PTC Seizure Seq Panel
Panel Content
The panel is based on the Comprehensive Epilepsy Panel with 194 additional genes included. Please see the full list of genes and noncoding variants below.
Genes included in the PTC Seizure Seq Panel:
Gene | Associated phenotypes | Inheritance | ClinVar | HGMD |
AARS | Epileptic encephalopathy, early infantile, Charcot-Marie-Tooth disease | AD/AR | 9 | 16 |
ABAT | GABA-transaminase deficiency | AR | 11 | 12 |
ABCA2 | Intellectual disability and seizures | AR | 4 | |
ABCD1* | Adrenoleukodystrophy | XL | 95 | 663 |
ACAD9 | Acyl-CoA dehydrogenase family, deficiency | AR | 26 | 61 |
ACTB* | Baraitser-Winter syndrome | AD | 55 | 60 |
ACTL6B | Epilepitic encephalopathy | AD/AR | 1 | 3 |
ACY1 | Aminoacylase 1 deficiency | AR | 5 | 14 |
ADAM22 | Early infantile epileptic encephalopathy | AR | 2 | 3 |
ADAR | Dyschromatosis symmetrica hereditaria, Aicardi-Goutières syndrome | AD/AR | 25 | 226 |
ADNP | Helsmoortel-van der Aa syndrome (Mental retardation, autosomal dominant 28) | AD | 44 | 66 |
ADPRHL2 | Neurodegeneration, childhood-onset, with brain atrophy | AR | 1 | |
ADSL | Adenylosuccinase deficiency | AR | 24 | 57 |
AFF2 | Premature ovarian failure, Mental retardation, X-linked, FRAXE type | XL | 6 | 25 |
AFG3L2* | Spastic ataxia, Spinocerebellar ataxia | AD/AR | 22 | 40 |
AGA | Aspartylglucosaminuria | AR | 48 | 37 |
AGK* | Sengers syndrome, Cataract 38 | AR | 18 | 27 |
AIFM1 | Deafness, Combined oxidative phosphorylation deficiency 6, Cowchock syndrome | XL | 27 | 31 |
AIMP1 | Leukodystrophy, hypomyelinating | AR | 4 | 5 |
ALDH3A2 | Sjogren-Larsson syndrome | AR | 74 | 111 |
ALDH5A1 | Succinic semialdehyde dehydrogenase deficiency | AR | 16 | 70 |
ALDH7A1 | Epilepsy, pyridoxine-dependent | AR | 52 | 123 |
ALG13 | Congenital disorder of glycosylation | XL | 5 | 12 |
ALG6 | Congenital disorder of glycosylation | AR | 28 | 24 |
ALKBH8 | Intellectual disability, autosomal recessive | AR | ||
AMACR | Alpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defect | AR | 3 | 8 |
AMT | Glycine encephalopathy | AR | 42 | 95 |
ANKRD11* | KBG syndrome | AD | 142 | 132 |
AP1S2 | Mental retardation, syndromic, Fried (Pettigrew syndrome) | XL | 11 | 12 |
AP2M1 | Epilepitic encephalopathy | AD | ||
AP3B2 | Epileptic encephalopathy, early infantile, 48 | 6 | 12 | |
AP4B1 | Spastic paraplegia 47, autosomal recessive | AR | 17 | 18 |
AP4E1 | Stuttering, familial persistent, 1, Spastic paraplegia 51, autosomal recessive | AD/AR | 7 | 15 |
AP4M1 | Spastic paraplegia 50, autosomal recessive | AR | 16 | 13 |
AP4S1#* | Spastic paraplegia 52, autosomal recessive | AR | 9 | 8 |
APOPT1 | Mitochondrial complex IV deficiency | AR | 4 | 5 |
APTX | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR | 14 | 46 |
ARFGEF2 | Heterotopia, periventricular | AR | 7 | 1 |
ARG1 | Hyperargininemia | AR | 28 | 54 |
ARHGEF6 | Mental retardation | XL | 2 | 5 |
ARHGEF9 | Epileptic encephalopathy, early infantile | XL | 10 | 23 |
ARID1B | Coffin-Siris syndrome, Mental retardation | AD | 153 | 185 |
ARSA | Metachromatic leukodystrophy | AR | 113 | 246 |
ARV1# | Epileptic encephalopathy, early infantile, 38 | 2 | 3 | |
ARX# | Lissencephaly, Epileptic encephalopathy, Corpus callosum, agenesis of, with abnormal genitalia, Partington syndrome, Proud syndrome, Hydranencephaly with abnormal genitalia, Mental retardation | XL | 66 | 93 |
ASAH1 | Spinal muscular atrophy with progressive myoclonic epilepsy, Farber lipogranulomatosis | AR | 16 | 71 |
ASNS* | Asparagine synthetase deficiency | AR | 21 | 26 |
ASPA | Aspartoacylase deficiency (Canavan disease) | AR | 54 | 102 |
ASXL3 | Bainbridge-Ropers syndrome | AD | 45 | 49 |
ATAD1* | 3 | 3 | ||
ATP13A2 | Parkinson disease (Kufor-Rakeb syndrome) | AR | 21 | 40 |
ATP1A1 | Charcot-Marie-Tooth disease | AD | 8 | 10 |
ATP1A2 | Migraine, familial hemiplegic, Alternating hemiplegia of childhood, Migraine, familial hemiplegic, 2, Migraine, familial basilar | AD/AR | 36 | 96 |
ATP1A3 | Alternating hemiplegia of childhood, Dystonia 12 | AD | 79 | 112 |
ATP6AP2 | Mental retardation, syndromic, Hedera, Parkinsonism with spasticity | XL | 3 | 6 |
ATP6V1A | Cutis laxa, autosomal recessive, type IID, Epileptic encephalopathy | AD/AR | 8 | 8 |
ATRX | Carpenter-Waziri syndrome, Alpha-thalassemia/mental retardation syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, Mental retardation-hypotonic facies syndrome | XL | 65 | 165 |
AUH | 3-methylglutaconic aciduria | AR | 12 | 11 |
B3GALNT2# | Muscular dystrophy-dystroglycanopathy | AR | 18 | 14 |
BCKDK | Branched-chain ketoacid dehydrogenase kinase deficiency | AR | 4 | 5 |
BCS1L | Bjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1 | AR | 42 | 37 |
BOLA3 | Multiple mitochondrial dysfunctions syndrome 2 | AR | 3 | 6 |
BRAT1 | Rigidity and multifocal seizure syndrome, lethal neonatal | AR | 19 | 18 |
BRWD3 | Mental retardation | XL | 9 | 17 |
BTD | Biotinidase deficiency | AR | 170 | 247 |
C10ORF2 | Perrault syndrome, Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 | AD/AR | 37 | 80 |
C12ORF4 | Developmental delay and seizures with or without movement abnormalities (DEDSM) | AR | 1 | 5 |
C12ORF57 | Corpus callosum hypoplasia, recessive, Temtamy syndrome | AR | 7 | 6 |
C12ORF65 | Spastic paraplegia, Combined oxidative phosphorylation deficiency | AR | 10 | 11 |
CACNA1A | Migraine, familial hemiplegic, Episodic ataxia, Spinocerebellar ataxia 6, Epileptic encephalopathy, early infantile, 42 | AD | 135 | 230 |
CACNA1B | Dystonia 23, Early infantile epileptic encephalopathy | AD/AR | 28 | 3 |
CACNA1D | Primary aldosteronism, seizures, and neurologic abnormalities, Sinoatrial node dysfunction and deafness | AD/AR | 7 | 8 |
CACNA1E | Epileptic encephalopathy | AD | 8 | 6 |
CACNA1G | Spinocerebellar ataxia 42 | 8 | 11 | |
CACNA1H | Childhood absence epilepsy | AD | 9 | 55 |
CACNA2D2 | Early infantile epileptic encephalopathy, High voltage gated calcium channelopathy-related, autosomal recessive | AR | 5 | 5 |
CACNB4 | Episodic ataxia, Epilepsy, idiopathic generalized, susceptibility to, 9 | AD | 2 | 7 |
CAD | Epileptic encephalopathy, early infantile, 50 (Congenital disorder of glycosylation, type Iz) | AR | 8 | 10 |
CAMK2B | Neurodevelopmental disorder | 7 | 9 | |
CARS2 | Combined oxidative phosphorylation deficiency 27 | AR | 6 | 4 |
CASK | Mental retardation and microcephaly with pontine and cerebellar hypoplasia, FG syndrome, Mental retardation | XL | 87 | 112 |
CASR | Hypocalcemia, Neonatal hyperparathyroidism, Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism | AD/AR | 104 | 396 |
CC2D1A | Mental retardation, autosomal recessive 3 | AR | 3 | 7 |
CCM2 | Cerebral cavernous malformations | AD | 29 | 85 |
CDK9 | AR | 1 | ||
CDKL5 | Epileptic encephalopathy, early infantile, Rett syndrome, atypical, Angelman-like syndrome | XL | 312 | 331 |
CDON | Holoprosencephaly | AD | 7 | 10 |
CERS1# | Epilepsy, progressive myoclonic | AR | 11 | 1 |
CHD2 | Epileptic encephalopathy, childhood-onset | AD | 85 | 59 |
CHD8 | Autism | AD | 41 | 66 |
CHRNA2 | Epilepsy, nocturnal frontal lobe | AD | 3 | 7 |
CHRNA4 | Epilepsy, nocturnal frontal lobe | AD | 8 | 18 |
CHRNB2 | Epilepsy, nocturnal frontal lobe | AD | 9 | 13 |
CIT | Microcephaly 17, primary, autosomal recessive | AR | 9 | 14 |
CLCN2 | Leukoencephalopathy with ataxia, Epilepsy | AD/AR | 30 | 36 |
CLCN4 | Mental retardation, X-linked 49 | XL | 21 | 17 |
CLN3 | Neuronal ceroid lipofuscinosis, type 3 | AR | 100 | 72 |
CLN5 | Neuronal ceroid lipofuscinosis, type 5 | AR | 62 | 47 |
CLN6 | Neuronal ceroid lipofuscinosis, type 6 | AR | 41 | 83 |
CLN8 | Neuronal ceroid lipofuscinosis, type 8 | AR | 45 | 44 |
CLPB | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) | AR | 26 | 25 |
CLTC | AD | 20 | 14 | |
CNKSR2 | Epileptic encephalopathy, X-linked mental retardation, Epilepsy and X-linked mental retardation | XL | 7 | 6 |
CNOT3 | CNOT3 | AD | 1 | 8 |
CNPY3 | Epileptic encephalopathy | AR | 3 | 3 |
CNTN6 | Developmental delay and seizures with or without movement abnormalities (DEDSM) | AD | 2 | 41 |
CNTNAP2 | Pitt-Hopkins like syndrome, Cortical dysplasia-focal epilepsy syndrome | AR | 45 | 71 |
COA7 | Spinocerebellar ataxia, Charcot-Marie-Tooth disease | AR | 2 | 7 |
COL4A1 | Schizencephaly, Anterior segment dysgenesis with cerebral involvement, Retinal artery tortuosity, Porencephaly, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Brain small vessel disease | AD | 58 | 107 |
COL4A2 | Hemorrhage, intracerebral | AD | 14 | 12 |
COL4A3BP | Mental retardation, autosomal dominant 34 | AD | 6 | 7 |
COQ2 | Coenzyme Q10 deficiency | AR | 16 | 31 |
COQ4 | Coenzyme Q10 deficiency 7 | AR | 14 | 13 |
