | AR |
LPIN1 | 605518 | Myoglobinuria, acute recurrent, autosomal recessive | AR |
LRSAM1 | 610933 | type 2P Charcot-Marie-Tooth disease | AD, AR |
MAGEL2 | 605283 | Schaaf-Yang syndrome | AD |
MAMLD1 | 300120 | Hypospadias 2, X-linked | XLR |
MARS1 | 156560 | Interstitial lung and liver disease; type 2U Charcot-Marie-Tooth disease | AD, AR |
MATR3 | 164015 | Myopathy, Distal, 2 | AD |
MED25 | 610197 | Basel-Vanagait-Smirin-Yosef syndrome | AR |
MEGF10 | 612453 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | AR |
MFN2 | 608507 | hereditary motor and sensory neuropathy type VIA with optic atrophy; axonal Charcot-Marie-Tooth disease type 2A2A; axonal Charcot-Marie-Tooth disease type 2A2B | AD, AR |
MICU1 | 605084 | Myopathy with extrapyramidal signs | AR |
MPV17 | 137960 | mitochondrial DNA depletion syndrome type 6 | AR |
MPZ | 159440 | type 1B Charcot-Marie-Tooth disease; Dejerine-Sottas syndrom; type 2I Charcot-Marie-Tooth disease; type 2J Charcot-Marie-Tooth disease | AD, AR |
MTM1 | 300415 | X-linked myotubular myopathy | XLR |
MTMR14 | 611089 | Myopathy, centronuclear 1 | AD |
MTMR2 | 603557 | type 4B1 Charcot-Marie-Tooth disease | AR |
MUSK | 601296 | Fetal akinesia deformation sequence; myasthenic syndrome, congenital type 9, associated with acetylcholine receptor deficiency | AR |
MYBPC1 | 160794 | Arthrogryposis, distal, type 1B; Lethal congenital contracture syndrome 4 | AD, AR |
MYBPC3 | 600958 | familial hypertrophic cardiomyopathy 4; dilated cardiomyopathy-1MM | AD, AR |
MYH2 | 160740 | Inclusion body myopathy 3, autosomal dominant | AD, AR |
MYH3 | 160720 | distal arthrogryposis type 2A; Distal arthrogryposis type 2B3 (Sheldon-Hall) | AD, AR |
MYH7 | 160760 | Liang distal myopathy; Scapuloperoneal syndrome, myopathic type; familial hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myopathy, myosin storage, autosomal dominant; dilated cardiomyopathy-1S | AD, AR, DiD |
MYH8 | 160741 | distal arthrogryposis type 7; Carney complex variant | AD |
MYO18B | 607295 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | AR |
MYOT | 604103 | Myopathy, spheroid body; Myopathy, myofibrillar, 3; limb-girdle muscular dystrophy type 1A | AD |
MYPN | 608517 | dilated cardiomyopathy-1KK; Autosomal recessive Nemaline myopathy type 11 | AD, AR |
NALCN | 611549 | Hypotonia, infantile, with psychomotor retardation and characteristic facies; Congenital contractures of the limbs and face, hypotonia, and developmental delay | AD, AR |
NDRG1 | 605262 | type 4D Charcot-Marie-Tooth disease | AR |
NEB | 161650 | nemaline myopathy type 2 | AR |
NTRK1 | 191315 | hereditary sensory and autonomic neuropathy type 4 | AR |
OPA1 | 605290 | Optic atrophy plus syndrome; optic atrophy type 1; Behr syndrome; Glaucoma, normal tension, susceptibility to; Mitochondrial DNA depletion syndrome 14 | AD, AR |
OPA3 | 606580 | Optic atrophy type 3 with cataract; 3-methylglutaconic aciduria type III | AD, AR |
PDK3 | 300906 | type X6 Charcot-Marie-Tooth | XLD |
PFKM | 610681 | Glycogen storage disease type VII | AR |
PGAM2 | 612931 | Glycogen storage disease X | AR |
PGK1 | 311800 | Phosphoglycerate kinase 1 deficiency | XLR |
PGM1 | 171900 | congenital disorder of glycosylation type 1t | AR |
PHKA1 | 311870 | Muscle glycogenosis | XLR |
PIEZO2 | 613629 | Arthrogryposis, distal, type 5; Marden-Walker syndrome; Arthrogryposis, distal, with impaired proprioception and touch | AD, AR |
