Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AARS gene AARS Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 29, OMIM:616339;Developmental and epileptic encephalopathy, 29, MONDO:0014593 25817015;28493438 False 3 67;33;0 8.355 False ENSG00000090861 ENSG00000090861 HGNC:20 AARS2 gene AARS2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only);Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 8, 614096;infantile mitochondrial cardiomyopathy 27604308 False 3 100;0;0 8.355 False ENSG00000124608 ENSG00000124608 HGNC:21022 AASS gene AASS London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperlysinemia, OMIM:238700;Hyperlysinemia (disease), MONDO:0009388 27604308 False 3 0;100;0 8.355 False ENSG00000008311 ENSG00000008311 HGNC:17366 ABAT gene ABAT Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal GABA-transaminase deficiency 613163 20052547;27376954;27903293;10407778 False 3 75;25;0 8.355 False ENSG00000183044 ENSG00000183044 HGNC:23 ABAT gene ABAT London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 613163;GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate);mtDNA depletion syndrome 27604308 False 3 75;0;25 8.355 False ENSG00000183044 ENSG00000183044 HGNC:23 ABCA1 gene ABCA1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Tangier disease (Disorders of high density lipoprotein metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000165029 ENSG00000165029 HGNC:29 ABCB11 gene ABCB11 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport);Cholestasis, benign recurrent intrahepatic, 2 605479;Cholestasis, progressive familial intrahepatic 2 601847 27604308 False 3 100;0;0 8.355 False ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Gallbladder disease 1 600803 AD, AR;Cholestasis, progressive familial intrahepatic 3 602347 AR;Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport);Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR 27604308 False 3 100;0;0 8.355 False ENSG00000005471 ENSG00000005471 HGNC:45 ABCB7 gene ABCB7 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, with ataxia OMIM:301310;X-linked sideroblastic anemia with ataxia MONDO:0010524 27604308 False 3 50;0;50 8.355 False ENSG00000131269 ENSG00000131269 HGNC:48 ABCD1 gene ABCD1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation);Adrenoleukodystrophy 300100 27604308 False 3 0;100;0 8.355 False ENSG00000101986 ENSG00000101986 HGNC:61 ABCD4 gene ABCD4 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblJ type 27604308;23141461;25234635 False 3 0;0;0 8.355 False ENSG00000119688 ENSG00000119688 HGNC:68 ABCG5 gene ABCG5 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Sitosterolaemia (Inherited hypercholesterolaemias);Familial hypercholesterolaemia 27604308 False 3 100;0;0 8.355 False ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Sitosterolaemia (Inherited hypercholesterolaemias);Familial hypercholesterolaemia 27604308 False 3 100;0;0 8.355 False ENSG00000143921 ENSG00000143921 HGNC:13887 ABHD12 gene ABHD12 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hereditary ataxia;Posterior segment abnormalities;Congenital hearing impairment (profound/severe);PHARC syndrome (Disorders of complex lipid synthesis) 27604308 False 3 100;0;0 8.355 False ENSG00000100997 ENSG00000100997 HGNC:15868 ABHD5 gene ABHD5 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Chanarin-Dorfman syndrome 275630;Neutral lipid storage disease (Disorders of lipolysis) 27604308 False 3 100;0;0 8.355 False ENSG00000011198 ENSG00000011198 HGNC:21396 ACAD8 gene ACAD8 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Isobutyric aciduria (Organic acidurias) 27604308 False 3 100;0;0 8.355 False ENSG00000151498 ENSG00000151498 HGNC:87 ACAD9 gene ACAD9 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency due to ACAD9 deficiency;ACAD9 deficiency, 611126;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Isolated complex I deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of;Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) 27604308;24816252 False 3 33;33;33 8.355 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADS gene ACADS NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of 27604308;24816252 False 3 0;0;100 8.355 False ENSG00000122971 ENSG00000122971 HGNC:90 ACADSB gene ACADSB NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 2-methylbutyrylglycinuria 610006;2-Methylbutyric aciduria (Organic acidurias) 27604308 False 3 0;0;100 8.355 False ENSG00000196177 ENSG00000196177 HGNC:91 ACADVL gene ACADVL NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency;Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) 27604308 False 3 50;0;50 8.355 False ENSG00000072778 ENSG00000072778 HGNC:92 ACAT1 gene ACAT1 NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism);Fasting intolerance with acidosis, ? residual neurological problems;3-Oxothiolase deficiency (Organic acidurias) 27604308 False 3 0;0;100 8.355 False ENSG00000075239 ENSG00000075239 HGNC:93 ACO2 gene ACO2 NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, 614559 34056600 False 3 100;0;0 8.355 False ENSG00000100412 ENSG00000100412 HGNC:118 ACOX1 gene ACOX1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 27604308 False 3 0;0;0 8.355 False ENSG00000161533 ENSG00000161533 HGNC:119 ACOX1 gene ACOX1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470;Mitchell syndrome, OMIM:618960 18536048;32169171 False 3 67;33;0 8.355 False ENSG00000161533 ENSG00000161533 HGNC:119 ACSF3 gene ACSF3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined methylmalonic and malonic aciduria (Organic acidurias);Combined malonic and methylmalonic aciduria 27604308 False 3 0;100;0 8.355 False ENSG00000176715 ENSG00000176715 HGNC:27288 ACTL6B gene ACTL6B Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 76, OMIM:618468 31031012;30656450;26539891;27171548;30237576 False 3 67;33;0 8.355 False ENSG00000077080 ENSG00000077080 HGNC:160 ACY1 gene ACY1 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Aminoacylase 1 deficiency (Organic acidurias) 27604308 False 3 100;0;0 8.355 False ENSG00000243989 ENSG00000243989 HGNC:177 ADA gene ADA Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined B and T cell defect;Adenosine deaminase deficiency (Disorders of purine metabolism);SCID;Infantile enterocolitis & monogenic inflammatory bowel disease 27604308 False 3 100;0;0 8.355 False ENSG00000196839 ENSG00000196839 HGNC:186 ADAR gene ADAR Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010 27937139;24011626 False 3 67;33;0 8.355 False ENSG00000160710 ENSG00000160710 HGNC:225 ADAR gene ADAR London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010;Dyschromatosis symmetrica hereditaria, OMIM:127400 27604308;12916015;23001123 False 3 0;0;0 8.355 False ENSG00000160710 ENSG00000160710 HGNC:225 ADARB1 gene ADARB1 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 32220291;32719099 False 3 100;0;0 8.355 False ENSG00000197381 ENSG00000197381 HGNC:226 ADGRG1 gene ADGRG1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, bilateral frontoparietal, 606854 False 3 67;33;0 8.355 False ENSG00000205336 ENSG00000205336 HGNC:4512 ADPRHL2 gene ADPRHL2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170;neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 30100084;30401461 False 3 50;50;0 8.355 False ENSG00000116863 ENSG00000116863 HGNC:21304 ADSL gene ADSL Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Adenylosuccinase deficiency Kmoch et al (2000) Hum Mol Genet 9(10): 1501-1513 False 3 83;17;0 8.355 False ENSG00000239900 ENSG00000239900 HGNC:291 ADSL gene ADSL Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Epileptic encephalopathy;Adenylosuccinate lyase deficiency (Disorders of purine metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000239900 ENSG00000239900 HGNC:291 AFF3 gene AFF3 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KINSSHIP syndrome, OMIM:619297 18616733;21677750;25660031;31388108;33961779 False 3 50;50;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000144218 ENSG00000144218 HGNC:6473 AFG3L2 gene AFG3L2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Optic atrophy 12, OMIM:618977;Spinocerebellar ataxia 28, OMIM:610246;Spastic ataxia 5, autosomal recessive, OMIM:614487 27604308 False 3 100;0;0 8.355 False ENSG00000141385 ENSG00000141385 HGNC:315 AGA gene AGA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Aspartylglucosaminuria 27604308 False 3 0;0;0 8.355 False ENSG00000038002 ENSG00000038002 HGNC:318 AGK gene AGK London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA depletion syndrome 10;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Acylglycerol kinase deficiency (Senger syndrome) (Disorders of complex lipid synthesis);Sengers syndrome, 212350;Sengers syndrome 212350;Disorders of mitochondrial lipid metabolism;Cataract 38, autosomal recessive, 614691 27604308 False 3 100;0;0 8.355 False ENSG00000006530 ENSG00000006530 HGNC:21869 AGL gene AGL London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease type III, Cori (Glycogen storage disorders);Glycogen storage disease IIIb, 232400;Glycogen Storage Disorders- Liver;Glycogen Storage Disease;myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance;Glycogen Storage Disease Type III;Glycogen Storage Disorders- Muscle;Glycogen storage disease IIIa, 232400 27604308 False 3 100;0;0 8.355 False ENSG00000162688 ENSG00000162688 HGNC:321 AGPS gene AGPS London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3 600121;Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders) 27604308 False 3 0;0;0 8.355 False ENSG00000018510 ENSG00000018510 HGNC:327 AGXT gene AGXT London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Primary hyperoxaluria type I (Other peroxisomal disorders);Primary hyperoxaluria type I (Disorders of glyoxylate metabolism);Hyperoxaluria, primary, type 1 27604308 False 3 0;0;0 8.355 False ENSG00000172482 ENSG00000172482 HGNC:341 AHCY gene