COQ9 | Coenzyme Q10 deficiency | AR | 2 | 5 |
COX10* | Leigh syndrome, Mitochondrial complex IV deficiency | AR | 52 | 13 |
COX15 | Leigh syndrome, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | AR | 7 | 5 |
COX6B1 | Mitochondrial complex IV deficiency | AR | 2 | 3 |
COX8A | Mitochondrial complex IV deficiency | |||
CPA6 | Febrile seizures, familial, 11 Epilepsy, familial temporal lobe, 5 |
AD/AR | 3 | 10 |
CPLX1 | 3 | 3 | ||
CPT2 | Carnitine palmitoyltransferase II deficiency | AR | 72 | 111 |
CRADD | Mental retardation, autosomal recessive 34, with variant lissencephaly | AR | 4 | 6 |
CSF1R | Leukoencephalopathy, diffuse hereditary, with spheroids | AD | 56 | 83 |
CSNK2B | Intellectual disability and seizures | AD | 7 | 5 |
CSTB | Epilepsy, progressive myoclonic | AR | 19 | 15 |
CTC1 | Cerebroretinal microangiopathy with calcifications and cysts | AR | 21 | 33 |
CTNND2 | Developmental delay and seizures with or without movement abnormalities (DEDSM) | AD | 7 | 35 |
CTSD | Ceroid lipofuscinosis, neuronal | AR | 12 | 18 |
CTSF | Neuronal ceroid lipofuscinosis | AR | 8 | 11 |
CUL4B | Mental retardation, syndromic, Cabezas | XL | 23 | 38 |
CUX2 | 2 | 2 | ||
CYFIP2 | Early infantile epileptic encephalopathy, Epilepsy | AD | 2 | 3 |
CYP27A1 | Cerebrotendinous xanthomatosis | AR | 69 | 110 |
D2HGDH | D-2-hydroxyglutaric aciduria 1 | AR | 13 | 33 |
DARS | Hypomyelination with brainstem and spinal cord involvement and leg spasticity | AR | 11 | 17 |
DARS2 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR | 27 | 61 |
DCX | Lissencephaly, Subcortical laminal heterotopia | XL | 131 | 142 |
DDC | Aromatic l-amino acid decarboxylase deficiency | AR | 14 | 51 |
DDX3X | Mental retardation, X-linked 102 | XL | 84 | 51 |
DEAF1 | Mental retardation, autosomal dominant 24, Dyskinesia, seizures, and intellectual development disorder | AD | 13 | 17 |
DEGS1# | Leukodystrophy, hypomyelinating | AR | ||
DENND5A | Epileptic encephalopathy, early infantile, 49 | AR | 6 | 6 |
DEPDC5 | Epilepsy, familial focal, with variable foci | AD | 87 | 78 |
DGUOK | Mitochondrial DNA depletion syndrome, Portal hypertension, noncirrhotic, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | AR | 23 | 62 |
DHCR7 | Smith-Lemli-Opitz syndrome | AR | 88 | 217 |
DHDDS | Retinitis pigmentosa, Developmental delay and seizures with or without movement abnormalities (DEDSM) | AD/AR | 5 | 8 |
DHFR* | Megaloblastic anemia due to dihydrofolate reductase deficiency | AR | 2 | 5 |
DHPS# | AR | |||
DIAPH1 | Seizures, cortical blindness, and microcephaly syndrome (SCBMS), Deafness, autosomal dominant 1 | AD/AR | 10 | 15 |
DLAT | DLAT Pyruvate dehydrogenase E2 deficiency | AR | ||
DLD | Dihydrolipoyl dehydrogenase deficiency | AR | 36 | 21 |
DLG3 | Mental retardation | XL | 11 | 17 |
DMXL2 | Deafness, autosomal dominant, 71, Polyendocrine-polyneuropathy syndrome, Epileptic encephalopathy, early infantile | AD/AR | 2 | 6 |
DNAJC5 | Kufs disease,, Ceroid lipofuscinosis, neuronal 4, Parry | AD | 2 | 2 |
DNM1* | Epileptic encephalopathy, early infantile | AD | 28 | 24 |
DNM1L | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | AD/AR | 17 | 20 |
DNMT3A | Tatton-Brown-Rahman syndrome | AD | 41 | 48 |
DOCK7 | Epilepitic encephalopathy | AR | 21 | 7 |
DOLK | Congenital disorder of glycosylation | AR | 8 | 11 |
DPAGT1 | Congenital disorder of glycosylation, Myasthenic syndrome, congenital | AR | 16 | 32 |
DPM1 | Congenital disorder of glycosylation | AR | 9 | 8 |
DPM2 | Congenital disorder of glycosylation | AR | 2 | 2 |
DPYD | 5-fluorouracil toxicity, Developmental delay with or without dysmorphic facies and autism | AD/AR | 62 | 86 |
DPYS | Dihydropyriminidase deficiency | AR | 8 | 29 |
DYNC1H1 | Spinal muscular atrophy, Charcot-Marie-Tooth disease, Mental retardation | AD | 60 | 71 |
DYRK1A | Mental retardation | AD | 94 | 77 |
EARS2 | Combined oxidative phosphorylation deficiency | AR | 14 | 30 |
ECHS1 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | AR | 23 | 33 |
ECM1 | Lipoid proteinosis | AR | 13 | 61 |
EED | Cohen-Gibson syndrome | AD | 5 | 8 |
EEF1A2 | Epileptic encephalopathy, early infantile, Mental retardation | AD | 17 | 12 |
EFHC1 | Epilepsy, myoclonic juvenile, Epilepsy, severe intractable, Epilepsy, juvenile absence | AD/AR | 5 | 38 |
EHMT1 | Kleefstra syndrome | AD | 86 | 89 |
EIF2B1 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy | AD/AR | 7 | 9 |
EIF2B2 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy | AR | 12 | 28 |
EIF2B3 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy | AR | 6 | 22 |
EIF2B4 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy | AR | 8 | 30 |
EIF2B5 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy | AR | 20 | 98 |
EIF3F | Intellectual disability, autosomal recessive | AR | ||
ELMO2* | Vascular malformation, primary intraosseus | AR | 3 | 5 |
EML1 | Band heterotopia | AR | 7 | 4 |
EMX2 | Schizencephaly | AD | 4 | 6 |
ENG | Juvenile polyposis syndrome, Hereditary hemorrhagic telangiectasia | AD | 158 | 491 |
EPM2A | Epilepsy, progressive myoclonic | AR | 17 | 77 |
EPRS | Leukodystrophy, hypomyelinating | AR | 6 | 6 |
ETFA | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency | AR | 8 | 29 |
ETFB | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency | AR | 6 | 15 |
ETFDH | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency | AR | 43 | 190 |
ETHE1 | Ethylmalonic encephalopathy | AR | 38 | 36 |
EZH2 | Weaver syndrome | AD | 29 | 41 |
FA2H | Spastic paraplegia | AR | 18 | 51 |
FAM126A | Leukodystrophy, hypomyelinating | AR | 8 | 12 |
FAR1* | Peroxisomal fatty acyl-CoA reductase 1 disorder | AR | 4 | 4 |
FARS2 | Combined oxidative phosphorylation deficiency 14, Spastic paraplegia 77, autosomal recessive | AR | 17 | 20 |
FAT4 | Van Maldergem syndrome 2 | AR | 13 | 33 |
FBXL4 | Mitochondrial DNA depletion syndrome | AR | 55 | 47 |
FBXO11 | Intellectual developmental disorder | AD | 8 | 9 |
FDFT1 | Growth retardation, developmental delay, and facial dysmorphism | AR | 3 | 5 |
FDX1L | Myopathy | AR | 1 | 2 |
FGD1 | Aarskog-Scott syndrome, Mental retardation, syndromic | XL | 29 | 51 |
FGF12 | Epileptic encephalopathy, early infantile, 47 | AD | 6 | 10 |
FH | Hereditary leiomyomatosis and renal cell cancer | AD/AR | 178 | 207 |
FKTN | Muscular dystrophy-dystroglycanopathy, Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy (limb-girdle) | AD/AR | 45 | 58 |
FLNA | Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects, Periventricular nodular heterotopia 1, Melnick-Needles syndrome, Intestinal pseudoobstruction, neuronal, X-linked/Congenital short bowel syndrome, Cardiac valvular dysplasia, X-linked | XL | 133 | 257 |
FOLR1 | Cerebral folate deficiency | AR | 10 | 28 |
FOXG1 | Rett syndrome, congenital variant | AD | 106 | 156 |
FOXRED1 | Leigh syndrome, Mitochondrial complex I deficiency | AR | 15 | 8 |
FRMPD4 | Mental retardation, X-linked 104 | 4 | 6 | |
FRRS1L | Epileptic encephalopathy, early infantile, 37 | AR | 9 | 6 |
FTSJ1 | Mental retardation | XL | 5 | 10 |
FUT8 | Congenital disorder of glycosylation | AR | 4 | 4 |
GABBR2 | Epileptic encephalopathy | AD | 5 | 5 |
GABRA1 | Epileptic encephalopathy, early infantile, Epilepsy, childhood absence, Epilepsy, juvenile myoclonic | AD | 24 | 35 |
GABRB1 | Epileptic encephalopathy, early infantile, 45 | 3 | 4 | |
GABRB2 | Epileptic encephalopathy | AD | 19 | 15 |
GABRB3 | Epilepsy, childhood absence | AD | 19 | 57 |
GABRG2# | Generalized epilepsy with febrile seizures plus, Familial febrile seizures, Dravet syndrome, Epilepsy, childhood absence | AD | 34 | 34 |
GALC | Krabbe disease | AR | 107 | 243 |
GAMT | Guanidinoacetate methyltransferase deficiency | AR | 18 | 58 |
GCDH | Glutaric aciduria | AR | 90 | 241 |
GCH1 | Dopa-Responsive Dystonia Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia | AD/AR | 48 | 240 |
GCSH | Glycine encephalopathy | AR | 4 | 2 |
GDI1 | Mental retardation | XL | 7 | 11 |
GFAP | Alexander disease | AD | 114 | 131 |
GFM1 | Combined oxidative phosphorylation deficiency | AR | 19 | 19 |
GFM2 | Combined oxidative phosphorylation deficiency | AR | 5 | 6 |
GJC2 | Spastic paraplegia, Lymphedema, hereditary, Leukodystrophy, hypomyelinating | AD/AR | 26 | 57 |
GK* | Glycerol kinase deficiency | XL | 11 | 35 |
GLB1 | GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome) | AR | 90 | 220 |
GLDC | Glycine encephalopathy | AR | 139 | 425 |
GLI3 | Acrocallosal syndrome, Pallister-Hall syndrome, Grieg cephalopolysndactyly syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4 | AD | 70 | 235 |
GLRB | Hyperekplexia 2 | AR | 6 | 18 |
GLS | 1 | 2 | ||
GLUD1* | Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemia | AD/AR | 14 | 38 |