PLEC | 601282 | epidermolysis bullosa simplex, Ogna type; epidermolysis bullosa simplex with muscular dystrophy; epidermolysis bullosa simplex with pyloric atresia; limb-girdle muscular dystrophy type 2Q | AD, AR |
PLEKHG5 | 611101 | autosomal recessive distal spinal muscular atrophy type 4; recessive intermediate Charcot-Marie-Tooth disease type C | AR |
PLOD2 | 601865 | Bruck syndrome 2 | AR |
PMM2 | 601785 | congenital disorder of glycosylation type 1a | AR |
PMP22 | 601097 | type 1A Charcot-Marie-Tooth disease; Dejerine-Sottas syndrom; Neuropathy, recurrent, with pressure palsies | ?AD, AD, AR |
PNPLA2 | 609059 | Neutral lipid storage disease with myopathy | AR |
POLG | 174763 | progressive external ophthalmoplegia; mitochondrial DNA depletion syndrome type 4A; autosomal recessive progressive external ophthalmoplegia; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; mitochondrial DNA depletion syndrome type 4B | AD, AR |
POLG2 | 604983 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | AD, AR |
POMGNT1 | 606822 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B3; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C3; retinitis pigmentosa type 76 | AR |
POMGNT2 | 614828 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8 | AR |
POMK | 615247 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A12; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type C12 | AR |
POMT1 | 607423 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C1; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B1 | AR |
POMT2 | 607439 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C2 | AR |
PREPL | 609557 | congenital myasthenic syndrome type 22 | AR |
PRKAG2 | 602743 | Wolff-Parkinson-White syndrome; fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; familial hypertrophic cardiomyopathy 6 | AD |
PRPS1 | 311850 | Phosphoribosylpyrophosphate synthetase superactivity; Arts syndrome; deafness type 1; type X5 Charcot-Marie-Tooth | XL, XLR |
PRX | 605725 | Dejerine-Sottas syndrom; type 4F Charcot-Marie-Tooth disease | AD, AR |
PYGM | 608455 | glycogen storage disease type 5 | AR |
QARS1 | 603727 | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy | AR |
RAB7A | 602298 | type 2B Charcot-Marie-Tooth disease | AD |
RAPSN | 601592 | congenital myasthenic syndrome, type 11, associated with acetylcholine receptor deficiency | AR |
RBCK1 | 610924 | Polyglucosan body myopathy 1 with or without immunodeficiency | AR |
REEP1 | 609139 | spastic paraplegia 31; Neuronopathy, distal hereditary motor, type VB | AD |
RETREG1 | 613114 | hereditary sensory and autonomic neuropathy type IIB | AR |
RRM2B | 604712 | mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | AD, AR |
RXYLT1 | 605862 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A10 | AR |
RYR1 | 180901 | central core disease; malignant hyperthermia; minicore myopathy with external ophthalmoplegia | AD, AR |
SBF1 | 603560 | type 4B3 Charcot-Marie-Tooth disease | AR |
SBF2 | 607697 | type 4B2 Charcot-Marie-Tooth disease | AR |
SCN4A | 603967 | Paramyotonia congenita; Hyperkalemic periodic paralysis, type 2; Atypical myotonia congenita, acetazolamide-responsive; Hypokalemic periodic paralysis, type 2; Myasthenic syndrome, acetazolamide-responsive | AD, AR |
SELENON | 606210 | Myopathy, congenital, with fiber-type disproportion; rigid spine syndrome | AD, AR |