AHCY Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752;Disorders of the metabolism of sulphur amino acids 15024124;16435181;16736098;20852937;22959829;26095522;26527160;28779239;30121674;31957987 False 3 50;0;50 8.355 False ENSG00000101444 ENSG00000101444 HGNC:343 AIFM1 gene AIFM1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Disorders of mitochondrial apoptosis;Cowchock syndrome, 310490;Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Combined oxidative phosphorylation deficiency 6, 300816 27604308 False 3 100;0;0 8.355 False ENSG00000156709 ENSG00000156709 HGNC:8768 AIMP1 gene AIMP1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 3, OMIM:260600 False 3 67;33;0 8.355 False ENSG00000164022 ENSG00000164022 HGNC:10648 AKR1D1 gene AKR1D1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis);Bile acid synthesis defect, congenital, 2 235555 27604308;24816252 False 3 100;0;0 8.355 False ENSG00000122787 ENSG00000122787 HGNC:388 AKT3 gene AKT3 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 21159799;22729224 False 3 67;33;0 8.355 False ENSG00000117020 ENSG00000117020 HGNC:393 ALAD gene ALAD London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal {Lead poisoning, susceptibility to} 612740;Acute hepatic porphyria (Acute neuropathic porphyrias);Porphyria, acute hepatic 612740 27604308 False 3 100;0;0 8.355 False ENSG00000148218 ENSG00000148218 HGNC:395 ALAS2 gene ALAS2 Expert Review Green;Expert list;London North GLH;NHS GMS Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Anemia, sideroblastic, 1, OMIM:300751;Protoporphyria, erythropoietic, X-linked, OMIM:300752 27604308 False 3 100;0;0 8.355 False ENSG00000158578 ENSG00000158578 HGNC:397 ALDH18A1 gene ALDH18A1 Expert list;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cutis laxa, autosomal dominant 3 OMIM:616603;cutis laxa, autosomal dominant 3 MONDO:0014706;Cutis laxa, autosomal recessive, type IIIA OMIM:219150;ALDH18A1-related de Barsy syndrome MONDO:0009053;Spastic paraplegia 9A, autosomal dominant OMIM:601162;hereditary spastic paraplegia 9A MONDO:0011006;Spastic paraplegia 9B, autosomal recessive OMIM:616586;autosomal recessive complex spastic paraplegia type 9B MONDO:0014702 27604308;24816252;29903433;11092761;22170564;26320891 False 3 100;0;0 8.355 False ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH3A2 gene ALDH3A2 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome, OMIM:270200 27604308 False 3 100;0;0 8.355 False ENSG00000072210 ENSG00000072210 HGNC:403 ALDH4A1 gene ALDH4A1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Hyperprolinaemia type II (Disorders of ornithine or proline metabolism);Hyperprolinemia, type II 27604308 False 3 0;0;0 8.355 False ENSG00000159423 ENSG00000159423 HGNC:406 ALDH5A1 gene ALDH5A1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency OMIM:271980;succinic semialdehyde dehydrogenase deficiency MONDO:0010083 27604308;9683595;14635103;32402538 False 3 0;0;0 8.355 False ENSG00000112294 ENSG00000112294 HGNC:408 ALDH5A1 gene ALDH5A1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency OMIM:271980;succinic semialdehyde dehydrogenase deficiency MONDO:0010083 9683595;14635103;32402538 False 3 67;33;0 8.355 False ENSG00000112294 ENSG00000112294 HGNC:408 ALDH6A1 gene ALDH6A1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Methylmalonate semialdehyde dehydrogenase deficiency 614105;3-Hydroxyisobutyric aciduria (Organic acidurias);Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias) 27604308 False 3 100;0;0 8.355 False ENSG00000119711 ENSG00000119711 HGNC:7179 ALDH7A1 gene ALDH7A1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, pyridoxine-dependent 266100 16491085;17068770;17721876 False 3 29;14;57 8.355 False ENSG00000164904 ENSG00000164904 HGNC:877 ALDH7A1 gene ALDH7A1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, pyridoxine-dependent 27604308 False 3 0;0;0 8.355 False ENSG00000164904 ENSG00000164904 HGNC:877 ALDOA gene ALDOA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Aldolase A deficiency (Glycogen storage disorders);Glycogen storage disease XII, 611881 27604308 False 3 100;0;0 8.355 False ENSG00000149925 ENSG00000149925 HGNC:414 ALDOB gene ALDOB London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal hereditary fructose intolerance;Hereditary fructose intolerance (Disorders of fructose metabolism);acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation 27604308 False 3 0;0;0 8.355 False ENSG00000136872 ENSG00000136872 HGNC:417 ALG1 gene ALG1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ik 608540 False 3 67;33;0 8.355 False ENSG00000033011 ENSG00000033011 HGNC:18294 ALG1 gene ALG1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Ik 608540 22966035;14973782;26931382 False 3 0;0;0 8.355 False ENSG00000033011 ENSG00000033011 HGNC:18294 ALG11 gene ALG11 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ALG11-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Ip 613661 27604308 False 3 0;0;0 8.355 False ENSG00000253710 ENSG00000253710 HGNC:32456 ALG11 gene ALG11 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Other;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ip False 3 67;33;0 8.355 False ENSG00000253710 ENSG00000253710 HGNC:32456 ALG12 gene ALG12 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig 607143;Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) 27604308;17506107;11983712 False 3 0;0;0 8.355 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG13 gene ALG13 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Congenital disorder of glycosylation, type Is;Infantile spasms and LGS 23033978;23934111 False 3 83;17;0 8.355 False ENSG00000101901 ENSG00000101901 HGNC:30881 ALG14 gene ALG14 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227;Congenital myasthenic sydrome (Disorders of protein N-glycosylation) 27604308;28733338;23404334;30221345 False 3 100;0;0 8.355 False ENSG00000172339 ENSG00000172339 HGNC:28287 ALG14 gene ALG14 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome;?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 28733338;23404334;30221345 False 3 100;0;0 8.355 False ENSG00000172339 ENSG00000172339 HGNC:28287 ALG3 gene ALG3 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id 601110 False 3 67;33;0 8.355 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG3 gene ALG3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Id 601110;Mannosyltransferase 6 deficiency (Disorders of protein N-glycosylation);ALG3-CDG (Disorders of protein N-glycosylation) 15108280;19862844 False 3 0;0;0 8.355 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic 603147 False 3 67;33;0 8.355 False ENSG00000088035 ENSG00000088035 HGNC:23157 ALG6 gene ALG6 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic 603147;Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation) 27604308 False 3 0;0;0 8.355 False ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ih 608104 26066342;23430830;19688606 False 3 50;25;25 8.355 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALG8 gene ALG8 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Ih 608104 27604308 False 3 0;0;0 8.355 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type Il 608776 False 3 67;33;0 8.355 False ENSG00000086848 ENSG00000086848 HGNC:15672 ALG9 gene ALG9 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation);ALG9-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Il 608776 27604308 False 3 0;0;0 8.355 False ENSG00000086848 ENSG00000086848 HGNC:15672 ALKBH8 gene ALKBH8 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Review;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 71, OMIM:618504 31079898;33544954;34757492;35571055 False 3 50;50;0 8.355 False ENSG00000137760 ENSG00000137760 HGNC:25189 ALPL gene ALPL Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal "Hypophosphatasia, adult 146300 AD, AR;Hypophosphatasia, childhood 241510 AR;Hypophosphatasia, infantile 241500 AR;Odontohypophosphatasia 146300 AD, AR" 11999978;28802630;23479201;27086862;30655187;30083035;30979546 False 3 60;40;0 8.355 False ENSG00000162551 ENSG00000162551 HGNC:438 ALPL gene ALPL Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypophosphatasia, adult 146300;Hypophosphatasia, childhood 241510;Hypophosphatasia, infantile241500;Odontohypophosphatasia 146300 27604308;11745997;1409720;17213282 False 3 0;0;0 8.355 False ENSG00000162551 ENSG00000162551 HGNC:438 AMACR gene AMACR London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Alpha-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) 27604308 False 3 0;0;0 8.355 False ENSG00000242110 ENSG00000242110 HGNC:451 AMN gene AMN London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intrinsic factor receptor deficiency due to AMN mutations (Disorders of cobalamin absorption, transport and metabolism);Proteinuric renal disease;Unexplained kidney failure in young people 27604308 False 3 0;0;0 8.355 False ENSG00000166126 ENSG00000166126 HGNC:14604 AMPD2 gene AMPD2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 9 615809 False 3 67;33;0 8.355 False ENSG00000116337 ENSG00000116337 HGNC:469 AMT gene AMT London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy 27604308 False 3 0;0;0 8.355 False ENSG00000145020 ENSG00000145020 HGNC:473 AMT gene AMT Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy 605899 False 3 67;33;0 8.355 False ENSG00000145020 ENSG00000145020 HGNC:473 ANKRD11 gene ANKRD11 Expert Review Green;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KBG syndrome, 148050 29565525;30182498 False 3 100;0;0 8.355 False ENSG00000167522 ENSG00000167522 HGNC:21316 ANO10 gene ANO10 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 10, 613728 False 3 50;0;50 8.355 False ENSG00000160746 ENSG00000160746 HGNC:25519 AP1G1 gene AP1G1 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (NDD);Intellectual Disability;Epilepsy 34102099 False 3 100;0;0 8.355 False ENSG00000166747 ENSG00000166747 HGNC:555 