GMPPB | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), Limb-girdle muscular dystrophy-dystroglycanopathy | AR | 19 | 41 |
GNAO1 | Epileptic encephalopathy, early infantile, Epileptic encephalopathy, early infantile, 17 | AD | 26 | 35 |
GNB1 | Mental retardation, autosomal dominant 42 | AD | 15 | 24 |
GNE | Proximal myopathy and ophthalmoplegia, Nonaka myopathy, Sialuria | AD/AR | 78 | 214 |
GOLGA2 | Microcephaly, seizures, and developmental delay | AR | 2 | |
GOSR2* | Epilepsy, progessive myoclonic | AR | 6 | 4 |
GPAA1 | Cerebellar atrophy, developmental delay, and seizures (CADEDS) | AR | 7 | 9 |
GPHN | Hyperekplexia, Molybdenum cofactor deficiency | AD/AR | 35 | 20 |
GPSM2 | Deafness, Chudley-McCullough syndrome | AR | 18 | 11 |
GRIA3 | Mental retardation | XL | 12 | 23 |
GRIA4 | Intellectual disability and seizures | 5 | 5 | |
GRIK2 | Mental retardation, autosomal recessive 6 | AR | 2 | 7 |
GRIN1 | Beck-Fahrner syndrome, Mental retardation, autosomal dominant 8 | AD/AR | 37 | 38 |
GRIN2A | Epilepsy, focal, with speech disorder | AD | 65 | 95 |
GRIN2B | Epileptic encephalopathy, early infantile, Mental retardation | AD | 64 | 69 |
GRIN2D | Epileptic encephalopathy, early infantile, 46 | AD | 1 | 2 |
GRN | Frontotemporal lobar degeneration with TDP43 inclusions, GRN-related, Neuronal ceroid lipofuscinosis | AD/AR | 43 | 214 |
GTPBP3 | Combined oxidative phosphorylation deficiency 23 | AR | 14 | 15 |
GUF1 | Epileptic encephalopathy, early infantile 40 | 1 | 1 | |
HACE1 | Spastic paraplegia and psychomotor retardation with or without seizures | AR | 13 | 13 |
HCCS | Linear skin defects with multiple congenital anomalies 1 (MIDAS syndrome) | XL | 7 | 13 |
HCN1 | Epileptic encephalopathy, early infantile | AD | 13 | 14 |
HCN2#* | Epilepsy | AD/AR | 1 | 8 |
HDAC8 | Cornelia de Lange syndrome | XL | 41 | 50 |
HECW2 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | AD | 9 | 10 |
HEPACAM | Megalencephalic leukoencephalopathy with subcortical cysts, remitting | AD/AR | 12 | 26 |
HIBCH | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR | 18 | 16 |
HNRNPU | Intellectual disability and seizures | AD | 38 | 66 |
HPRT1 | Lesch-Nyhan syndrome, Kelley-Seegmiller syndrome | XL | 72 | 427 |
HSD17B10 | 17-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, syndromic | XL | 10 | 15 |
HSPD1* | Spastic paraplegia, Leukodystrophy, hypomyelinating | AD/AR | 5 | 5 |
HTRA1 | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 (CADASIL2), Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | AD/AR | 25 | 46 |
HTT | Huntington disease, Lopes-Maciel-Rodan syndrome (LOMARS) | AD/AR | 8 | 7 |
HUWE1 | Mental retardation, syndromic, Turner | XL | 37 | 54 |
IARS2 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) | AR | 2 | 7 |
IBA57 | Multiple mitochondrial dysfunctions syndrome 3, Spastic paraplegia 74, autosomal recessive | AR | 14 | 23 |
ICK | Endocrine-cerebroosteodysplasia, Epilepsy, juvenile myoclonic | AD/AR | 1 | 3 |
IER3IP1 | Microcephaly, epilepsy, and diabetes syndrome | AR | 5 | 3 |
IFIH1 | Singleton-Merten syndrome, Aicardi-Goutieres syndrome 7 | AD/AR | 14 | 19 |
IGBP1 | Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia | XL | 1 | 2 |
IL1RAPL1 | Mental retardation | XL | 17 | 41 |
IQSEC2 | Intellectual developmental disorder | XL | 55 | 56 |
IRF2BPL | Neurodevelopmental disorder with hypotonia, seizures, and absent language | AD | 9 | 2 |
ISPD | Muscular dystrophy-dystroglycanopathy | AR | 38 | 53 |
ITPA | Epileptic encephalopathy, early infantile, 35 | AR | 7 | 5 |
IVD | Isovaleric acidemia | AR | 51 | 90 |
KATNB1 | Lissencephaly 6, with microcephaly | AR | 6 | 10 |
KCNA1 | Episodic ataxia/myokymia syndrome | AD | 24 | 45 |
KCNA2 | Epileptic encephalopathy, early infantile | AD | 15 | 21 |
KCNB1 | Early infantile epileptic encephalopathy | AD | 27 | 30 |
KCNC1 | Epilepsy, progressive myoclonic | AD | 5 | 3 |
KCNH1 | Temple-Baraitser syndrome, Zimmermann-Laband syndrome 1 | AD/AR | 16 | 13 |
KCNJ10 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome), Pendred syndrome, Enlarged vestibular aqueduct | AR/Digenic | 13 | 29 |
KCNMA1 | Paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy (PNKD3), Cerebellar atrophy, developmental delay, and seizures (CADEDS) | AD/AR | 5 | 9 |
KCNQ2 | Epileptic encephalopathy, early infantile, Benign familial neonatal seizures, Myokymia | AD | 335 | 274 |
KCNQ3 | Seizures, benign neonatal | AD | 20 | 24 |
KCNQ5 | Mental retardation, autosomal dominant 46 | AD | 6 | 5 |
KCNT1 | Epilepsy, nocturnal frontal lobe | AD | 31 | 39 |
KCNT2 | Epileptic encephalopathy | AD | 2 | 5 |
KCTD3 | Epileptic encephalopathy | AR | 1 | 3 |
KCTD7 | Epilepsy, progressive myoclonic | AR | 18 | 20 |
KDM1A | Cleft palate, psychomotor retardation, and distinctive facial features | AD | 5 | 17 |
KDM5C | Mental retardation, syndromic, Claes-Jensen | XL | 47 | 55 |
KIAA0196 | Spastic paraplegia, Ritscher-Schinzel syndrome (3C syndrome) | AD/AR | 15 | 18 |
KIAA1109 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | AR | 7 | 16 |
KIAA1715 | AR | 4 | ||
KIAA2022 | Mental retardation | XL | 42 | 40 |
KIF1A | Spastic paraplegia, Neuropathy, hereditary sensory, Mental retardation | AD/AR | 63 | 42 |
KIF1BP | Goldberg-Shprintzen megacolon syndrome | AR | 7 | 10 |
KIF5A | Spastic paraplegia | AD | 18 | 62 |
KIF5C | Cortical dysplasia, complex, with other brain malformations 2 | AD | 6 | 5 |
KIF7 | Acrocallosal syndrome, Hydrolethalus syndrome, Al-Gazali-Bakalinova syndrome, Joubert syndrome | AR/Digenic | 24 | 44 |
KMT2E | AD | 4 | ||
KPTN | Mental retardation, autosomal recessive 41 | AR | 5 | 5 |
KRIT1 | Cerebral cavernous malformations | AD | 80 | 264 |
L1CAM | Mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome, Hydrocephalus due to congenital stenosis of aqueduct of Sylvius, Spastic, CRASH syndrome, Corpus callosum, partial agenesis | XL | 80 | 292 |
L2HGDH | L-2-hydroxyglutaric aciduria | AR | 15 | 79 |
LAMA2 | Muscular dystrophy, congenital merosin-deficient | AR | 199 | 301 |
LAMB1 | Lissencephaly 5 | AR | 8 | 7 |
LAMC3 | Cortical malformations, occipital | AR | 8 | 16 |
LARGE | Muscular dystrophy-dystroglycanopathy | AR | 19 | 27 |
LGI1 | Epilepsy, familial temporal lobe | AD | 28 | 54 |
LIAS | Pyruvate dehydrogensae lipoic acid synthetase deficiency | AR | 11 | 8 |
LIPT1 | Lipoyltransferase 1 deficiency | AR | 9 | 9 |
LMNB1 | Leukodystrophy, demyelinating, adult-onset, autosomal dominant | AD | 2 | 35 |
LMNB2 | Liopdystrophy, partial, acquired, Epilepsy, progressive myoclonic, 9 | AD/AR | 1 | 5 |
LRPPRC | Leigh syndrome, French-Canadian type | AR | 55 | 17 |
LYRM7 | Mitochondrial complex III deficiency, nuclear type 8 | AR | 5 | 9 |
MACF1 | Lissencephaly | AD | 1 | 9 |
MAGI2 | Nephrotic syndrome 15 | AR | 7 | 27 |
MAOA | Brunner syndrome | XL | 7 | 14 |
MARS2 | Combined oxidative phosphorylation deficiency | AR | 8 | 5 |
MBD5 | Mental retardation | AD | 62 | 90 |
MBOAT7 | Mental retardation, autosomal recessive 57 | AR | 5 | 5 |
MDH2 | Epileptic encephalopathy, early infantile, 51 | AR | 5 | 9 |
MECP2 | Angelman-like syndrome, Autism, Rett syndrome, Encephalopathy, Mental retardation | XL | 506 | 1039 |
MED12 | Ohdo syndrome, Mental retardation, with Marfanoid habitus, FG syndrome, Opitz-Kaveggia syndrome, Lujan-Fryns syndrome | XL | 29 | 30 |
MED17 | Microcephaly, postnatal progressive, with seizures and brain atrophy | AR | 4 | 4 |
MEF2C | Mental retardation | AD | 45 | 84 |
MFN2 | Hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease | AD/AR | 70 | 223 |
MFSD8 | Ceroid lipofuscinosis, neuronal | AR | 27 | 47 |
MIPEP* | Combined oxidative phosphorylation deficiency 31 | AR | 5 | 8 |
MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts | AR | 39 | 108 |
MOCS1* | Molybdenum cofactor deficiency | AR | 7 | 35 |
MOCS2 | Molybdenum cofactor deficiency | AR | 10 | 16 |
MPV17 | Mitochondrial DNA depletion syndrome | AR | 35 | 50 |
MRPL44 | Combined oxidative phosphorylation deficiency 16 | AR | 2 | 2 |
MRPS34 | Combined oxidative phosphorylation deficiency | 32 | 4 | |
MSL3 | Mental retardation, X-linked | XL | 9 | |
MT-ATP6 | Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrial | Mitochondrial | 19 | |
MT-ATP8 | Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophic | Mitochondrial | 4 | |
MT-CO1 | Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiency, Deafness, mitochondrial | Mitochondrial | 17 | |
MT-CO2 | Cytochrome c oxidase deficiency | Mitochondrial | 8 | |
MT-CO3 | Cytochrome c oxidase deficiency, Leber hereditary optic neuropathy | Mitochondrial | 9 | |
MT-CYB | Mitochondrial | 69 | ||
MT-ND1 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia | Mitochondrial | 21 | |