SGCA | 600119 | limb-girdle Muscular dystrophy type 3 | AR |
SGCB | 600900 | limb-girdle muscular dystrophy type 2E | AR |
SGCD | 601411 | limb-girdle muscular dystrophy type 2F; dilated cardiomyopathy-1L | AR |
SGCE | 604149 | myoclonus-dystonia | AD |
SGCG | 608896 | limb-girdle muscular dystrophy type 2C | AR |
SH3TC2 | 608206 | type 4C Charcot-Marie-Tooth disease; Mononeuropathy of the median nerve, mild | AD, AR |
SIL1 | 608005 | Marinesco-Sjogren syndrome | AR |
SLC12A6 | 604878 | Agenesis of the corpus callosum with peripheral neuropathy | AR |
SLC16A1 | 600682 | Monocarboxylate transporter 1 deficiency | AD, AR |
SLC22A5 | 603377 | systemic primary carnitine deficiency | AR |
SLC25A1 | 190315 | Combined D-2- and L-2-hydroxyglutaric aciduria | AR |
SLC25A20 | 613698 | Carnitine-acylcarnitine translocase deficiency | AR |
SLC25A46 | 610826 | Neuropathy, hereditary motor and sensory, type VIB | AR |
SLC5A7 | 608761 | Neuronopathy, distal hereditary motor, type VIIA; Myasthenic syndrome, congenital, 20, presynaptic | AD, AR |
SLC6A5 | 604159 | Hyperekplexia 3 | AD, AR |
SMCHD1 | 614982 | Fascioscapulohumeral muscular dystrophy 2, digenic | AD |
SMN1 | 600354 | spinal muscular atrophy type 1; spinal muscular atrophy type 3; spinal muscular atrophy type 2; spinal muscular atrophy type 4 | AR |
SMN2 | 601627 | spinal muscular atrophy type 3 | AR |
SPEG | 615950 | centronuclear myopathy type 5 | AR |
SPG11 | 610844 | Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X | AR |
SPTLC1 | 605712 | Neuropathy, hereditary sensory and autonomic, type IA | AD |
SPTLC2 | 605713 | Neuropathy, hereditary sensory and autonomic, type ic | AD |
SUCLA2 | 603921 | mitochondrial DNA depletion syndrome 5 | AR |
SYNE1 | 608441 | autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 | AD, AR |
SYNE2 | 608442 | Emery-Dreifuss muscular dystrophy 5 | AD |
TAZ | 300394 | Barth syndrome | XLR |
TCAP | 604488 | limb-girdle muscular dystrophy type 2G; cardiomyopathy, familial hypertrophic, 25 | AD, AR |
TFG | 602498 | Hereditary motor and sensory neuropathy, Okinawa type; spastic paraplegia 57 | AD, AR |
TGFB3 | 190230 | Arrhythmogenic right ventricular dysplasia 1; Loeys-Dietz syndrome 5 | AD |
TK2 | 188250 | mitochondrial DNA depletion syndrome 2 | AR |
TMEM43 | 612048 | arrhythmogenic right ventricular dysplasia 5 | AD |
TNNI2 | 191043 | distal arthrogryposis type 2B | AD |
TNNT1 | 191041 | Nemaline myopathy 5, Amish type | AR |
TNNT3 | 600692 | AD | |
TNPO3 | 610032 | limb-girdle muscular dystrophy type 1F | AD |
TOR1A | 605204 | dystonia 1 | AD |
TPM2 | 190990 | Nemaline myopathy type 4, autosomal dominant | AD |
TPM3 | 191030 | Myopathy, congenital, with fiber-type disproportion; Nemaline myopathy 1, autosomal dominant or recessive | AD, AR |
TRAPPC11 | 614138 | limb-girdle muscular dystrophy type 2S | AR |
TRIM2 | 614141 | type 2R Charcot-Marie-Tooth disease | AR |
TRIM32 | 602290 | limb-girdle muscular dystrophy type 2H; Bardet-Biedl syndrome 11 | AR |
TRPV4 | 605427 | Brachyolmia type 3; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type; Hereditary motor and sensory neuropathy, type IIc | AD |
TSEN2 | 608753 | pontocerebellar hypoplasia type 2B | AR |
TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