AP2M1 gene AP2M1 Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder 60 with seizures, 618587;Seizures;Ataxia;Generalized hypotonia;Intellectual disability;Global developmental delay;Autistic behavior 31104773 False 3 75;25;0 8.355 False Other ENSG00000161203 ENSG00000161203 HGNC:564 AP3B2 gene AP3B2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Literature;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 48 617276 27889060 False 3 75;25;0 8.355 False ENSG00000103723 ENSG00000103723 HGNC:567 APC2 gene APC2 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 10 OMIM:618677 31585108;25753423;19759310;22573669 False 3 50;50;0 8.355 False ENSG00000115266 ENSG00000115266 HGNC:24036 APOA1 gene APOA1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amyloidosis, 3 or more types OMIM:105200;familial visceral amyloidosis MONDO:0007099;ApoA-I and apoC-III deficiency, combined OMIM:618463;Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding OMIM:618463;hypoalphalipoproteinemia, primary, 2 MONDO:0032766 27604308;26515634;12050338;32022753 False 3 100;0;0 8.355 False ENSG00000118137 ENSG00000118137 HGNC:600 APOA5 gene APOA5 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hyperchylomicronemia, late-onset OMIM:144650;hyperlipoproteinemia type V MONDO:0007762;{Hypertriglyceridemia, susceptibility to} OMIM:145750;hypertriglyceridemia, familial MONDO:0007788 27604308;27678447;16200213;12417525;23307945 False 3 100;0;0 8.355 False ENSG00000110243 ENSG00000110243 HGNC:17288 APOB gene APOB Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypercholesterolemia, familial, 2 OMIM:144010;hypercholesterolemia, autosomal dominant, type B MONDO:0007751;Hypobetalipoproteinemia OMIM:615558;familial hypobetalipoproteinemia 1 MONDO:0014252 27604308 False 3 100;0;0 8.355 False ENSG00000084674 ENSG00000084674 HGNC:603 APOC2 gene APOC2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperlipoproteinemia, type Ib 207750;Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) 27604308 False 3 100;0;0 8.355 False ENSG00000234906 ENSG00000234906 HGNC:609 APOE gene APOE London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias);Hyperlipoproteinemia, type III 617347;Sea-blue histiocyte disease 269600;Lipoprotein glomerulopathy 611771 27604308;24816252 False 3 100;0;0 8.355 False ENSG00000130203 ENSG00000130203 HGNC:613 APOPT1 gene APOPT1 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061;Isolated complex IV deficiency False 3 100;0;0 8.355 False ENSG00000256053 ENSG00000256053 HGNC:20492 APRT gene APRT London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Adenine phosphoribosyltransferase deficiency 614723;Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000198931 ENSG00000198931 HGNC:626 APTX gene APTX London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Ataxia with oculomotor apraxia 1;Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920;Disorders of ubiquinone metabolism and biosynthesis 27604308 False 3 50;0;50 8.355 False ENSG00000137074 ENSG00000137074 HGNC:15984 ARF1 gene ARF1 NHS GMS;Expert Review Green;Expert list Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 8, OMIM:618185 28868155;34353862 False 3 100;0;0 8.355 False ENSG00000143761 ENSG00000143761 HGNC:652 ARFGEF1 gene ARFGEF1 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, MONDO:0001071;Epilepsy, MONDO:0005027;Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures, OMIM:619964 34113008 False 3 100;0;0 8.355 False ENSG00000066777 ENSG00000066777 HGNC:15772 ARFGEF2 gene ARFGEF2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Periventricular heterotopia with microcephaly 608097 False 3 67;33;0 8.355 False ENSG00000124198 ENSG00000124198 HGNC:15853 ARG1 gene ARG1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Argininaemia (Urea cycle disorders and inherited hyperammonaemias);Argininemia, OMIM:207800 27604308 False 3 0;0;0 8.355 False ENSG00000118520 ENSG00000118520 HGNC:663 ARG1 gene ARG1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Argininemia, OMIM:207800 26310552;1463019 False 3 67;33;0 8.355 False ENSG00000118520 ENSG00000118520 HGNC:663 ARHGEF9 gene ARHGEF9 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Developmental and epileptic encephalopathy 8, OMIM:300607 21633362;15215304;17893116 False 3 86;14;0 8.355 True ENSG00000131089 ENSG00000131089 HGNC:14561 ARID1B gene ARID1B Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 1, 135900 22405089 False 3 75;25;0 8.355 True ENSG00000049618 ENSG00000049618 HGNC:18040 ARSA gene ARSA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy 27604308;24816252 False 3 0;0;0 8.355 False ENSG00000100299 ENSG00000100299 HGNC:713 ARSB gene ARSB London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 6;Mucopolysaccharidosis, Type VI;Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200;Mucopolysaccharidosis Type VI;MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease) 27604308 False 3 0;0;0 8.355 False ENSG00000113273 ENSG00000113273 HGNC:714 ARSE gene ARSE Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Chondrodysplasia punctata, X-linked recessive 302950 False 3 0;0;0 8.355 False ENSG00000157399 ENSG00000157399 HGNC:719 ARV1 gene ARV1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 38 617020 27270415;25558065;26479315 False 3 50;50;0 8.355 False ENSG00000173409 ENSG00000173409 HGNC:29561 ARX gene ARX Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Radboud University Medical Center, Nijmegen;Expert;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Epileptic encephalopathy, early infantile, 1 308350;Hydranencephaly with abnormal genitalia 300215;Lissencephaly, X-linked 2 300215;Mental retardation, X-linked 29 and others 300419;Partington syndrome 309510;Proud syndrome 300004 Tsurusaki et al (2002) Nature 30: 441-445;Kato et al (2004) Hum Mut 23: 147-159;Bienvenu et al (2002) Hum Mol Genet 11(8): 981-991;Partington et al (1998) Am J Med Genet 30: 251-262;35094084 False 3 83;17;0 8.355 False ENSG00000004848 ENSG00000004848 HGNC:18060 ASAH1 gene ASAH1 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability 27604308;29169047;22703880;24164096 False 3 0;0;0 8.355 False ENSG00000104763 ENSG00000104763 HGNC:735 ASAH1 gene ASAH1 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404 Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with progressive myoclonic epilepsy, 159950;SMA with myoclonic epilepsy 8955159;22703880;29169047;24164096;30291339;27026573;29169047;30291339;26526000;25578555;31216804;27723502 False 3 67;33;0 8.355 True ENSG00000104763 ENSG00000104763 HGNC:735 ASH1L gene ASH1L NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 52, OMIM:617796 34373061;25961944;34782621;32469098 False 3 67;33;0 8.355 False ENSG00000116539 ENSG00000116539 HGNC:19088 ASL gene ASL London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria, OMIM:207900;argininosuccinic aciduria, MONDO:0008815 27604308;12384776;17326097;29326055 False 3 0;0;0 8.355 False ENSG00000126522 ENSG00000126522 HGNC:746 ASNS gene ASNS Expert Review Green;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Asparagine synthetase deficiency OMIM:615574 24139043;25227173;27469131;28776279;29279279;29375865 False 3 100;0;0 8.355 False ENSG00000070669 ENSG00000070669 HGNC:753 ASPA gene ASPA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Canavan disease 271900 False 3 67;33;0 8.355 False ENSG00000108381 ENSG00000108381 HGNC:756 ASPA gene ASPA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Canavan disease 27604308 False 3 0;0;0 8.355 False ENSG00000108381 ENSG00000108381 HGNC:756 ASS1 gene ASS1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Citrullinaemia type1 (Urea cycle disorders and inherited hyperammonaemias);Citrullinemia 27604308 False 3 0;0;0 8.355 False ENSG00000130707 ENSG00000130707 HGNC:758 ASXL3 gene ASXL3 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bainbridge-Ropers syndrome, OMIM:615115 35172777;27901041;34436830;33151654 False 3 100;0;0 8.355 False ENSG00000141431 ENSG00000141431 HGNC:29357 ATAD3A gene ATAD3A Expert Review Green;Literature;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harel-Yoon syndrome, OMIM:617183;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810;Lactic acidosis;Methylglutaconic aciduria 27640307 False 3 67;33;0 8.355 False ENSG00000197785 ENSG00000197785 HGNC:25567 ATIC gene ATIC London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;AICAR transformylase deficiency (Disorders of purine metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000138363 ENSG00000138363 HGNC:794 ATN1 gene ATN1 Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494 30827498 False 3 75;25;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000111676 ENSG00000111676 HGNC:3033 ATP13A2 gene ATP13A2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb syndrome False 3 0;0;0 8.355 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP1A1 gene ATP1A1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypomagnesemia;Seizures;Intellectual disability 30388404 False 3 67;33;0 8.355 False ENSG00000163399 ENSG00000163399 HGNC:799 ATP1A2 gene ATP1A2 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alternating hemiplegia of childhood 1, 104290;Migraine, familial basilar, 602481;Migraine, familial hemiplegic, 2, 602481;benign familial infantile convulsions;epilepsy and migraine;occipitotemporal epilepsy;infantile epileptic syndrome 15159495;29610157;28058944;18028407;12953268 False 3 25;25;50 8.355 True ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alternating hemiplegia of childhood 2;Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly;Dystonia-12;CAPOS Syndrome (recurrent mutation) Heinzen et al (2012) Nature Genet 44(9): 1030-1035;de Carvalho Aguiar et al (2004) Neuron 43: 169-175;Demos et al (2014) Orphanet Journal of Rare Diseases 2014, 9:15 False 3 83;17;0 8.355 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP5A1 gene