MT-ND2 | Leber hereditary optic neuropathy, Mitochondrial complex I deficiency | Mitochondrial | 6 | |
MT-ND3 | Leber optic atrophy and dystonia, Mitochondrial complex I deficiency | Mitochondrial | 7 | |
MT-ND4 | Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiency | Mitochondrial | 11 | |
MT-ND4L | Leber hereditary optic neuropathy | Mitochondrial | 2 | |
MT-ND5 | Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiency | Mitochondrial | 19 | |
MT-ND6 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiency | Mitochondrial | 16 | |
MT-RNR1 | Deafness, mitochondrial | Mitochondrial | 3 | |
MT-RNR2 | Chloramphenicol toxicity/resistance | Mitochondrial | 2 | |
MT-TA | Mitochondrial | 4 | ||
MT-TC | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | Mitochondrial | 3 | |
MT-TD | Mitochondrial | 1 | ||
MT-TE | Diabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetes | Mitochondrial | 5 | |
MT-TF | Myoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes | Mitochondrial | 7 | |
MT-TG | Mitochondrial | 3 | ||
MT-TH | Mitochondrial | 4 | ||
MT-TI | Mitochondrial | 7 | ||
MT-TK | Myoclonic epilepsy with ragged red fibers, Leigh syndrome | Mitochondrial | 5 | |
MT-TL1 | Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility to | Mitochondrial | 14 | |
MT-TL2 | Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Mitochondrial Myopathy, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes | Mitochondrial | 5 | |
MT-TM | Leigh syndrome, Mitochondrial multisystemic disorder | Mitochondrial | 1 | |
MT-TN | Progressive external ophthalmoplegia, Mitochondrial multisystemic disorder | Mitochondrial | 3 | |
MT-TP | Mitochondrial | 2 | ||
MT-TQ | Mitochondrial multisystemic disorder | Mitochondrial | 2 | |
MT-TR | Encephalopathy, mitochondrial | Mitochondrial | 2 | |
MT-TS1 | Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | Mitochondrial | 10 | |
MT-TS2 | Mitochondrial multisystemic disorder | Mitochondrial | 2 | |
MT-TT | Mitochondrial | 5 | ||
MT-TV | Hypertrophic cardiomyopathy (HCM), Leigh syndrome, Mitochondrial multisystemic disorder, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes | Mitochondrial | 3 | |
MT-TW | Leigh syndrome, Myopathy, mitochondrial | Mitochondrial | 8 | |
MT-TY | Mitochondrial multisystemic disorder | Mitochondrial | 4 | |
MTFMT | Combined oxidative phosphorylation deficiency 15 | AR | 15 | 16 |
MTHFR | Homocystinuria due to MTHFR deficiency | AR | 65 | 122 |
MTM1 | Myopathy, centronuclear | XL | 158 | 301 |
MTOR | Smith-Kingsmore syndrome | AD | 26 | 24 |
NACC1 | Diets-Jongmans syndrome | AD | 2 | 3 |
NARS2 | Combined oxidative phosphorylation deficiency | AR | 12 | 12 |
NBEA* | Epilepsy | AD | 3 | 13 |
NDE1 | Microhydranencephaly, Lissencephaly | AR | 13 | 18 |
NDP | Exudative vitreoretinopathy, Norrie disease | XL | 31 | 167 |
NDST1 | Mental retardation, autosomal recessive 46 | AR | 4 | 7 |
NDUFA1 | Mitochondrial complex I deficiency | XL | 3 | 4 |
NDUFA11 | Mitochondrial complex I deficiency | AR | 5 | 1 |
NDUFA6 | _ | 6 | 2 | |
NDUFAF2 | Mitochondrial complex I deficiency, Leigh syndrome | AR | 9 | 8 |
NDUFAF3 | Mitochondrial complex I deficiency | AR | 6 | 9 |
NDUFAF4 | Mitochondrial complex I deficiency | AR | 1 | 3 |
NDUFAF5 | Mitochondrial complex I deficiency | AR | 8 | 12 |
NDUFAF6 | Mitochondrial complex I deficiency, Leigh syndrome | AR | 18 | 10 |
NDUFB8 | _ | 4 | 4 | |
NDUFS1 | Mitochondrial complex I deficiency | AR | 22 | 28 |
NDUFS2 | Mitochondrial complex I deficiency | AR | 5 | 24 |
NDUFS4 | Mitochondrial complex I deficiency, Leigh syndrome | AR | 11 | 17 |
NDUFS6 | Mitochondrial complex I deficiency | AR | 6 | 7 |
NDUFS7 | Mitochondrial complex I deficiency, Leigh syndrome | AR | 5 | 7 |
NDUFS8 | Mitochondrial complex I deficiency, Leigh syndrome | AR | 13 | 12 |
NDUFV1 | Mitochondrial complex I deficiency | AR | 19 | 35 |
NDUFV2 | Mitochondrial complex I deficiency | AR | 4 | 5 |
NECAP1* | Epileptic encephalopathy, early infantile | AR | 1 | 1 |
NEU1 | Sialidosis | AR | 22 | 62 |
NEUROD2 | Epileptic encephalopathy | AD | ||
NFIB | Macrocephaly | AD | 17 | 2 |
NFIX | Marshall-Smithsyndrome, Sotos syndrome 2 | AD | 49 | 78 |
NFU1 | Multiple mitochondrial dysfunctions syndrome 1 | AR | 6 | 15 |
NHLRC1 | Epilepsy, progressive myoclonic | AR | 14 | 70 |
NHS | Nance-Horan syndrome, Cataract | XL | 36 | 52 |
NKX6-2 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | AR | 4 | 8 |
NLGN3 | Autism, Asperger syndrome | XL | 2 | 10 |
NLGN4X | Autism, Asperger syndrome, Mental retardation | XL | 7 | 35 |
NODAL | Heterotaxy, visceral | AD | 4 | 15 |
NONO | Mental retardation, X-linked, syndrome 34, Left ventricular non-compaction cardiomyopathy (LVNC) | XL | 10 | 4 |
NOTCH3 | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), Lateral meningocele syndrome | AD | 87 | 364 |
NPRL2 | Epilepsy, familial focal, with variable foci 2 | AD | 4 | 8 |
NPRL3 | Epilepsy, familial focal, with variable foci 3 | AD | 21 | 10 |
NR2F1 | Bosch-Boonstra optic atrophy syndrome | AD | 23 | 34 |
NRXN1 | Pitt-Hopkins like syndrome, Developmental delay with or without dysmorphic facies and autism | AD/AR | 99 | 311 |
NSD1 | Sotos syndrome, Weaver syndrome, Beckwith-Wiedemann syndrome | AD | 329 | 517 |
NSDHL | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome), CK syndrome | XL | 15 | 28 |
NT5C2 | Spastic paraplegia 45 | AR | 8 | 7 |
NTRK2 | Obesity, hyperphagia, and developmental delay | AD | 4 | 5 |
NUBPL | Mitochondrial complex I deficiency | AR | 9 | 10 |
NUP62 | Striatonigral degeneration, infantile | AR | 2 | 1 |
NUS1* | Congenital disorder of glycosylation, type 1aa | 4 | 5 | |
NXF5#* | Familial heart block and focal segmental glomerulosclerosis, Mental retardation, syndromic, X-linked | XL | 5 | |
OCLN#* | Pseudo-TORCH syndrome 1 (Band-like calcification with simplified gyration and polymicrogyria) | AR | 13 | 20 |
OCRL | Lowe syndrome, Dent disease | XL | 47 | 264 |
OFD1 | Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital syndrome, Joubert syndrome | XL | 153 | 160 |
OPA1 | Optic atrophy, Optic atrophy 1, Optic atrophy with or without deafness, Ophthalmoplegia, myopathy, ataxia, and neuropathy, Behr synrome, Mitochondrial DNA depletion syndrome 14 | AD/AR | 96 | 390 |
OPA3 | Optic atrophy, 3-methylglutaconic aciduria | AD/AR | 13 | 15 |
OPHN1 | Mental retardation, with cerebellar hypoplasia and distinctive facial appearance | XL | 28 | 42 |
OTC | Ornithine transcarbamylase deficiency | XL | 343 | 513 |
OTX2 | Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunction | AD | 23 | 73 |
P4HTM | Intellectual disability and seizures | AR | ||
PACS1 | Mental retardation, autosomal dominant 17 (Schuss-Hoeijmakers syndrome) | AD | 3 | 2 |
PACS2 | Early infantile epileptic encephalopathy | AD | 1 | 2 |
PAFAH1B1 | Lissencephaly, Subcortical laminar heterotopia | AD | 121 | 169 |
PAH | Hyperphenylalaninemia, non-PKU mild, Phenylketonuria | AR | 294 | 966 |
PAK3 | Mental retardation | XL | 9 | 13 |
PARS2 | Alpers syndrome | AR | 3 | 6 |
PAX6 | Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome), Keratitis, Coloboma, ocular, Cataract with late-onset corneal dystrophy, Morning glory disc anomaly, Foveal hypoplasia, Aniridia, Optic nerve hypoplasia, Peters anomaly | AD | 144 | 550 |
PCDH19 | Epileptic encephalopathy, early infantile | XL | 116 | 200 |
PDCD10 | Cerebral cavernous malformations | AD | 22 | 76 |
PDHA1 | Leigh syndrome, Pyruvate dehydrogenase E1-alpha deficiency | XL | 66 | 192 |
PDHB | Pyruvate dehydrogensae E1-beta deficiency | AR | 4 | 13 |
PDHX | Pyruvate dehydrogenase E3-binding protein deficiency | AR | 14 | 22 |
PDSS2 | Coenzyme Q10 deficiency | AR | 8 | 4 |
PET100 | Mitochondrial complex IV deficiency | AR | 2 | |
PEX1 | Heimler syndrome, Peroxisome biogenesis factor disorder 1A, Peroxisome biogenesis factor disorder 1B | AR | 112 | 134 |
PEX10 | Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorder, Ataxia | AR | 34 | 29 |
PEX12 | Zellweger syndrome, Peroxisome biogenesis disorder | AR | 43 | 37 |
PEX13 | Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorder | AR | 9 | 10 |
PEX14 | Peroxisome biogenesis factor disorder 14, Zellweger syndrome | AR | 5 | 4 |
PEX16 | Zellweger syndrome, Peroxisome biogenesis disorder | AR | 8 | 13 |
PEX19 | Peroxisome biogenesis disorder, 19, Zellweger syndrome | AR | 3 | 4 |
PEX2 | Zellweger syndrome, Peroxisome biogenesis disorder | AR | 16 | 18 |
PEX26 | Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorder | AR | 13 | 27 |
PEX3 | Zellweger syndrome, Peroxisome biogenesis disorder | AR | 4 | 10 |
PEX5 | Adrenoleukodystrophy, neonatal, Rhizomelic chondrodysplasia punctata, Zellweger syndrome, Peroxisome biogenesis disorder | AR | 8 | 14 |