TTN | 188840 | Tibial muscular dystrophy, tardive; Hereditary myopathy with early respiratory failure; dilated cardiomyopathy type 1G; limb-girdle muscular dystrophy type 2J; early-onset myopathy with fatal cardiomyopathy; familial hypertrophic cardiomyopathy type 9 | AD, AR |
TWNK | 606075 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3 | AD, AR |
TYMP | 131222 | mitochondrial DNA depletion syndrome 1 | AR |
UBA1 | 314370 | X-linked infantile spinal muscular atrophy type 2 | XLR |
VAMP1 | 185880 | Spastic ataxia 1, autosomal dominant; Myasthenic syndrome, congenital, 25 | AD, AR |
VAPB | 605704 | Finkel type late-onset spinal muscular atrophy; amyotrophic lateral sclerosis 8 | AD |
VCP | 601023 | inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; amyotrophic lateral sclerosis 14; Charcot-Marie-Tooth disease type 2Y | AD |
VIPAS39 | 613401 | Arthrogryposis, renal dysfunction, and cholestasis 2 | AR |
VRK1 | 602168 | pontocerebellar hypoplasia type 1A | AR |
WNK1 | 605232 | Neuropathy, hereditary sensory and autonomic, type II; Pseudohypoaldosteronism, type IIC | AD, AR |
XK | 314850 | Mcleod syndrome | XL |
YARS1 | 603623 | intermediate type C Charcot-Marie-Tooth | AD |
Common syndromes and disorders covered
Arthrogryposis
Bethlem myopathy
Charcot–Marie–Tooth disease
Congenital myasthenic syndrome
Congenital myopathy
Dejerine-Sottas syndrome
Hyperekplexia
Hypotonia
Malignant hyperthermia
Metabolic myopathies
Muscular dystrophy
Muscular dystrophy-dystroglycanopathy type A
Myofibrillar myopathy
Myopathy-rhabdomyolysis syndrome
Nemaline myopathy
Non-dystrophic myotonia congenita
Ullrich muscular dystrophy
Parkinson disease panel
Our Parkinson disease (PD) panel identifies all relevant pathophysiologically genetic variants for the development and treatment of PD. Characteristic features of PD include neuronal loss in specific areas of the substantia nigra and widespread intracellular protein α-synuclein accumulation. The disease is characterized by three core motor symptoms: tremor, muscle rigidity, and bradykinesia.
No. of genes: | 37 |
TAT: | 25 days |
Coverage: | ≥99.5% ≥20x |
Details: | CNV analysis included |
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
ATP13A2 | 610513 | Kufor-Rakeb syndrome; spastic paraplegia type 78 | AR |
ATP1A3 | 182350 | Dystonia 12; Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; Alternating hemiplegia of childhood 2 | AD |
ATP6AP2 | 300556 | syndromic mental retardation, Hedera type | XLR |
ATP7B | 606882 | Wilson disease | AR |
C19orf12 | 614297 | neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 | AD, AR |
DCTN1 | 601143 | amyotrophic lateral sclerosis 1; Perry syndrome; Neuronopathy, Distal Hereditary Motor, Type Viib | AD, AR |
DNAJC6 | 608375 | Parkinson disease 19, juvenile-onset | AR |
FBXO7 | 605648 | Parkinson disease 15, autosomal recessive | AR |
FTL | 134790 | Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 | AD, AR |
FUS | 137070 | amyotrophic lateral sclerosis 6; Tremor, hereditary essential, 4 | AD |
GBA | 606463 | Lewy body dementia; Susceptibility to late-onset Parkinson disease; Gaucher disease type 1; Gaucher disease type 2 (acute); Gaucher disease type 3 (subacute/ chronic); Gaucher disease, cardiovascular form; Gaucher disease, perinatal-lethal form | AD, AR |
GCH1 | 600225 | dopa-responsive dystonia; Hyperphenylalaninemia, BH4-deficient, B | AD, AR |