ATP5A1 Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228;Combined oxidative phosphorylation deficiency 22, OMIM: 616045 23596069;23599390;34483339;34954817 False 3 100;0;0 8.355 False ENSG00000152234 ENSG00000152234 HGNC:823 ATP5D gene ATP5D Expert Review Green;Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, 618120 29478781 False 3 0;0;0 8.355 False ENSG00000099624 ENSG00000099624 HGNC:837 ATP5G3 gene ATP5G3 Expert Review Green;NHS GMS Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681 34636445;34954817 False 3 67;33;0 8.355 False ENSG00000154518 ENSG00000154518 HGNC:843 ATP5O gene ATP5O Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359 34954817;35621276 False 3 50;50;0 8.355 False ENSG00000241837 ENSG00000241837 HGNC:850 ATP5O gene ATP5O Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359 34954817;35621276 False 3 50;50;0 8.355 False ENSG00000241837 ENSG00000241837 HGNC:850 ATP6AP1 gene ATP6AP1 Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 47 27231034 False 3 0;0;0 8.355 False ENSG00000071553 ENSG00000071553 HGNC:868 ATP6V0A1 gene ATP6V0A1 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ATP6V0A1-related developmental disorder (monoallelic) 30842224;33057194;34909687;33833240 False 3 75;25;0 8.355 False ENSG00000033627 ENSG00000033627 HGNC:865 ATP6V0A2 gene ATP6V0A2 Wessex and West Midlands GLH;NHS GMS;Literature;Expert Review Green;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIA 219200;Wrinkly skin syndrome 278250 18157129;22773132 False 3 67;33;0 8.355 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP6V0A2 gene ATP6V0A2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies);Cutis laxa, autosomal recessive, type IIA 21920;Wrinkly skin syndrome 278250 27604308 False 3 0;0;0 8.355 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP6V1A gene ATP6V1A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epileptic encephalopathy, infantile or early childhood, 3 618012;Cutis laxa, autosomal recessive, type IID 617403 29668857;28065471 False 3 67;33;0 8.355 False ENSG00000114573 ENSG00000114573 HGNC:851 ATP7A gene ATP7A London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease False 3 0;0;0 8.355 False ENSG00000165240 ENSG00000165240 HGNC:869 ATP7A gene ATP7A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease 309400 7842019;10739752;14635105 False 3 67;33;0 8.355 False ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Wilson disease 27604308 False 3 0;0;0 8.355 False ENSG00000123191 ENSG00000123191 HGNC:870 ATP8B1 gene ATP8B1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 1 211600;Cholestasis, benign recurrent intrahepatic 243300 AR;Cholestasis, intrahepatic, of pregnancy, 1 147480 AD;Byler disease (Disorders of bile acid metabolism and transport) 27604308 False 3 100;0;0 8.355 False ENSG00000081923 ENSG00000081923 HGNC:3706 ATPAF2 gene ATPAF2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273;Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Diseases;Isolated complex V deficiency;Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 14757859;19933271 False 3 50;50;0 8.355 False ENSG00000171953 ENSG00000171953 HGNC:18802 ATRX gene ATRX Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Alpha-thalassemia/mental retardation syndrome, 301040;Mental retardation-hypotonic facies syndrome, X-linked, 309580 25606380;11449489;7697714;11050622;16722615 False 3 86;14;0 8.355 True ENSG00000085224 ENSG00000085224 HGNC:886 AUH gene AUH London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I;Methylglutaconic aciduria type I (Organic acidurias) 27604308 False 3 0;0;0 8.355 False ENSG00000148090 ENSG00000148090 HGNC:890 B3GALNT2 gene B3GALNT2 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 23453667 False 3 0;0;0 8.355 False ENSG00000162885 ENSG00000162885 HGNC:28596 B3GALT6 gene B3GALT6 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, progeroid type, 2 23664117;23664118 False 3 0;0;0 8.355 False ENSG00000176022 ENSG00000176022 HGNC:17978 B3GAT3 gene B3GAT3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600;B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27604308 False 3 0;0;0 8.355 False ENSG00000149541 ENSG00000149541 HGNC:923 B3GLCT gene B3GLCT London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome 261540;O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 23889335;16909395 False 3 0;0;0 8.355 False ENSG00000187676 ENSG00000187676 HGNC:20207 B4GALNT1 gene B4GALNT1 Expert Review Green;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive, OMIM:609195;Hereditary spastic paraplegia 26, MONDO:0012213 23746551;24103911 False 3 100;0;0 8.355 False ENSG00000135454 ENSG00000135454 HGNC:4117 B4GALT1 gene B4GALT1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IId, OMIM:607091 11901181;21920538 False 3 0;0;0 8.355 False ENSG00000086062 ENSG00000086062 HGNC:924 B4GALT7 gene B4GALT7 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome with short stature and limb anomalies 130070;B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies);B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Beta-1,4-galactosyltransferase 7 deficiency (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) 27604308 False 3 0;0;0 8.355 False ENSG00000027847 ENSG00000027847 HGNC:930 BAAT gene BAAT London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypercholanemia, familial 27604308;23415802 False 3 100;0;0 8.355 False ENSG00000136881 ENSG00000136881 HGNC:932 BAP1 gene BAP1 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kury-Isidor syndrome, OMIM:619762 35051358 False 3 100;0;0 8.355 False ENSG00000163930 ENSG00000163930 HGNC:950 BCAT2 gene BCAT2 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) 27604308;14755340;25653144 False 3 50;0;50 8.355 False ENSG00000105552 ENSG00000105552 HGNC:977 BCKDHA gene BCKDHA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ia 248600 2703538;8037208;9582350;31119508;31112740 False 3 67;33;0 8.355 False ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHA gene BCKDHA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ia;BCKD E1 alpha subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) 27604308 False 3 0;0;0 8.355 False ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ib;BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) 27604308 False 3 0;0;0 8.355 False ENSG00000083123 ENSG00000083123 HGNC:987 BCKDHB gene BCKDHB Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ib 248600 31119508;31112740 False 3 67;33;0 8.355 False ENSG00000083123 ENSG00000083123 HGNC:987 BCKDK gene BCKDK Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Branched-chain ketoacid dehydrogenase kinase deficiency 27604308;22956686 False 3 100;0;0 8.355 False ENSG00000103507 ENSG00000103507 HGNC:16902 BCS1L gene BCS1L Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 1 124000;Leigh syndrome 256000;GRACILE syndrome 603358 17403714;12215968;19508421 False 3 67;33;0 8.355 False ENSG00000074582 ENSG00000074582 HGNC:1020 BCS1L gene BCS1L London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Diseases;Isolated complex III deficiency;Mitochondrial Respiratory Chain Complex III Deficiency;Mitochondrial complex III deficiency, nuclear type 1, 124000;Leigh syndrome, 256000;Bjornstad syndrome, 262000;GRACILE syndrome, 603358 27604308 False 3 100;0;0 8.355 False ENSG00000074582 ENSG00000074582 HGNC:1020 BOLA3 gene BOLA3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366);Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple mitochondrial dysfunctions syndrome 2, 614299;Multiple Mitochondrial Dysfunctions Syndrome;Disorders of iron homeostasis 27604308 False 3 100;0;0 8.355 False ENSG00000163170 ENSG00000163170 HGNC:24415 BOLA3 gene BOLA3 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299 24334290;11156534 False 3 67;33;0 8.355 False ENSG00000163170 ENSG00000163170 HGNC:24415 BRAF gene BRAF Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 115150;Noonan syndrome 7 613706;LEOPARD syndrome 3 613707 18039946;19206169 False 3 67;33;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157764 ENSG00000157764 HGNC:1097 BRAT1 gene BRAT1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Rigidity and multifocal seizure syndrome, lethal neonatal 614498 25319849;23035047;22279524 False 3 67;33;0 8.355 False ENSG00000106009 ENSG00000106009 HGNC:21701 BSCL2 gene BSCL2 Wessex and West Midlands GLH;NHS GMS;Literature;Expert Review Green;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924 24896178;26503795;23564749;15181077;30767895;23564749;31369919 False 3 67;33;0 8.355 False ENSG00000168000 ENSG00000168000 HGNC:15832 BTD gene BTD London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency (Disorders of biotin metabolism);Biotinidase deficiency;lactic acidosis with seizures and eczema,immune deficiency 27604308 False 3 0;0;100 8.355 False ENSG00000169814 ENSG00000169814 HGNC:1122 BTD gene BTD Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency 253260 24075304;4073853;3196050;10801053 False 3 29;14;57 8.355 False ENSG00000169814 ENSG00000169814 HGNC:1122 C12orf57 gene C12orf57 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Temtamy syndrome 218340 23453666;24798461;23633300;23453665;29383837 False 3 67;33;0 8.355 False ENSG00000111678 ENSG00000111678 HGNC:29521 C12orf65 gene C12orf65 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 7, OMIM:613559;Spastic paraplegia 55, autosomal recessive, OMIM:615035;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 27604308 False 3 100;0;0 8.355 False ENSG00000130921 ENSG00000130921 HGNC:26784 C19orf12 gene C19orf12 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 43, autosomal recessive, OMIM:615043;Neurodegeneration with brain iron accumulation 4, OMIM: 614298 27604308;21981780;29295770;31087512 False 3 25;0;75 8.355 False ENSG00000131943 ENSG00000131943 HGNC:25443 C19orf70 gene C19orf70 Expert Review Green;Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 