PEX6 | Heimler syndrome, Peroxisome biogenesis disorder 4A, Peroxisome biogenesis disorder 4B | AR | 58 | 107 |
PGK1 | Phosphoglycerate kinase 1 deficiency | XL | 16 | 26 |
PHACTR1 | Epileptic encephalopathy | AD | 4 | 2 |
PHF6 | Borjeson-Forssman-Lehmann syndrome | XL | 22 | 29 |
PHF8 | Mental retardation syndrome, Siderius | XL | 13 | 15 |
PHGDH | Neu-Laxova syndrome 1 | AR | 13 | 23 |
PI4KA | Perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis | AR | 16 | 4 |
PIGA* | Multiple congenital anomalies-hypotonia-seizures syndrome | XL | 24 | 27 |
PIGB | Epileptic encephalopathy | AR | ||
PIGC* | AR | 4 | 4 | |
PIGG | Mental retardation, autosomal recessive 53 | AR | 7 | 6 |
PIGN* | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | AR | 33 | 34 |
PIGO | Hyperphosphatasia with mental retardation syndrome 2 | AR | 18 | 20 |
PIGP | Epileptic encephalopathy, early infantile, 55 | AR | 2 | |
PIGQ | Epileptic encephalopathy | AR | 3 | 4 |
PIGS | Epileptic encephalopathy | AR | ||
PIGT | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | AR | 13 | 12 |
PIGV | Hyperphosphatasia with mental retardation syndrome 1 | AR | 9 | 16 |
PIGW | Hyperphosphatasia with mental retardation syndrome 5 | AR | 6 | 4 |
PIK3R2 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | AD | 8 | 8 |
PITRM1 | AR | 2 | ||
PLAA | Neurodevelopmental disorder | 3 | 3 | |
PLCB1 | Epileptic encephalopathy, early infantile | AR | 8 | 10 |
PLP1 | Spastic paraplegia, Pelizaeus-Merzbacher disease | XL | 60 | 348 |
PNKP | Epileptic encephalopathy, early infantile, Ataxia-oculomotor | AR | 34 | 23 |
PNPO | Pyridoxamine 5′-phosphate oxidase deficiency | AR | 15 | 31 |
PNPT1* | Combined oxidative phosphorylation deficiency, 13, Deafness, autosomal recessive 70 | AR | 11 | 13 |
POGZ | Mental retardation, autosomal dominant 37 (White-Sutton syndrome) | AD | 46 | 52 |
POLG | POLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, dysarthria, and ophthalmoparesis, Alpers syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome | AD/AR | 89 | 290 |
POLG2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions | AD | 5 | 14 |
POLR3A | Leukodystrophy, hypomyelinating | AR | 29 | 91 |
POLR3B | Leukodystrophy, hypomyelinating | AR | 19 | 58 |
POMGNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 | AR | 6 | 9 |
POMT1 | Muscular dystrophy-dystroglycanopathy | AR | 47 | 96 |
PORCN | Focal dermal hypoplasia | XL | 16 | 121 |
PPP2CA | Neurodevelopmental disorder with hypotonia, seizures, and absent language | AD | 2 | |
PPP3CA | Epilepitic encephalopathy | AD | 8 | 11 |
PPT1 | Ceroid lipofuscinosis, neuronal | AR | 94 | 77 |
PQBP1 | Renpenning syndrome | XL | 14 | 18 |
PRICKLE1 | Epilepsy, progressive myoclonic | AD/AR | 3 | 16 |
PRICKLE2 | AD/AR | 2 | 8 | |
PRIMA1 | Epilepsy, nocturnal frontal lobe | AR | 1 | |
PRODH* | Hyperprolinemia | AR | 52 | 10 |
PROSC | Epilepsy | AR | 7 | 12 |
PRPS1* | Phosphoribosylpyrophosphate synthetase I superactivity, Arts syndrome, Charcot-Marie-Tooth disease, X-linked recessive, 5, Deafness, X-linked 1 | XL | 27 | 32 |
PRRT2 | Episodic kinesigenic dyskinesia, Seizures, benign familial infantile, 2, Convulsions, familial infantile, with paroxysmal choreoathetosis | AD | 42 | 99 |
PRUNE | 11 | 10 | ||
PSAP | Krabbe disease, atypical, Metachromatic leukodystrophy due to saposin-b deficiency, Combined saposin deficiency, Gaucher disease, atypical, due to saposin C deficiency | AR | 18 | 26 |
PSAT1* | Neu-Laxova syndrome 2 | AR | 9 | 10 |
PTCH1 | Basal cell nevus syndrome | AD | 193 | 522 |
PTCHD1 | Autism susceptibility, X-linked 4 | XL | 9 | 47 |
PTEN* | Bannayan-Riley-Ruvalcaba syndrome, Lhermitte-Duclos syndrome, Cowden syndrome | AD | 435 | 638 |
PTPN23 | Epileptic encephalopathy | AR | 1 | 4 |
PTS | Hyperphenylalaninemia, BH4-deficient | AR | 34 | 112 |
PUM1 | Ataxia, Neurodevelopmental disorder | AD | 3 | 11 |
PURA | Mental retardation | AD | 74 | 47 |
PYCR2 | Leukodystrophy, hypomyelinating 10 | AR | 11 | 13 |
QARS | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy | AR | 14 | 10 |
QDPR | Hyperphenylalaninemia, BH4-deficient | AR | 14 | 66 |
RAB11A | 4 | |||
RAB11B | 2 | 2 | ||
RAB18 | Warburg micro syndrome 3 | AR | 5 | 5 |
RAB39B | Waisman parkinsonism-mental retardation syndrome, Mental retardation | XL | 6 | 17 |
RAB3GAP1 | Warburg micro syndrome | AR | 29 | 66 |
RAB3GAP2 | Warburg micro syndrome, Martsolf syndrome | AR | 11 | 15 |
RALA* | Intellectual developmental disorder | AD | 1 | |
RANBP2* | Encephalopathy, acute, infection-induced, 3, susceptibility to | AD | 41 | 6 |
RARS | Leukodystrophy, hypomyelinating 9 | AR | 12 | 11 |
RARS2 | Pontocerebellar hypoplasia | AR | 23 | 37 |
RBM10 | TARP syndrome | XL | 12 | 10 |
RELN | Lissencephaly, Epilepsy, familial temporal lobe | AD/AR | 25 | 44 |
RHOBTB2 | AD | 5 | 5 | |
RLIM* | Mental retardation, X-linked 61 | XL | 4 | 5 |
RMND1* | Combined oxidative phosphorylation deficiency | AR | 17 | 15 |
RNASEH1 | Progressive external ophthalmoplegia with mitochondrial DNA deletions | AR | 3 | |
RNASEH2A | Aicardi-Goutières syndrome | AR | 13 | 21 |
RNASEH2B | Aicardi-Goutières syndrome | AR | 16 | 41 |
RNASEH2C | Aicardi-Goutières syndrome | AR | 6 | 14 |
RNASET2 | Leukoencephalopathy, cystic, without megalencephaly | AR | 8 | 12 |
RNF13* | ||||
RNF135 | Macrocephaly, macrosomia, facial dysmorphism syndrome | AD | 6 | 6 |
RNF216* | Cerebellar ataxia and hypogonadotropic hypogonadism (Gordon Holmes syndrome) | AR | 10 | 14 |
ROGDI | Kohlschutter-Tonz syndrome | AR | 14 | 13 |
RORA | AD | 6 | 15 | |
RORB | Epilepsy | AD | 3 | 9 |
RPL10 | Autism | XL | 4 | 5 |
RPS6KA3 | Coffin-Lowry syndrome, Mental retardation | XL | 65 | 171 |
RRM2B | Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome | AD/AR | 41 | 41 |
RTTN | Microcephaly, short stature, and polymicrogyria with or without seizures | AR | 16 | 16 |
RUSC2 | 2 | 2 | ||
SAMHD1 | Aicardi-Goutières syndrome, Chilblain lupus 2 | AD/AR | 25 | 56 |
SCARB2 | Epilepsy, progressive myoclonic | AR | 23 | 27 |
SCN1A | Migraine, familial hemiplegic, Epileptic encephalopathy, early infantile, Generalized epilepsy with febrile seizures plus, Early infantile epileptic encephalopathy 6, Generalized epilepsy with febrile seizures plus, type 2 , Febrile seizures, familial 3A | AD | 718 | 1585 |
SCN1B | Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus, Epilepsy, generalized, with febrile seizures plus, type 1, Epileptic encephalopathy, early infantile, 52 | AD | 16 | 31 |
SCN2A | Epileptic encephalopathy, early infantile, Seizures, benign familial infantile | AD | 184 | 261 |
SCN3A | Epilepsy, Epileptic encephalopathy | AD | 13 | 17 |
SCN8A | Cognitive impairment, Epileptic encephalopathy, early infantile | AD | 91 | 93 |
SCN9A | Paroxysmal extreme pain disorder, Small fiber neuropathy, Erythermalgia, primary, Generalized epilepsy with febrile seizures plus, type 7, Insensitivity to pain, congenital, autosomal recessive | AD/AR | 61 | 125 |
SCO1 | Mitochondrial complex IV deficiency | AR | 6 | 5 |
SCO2 | Leigh syndrome, Hypertrophic cardiomyopathy (HCM), Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Myopia | AR | 42 | 37 |
SDHA* | Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Gastrointestinal stromal tumor, Paragangliomas, Dilated cardiomyopathy (DCM), Cardiomyopathy, dilated, 1GG | AD/AR | 54 | 87 |
SDHAF1 | Mitochondrial complex II deficiency | AR | 4 | 6 |
SEPSECS | Pontocerebellar hypoplasia, type 2D | AR | 10 | 15 |
SERAC1 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | AR | 22 | 52 |
SERPINI1 | Encephalopathy, familial, with neuroserpin inclusion bodies | AD | 5 | 9 |
SETBP1 | Mental retardation, autosomal dominant 29, Schinzel-Giedion midface retraction syndrome | AD | 23 | 46 |
SETD1B | Intellectual disability and seizures | AD | 7 | |
SETD2 | Luscan-Lumish syndrome | AD | 10 | 17 |
SGSH | Mucopolysaccharidosis (Sanfilippo syndrome) | AR | 55 | 148 |
SHANK3 | Phelan-McDermid syndrome, Schizophrenia 15 | AD | 66 | 191 |
SHH | Holoprosencephaly, Microphthalmia with coloboma | AD | 42 | 218 |
SHROOM4 | Stocco dos Santos mental retardation syndrome | XL | 4 | 9 |
SIK1 | Epileptic encephalopathy, early infantile | AD | 5 | 6 |
SIX3 | Holoprosencephaly | AD | 17 | 87 |
SLC12A5 | Epileptic encephalopathy, early infantile | AD/AR | 6 | 14 |
SLC13A5 | Epileptic encephalopathy, early infantile | AR | 18 | 20 |
SLC16A2 | Allan-Herndon-Dudley syndrome | XL | 39 | 84 |
SLC19A3 | Thiamine metabolism dysfunction syndrome | AR | 32 | 37 |
SLC1A2 | Epileptic encephalopathy, early infantile, 41 | 6 | 7 | |
SLC1A4 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | AR | 4 | 8 |