GRN | 138945 | frontotemporal lobar degeneration with ubiquitin-positive inclusions; neuronal ceroid lipofuscinosis type 11 | AD, AR |
HTRA2 | 606441 | Parkinson disease 13; 3-methylglutaconic aciduria, type VIII | AR |
LRRK2 | 609007 | Parkinson disease 8 | AD |
MAPT | 157140 | Susceptibility to late-onset Parkinson disease; Pick disease; Dementia, frontotemporal | AD, AR |
PANK2 | 606157 | neurodegeneration with brain iron accumulation type 1; HARP syndrome | AR |
PARK7 | 602533 | Parkinson disease 7 | AR |
PINK1 | 608309 | Parkinson disease 6 | AR |
PLA2G6 | 603604 | infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 | AR |
PRKN | 602544 | Ovarian Cancer; Lung Cancer; Parkinson disease 2 | AR |
PRKRA | 603424 | dystonia 16 | AR |
RAB39B | 300774 | mental retardation 72 | XLR |
SLC20A2 | 158378 | Basal ganglia calcification, idiopathic, 1 | AD |
SLC30A10 | 611146 | Hypermanganesemia with dystonia, polycythemia, and cirrhosis | AR |
SLC6A3 | 126455 | Tobacco Addiction, Susceptibility To; Parkinsonism-dystonia, infantile | AR |
SNCA | 163890 | Lewy body dementia; Parkinson disease 1 | AD |
SNCB | 602569 | Lewy body dementia | AD |
SPR | 182125 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
SYNJ1 | 604297 | Parkinson disease 20, early-onset; early infantile epileptic encephalopathy type 53 | AR |
TH | 191290 | Segawa syndrome | AR |
TMEM230 | 617019 | ||
UCHL1 | 191342 | Parkinson disease 5, autosomal dominant; autosomal recessive spastic paraplegia type 79 | AD, AR |
VPS13A | 605978 | Choreoacanthocytosis | AR |
VPS35 | 601501 | Parkinson disease 17 | AD |
WDR45 | 300526 | neurodegeneration with brain iron accumulation 5 | XLD |
Common syndromes and disorders covered
Parkinson disease
Spastic paraplegia panel
Our spastic paraplegia panel is recommended for patients displaying spastic gait impairment, spastic weakness, and hyperreflexia. Our panel screens for recessive, dominant, and x-linked forms of hereditary spastic paraplegia (HSP) which can not be distinguished by clinical and neuroimaging parameters alone. For patients that also show complex HSP and display other neurological signs including ataxia, intellectual disability, dementia, extrapyramidal signs, visual dysfunction, or epilepsy, we recommend CentoNeuro™.
No. of genes: | 65 |
TAT: | 25 days |
Coverage: | ≥99.5% ≥20x |
Details: | CNV analysis included |
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
ABCD1 | 300371 | adrenoleukodystrophy | XLR |
ALDH18A1 | 138250 | Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 | AD, AR |
ALS2 | 606352 | amyotrophic lateral sclerosis 2; Spastic paralysis, infantile onset ascending | AR |
AMPD2 | 102771 | pontocerebellar hypoplasia 9 | AR |
AP4B1 | 607245 | spastic paraplegia 47 | AR |
AP4E1 | 607244 | spastic paraplegia 51 | AD, AR |
AP4M1 | 602296 | autosomal recessive spastic paraplegia type 50 | AR |
AP4S1 | 607243 | spastic paraplegia 52 | AR |
AP5Z1 | 613653 | spastic paraplegia 48 | AR |
ARL6IP1 | 607669 | spastic paraplegia 61 | AR |
ATL1 | 606439 | spastic paraplegia 3A | AD |
ATP13A2 | 610513 | Kufor-Rakeb syndrome; spastic paraplegia type 78 | AR |
B4GALNT1 | 601873 | spastic paraplegia 26 | AR |
BICD2 | 609797 | autosomal dominant lower extremity-predominant spinal muscular atrophy type 2 | AD |
BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy, progressive, with or without lipodystrophy | AD, AR |
C12orf65 | 613541 | Combined oxidative phosphorylation deficiency 7 | AR |