37, 618329 27623147;29618761;27485409 False 3 0;0;0 8.355 False ENSG00000174917 ENSG00000174917 HGNC:33702 C1QBP gene C1QBP Expert Review Green;Expert Review;Literature;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 33 617713 28942965 False 3 100;0;0 8.355 False ENSG00000108561 ENSG00000108561 HGNC:1243 C2orf69 gene C2orf69 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 53, OMIM:619423 34038740;33945503 False 3 100;0;0 8.355 False ENSG00000178074 ENSG00000178074 HGNC:26799 CA5A gene CA5A Expert Review Green;NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperammonemia due to carbonic anhydrase VA deficiency;Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias) 27604308 False 3 100;0;0 8.355 False ENSG00000174990 ENSG00000174990 HGNC:1377 CACNA1A gene CACNA1A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 42, OMIM:617106;developmental and epileptic encephalopathy, 42, MONDO:0014917;Episodic ataxia, type 2, OMIM:108500;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 29056246;27476654;11564488;20071244;15452324;8898206;36063114;34267336;33445191;27250579 False 3 38;12;50 8.355 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1B gene CACNA1B Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497;Global developmental delay;Developmental regression;Seizures;Intellectual disability;Abnormality of movement;Progressive Epilepsy-Dyskinesia 30982612;25296916 False 3 67;33;0 8.355 False ENSG00000148408 ENSG00000148408 HGNC:1389 CACNA1C gene CACNA1C NHS GMS;Expert Review Green;Expert list Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Timothy syndrome OMIM:601005;CACNA1C-related disorder 15454078;15863612;28371864 False 3 100;0;0 8.355 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1D gene CACNA1D Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Literature;Literature Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD;Sinoatrial node dysfunction and deafness 614896 AR 28472301;23913001;30698561;30054272 False 3 75;25;0 8.355 True Other ENSG00000157388 ENSG00000157388 HGNC:1391 CACNA1E gene CACNA1E Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Seizures;Dystonia;Congenital contracture;Macrocephaly 29942082;30343943 False 3 75;25;0 8.355 False Other ENSG00000198216 ENSG00000198216 HGNC:1392 CACNA1G gene CACNA1G Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 42 616795 17397049;25558065;28726809;29878067 False 3 67;33;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000006283 ENSG00000006283 HGNC:1394 CACNA1I gene CACNA1I NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with speech impairment and with or without seizures, OMIM:620114 33704440 False 3 100;0;0 8.355 False Other ENSG00000100346 ENSG00000100346 HGNC:1396 CACNA2D2 gene CACNA2D2 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Absence epilepsy;Cerebellar atrophy with seizures and variable developmental delay, 618501 24358150;23339110;11487633;11756448 False 3 40;60;0 8.355 False ENSG00000007402 ENSG00000007402 HGNC:1400 CACNB4 gene CACNB4 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Expert Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Epilepsy, idiopathic generalized, susceptibility to, 9} OMIM:607682;{Epilepsy, juvenile myoclonic, susceptibility to, 6} OMIM:607682;Episodic ataxia, type 5 OMIM:613855;Intellectual disability 20561025;20378313;10762541;32176688;25529582 False 3 0;30;70 8.355 False ENSG00000182389 ENSG00000182389 HGNC:1404 CAD gene CAD Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 50, OMIM:616457 25678555;28007989 False 3 67;33;0 8.355 False ENSG00000084774 ENSG00000084774 HGNC:1424 CAPRIN1 gene CAPRIN1 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Delayed speech and language development;Intellectual disability;Autistic behavior;Seizures 35979925 False 3 100;0;0 8.355 False ENSG00000135387 ENSG00000135387 HGNC:6743 CARS2 gene CARS2 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);No OMIM phenotype;Combined oxidative phosphorylation deficiency 27 616672 25361775;25787132;30139652 False 3 100;0;0 8.355 False ENSG00000134905 ENSG00000134905 HGNC:25695 CARS2 gene CARS2 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 27, 616672 25361775;25787132;30139652;32571458;32348839 False 3 100;0;0 8.355 False ENSG00000134905 ENSG00000134905 HGNC:25695 CASK gene CASK Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749;Mental retardation, with or without nystagmus 300422 21954287;29426960;28783747 False 3 29;14;57 8.355 False ENSG00000147044 ENSG00000147044 HGNC:1497 CAT gene CAT London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acatalasaemia (Other peroxisomal disorders);Acatalasemia, 614097 27604308 False 3 0;0;0 8.355 False ENSG00000121691 ENSG00000121691 HGNC:1516 CBS gene CBS London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Homocystinuria, B6-responsive and nonresponsive types False 3 0;0;0 8.355 False ENSG00000160200 ENSG00000160200 HGNC:1550 CC2D2A gene CC2D2A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal COACH syndrome 216360;Joubert syndrome 9 612285 22241855;19574260 False 3 67;33;0 8.355 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC115 gene CCDC115 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIo 616828 26833332 False 3 0;0;0 8.355 False ENSG00000136710 ENSG00000136710 HGNC:28178 CDK19 gene CDK19 Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile 87 618916 20563892;32330417 False 3 67;33;0 8.355 False ENSG00000155111 ENSG00000155111 HGNC:19338 CDKL5 gene CDKL5 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Radboud University Medical Center, Nijmegen;Expert;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Angelman syndrome-like;Epileptic encephalopathy, early infantile, 2 Kishino et al (1995) Nature Genet 15: 70-73;Tao et al (2004) Am J Hum Genet 75: 1149-1154 False 3 83;17;0 8.355 False ENSG00000008086 ENSG00000008086 HGNC:11411 CELF2 gene CELF2 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 97, OMIM:619561 33131106;34107259 False 3 100;0;0 8.355 False ENSG00000048740 ENSG00000048740 HGNC:2550 CEP85L gene CEP85L Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 10, OMIM:618873;Lissencephaly 10, MONDO:0030031 32097630;32097629 False 3 100;0;0 8.355 False ENSG00000111860 ENSG00000111860 HGNC:21638 CERS1 gene CERS1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Epilepsy, progressive myoclonic, 8 OMIM:616230;progressive myoclonic epilepsy type 8 MONDO:0014545 19243074;30800706;21625621;24782409;33798445;27618929 False 3 67;33;0 8.355 False ENSG00000223802 ENSG00000223802 HGNC:14253 CHCHD10 gene CHCHD10 Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 2;?Myopathy, isolated mitochondrial, autosomal dominant, 616209;Spinal muscular atrophy, Jokela type 31261376 False 3 100;0;0 8.355 False ENSG00000250479 ENSG00000250479 HGNC:15559 CHD2 gene CHD2 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, childhood-onset 615369 False 3 83;17;0 8.355 False ENSG00000173575 ENSG00000173575 HGNC:1917 CHD4 gene CHD4 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sifrim-Hitz-Weiss syndrome, OMIM:617159 27479907;27616479;34109749 False 3 100;0;0 8.355 False ENSG00000111642 ENSG00000111642 HGNC:1919 CHD5 gene CHD5 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted OMIM:610771;Intellectual disability, MONDO:0001071;Epilepsy, MONDO:0005027 33944996 False 3 100;0;0 8.355 False ENSG00000116254 ENSG00000116254 HGNC:16816 CHKA gene CHKA NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Abnormal muscle tone;Global developmental delay;Intellectual disability;Seizures;Microcephaly;Abnormality of movement;Abnormality of nervous system morphology;Short stature 35202461 False 3 100;0;0 8.355 False ENSG00000110721 ENSG00000110721 HGNC:1937 CHKB gene CHKB London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Choline kinase deficiency (Disorders of complex lipid synthesis);Muscular dystrophy, congenital, megaconial type, 602541 27604308 False 3 50;0;50 8.355 False ENSG00000100288 ENSG00000100288 HGNC:1938 CHRNA2 gene CHRNA2 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, nocturnal frontal lobe, type 4 Aridon et al (2006) Am J Hum Genet 79: 342-350 False 3 62;12;25 8.355 False ENSG00000120903 ENSG00000120903 HGNC:1956 CHRNA4 gene CHRNA4 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;UKGTN;Expert Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, nocturnal frontal lobe, 1 600513 7550350;14623738 False 3 71;14;14 8.355 False ENSG00000101204 ENSG00000101204 HGNC:1958 CHRNB2 gene CHRNB2 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;UKGTN;Expert Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, nocturnal frontal lobe, 3 605375 11062464;11104662 False 3 62;12;25 8.355 False ENSG00000160716 ENSG00000160716 HGNC:1962 CHST14 gene CHST14 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1 601776;CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27604308 False 3 0;0;0 8.355 False ENSG00000169105 ENSG00000169105 HGNC:24464 CHST3 gene CHST3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia with congenital joint dislocations 143095;CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 20830804 False 3 0;0;0 8.355 False ENSG00000122863 ENSG00000122863 HGNC:1971 CHST6 gene CHST6 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Macular corneal dystrophy 217800 27604308 False 3 0;0;0 8.355 False ENSG00000183196 ENSG00000183196 HGNC:6938 CHSY1 gene CHSY1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome 605282;CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 24269551;21129727 False 3 0;0;0 8.355 False ENSG00000131873 ENSG00000131873 HGNC:17198 CIC gene CIC Wessex and West Midlands GLH;NHS GMS;Literature;Expert Review Green;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 45 617600 21076407;28288114;24896178 False 3 67;33;0 8.355 False ENSG00000079432 ENSG00000079432 HGNC:14214 CISD2 gene CISD2 Expert Review Green;NHS GMS;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 