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Publications about genetic testing for neurological disorders
  1. NGS Panel – Genetic Testing for Childhood Absence Epilepsy

Childhood Absence Epilepsy

July 28, 2017

Disease synonyms

Pyknolepsy


Inheritance pattern

Autosomal dominant


Clinical features

Childhood absence epilepsy (CAE) is a form of hereditary pediatric epilepsy, characterized by very frequent absence seizures. This formusually soccurs in children between the ages of 4 and 10 years and in most cases has a good prognosis. CAE accounts for 10-17% 1, 4 of all cases of epilepsy diagnosed in school-aged children 1 and its incidence has been estimated at 1-8 per 100,000 2, 3. Females are usually more affected than males, representing 60-76% of patients 4.

Childhood absence epilepsy is characterized by frequent absence seizures with abrupt onset and offset. Photosensitivity is reported in 18% of CAE patients. In rare cases CAE is also associated with increased rates of adverse behavioral, psychiatric, language, and subtle cognitive changes, including attention deficit hyperactivity disorder (ADHD), anxiety, and depression.

The main clinical characteristics of absence childhood epilepsy include the following 5:

  • Onset in children of school age (peak manifestation 6–7 years)
  • Very frequent (multiple per day) absences
  • EEG with bilateral, synchronous, symmetrical spike-waves, usually at 3 Hz
  • Development of generalized tonic-clonic seizures occurring during adolescence.

Absence seizures are brief, most commonly lasting 5-10 seconds with an abrupt start and end. They occur frequently, 10-100 times a day 5. Seizures occur spontaneously but may be precipitated by multiple factors, including emotional, intellectual, or metabolic. The main feature of absence seizures is loss of responsiveness with cessation of ongoing activity.

Depending on the associated symptoms, following types of absence seizures can be identified 5:

  • Simple absence, manifesting only as impaired consciousness (10%)
  • Absence with mild clonic components, usually involving the eyelids (50%)
  • Absence with atonic components, resulting in gradual lowering of the head or arms (20%)
  • Absence with tonic components (rotating the eyes upwards)
  • Absence with automatisms that are either perseverative (i.e., the patient persists in what he is doing) or de novo, such as lip smacking or swallowing (60%)
  • Absence with autonomic components (e.g., pupillary dilatation, flushing, tachycardia).

Childhood absence epilepsy is genetically determined, and mutations in several genes have been reported so far (Table):

  • The CACNA1H gene encodes voltage-entdependent calcium channel expressed in neurons. Mutations in CACNA1H have been reported in childhood absence epilepsy (16/49), idiopathic generalized epilepsy (10/49), hyperaldosteronism (2/49), and other conditions, mostly characterized with seizures (HGMD® Professional 2017.1). Missense mutations in CACNA1H have recently been associated with amyotrophic lateral sclerosis 6.
  • The GABRA1 gene encodes GABA receptor protein, thus participating in neuronal membrane activity. Therehave been 35 mutations reported in this gene so far (HGMD® Professional 2017.1), reported as disease-causing for epileptic encephalopathy (10/35), Dravet syndrome (3/35), early infantile epileptic encephalopathy (2/35), childhood absence epilepsy (1/35), and other epilepsy-related phenotypes. Small deletion c.975delC was reported in a family affected with childhood absence epilepsy 7.
  • GABRB3 also encodes the GABA receptor protein, and 50 different variants have been reported in this gene so far, in association with autism spectrum disorders (18/50), epileptic encephalopathy (15/50), childhood absence epilepsy (1/50) and other epilepsy-related conditions (HGMD® Professional 2017.1).
  • The GABRG2 gene encodes additional GABA receptor protein, and so far the mutations in this gene have been associated primarily with generalized epilepsy with febrile seizures (7/26). Mutations in GABRG2 have also been associated with Rolandic epilepsy (2/26), childhood absence epilepsy (2/26), generalized epilepsy (2/26), and others.
  • Missense mutation c.1367C>T, p.T456MJRK reported in the JRK gene was associated with childhood absence epilepsy that evolved to juvenile myoclonic epilepsy 8.
  • The SLC2A1 gene encodes glucose transporter 1 expressed in brain, placenta, and erythrocytes. Mutations in this gene have been associated with GLUT 1 deficiency syndrome (203/253), absence epilepsy (10/253), idiopathic generalized epilepsy (9/253), intellectual disability (4/2539 and other conditions. Heterozygous SLC2A1 pathogenic variants (p.Arg212Cys and p.Arg126Cys) have been reported as disease-causing in patients affected with dystonia 9 9.

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

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

Treatment of CAE involves the use of antiepileptic drugs such as ethosuximide, valproate, and lamotrigine. However, lack of response is common. An alternative choice for patients with CAE and photosensitivity could be the drugs levetiracetam or topiramate.


Differential diagnosis

The differential diagnosis of childhood absence epilepsy-related disorders – depending on the major symptoms in the initial case – includes the following diseases:

  • Epilepsy with myoclonic absences
  • Jeavons syndrome
  • Juvenile absence epilepsy
  • Perioral myoclonia with absences
  • Juvenile myoclonic epilepsy
  • Encephalopathy due to GLUT1 deficiency
  • Absence seizures associated with chromosomal anomalies (ring chromosome 20, 15q13.3 microdeletion syndrome).

Testing strategy

CENTOGENE offers an advanced, fast and cost-effective strategy to test large NGS panels and diagnose complex phenotypes based on PCR-free whole genome sequencing and NGS technology. This approach offers an unparalleled advantage by reducing amplification/capture biases and providing sequencing of the entire gene with more uniform coverage.

To confirm/establish the diagnosis, CENTOGENE offers the following testing strategy for childhood absence epilepsy using NGS Panel Genomic targeted towards this specific phenotype:

Step 1: Whole genome sequencing from a single filter card. The sequencing covers the entire gene (coding region, exon/intron boundaries, intronic and promoter) for all the genes included in the Childhood absence epilepsy panel. Copy Number Variants analysis derived from NGS data is also included.

Step 2: If no mutation is identified after analysis of the Childhood absence epilepsy panel, we further recommend continuing the bioinformatics analysis of the data using whole genome sequencing to cover those genes which are either implicated in an overlapping phenotype or could be involved in a similar pathway but are not strongly clinically implicated based on the current information in literature.


Referral reasons

The following individuals are candidates for childhood absence epilepsy gene testing:

  • Individuals with a family history of childhood absence epilepsy and presentation of the most common symptoms
  • Individuals without a positive family history, but with symptoms resembling childhood absence epilepsy
  • Individuals with a negative but suspected family history, in order to perform proper genetic counseling (prenatal analyses are recommended in families with affected individuals).

Test utility

Sequencing, deletion/duplication of childhood absence epilepsy related genes should be performed in all individuals suspected of having this particular phenotype. In parallel, other genes reported to be related with childhood absence epilepsy should also be analyzed for the presence of mutations, due to the overlap in many clinical features caused by those particular genes.

Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of childhood absence epilepsy, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.