Blueprint Genetics / PTC Seizure Seq Panel

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

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Last modified: April 28, 2022