2 604928 27604308;17846994;25056293;25371195;29237418 False 3 0;0;100 8.355 False ENSG00000145354 ENSG00000145354 HGNC:24212 CLCN3 gene CLCN3 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512;Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 34186028 False 3 100;0;0 8.355 False Other ENSG00000109572 ENSG00000109572 HGNC:2021 CLCN4 gene CLCN4 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Raynaud-Claes syndrome, OMIM:300114 27550844;23647072 False 3 67;33;0 8.355 False ENSG00000073464 ENSG00000073464 HGNC:2022 CLDN16 gene CLDN16 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 3, renal 248250 27604308 False 3 0;0;0 8.355 False ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN19 gene CLDN19 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 5, renal, with ocular involvement 248190 27604308;22422540;17033971 False 3 0;0;0 8.355 False ENSG00000164007 ENSG00000164007 HGNC:2040 CLDN5 gene CLDN5 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted epilepsy, MONDO:0005027 36477332 False 3 100;0;0 8.355 False ENSG00000184113 ENSG00000184113 HGNC:2047 CLN3 gene CLN3 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3 204200 7553855;24827497;30053402 False 3 29;14;57 8.355 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN3 gene CLN3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3, 204200 False 3 0;0;0 8.355 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5 OMIM:256731;neuronal ceroid lipofuscinosis 5 MONDO:0009745 False 3 0;0;0 8.355 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6, 601780;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 False 3 0;0;0 8.355 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Expert Review Green;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8 600143;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003 19431184;16570191;16570191 False 3 17;17;67 8.355 False ENSG00000182372 ENSG00000182372 HGNC:2079 CLN8 gene CLN8 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8 False 3 0;0;0 8.355 False ENSG00000182372 ENSG00000182372 HGNC:2079 CLPB gene CLPB NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271;3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835;Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813 25597510;25597511;26916670;28687938;34140661 False 3 100;0;0 8.355 False ENSG00000162129 ENSG00000162129 HGNC:30664 CLPB gene CLPB NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271;3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835;Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813 25597510;25597511;25650066;25595726;26916670;28687938;34140661 False 3 100;0;0 8.355 False ENSG00000162129 ENSG00000162129 HGNC:30664 CLPP gene CLPP Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, 614129 False 3 100;0;0 8.355 False ENSG00000125656 ENSG00000125656 HGNC:2084 CLTC gene CLTC Wessex and West Midlands GLH;NHS GMS;Other;Expert Review Green;Expert Review Green;Other Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 56, OMIM:617854 26822784;29100083 False 3 67;33;0 8.355 False ENSG00000141367 ENSG00000141367 HGNC:2092 CNKSR2 gene CNKSR2 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked, syndromic, Houge type, OMIM:301008;intellectual disability, X-linked, syndromic, Houge type, MONDO:0030909 28098945;25223753;22511892;25644381;28098945;34266427;31414730 False 3 67;33;0 8.355 False ENSG00000149970 ENSG00000149970 HGNC:19701 CNNM2 gene CNNM2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypomagnesemia, seizures, and mental retardation, OMIM:616418;Hypomagnesemia, seizures, and mental retardation, MONDO:0014631 24699222 False 3 67;33;0 8.355 False ENSG00000148842 ENSG00000148842 HGNC:103 CNNM2 gene CNNM2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism);Hypomagnesemia 6, renal 613882;Hypomagnesemia, seizures, and mental retardation 616418 27604308 False 3 100;0;0 8.355 False ENSG00000148842 ENSG00000148842 HGNC:103 CNPY3 gene CNPY3 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 60 617929 29394991 False 3 33;67;0 8.355 True ENSG00000137161 ENSG00000137161 HGNC:11968 CNTNAP2 gene CNTNAP2 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1 Zweier et al (2009) Am J Hum Genet 85: 655_666;Peippo et al (2005) Clin Dysmorphol 15: 47_54;16571880 False 3 83;17;0 8.355 False ENSG00000174469 ENSG00000174469 HGNC:13830 COA6 gene COA6 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501 False 3 100;0;0 8.355 False ENSG00000168275 ENSG00000168275 HGNC:18025 COA7 gene COA7 Expert Review Green;Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387;spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 27683825;29718187 False 3 0;0;0 8.355 False ENSG00000162377 ENSG00000162377 HGNC:25716 COG1 gene COG1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency);Congenital disorder of glycosylation, type IIg 611209 27604308 False 3 0;0;0 8.355 False ENSG00000166685 ENSG00000166685 HGNC:6545 COG4 gene COG4 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency);Congenital disorder of glycosylation, type IIj 613489 19651599;21185756;19494034;11980916 False 3 0;0;0 8.355 False ENSG00000103051 ENSG00000103051 HGNC:18620 COG5 gene COG5 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIi 613612;Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) 27604308 False 3 0;0;0 8.355 False ENSG00000164597 ENSG00000164597 HGNC:14857 COG6 gene COG6 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency);Shaheen syndrome 615328;Congenital disorder of glycosylation, type IIl 614576 26260076;11980916 False 3 0;0;0 8.355 False ENSG00000133103 ENSG00000133103 HGNC:18621 COG7 gene COG7 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIe, 608779 15107842;17356545;19577670 False 3 67;33;0 8.355 False ENSG00000168434 ENSG00000168434 HGNC:18622 COG7 gene COG7 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency);Congenital disorder of glycosylation, type IIe 608779 27604308 False 3 0;0;0 8.355 False ENSG00000168434 ENSG00000168434 HGNC:18622 COG8 gene COG8 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIh 611182;Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) 17220172;17331980;11980916 False 3 0;0;0 8.355 False ENSG00000213380 ENSG00000213380 HGNC:18623 COL18A1 gene COL18A1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1, OMIM:267750 19160445;28602933;28950998;10942434;30007336;19160445;18484314;12415512;19160445;28602933;28950998 False 3 67;33;0 8.355 False ENSG00000182871 ENSG00000182871 HGNC:2195 COL4A1 gene COL4A1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773;Brain small vessel disease with or without ocular anomalies 607595;Porencephaly 1 175780;Schizencephaly 269160 27916450;30315939 False 3 29;14;57 8.355 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Porencephaly 2 614483 22209246;30315939 False 3 29;14;57 8.355 False ENSG00000134871 ENSG00000134871 HGNC:2203 COQ2 gene COQ2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, OMIM:607426 17855635;16400613;17332895 False 3 67;33;0 8.355 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ2 gene COQ2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, OMIM:607426 27604308 False 3 100;0;0 8.355 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7 616276 25658047;26185144 False 3 67;33;0 8.355 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ4 gene COQ4 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, OMIM:616276 27604308 False 3 100;0;0 8.355 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ6 gene COQ6 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6, 614650;Steroid-resistant nephrotic syndrome;Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of ubiquinone metabolism and biosynthesis 27604308 False 3 100;0;0 8.355 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ7 gene COQ7 Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal "?Coenzyme Q10 deficiency, primary, 8 616733" 26084283;28409910 False 3 50;50;0 8.355 False ENSG00000167186 ENSG00000167186 HGNC:2244 COQ8A gene COQ8A London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency;Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of ubiquinone metabolism and biosynthesis;Coenzyme Q10 deficiency, primary, 4, 612016 27604308 False 3 100;0;0 8.355 False ENSG00000163050 ENSG00000163050 HGNC:16812 COQ8B gene COQ8B Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 9 24270420 False 3 100;0;0 8.355 False ENSG00000123815 ENSG00000123815 HGNC:19041 COQ9 gene COQ9 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5, 614654;Coenzyme Q10 deficiency;Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of ubiquinone metabolism and biosynthesis 27604308 False 3 50;50;0 8.355 False ENSG00000088682 ENSG00000088682 HGNC:25302 COQ9 gene COQ9 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5, 614654 19375058;26081641 False 3 67;33;0 8.355 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX10 gene COX10 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046;Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX14 gene COX14 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110;Isolated complex IV deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) 27604308 False 3 100;0;0 8.355 False ENSG00000178449 ENSG00000178449 HGNC:28216 COX15 gene COX15 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 27604308 False 3 100;0;0 8.355 False ENSG00000014919 ENSG00000014919 HGNC:2263 COX20 gene COX20 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110;Isolated complex IV deficiency;Complex IV Mitochondrial respiratory chain disorders caused by nuclear variants only;OXPHOS assembly factors 27604308 False 3 100;0;0 8.355 False ENSG00000203667 ENSG00000203667 HGNC:26970 COX6A1 gene COX6A1 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, recessive intermediate D, 616039 False 3 100;0;0 8.355 False ENSG00000111775 ENSG00000111775 HGNC:2277 COX6B1 gene COX6B1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 18499082;24781756 