SLC25A1 | Combined D-2- and L-2-hydroxyglutaric aciduria | AR | 8 | 24 |
SLC25A15* | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR | 24 | 36 |
SLC25A19 | Thiamine metabolism dysfunction syndrome 4, Microcephaly, Amish type | AR | 8 | 6 |
SLC25A22 | Epileptic encephalopathy, early infantile | AR | 8 | 10 |
SLC25A3 | Micochondrial phosphate carrier deficiency | AR | 2 | 5 |
SLC25A4 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome | AD/AR | 12 | 14 |
SLC25A42 | AR | 1 | 1 | |
SLC25A46 | Neuropathy, hereditary motor and sensory, type VIB | AR | 14 | 17 |
SLC2A1 | Stomatin-deficient cryohydrocytosis with neurologic defects, Epilepsy, idiopathic generalized, GLUT1 deficiency syndrome | AD/AR | 106 | 275 |
SLC35A1 | Congenital disorder of glycosylation | AR | 4 | 5 |
SLC35A2 | Congenital disorder of glycosylation | XL | 16 | 16 |
SLC39A8# | Congenital disorder of glycosylation, type IIn | AR | 7 | 6 |
SLC46A1 | Folate malabsorption | AR | 17 | 23 |
SLC6A1 | Myoclonic-astastic epilepsy | AD | 38 | 41 |
SLC6A5 | Hyperekplexia | AR | 15 | 33 |
SLC6A8* | Creatine deficiency syndrome | XL | 38 | 133 |
SLC9A6 | Mental retardation, syndromic, Christianson | XL | 24 | 28 |
SMARCA2 | Nicolaides-Baraitser syndrome | AD | 41 | 73 |
SMC1A | Cornelia de Lange syndrome | XL | 73 | 87 |
SMS | Mental retardation, Snyder-Robinson | XL | 11 | 14 |
SNAP25 | Myasthenic syndrome, congenital | AD | 2 | 4 |
SNAP29 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome) | AR | 8 | 12 |
SNORD118 | Leukoencephalopathy, brain calcifications, and cysts (Labrune syndrome) | AR | 6 | 39 |
SOX10 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease, Kallmann syndrome | AD | 56 | 148 |
SOX2* | Microphthalmia, syndromic | AD | 34 | 104 |
SOX3 | Panhypopituitarism | XL | 4 | 26 |
SPATA5 | Developmental delay with or without dysmorphic facies and autism, Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) | AR | 27 | 27 |
SPG7 | Spastic paraplegia | AR | 69 | 111 |
SPTAN1 | Epileptic encephalopathy, early infantile | AD | 16 | 40 |
SPTBN4 | Myopathy, congenital, with neuropathy and deafness | AR | 6 | 7 |
SRPX2 | Rolandic epilepsy, mental retardation, and speech dyspraxia | XL | 3 | 4 |
SSR4 | Congenital disorder of glycosylation | XL | 5 | 7 |
ST3GAL3 | Epileptic encephalopathy, early infantile, Mental retardation | AR | 3 | 5 |
ST3GAL5 | Ganglioside GM3 synthase deficiency | AR | 10 | 5 |
STAMBP | Microcephaly-capillary malformation syndrome | AR | 15 | 19 |
STRADA | Polyhydramnios, megalencephaly, and symptomatic epilepsy | AR | 6 | 4 |
STX1B | Generalized epilepsy with febrile seizures plus | AD | 11 | 9 |
STXBP1 | Epileptic encephalopathy, early infantile | AD | 140 | 190 |
SUCLA2 | Mitochondrial DNA depletion syndrome | AR | 9 | 29 |
SUCLG1 | Mitochondrial DNA depletion syndrome | AR | 12 | 28 |
SUMF1 | Multiple sulfatase deficiency | AR | 21 | 53 |
SUOX | Sulfocysteinuria | AR | 8 | 29 |
SURF1 | Leigh syndrome, Charcot-Marie-Tooth disease | AR | 50 | 101 |
SYN1 | Epilepsy, with variable learning disabilities and behavior disorders | XL | 12 | 8 |
SYNGAP1 | Mental retardation | AD | 102 | 83 |
SYNJ1 | Epileptic encephalopathy, early infantile, 53, Parkinson disease 20, early-onset | AR | 12 | 25 |
SYP | Mental retardation | XL | 4 | 8 |
SZT2 | Epileptic encephalopathy, early infantile | AR | 20 | 24 |
TACO1 | Mitochondrial complex IV deficiency | AR | 2 | |
TAF1 | Dystonia 3, torsion, X-linked, Mental retardation, X-linked, syndromic 33 | XL | 13 | 14 |
TANGO2 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) | AR | 13 | 9 |
TBC1D20 | Warburg micro syndrome 4 | AR | 6 | 6 |
TBC1D24 | Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome, Deafness, autosomal dominant, 65, Myoclonic epilepsy, infantile, familial, Epileptic encephalopathy, early infantile, 16, Deafness, autosomal recessive 86 | AD/AR | 43 | 55 |
TBCD | Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (PEBAT) | AR | 17 | 21 |
TBCE | Progressive encephalopathy with amyotrophy and optic atrophy (PEAMO) | AR | 12 | 8 |
TBCK | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | AR | 14 | 16 |
TBL1XR1* | Mental retardation, autosomal dominant 41, Pierpont syndrome | AD | 25 | 23 |
TBR1 | AD | 16 | 18 | |
TCF20 | Developmental delay and seizures with or without movement abnormalities (DEDSM) | AD | 7 | 16 |
TCF4 | Corneal dystrophy, Fuchs endothelial, Pitt-Hopkins syndrome | AD | 105 | 146 |
TEK | Glaucoma 3, primary congenital, E, Venous malformations, multiple cutaneous and mucosal | AD | 7 | 35 |
TGIF1 | Holoprosencephaly | AD | 9 | 25 |
THOC2 | Mental retardation, X-linked 12 | XL | 12 | 5 |
TIMM8A* | Mohr-Tranebjaerg syndrome, Jensen syndrome, Opticoacoustic nerve atrophy with dementia | XL | 11 | 21 |
TK2# | Mitochondrial DNA depletion syndrome | AR | 38 | 52 |
TMEM126A | Optic atrophy | AR | 3 | 1 |
TMEM126B | Mitochondrial complex I deficiency | AR | 4 | 4 |
TMEM5 | Muscular dystrophy-dystroglycanopathy | AR | 11 | 7 |
TMEM94 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) | AR | 3 | |
TMTC3 | Lissencephaly 8 | 6 | 10 | |
TPK1 | Thiamine metabolism dysfunction syndrome 5 | AR | 14 | 11 |
TPP1 | Spinocerebellar ataxia, Neuronal ceroid lipofuscinosis type 2 | AR | 75 | 112 |
TRAK1 | Epileptic encephalopathy | AR | 1 | 6 |
TREX1 | Vasculopathy, retinal, with cerebral leukodystrophy, Chilblain lupus, Aicardi-Goutières syndrome | AD/AR | 30 | 71 |
TRIM8 | Epileptic encephalopathy | AD | 1 | 2 |
TRIP12 | Intellectual developmental disorder | AD | 14 | 32 |
TRIT1 | Combined oxidative phosphorylation deficiency 35 | 2 | 6 | |
TRMU | Liver failure, infantile, Reversible infantile respiratory chain deficiency | AR | 20 | 21 |
TSC1 | Lymphangioleiomyomatosis, Tuberous sclerosis | AD | 177 | 372 |
TSC2 | Lymphangioleiomyomatosis, Tuberous sclerosis | AD | 396 | 1195 |
TSFM# | Combined oxidative phosphorylation deficiency | AR | 6 | 6 |
TSPAN7 | Mental retardation | XL | 4 | 12 |
TTC19 | Mitochondrial complex III deficiency, nuclear type 2 | AR | 13 | 10 |
TUBA1A* | Lissencephaly | AD | 69 | 65 |
TUBA8 | Polymicrogyria with optic nerve hypoplasia | AR | 1 | 3 |
TUBB2A#* | Cortical dysplasia, complex, with other brain malformations 5 | AD | 12 | 5 |
TUBB2B#* | Polymicrogyria, asymmetric | AD | 21 | 30 |
TUBB3* | Fibrosis of extraocular muscles, congenital, Cortical dysplasia, complex, with other brain malformations | AD/AR | 28 | 25 |
TUBB4A* | Leukodystrophy, hypomyelinating, Dystonia | AD | 39 | 42 |
TUBG1* | Cortical dysplasia, complex, with other brain malformations 4 | AD | 5 | 3 |
TYMP | Mitochondrial DNA depletion syndrome | AR | 84 | 94 |
UBA5* | Epileptic encephalopathy, early infantile, 44, Spinocerebellar ataxia, autosomal recessive 24 | AR | 16 | 15 |
UBE2A | Mental retardation, syndromic, Nascimento | XL | 9 | 25 |
UBE3A* | Angelman syndrome | AD | 176 | 202 |
UBTF | Neurodegeneration, childhood-onset, with brain atrophy | AD | 3 | 1 |
UNC80 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | AR | 26 | 20 |
UPF3B | Mental retardation, syndromic | XL | 9 | 21 |
UQCRQ | Mitochondrial complex III deficiency, nuclear type 4 | AR | 1 | 1 |
USP9X | Mental retardation, X-linked 99, Mental retardation, X-linked 99, syndromic, female restricted | XL | 30 | 27 |
VAMP2 | AD | |||
VARS | Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (PEBAT), Encephalopathy, progressive | AR | 12 | 6 |
VLDLR | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome | AR | 11 | 24 |
VPS13A | Choreoacanthocytosis | AR | 19 | 115 |
WARS2 | Encephalopathy, mitochondrial | AR | 6 | 14 |
WASF1 | Intellectual disability and seizures | AD | 3 | 3 |
WDR26 | Skraban-Deardorff syndrome | AD | 13 | 34 |
WDR45 | Neurodegeneration with brain iron accumulation | XL | 46 | 78 |
WDR62 | Microcephaly | AR | 33 | 48 |
WFS1 | Wolfram syndrome, Wolfram-like syndrome, autosomal dominant, Deafness, autosomal dominant 6/14/38, Cataract 41 | AD/AR | 69 | 362 |
WWOX | Epileptic encephalopathy, early infantile, Spinocerebellar ataxia | AR | 43 | 45 |
YWHAE | Distal 17p13.3 microdeletion syndrome, Endometrial stromal sarcoma, 17p13.3 microduplication syndrome, Miller-Dieker syndrome | AD/AR | 12 | 44 |
YWHAG | Epileptic encephalopathy, early infantile, 56 | 3 | 5 | |
YY1 | Gabriele-de Vries syndrome (GADEVS) | AD | 8 | 23 |
ZDHHC9 | Mental retardation, syndromic, Raymond | XL | 9 | 14 |
ZEB2* | Mowat-Wilson syndrome | AD | 154 | 287 |
ZFYVE26 | Spastic paraplegia 15 | AR | 63 | 39 |
ZNHIT3# | PEHO syndrome | 5 | 1 | |
ZSWIM6 | Acromelic frontonasal dysostosis | AD | 4 | 2 |
Noncoding variants covered by the PTC Seizure Seq Panel
Gene | Genomic location HG19 | HGVS | RefSeq | RS-number |