C19orf12 | 614297 | neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 | AD, AR |
CCT5 | 610150 | Neuropathy, hereditary sensory, with spastic paraplegia | AR |
CYP2U1 | 610670 | spastic paraplegia 56 | AR |
CYP7B1 | 603711 | spastic paraplegia 5A | AR |
DDHD1 | 614603 | spastic paraplegia 28 | AR |
DDHD2 | 615003 | spastic paraplegia 54 | AR |
ENTPD1 | 601752 | spastic paraplegia 64 | AR |
ERLIN1 | 611604 | spastic paraplegia 62 | AR |
ERLIN2 | 611605 | spastic paraplegia 18 | AR |
EXOSC3 | 606489 | pontocerebellar hypoplasia type 1B | AR |
FA2H | 611026 | spastic paraplegia 35 | AR |
FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14; spastic paraplegia type 77 | AR |
GBA2 | 609471 | spastic paraplegia 46 | AR |
GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2; spastic paraplegia 44 | AD, AR |
HSPD1 | 118190 | spastic paraplegia 13; hypomyelinating leukodystrophy-4 | AD, AR |
IBA57 | 615316 | Multiple mitochondrial dysfunctions syndrome 3 | AR |
KDM5C | 314690 | syndromic mental retardation - Claes-Jensen type | XLR |
KIF1A | 601255 | spastic paraplegia 30; Neuropathy, hereditary sensory, type IIC; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 | AD, AR |
KIF1C | 603060 | Spastic ataxia 2, autosomal recessive | AR |
KIF5A | 602821 | spastic paraplegia 10; Neonatal intractable myoclonus | AD |
L1CAM | 308840 | spastic paraplegia type 1; partial agenesis of the corpus callosum; hydrocephalus with stenosis of the aqueduct of Sylvius | XLR |
MAG | 159460 | Spastic paraplegia 75, autosomal recessive | AR |
MARS1 | 156560 | Interstitial lung and liver disease; type 2U Charcot-Marie-Tooth disease | AD, AR |
NIPA1 | 608145 | spastic paraplegia type 6 | AD |
NT5C2 | 600417 | spastic paraplegia 45 | AR |
PGAP1 | 611655 | mental retardation 42 | AR |
PLP1 | 300401 | Pelizaeus-Merzbacher disease; spastic paraplegia 2 | XLR |
PNPLA6 | 603197 | Boucher-Neuhauser syndrome; spastic paraplegia 39 | AR |
RAB3GAP2 | 609275 | Martsolf syndrome; Warburg micro syndrome 2 | AR |
REEP1 | 609139 | spastic paraplegia 31; Neuronopathy, distal hereditary motor, type VB | AD |
REEP2 | 609347 | spastic paraplegia 72 | AD, AR |
RTN2 | 603183 | spastic paraplegia 12 | AD |
SACS | 604490 | spastic ataxia of Charlevoix-Saguenay | AR |
SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
SLC33A1 | 603690 | spastic paraplegia 42; Congenital cataracts, hearing loss, and neurodegeneration | AD, AR |
SPART | 607111 | spastic paraplegia 20 | AR |
SPAST | 604277 | spastic paraplegia-4 | AD |
SPG11 | 610844 | Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X | AR |
SPG21 | 608181 | spastic paraplegia type 21 | AR |
SPG7 | 602783 | spastic paraplegia 7 | AD, AR |
TECPR2 | 615000 | spastic paraplegia type 49 | AR |
TFG | 602498 | Hereditary motor and sensory neuropathy, Okinawa type; spastic paraplegia 57 | AD, AR |
TTR | 176300 | familial transthyretin amyloidosis | AD |
USP8 | 603158 | Pituitary adenoma, ACTH-secreting; Pituitary adenoma 4, ACTH-secreting, somatic | |
VAMP1 | 185880 | Spastic ataxia 1, autosomal dominant; Myasthenic syndrome, congenital, 25 | AD, AR |
VPS37A | 609927 | spastic paraplegia 53 | AR |
WASHC5 | 610657 | Ritscher-Schinzel syndrome; spastic paraplegia 8 | AD, AR |
ZFYVE26 | 612012 | spastic paraplegia type 15 | AR |
ZFYVE27 | 610243 | spastic paraplegia 33 | AD |