False 3 100;0;0 8.355 False ENSG00000126267 ENSG00000126267 HGNC:2280 COX7B gene COX7B London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Isolated complex IV deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Linear skin defects with multiple congenital anomalies;Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887;MICROPHTHALMIA WITH LINEAR SKIN LESIONS 27604308 False 3 100;0;0 8.355 False ENSG00000131174 ENSG00000131174 HGNC:2291 CP gene CP London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, 604290;Hemosiderosis, systemic, due to aceruloplasminemia, 604290 False 3 0;0;0 8.355 False ENSG00000047457 ENSG00000047457 HGNC:2295 CPLX1 gene CPLX1 Expert Review Green;NHS GMS;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 63, OMIM:617976;developmental and epileptic encephalopathy, 63, MONDO:0033372 26539891;28422131 False 3 100;0;0 8.355 False ENSG00000168993 ENSG00000168993 HGNC:2309 CPOX gene CPOX London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harderoporphyria 121300;Coproporphyria 121300;Hereditary coproporphyria (Acute neuropathic porphyrias) 27604308 False 3 100;0;0 8.355 False ENSG00000080819 ENSG00000080819 HGNC:2321 CPS1 gene CPS1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Carbamoylphosphate synthetase I deficiency;Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias) 27604308;24816252 False 3 0;0;0 8.355 False ENSG00000021826 ENSG00000021826 HGNC:2323 CPT1A gene CPT1A NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle);CPT deficiency, hepatic, type IA 27604308 False 3 0;0;100 8.355 False ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal CPT II deficiency, infantile, OMIM:600649;CPT II deficiency, lethal neonatal, OMIM:608836;CPT II deficiency, myopathic, stress-induced, OMIM:255110;Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle) 23911907;10873395;11994355;15622536;21913903;23184072;24843804 False 3 50;0;50 8.355 False ENSG00000157184 ENSG00000157184 HGNC:2330 CREBBP gene CREBBP Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert list Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 1 180849 20684013;18792986 False 3 50;25;25 8.355 False ENSG00000005339 ENSG00000005339 HGNC:2348 CRLS1 gene CRLS1 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 57, OMIM:620167 35147173 False 3 100;0;0 8.355 False ENSG00000088766 ENSG00000088766 HGNC:16148 CSGALNACT1 gene CSGALNACT1 Expert Review Green;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation;Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870;skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029 31705726;31325655;31705726 False 3 100;0;0 8.355 False ENSG00000147408 ENSG00000147408 HGNC:24290 CSNK2B gene CSNK2B Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Poirier-Bienvenu neurodevelopmental syndrome, OMIM:618732;Poirier-Bienvenu neurodevelopmental syndrome, MONDO:0032889 28762608;28585349;27094248;30655572 False 3 67;33;0 8.355 False ENSG00000204435 ENSG00000204435 HGNC:2460 CSTB gene CSTB Wessex and West Midlands GLH;NHS GMS;Expert Review Green;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 28378817;21757863;15329070;9012407;8596935;17003839 False 3 38;12;50 8.355 False ENSG00000160213 ENSG00000160213 HGNC:2482 CTH gene CTH London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cystathioninuria, 219500 False 3 0;0;0 8.355 False ENSG00000116761 ENSG00000116761 HGNC:2501 CTNNA2 gene CTNNA2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174 30013181 False 3 67;33;0 8.355 False ENSG00000066032 ENSG00000066032 HGNC:2510 CTNS gene CTNS London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cystinosis, atypical nephropathic 219750 False 3 0;0;0 8.355 False ENSG00000040531 ENSG00000040531 HGNC:2518 CTSA gene CTSA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Galactosialidosis 27604308 False 3 0;0;0 8.355 False ENSG00000064601 ENSG00000064601 HGNC:9251 CTSC gene CTSC Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Haim-Munk syndrome 245010;Papillon-Lefevre syndrome 245000;Periodontitis 1, juvenile 170650 27604308 False 3 0;0;0 8.355 False ENSG00000109861 ENSG00000109861 HGNC:2528 CTSD gene CTSD Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, 610127 26059544;29284168;10995834;16670177 False 3 29;14;57 8.355 False ENSG00000117984 ENSG00000117984 HGNC:2529 CTSD gene CTSD London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, 610127 False 3 0;0;0 8.355 False ENSG00000117984 ENSG00000117984 HGNC:2529 CTSK gene CTSK London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pycnodysostosis 27604308 False 3 0;0;0 8.355 False ENSG00000143387 ENSG00000143387 HGNC:2536 CUBN gene CUBN London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism);Megaloblastic anemia-1, Finnish type;Proteinuric renal disease;Unexplained kidney failure in young people False 3 0;0;0 8.355 False ENSG00000107611 ENSG00000107611 HGNC:2548 CUL3 gene CUL3 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with or without autism or seizures, OMIM:619239 32341456;25969726;31696658;33097317;30311385 False 3 67;33;0 8.355 False ENSG00000036257 ENSG00000036257 HGNC:2553 CUL4B gene CUL4B Expert Review Green;Wessex and West Midlands GLH;Literature;NHS GMS Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354;seizures 25385192;17236139;20014135;20002452;17273978;22182342 False 3 50;50;0 8.355 True ENSG00000158290 ENSG00000158290 HGNC:2555 CUX2 gene CUX2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 67, OMIM:618141;Infantile onset myoclonic epileptic encephalopathy 29630738;29795476;23020937;23934111 False 3 75;25;0 8.355 False ENSG00000111249 ENSG00000111249 HGNC:19347 CYC1 gene CYC1 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Isolated complex III deficiency;Mitochondrial complex III deficiency, nuclear type 6, 615453 False 3 100;0;0 8.355 False ENSG00000179091 ENSG00000179091 HGNC:2579 CYFIP2 gene CYFIP2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 65, 618008 29534297;29667327;30664714 False 3 67;33;0 8.355 False Other ENSG00000055163 ENSG00000055163 HGNC:13760 CYP27A1 gene CYP27A1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700 27604308 False 3 0;0;0 8.355 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP7B1 gene CYP7B1 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 3 613812;Spastic paraplegia 5A, autosomal recessive 270800 27604308;9802883;18252231;19187859;31337596 False 3 0;0;0 8.355 False ENSG00000172817 ENSG00000172817 HGNC:2652 D2HGDH gene D2HGDH Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria, 600721;generalized tonic-clonic seizures;absence seizures;tonic seizures;tonic-clonic seizures;myoclonic seizures False 3 67;33;0 8.355 False ENSG00000180902 ENSG00000180902 HGNC:28358 D2HGDH gene D2HGDH NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria 27604308 False 3 0;0;100 8.355 False ENSG00000180902 ENSG00000180902 HGNC:28358 DARS gene DARS Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypomyelination with brainstem and spinal cord involvement and leg spasticity False 3 25;25;50 8.355 False ENSG00000115866 ENSG00000115866 HGNC:2678 DARS2 gene DARS2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.355 False ENSG00000117593 ENSG00000117593 HGNC:25538 DBH gene DBH London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Dopamine beta-hydroxylase deficiency False 3 100;0;0 8.355 False ENSG00000123454 ENSG00000123454 HGNC:2689 DBT gene DBT Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type II, 248600;seizures;convulsions 31112740;31119508 False 3 67;33;0 8.355 False ENSG00000137992 ENSG00000137992 HGNC:2698 DBT gene DBT London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Dihydrolipoamide branched chain transacylase deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria);Maple syrup urine disease, type II 27604308 False 3 0;0;0 8.355 False ENSG00000137992 ENSG00000137992 HGNC:2698 DCX gene DCX Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Lissencephaly, X-linked, OMIM:300067;Subcortical laminal heterotopia, X-linked, OMIM:300067 False 3 67;33;0 8.355 False ENSG00000077279 ENSG00000077279 HGNC:2714 DCXR gene DCXR Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal [Pentosuria] 260800 27604308;22042873;23988570 False 3 0;0;0 8.355 False ENSG00000169738 ENSG00000169738 HGNC:18985 DDC gene DDC Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, OMIM:608643;Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 28100251;30952622;20505134;19172410 False 3 100;0;0 8.355 False ENSG00000132437 ENSG00000132437 HGNC:2719 DDC gene DDC London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, OMIM:608643;Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 27604308;24816252;28100251;30952622 False 3 100;0;0 8.355 False ENSG00000132437 ENSG00000132437 HGNC:2719 DDX3X gene DDX3X Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958 False 3 67;33;0 8.355 False ENSG00000215301 ENSG00000215301 HGNC:2745 DEAF1 gene DEAF1 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Dyskinesia, seizures, and intellectual developmental disorder, 617171 26048982;28940898;26834045;30109124;30923367 False 3 60;20;20 8.355 True ENSG00000177030 ENSG00000177030 HGNC:14677 DEGS1 gene DEGS1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leukodystrophy hypomyelinating 18, 618404;seizures 30620337;30620338;31186544 False 3 67;33;0 8.355 False ENSG00000143753 ENSG00000143753 HGNC:13709 DENND5A gene DENND5A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 49, 617281 27431290, 27866705 False 3 67;33;0 8.355 False ENSG00000184014 ENSG00000184014 HGNC:19344 DEPDC5 gene DEPDC5 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, familial focal, with variable foci 1, OMIM:604364 14510823;15329069;10825362;10577924;9851433;23542701;32848577;36067010 False 3 44;11;44 8.355 False ENSG00000100150 ENSG00000100150 HGNC:18423 DGUOK gene DGUOK London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Deoxyguanosine kinase deficiency (Disorders