ADSL | Chr22:40742514 | c.-49T>C | NM_000026.2 | |
AIFM1 | ChrX:129274636 | c.697-44T>G | NM_004208.3 | |
AIFM1 | ChrX:129299753 | c.-123G>C | NM_004208.3 | rs724160014 |
ALDH3A2 | Chr17:19561044 | c.681-14T>A/G | NM_001031806.1 | |
ALDH3A2 | Chr17:19561044 | c.681-14T>A | NM_001031806.1 | |
ALDH3A2 | Chr17:19561044 | c.681-14T>G | NM_001031806.1 | |
ALG6 | Chr1:63871975 | c.347-13C>G | NM_013339.3 | |
AMT | Chr3:49459938 | c.-55C>T | NM_000481.3 | rs386833677 |
ARG1 | Chr6:131901748 | c.306-611T>C | NM_000045.3 | |
ARSA | Chr22:51064121 | c.1108-12C>G | NM_000487.5 | rs757806374 |
ARSA | Chr22:51064129 | c.1108-20A>G | NM_000487.5 | |
BCS1L | Chr2:219524871 | c.-147A>G | NM_004328.4 | |
BCS1L | Chr2:219525123 | c.-50+155T>A | NM_004328.4 | rs386833855 |
BTD | Chr3:15683399 | c.310-15delT | NM_000060.2 | rs587783008 |
BTD | Chr3:15687154 | c.*159G>A | NM_000060.2 | rs530872564 |
CACNA1A | Chr19:13317355 | c.*1500_*1504dupCTTTT | NM_001127221.1 | |
CACNA1A | Chr19:13341036 | c.5404-13G>A | NM_001127221.1 | |
CACNA1A | Chr19:13617793 | NM_001127221.1 | rs965852937 | |
CASR | Chr3:121994640 | c.1378-19A>C | NM_001178065.1 | |
CCM2 | Chr7:45115674 | c.*18G>A | NM_001029835.2 | |
CDKL5 | ChrX:18525053 | c.-162-2A>G | NM_003159.2 | rs786204973 |
CLN3 | Chr16:28493392 | c.1056+34C>A | NM_000086.2 | |
CLN3 | Chr16:28497984 | c.461-13G>C | NM_000086.2 | rs386833721 |
CLN6 | Chr15:68506515 | c.297+113G>C | NM_017882.2 | |
COL4A1 | Chr13:110802675 | c.*35C>A | NM_001845.4 | |
COL4A1 | Chr13:110802678 | c.*32G>A/T | NM_001845.4 | |
COL4A1 | Chr13:110802679 | c.*31G>T | NM_001845.4 | |
CSF1R | Chr5:149440654 | c.1859-119G>A | NM_005211.3 | |
D2HGDH | Chr2:242680425 | c.293-23A>G | NM_152783.3 | |
DARS2 | Chr1:173797449 | c.228-22T>A | NM_018122.4 | |
DARS2 | Chr1:173797449 | c.228-22T>C | NM_018122.4 | |
DARS2 | Chr1:173797450 | c.228-21_228-20delTTinsC | NM_018122.4 | |
DARS2 | Chr1:173797450 | c.228-21_228-20delTTinsCC | NM_018122.4 | |
DARS2 | Chr1:173797455 | c.228-16C>A | NM_018122.4 | |
DARS2 | Chr1:173797455 | c.228-16C>G | NM_018122.4 | |
DARS2 | Chr1:173797456 | c.228-15C>G | NM_018122.4 | |
DARS2 | Chr1:173797456 | c.228-15C>A | NM_018122.4 | |
DARS2 | Chr1:173797459 | c.228-12C>A | NM_018122.4 | rs9425753 |
DARS2 | Chr1:173797460 | c.228-11C>G | NM_018122.4 | rs368644758 |
DEPDC5 | Chr22:32150851 | c.-57G>C | NM_001242896.1 | |
DGUOK | Chr2:74177650 | c.444-62C>A | NM_080916.2 | |
DGUOK | Chr2:74177701 | c.444-11C>G | NM_080916.2 | rs536746349 |
DHDDS | Chr1:26774026 | c.441-24A>G | NM_024887.3 | rs764831063 |
DLG3 | ChrX:69665038 | c.-8dupG | NM_021120.3 | |
EFHC1 | Chr6:52284844 | NM_018100.3 | rs559477321 | |
EHMT1 | Chr9:140678546 | c.2382+1697T>G | NM_024757.4 | rs786205602 |
EIF2B5 | Chr3:183855941 | c.685-13C>G | NM_003907.2 | |
ENG | Chr9:130578354 | c.1742-22T>C | NM_001114753.2 | |
ENG | Chr9:130588962 | c.361-11T>A | NM_001114753.2 | |
ENG | Chr9:130616692 | c.-58G>A | NM_001114753.2 | rs971268057 |
ENG | Chr9:130616761 | c.-127C>T | NM_001114753.2 | |
ENG | Chr9:130616776 | c.-142A>T | NM_001114753.2 | |
ETFDH | Chr4:159593534 | c.-75A>G | NM_004453.2 | |
ETFDH | Chr4:159602711 | c.176-636C>G | NM_004453.2 | |
ETHE1 | Chr19:44031407 | NM_014297.3 | ||
FDFT1 | Chr8:11660094 | NM_004462.3 | ||
FDFT1 | Chr8:11689003 | c.880-24_880-23delTCinsAG | NM_004462.3 | |
FGD1 | ChrX:54476768 | c.2016-35delA | NM_004463.2 | |
FGF12 | Chr3:191857076 | c.*4722T>C | NM_021032.4 | |
FKTN | Chr9:108368857 | c.648-1243G>T | NM_006731.2 | |
FLNA | ChrX:153581587 | c.6023-27_6023-16delTGACTGACAGCC | NM_001110556.1 | |
GABRA1 | Chr5:161274418 | c.-248+1G>T | NM_000806.5 | |
GABRB3 | Chr15:27018162 | c.-53G>T | NM_000814.5 | |
GABRB3 | Chr15:27019011 | c.-902A>T | NM_000814.5 | |
GABRB3 | Chr15:27020313 | c.-2204G>A | NM_000814.5 | |
GABRB3 | Chr15:27020399 | c.-2290T>C | NM_000814.5 | rs546389769 |
GALC | Chr14:88401064 | c.*12G>A | NM_000153.3 | rs372641636 |
GALC | Chr14:88459574 | c.-66G>C | NM_000153.3 | rs146439771 |
GALC | Chr14:88459575 | c.-67T>G | NM_000153.3 | rs571945132 |
GALC | Chr14:88459917 | c.-74T>A | NM_001201402.1 | |
GALC | Chr14:88459971 | c.-128C>T | NM_001201402.1 | rs181956126 |
GAMT | Chr19:1399508 | c.391+15G>T | NM_138924.2 | rs367567416 |
GCDH | Chr19:13010271 | c.1244-11A>G | NM_000159.3 | |
GCH1 | Chr14:55369403 | c.-22C>T | NM_000161.2 | |
GJC2 | Chr1:228337558 | c.-170A>G | NM_020435.3 | |
GJC2 | Chr1:228337561 | c.-167A>G | NM_020435.3 | |
GJC2 | Chr1:228337709 | c.-20+1G>C | NM_020435.3 | |
GK | ChrX:30688489 | c.259+2254G>A | NM_001205019.1 | |
GRN | Chr17:42422701 | c.-9A>G | NM_002087.2 | |
GRN | Chr17:42422705 | c.-8+3A>T | NM_002087.2 | rs63751020 |
GRN | Chr17:42422705 | c.-8+3A>G | NM_002087.2 | |
GRN | Chr17:42422707 | c.-8+5G>C | NM_002087.2 | rs63750313 |
HPRT1 | ChrX:133594415 | c.27+47C>T | NM_000194.2 | |
HPRT1 | ChrX:133625464 | c.402+1229A>G | NM_000194.2 | |
HPRT1 | ChrX:133628822 | c.485+1202T>A | NM_000194.2 | |
HPRT1 | ChrX:133632625 | c.533-13T>G | NM_000194.2 | |
IGBP1 | ChrX:69353741 | c.-57_-55delTATinsAA | NM_001551.2 | |
KCNJ10 | Chr1:160039811 | c.-1+1G>T | NM_002241.4 | rs796052606 |
KRIT1 | Chr7:91830748 | c.2026-11T>G | NM_194456.1 | |
KRIT1 | Chr7:91830749 | c.2026-12A>G | NM_194456.1 | |
KRIT1 | Chr7:91844105 | c.1564-14C>G | NM_194456.1 | |
KRIT1 | Chr7:91855154 | c.1147-13C>G | NM_194456.1 | |
KRIT1 | Chr7:91856011 | c.990-15T>A | NM_194456.1 | |
KRIT1 | Chr7:91870173 | c.262+132_262+133delAA | NM_194456.1 | |
L1CAM | ChrX:153128846 | c.3531-12G>A | NM_000425.4 | |
L1CAM | ChrX:153131293 | c.2432-19A>C | NM_000425.4 | |
L1CAM | ChrX:153133652 | c.1704-75G>T | NM_000425.4 | |
L1CAM | ChrX:153133926 | c.1547-14delC | NM_000425.4 | |
L1CAM | ChrX:153136500 | c.523+12C>T | NM_000425.4 | |
L2HGDH | Chr14:50735527 | c.906+354G>A | NM_024884.2 | |
LAMA2 | Chr6:129633984 | c.3175-22G>A | NM_000426.3 | rs777129293 |
LAMA2 | Chr6:129636608 | c.3556-13T>A | NM_000426.3 | rs775278003 |
LAMA2 | Chr6:129714172 | c.5235-18G>A | NM_000426.3 | rs188365084 |
LAMA2 | Chr6:129835506 | c.8989-12C>G | NM_000426.3 | rs144860334 |
MEF2C | Chr5:88179125 | c.-510_-497delTCTTCCTCCTCCTC | NM_002397.4 | |
MLC1 | Chr22:50502853 | c.895-226T>G | NM_015166.3 | |
MLC1 | Chr22:50523373 | c.-42C>T | NM_015166.3 | rs771159578 |
MOCS1 | Chr6:39874534 | c.*365_*366delAG | NM_005943.5 | rs397518419 |
MOCS1 | Chr6:39876810 | c.*7+6T>C | NM_005943.5 | |
MOCS1 | Chr6:39894006 | c.251-418delT | NM_005943.5 | |
MTHFR | Chr1:11850973 | c.1753-18G>A | NM_005957.4 | rs777661576 |
MTHFR | Chr1:11863212 | c.-13-28_-13-27delCT | NM_005957.4 | rs786204005 |
MTM1 | ChrX:149767035 | c.137-19_137-16delACTT | NM_000252.2 | |
MTM1 | ChrX:149767045 | c.137-11T>A | NM_000252.2 | |
MTM1 | ChrX:149783032 | c.232-26_232-23delGACT | NM_000252.2 | |
MTM1 | ChrX:149808833 | c.529-909A>G | NM_000252.2 | |
MTM1 | ChrX:149818176 | c.868-13T>A | NM_000252.2 | |
NDP | ChrX:43818099 | c.-207-1G>A | NM_000266.3 | |
NDP | ChrX:43832545 | c.-208+5G>A | NM_000266.3 | |
NDP | ChrX:43832548 | c.-208+2T>G | NM_000266.3 | |
NDP | ChrX:43832549 | c.-208+1G>A | NM_000266.3 | |
NDP | ChrX:43832685 | c.-343A>G | NM_000266.3 | rs895911086 |
NDP | ChrX:43832722 | c.-391_-380delCTCTCTCTCCCTinsGTCTCTC | NM_000266.3 | |
NDP | ChrX:43832724 | c.-396_-383delTCCCTCTCTCTCTC | NM_000266.3 | rs770996360 |
NDUFAF5 | Chr20:13767051 | c.223-907A>C | NM_024120.4 | |
NDUFAF6 | Chr8:96046914 | c.298-768T>C | NM_152416.3 | rs575462405 |
NDUFAF6 | Chr8:96048588 | c.420+784C>T | NM_152416.3 | rs749738738 |
NOTCH3 | Chr19:15303132 | c.341-26_341-24delAAC | NM_000435.2 | |
NSDHL | ChrX:152037789 | c.*129C>T | NM_015922.2 | rs145978994 |
OCRL | ChrX:128674707 | c.40-14A>G | NM_000276.3 | |
OCRL | ChrX:128687279 | c.239-4023A>G | NM_000276.3 | |
OCRL | ChrX:128696350 | c.940-11G>A | NM_000276.3 | |
OFD1 | ChrX:13768358 | c.935+706A>G | NM_003611.2 | rs730880283 |
OFD1 | ChrX:13773245 | c.1130-22_1130-19delAATT | NM_003611.2 | rs312262865 |
OFD1 | ChrX:13773249 | c.1130-20_1130-16delTTGGT | NM_003611.2 | |
OPA1 | Chr3:193334932 | c.449-34dupA | NM_130837.2 | |
OPA1 | Chr3:193374829 | c.2179-40G>C | NM_130837.2 | |
OTC | ChrX:38202566 | c.-9384G>T | NM_000531.5 | |
OTC | ChrX:38211584 | NM_000531.5 | rs191615506 | |
OTC | ChrX:38211793 | c.-157T>G | NM_000531.5 | |
OTC | ChrX:38211808 | c.-142G>A | NM_000531.5 | |
OTC | ChrX:38211811 | c.-139A>G | NM_000531.5 | |
OTC | ChrX:38211834 | c.-116C>T | NM_000531.5 | |
OTC | ChrX:38211835 | c.-115C>T | NM_000531.5 | |
OTC | ChrX:38211844 | c.-106C>A | NM_000531.5 | rs749748052 |
OTC | ChrX:38260946 | c.540+265G>A | NM_000531.5 | |
OTC | ChrX:38269404 | c.867+1126A>G | NM_000531.5 | |
OTC | ChrX:38272343 | c.1005+1091C>G | NM_000531.5 | |
PAH | Chr12:103232809 | c.*144A>G | NM_000277.1 | rs375319584 |
PAH | Chr12:103237404 | c.1199+20G>C | NM_000277.1 | rs62509018 |
PAH | Chr12:103237407 | c.1199+17G>A | NM_000277.1 | rs62508613 |
PAH | Chr12:103237568 | c.1066-11G>A | NM_000277.1 | rs5030855 |
PAH | Chr12:103237568 | c.1066-12delT | NM_000277.1 | |
PAH | Chr12:103237570 | c.1066-13T>G | NM_000277.1 | |
PAH | Chr12:103237571 | c.1066-14C>G | NM_000277.1 | rs62507334 |
PAH | Chr12:103238075 | c.1065+39G>T | NM_000277.1 | rs62510582 |
PAH | Chr12:103260355 | c.509+15_509+18delCTTG | NM_000277.1 | rs1335303703 |
PAH | Chr12:103288709 | c.169-13T>G | NM_000277.1 | rs62507341 |
PAX6 | Chr11:31685945 | c.*125537G>T | NM_000280.4 | rs606231388 |
PAX6 | Chr11:31812434 | c.1033-42_1033-26delATGTGTTCCTCAGTAACinsG | NM_000280.4 | |
PAX6 | Chr11:31816377 | c.524-41T>G | NM_000280.4 | |
PAX6 | Chr11:31823338 | c.142-14C>G | NM_000280.4 | rs1131692291 |
PAX6 | Chr11:31828391 | c.-52+5delG | NM_000280.4 | |
PAX6 | Chr11:31828391 | c.-52+3_-52+6delAAGTinsTG | NM_000280.4 | |
PAX6 | Chr11:31828392 | c.-52+3_-52+4delAA | NM_000280.4 | |
PAX6 | Chr11:31828395 | c.-52+1delG | NM_000280.4 | |
PAX6 | Chr11:31828396 | c.-52+1G>A | NM_000280.4 | |
PAX6 | Chr11:31828456 | c.-115_-112delACTA | NM_000280.4 | rs1011844558 |
PAX6 | Chr11:31828461 | c.-118_-117delTT | NM_000280.4 | |
PAX6 | Chr11:31828469 | c.-125dupG | NM_000280.4 | |
PAX6 | Chr11:31828474 | c.-128-1G>T | NM_000280.4 | |
PAX6 | Chr11:31828474 | c.-128-2delA | NM_000280.4 | rs1131692282 |
PAX6 | Chr11:31832372 | c.-138_-129+3delCCTCATAAAGGTG | NM_000280.4 | |
PAX6 | Chr11:31832374 | c.-129+2T>A | NM_000280.4 | |
PAX6 | Chr11:31832375 | c.-129+1G>A | NM_000280.4 | |
PDCD10 | Chr3:167405494 | c.396-31_396-13delTAGCTGATATTCTTTATTCinsA | NM_007217.3 | |
PDHA1 | ChrX:19371182 | c.533-17_533-14delTGTT | NM_001173454.1 | |
PDHA1 | ChrX:19372579 | c.625-30G>A | NM_001173454.1 | |
PDHA1 | ChrX:19373648 | c.873+26G>A | NM_001173454.1 | |
PDHA1 | ChrX:19377849 | c.*79_*90dupAGTCAATGAAAT | NM_001173454.1 | rs606231192 |
PDHA1 | ChrX:19377861 | c.*79_*90dupAGTCAATGAAAT | NM_001173454.1 | |
PDHX | Chr11:34988372 | c.816+11C>G | NM_003477.2 | |
PEX6 | Chr6:42933858 | c.2301-15C>G | NM_000287.3 | rs267608236 |
PEX6 | Chr6:42933952 | c.2300+28G>A | NM_000287.3 | rs267608237 |
PGK1 | ChrX:77381262 | c.1214-25T>G | NM_000291.3 | |
PLP1 | ChrX:103031997 | c.4+78_4+85delGGGGGTTC | NM_000533.3 | |
PLP1 | ChrX:103041680 | c.453+28_453+46delTAACAAGGGGTGGGGGAAA | NM_000533.3 | |
PLP1 | ChrX:103042405 | c.454-322G>A | NM_000533.3 | |
PLP1 | ChrX:103042413 | c.454-314T>A/G | NM_000533.3 | |
PLP1 | ChrX:103042413 | c.454-314T>A | NM_000533.3 | |
PLP1 | ChrX:103042413 | c.454-314T>G | NM_000533.3 | |
PNKP | Chr19:50364799 | c.1387-33_1386+49delCCTCCTCCCCTGACCCC | NM_007254.3 | rs752902474 |
POLR3A | Chr10:79737218 | c.*18C>T | NM_007055.3 | |
POLR3A | Chr10:79743781 | c.3337-11T>C | NM_007055.3 | |
POLR3A | Chr10:79769273 | c.1909+22G>A | NM_007055.3 | rs191875469 |
POLR3A | Chr10:79769277 | c.1909+18G>A | NM_007055.3 | rs267608677 |
POLR3B | Chr12:106804589 | c.967-15A>G | NM_018082.5 | |
POLR3B | Chr12:106831447 | c.1857-12A>G | NM_018082.5 | rs528038639 |
POMT1 | Chr9:134379574 | c.-30-2A>G | NM_007171.3 | |
PORCN | ChrX:48370668 | c.374-46T>A | NM_203475.1 | |
PORCN | ChrX:48370699 | c.374-15G>A | NM_203475.1 | |
PPT1 | Chr1:40539203 | c.*526_*529delATCA | NM_000310.3 | rs386833624 |
PPT1 | Chr1:40558194 | c.125-15T>G | NM_000310.3 | rs386833629 |
PRRT2 | Chr16:29825620 | c.*345G>A | NM_001256443.1 | |
PSAP | Chr10:73583679 | c.778-26C>A | NM_001042465.1 | |
PTCH1 | Chr9:98226337 | c.2561-2057A>G | NM_000264.3 | |
PTEN | Chr10:89622883–89623482 | |||
PTEN | Chr10:89622988 | c.-1239A>G | NM_000314.6 | |
PTEN | Chr10:89623049 | c.-1178C>T | NM_000314.6 | |
PTEN | Chr10:89623056 | c.-1171C>T | NM_000314.6 | rs587779981 |
PTEN | Chr10:89623116 | c.-1111A>G | NM_000314.6 | |
PTEN | Chr10:89623226 | c.-1001T>C | NM_000314.4 | |
PTEN | Chr10:89623296 | c.-931G>A | NM_000314.4 | rs587781959 |
PTEN | Chr10:89623306 | c.-921G>T | NM_000314.4 | |
PTEN | Chr10:89623331 | c.-896T>C | NM_000314.4 | |
PTEN | Chr10:89623365 | c.-862G>T | NM_000314.4 | rs587776675 |
PTEN | Chr10:89623373 | c.-854C>G | NM_000314.4 | |
PTEN | Chr10:89623392 | c.-835C>T | NM_000314.4 | rs587779994 |
PTEN | Chr10:89623428 | c.-799G>C | NM_000314.4 | rs587779992 |
PTEN | Chr10:89623462 | c.-765G>A | NM_000314.4 | |
PTEN | Chr10:89690791 | c.210-8dupT | NM_000314.4 | |
PTEN | Chr10:89692749 | c.254-21G>C | NM_000314.4 | |
PTEN | Chr10:89725294 | c.*65T>A | NM_000314.4 | |
PTEN | Chr10:89725304 | c.*75_*92delTAATGGCAATAGGACATTinsCTATGGCAATAGGACATTG | NM_000314.4 | |
PTS | Chr11:112098994 | c.84-323A>T | NM_000317.2 | rs794726657 |
PTS | Chr11:112099026 | c.84-291A>G | NM_000317.2 | |
PTS | Chr11:112100215 | c.164-716A>T | NM_000317.2 | |
PTS | Chr11:112101310 | c.187-38dupG | NM_000317.2 | |
QDPR | Chr4:17500790 | c.436+2552A>G | NM_000320.2 | |
RARS2 | Chr6:88244587 | c.613-3927C>T | NM_020320.3 | |
RNASEH2B | Chr13:51501530 | c.65-13G>A | NM_024570.3 | |
RNASEH2B | Chr13:51519550 | c.511-13G>A | NM_024570.3 | |
ROGDI | Chr16:4852483 | c.46-30_45+37delGGCGGGGC | NM_024589.2 | rs786205125 |
RPS6KA3 | ChrX:20191268 | c.1228-279T>G | NM_004586.2 | |
RPS6KA3 | ChrX:20213274 | c.326-11A>G | NM_004586.2 | |
RTTN | Chr18:67727297 | c.4748-19T>A | NM_173630.3 | |
RTTN | Chr18:67815044 | c.2309+1093G>A | NM_173630.3 | |
SCN1A | Chr2:166848946 | c.4820-14T>G | NM_006920.4 | |
SCN1A | Chr2:166854699 | c.4306-14T>G | NM_006920.4 | |
SCN1A | Chr2:166908215 | c.964+14T>G | NM_006920.4 | rs794726837 |
SCN1A | Chr2:166911289 | c.474-13T>A | NM_006920.4 | rs1057520357 |
SERAC1 | Chr6:158576548 | c.92-165C>T | NM_032861.3 | |
SERAC1 | Chr6:158576622 | c.92-239G>C | NM_032861.3 | |
SGSH | Chr17:78190802 | c.249+27_249+28delGG | NM_000199.3 | |
SHH | Chr7:155599270 | c.301-19G>A | NM_000193.2 | |
SHH | Chr7:156061506 | c.-456690G>A | NM_000193.2 | |
SHH | Chr7:156583831 | c.-979015A>G | NM_000193.2 | rs606231150 |
SHH | Chr7:156583949 | c.-979133C>G | NM_000193.2 | rs606231151 |
SHH | Chr7:156583951 | c.-979135C>T | NM_000193.2 | |
SHH | Chr7:156584107 | c.-979291T>G | NM_000193.2 | |
SHH | Chr7:156584153 | c.-979337A>G | NM_000193.2 | |
SHH | Chr7:156584164 | c.-979348A>G | NM_000193.2 | |
SHH | Chr7:156584166 | c.-979350G>C/T | NM_000193.2 | |
SHH | Chr7:156584166 | c.-979350G>A | NM_000193.2 | rs606231147 |
SHH | Chr7:156584168 | c.-979352C>T | NM_000193.2 | rs587779752 |
SHH | Chr7:156584241 | c.-979425T>C | NM_000193.2 | rs606231149 |
SHH | Chr7:156584265 | c.-979449A>T | NM_000193.2 | rs606231148 |
SHH | Chr7:156584275 | c.-979459T>C | NM_000193.2 | rs606231152 |
SHH | Chr7:156584283 | c.-979467C>A | NM_000193.2 | |
SHH | Chr7:156584465 | c.-979649C>G | NM_000193.2 | rs606231146 |
SHH | Chr7:156584863 | c.-980047C>T | NM_000193.2 | |
SLC19A3 | Chr2:228560811 | c.980-14A>G | NM_025243.3 | rs200542114 |
SLC2A1 | Chr1:43395462 | c.680-11G>A | NM_006516.2 | |
SLC2A1 | Chr1:43424429 | c.-107G>A | NM_006516.2 | |
SNORD118 | Chr17:8076761 | NR_033294.1 | rs116395281 | |
SNORD118 | Chr17:8076761 | NR_033294.1 | ||
SNORD118 | Chr17:8076762 | NR_033294.1 | rs201787275 | |
SOX10 | Chr22:38379877 | c.-84-2A>T | NM_006941.3 | |
SOX10 | Chr22:38412215 | c.-31954C>T | NM_006941.3 | rs606231342 |
SOX10 | Chr22:38412781 | c.-32520C>G | NM_006941.3 | rs533778281 |
SPTAN1 | Chr9:131390187 | c.6690-17G>A | NM_001130438.2 | rs796053325 |
STAMBP | Chr2:74077998 | c.1005+358A>G | NM_006463.4 | |
SURF1 | Chr9:136220806 | c.324-11T>G | NM_003172.3 | rs375398247 |
TAF1 | ChrX:70749635 | rs397509359 | ||
TBCD | Chr17:80851411 | c.1564-12C>G | NM_005993.4 | |
TIMM8A | ChrX:100601671 | c.133-23A>C | NM_004085.3 | |
TPP1 | Chr11:6637752 | c.887-18A>G | NM_000391.3 | |
TSC1 | Chr9:135800306 | c.363+668G>A | NM_000368.4 | |
TSC2 | Chr16:2098067 | c.-30+1G>C | NM_000548.3 | rs587778004 |
TSC2 | Chr16:2106052 | c.600-145C>T | NM_000548.3 | |
TSC2 | Chr16:2107460 | c.848+281C>T | NM_000548.3 | rs45517132 |
TSC2 | Chr16:2110656 | c.976-15G>A | NM_000548.3 | rs45517150 |
TSC2 | Chr16:2127477 | c.2838-122G>A | NM_000548.3 | |
TSC2 | Chr16:2138031 | c.5069-18A>G | NM_000548.3 | rs45484794 |
TTC19 | Chr17:15903121 | c.-42G>T | NM_017775.3 | rs769078093 |
TUBA8 | Chr22:18604221 | c.4-21_4-8delGTTGCTTCCCTCTC | NM_018943.2 | |
TUBA8 | Chr22:18604221 | c.4-21_4-8delGTTGCTTCCCTCTC | NM_018943.2 | |
WDR45 | ChrX:48934430 | c.236-18A>G | NM_007075.3 | |
WFS1 | Chr4:6271704 | c.-43G>T | NM_006005.3 | |
YWHAE | Chr17:1303862 | c.-458G>T | NM_006761.4 | |
ZEB2 | Chr2:145274987 | c.-69-1G>A | NM_014795.3 | |
ZEB2 | Chr2:145274988 | c.-69-2A>C | NM_014795.3 |