of purine metabolism);Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880;Mitochondrial DNA Depletion Syndrome;Disorders of mitochondrial DNA maintenance and integrity;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.355 False ENSG00000114956 ENSG00000114956 HGNC:2858 DHCR24 gene DHCR24 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Desmosterolosis 602398 27604308;11519011;21559050;21671375 False 3 0;0;0 8.355 False ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;IUGR and IGF abnormalities;Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis);Disorders of sex development;Cataracts 27604308 False 3 100;0;0 8.355 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHDDS gene DHDDS Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay and seizures with or without movement abnormalities, OMIM:617836 29100083;32654954;33798445;34182312;34382076;34504728 False 3 50;50;0 8.355 False ENSG00000117682 ENSG00000117682 HGNC:20603 DHFR gene DHFR London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport);Megaloblastic anemia due to dihydrofolate reductase deficiency 27604308 False 3 0;0;0 8.355 False ENSG00000228716 ENSG00000228716 HGNC:2861 DHODH gene DHODH Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Miller syndrome 263750 27604308;19915526;27626380 False 3 0;0;0 8.355 False ENSG00000102967 ENSG00000102967 HGNC:2867 DHPS gene DHPS Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Abnormality of head or neck;Seizures;EEG abnormality;Behavioral abnormality;Abnormal muscle tone;Intellectual disability;Global developmental delay 21389784;30661771;21850436 False 3 67;33;0 8.355 False ENSG00000095059 ENSG00000095059 HGNC:2869 DHTKD1 gene DHTKD1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism);2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism);2-aminoadipic and 2-oxoadipic aciduria, 204750 27604308 False 3 25;25;50 8.355 False ENSG00000181192 ENSG00000181192 HGNC:23537 DHX30 gene DHX30 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with severe motor impairment and absent language 617804 29100085;28327206 False 3 67;33;0 8.355 False ENSG00000132153 ENSG00000132153 HGNC:16716 DIAPH1 gene DIAPH1 Wessex and West Midlands GLH;NHS GMS;Other;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Seizures, cortical blindness, microcephaly syndrome, MIM:616632 24781755; 26463574 False 3 50;50;0 8.355 False ENSG00000131504 ENSG00000131504 HGNC:2876 DLAT gene DLAT London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism);Pyruvate dehydrogenase E2 deficiency, 245348 27604308 False 3 100;0;0 8.355 False ENSG00000150768 ENSG00000150768 HGNC:2896 DLD gene DLD London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism);Leigh syndrome;Dihydrolipoamide dehydrogenase deficiency, 246900 27604308 False 3 100;0;0 8.355 False ENSG00000091140 ENSG00000091140 HGNC:2898 DLL1 gene DLL1 Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, OMIM:618709 31353024 False 3 67;33;0 8.355 False ENSG00000198719 ENSG00000198719 HGNC:2908 DMXL2 gene DMXL2 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 81, MIM 618663;Ohtahara syndrome 25248098;30237576;31688942;30732576 False 3 100;0;0 8.355 False ENSG00000104093 ENSG00000104093 HGNC:2938 DNA2 gene DNA2 Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6;615156;Disorders of mitochondrial DNA maintenance and integrity False 3 100;0;0 8.355 False ENSG00000138346 ENSG00000138346 HGNC:2939 DNAJC12 gene DNAJC12 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 28132689 False 3 0;0;0 8.355 False ENSG00000108176 ENSG00000108176 HGNC:28908 DNAJC19 gene DNAJC19 London North GLH;NHS GMS;Expert Review Green;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type V, 610198;Disorders of the mitochondrial import system;3-methylglutaconic aciduria, type V 27604308;27426421;16055927;27928778 False 3 100;0;0 8.355 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNAJC5 gene DNAJC5 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 27604308;21820099 False 3 0;0;0 8.355 False ENSG00000101152 ENSG00000101152 HGNC:16235 DNM1 gene DNM1 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 31, OMIM:616346 25262651;27066543;33372033;34172529;36413998 False 3 71;29;0 8.355 False ENSG00000106976 ENSG00000106976 HGNC:2972 DNM1L gene DNM1L Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388;refractory epilepsy;refractory focal status epilepticus 26604000;27145208 False 3 67;33;0 8.355 False ENSG00000087470 ENSG00000087470 HGNC:2973 DNM1L gene DNM1L London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388;Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission;Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.355 False ENSG00000087470 ENSG00000087470 HGNC:2973 DNM2 gene DNM2 Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Centronuclear myopathy 1 160150;Charcot-Marie-Tooth disease, axonal type 2M 606482;Charcot-Marie-Tooth disease, dominant intermediate B 606482" 18560793;17932957;17636067;17008356;16227997;15731758 False 3 100;0;0 8.355 False ENSG00000079805 ENSG00000079805 HGNC:2974 DOCK7 gene DOCK7 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23;EIEE23 Perrault et al (2014) AJHG 94(6). 891-897 False 3 83;17;0 8.355 False ENSG00000116641 ENSG00000116641 HGNC:19190 DOLK gene DOLK Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Im, OMIM:610768;DK1-congenital disorder of glycosylation, MONDO:0012556 23890587;17273964;24144945;28816422;32250540 False 3 50;50;0 8.355 False ENSG00000175283 ENSG00000175283 HGNC:23406 DOLK gene DOLK London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Im 610768;Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 24144945;22242004 False 3 0;0;0 8.355 False ENSG00000175283 ENSG00000175283 HGNC:23406 DPAGT1 gene DPAGT1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ij, 608093 False 3 67;33;0 8.355 False ENSG00000172269 ENSG00000172269 HGNC:2995 DPAGT1 gene DPAGT1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 13, with tubular aggregates 614750;UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Ij 608093 27604308 False 3 0;0;0 8.355 False ENSG00000172269 ENSG00000172269 HGNC:2995 DPH5 gene DPH5 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070 35482014 False 3 67;33;0 8.355 False ENSG00000117543 ENSG00000117543 HGNC:24270 DPM1 gene DPM1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, OMIM:608799 23856421;10642597;10642602 False 3 67;33;0 8.355 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM1 gene DPM1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, OMIM:608799;GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 27604308 False 3 0;0;0 8.355 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM2 gene DPM2 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, OMIM:615042 23109149;33129689 False 3 0;0;0 8.355 True ENSG00000136908 ENSG00000136908 HGNC:3006 DPM3 gene DPM3 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937 19576565;28803818 False 3 0;0;0 8.355 False ENSG00000179085 ENSG00000179085 HGNC:3007 DPYD gene DPYD London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidine dehydrogenase deficiency 274270;Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000188641 ENSG00000188641 HGNC:3012 DPYD gene DPYD Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 5-fluorouracil toxicity 274270;Dihydropyrimidine dehydrogenase deficiency 274270 False 3 67;33;0 8.355 False ENSG00000188641 ENSG00000188641 HGNC:3012 DPYS gene DPYS London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidinuria, OMIM:222748;Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism) 27604308;32600357 False 3 0;0;0 8.355 False ENSG00000147647 ENSG00000147647 HGNC:3013 DROSHA gene DROSHA NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Seizures;Cerebral white matter atrophy;Abnormality of the corpus callosum;Abnormality of movement;Stereotypic behavior;Abnormality of head or neck;Short foot 35405010 False 3 67;33;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000113360 ENSG00000113360 HGNC:17904 DTYMK gene DTYMK NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Global developmental delay;Intellectual disability;Microcephaly;Seizures;Global brain atrophy;Cardiorespiratory arrest 31271740;34918187;35346037 False 3 100;0;0 8.355 False ENSG00000168393 ENSG00000168393 HGNC:3061 DYM gene DYM Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388;Dyggve-Melchior-Clausen disease, 223800;Smith-McCort dysplasia, 607326 False 3 0;100;0 8.355 False ENSG00000141627 ENSG00000141627 HGNC:21317 DYNC1H1 gene DYNC1H1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 13, 614563;malformations of cortical development (MCD);Lennox Gastaut;Early-onset epilepsy;Late-onset epilepsy;Focal seizures 23603762 False 3 67;33;0 8.355 False ENSG00000197102 ENSG00000197102 HGNC:2961 DYRK1A gene DYRK1A Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 PMID: 25707398;21294719;23160955;23099646 False 3 83;17;0 8.355 False ENSG00000157540 ENSG00000157540 HGNC:3091 EARS2 gene EARS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 12, 614924;Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL);Drug-refractory seizures;Epilepsy 27571996;27290639;27206875;27117034;26893310;26780086;26619324;23008233;22492562 False 3 67;33;0 8.355 False ENSG00000103356 ENSG00000103356 HGNC:29419 EARS2 gene EARS2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 12, 614924;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 27604308 False 3 100;0;0 8.355 False ENSG00000103356 ENSG00000103356 HGNC:29419 EBP gene EBP London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MEND syndrome 300960 XLR;Chondrodysplasia punctata, X-linked dominant 302960 XLD;X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis) 27604308 False 3 0;0;0 8.355 False ENSG00000147155 ENSG00000147155 HGNC:3133 ECHS1 gene ECHS1 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 False 3 100;0;0 8.355 False ENSG00000127884 ENSG00000127884 HGNC:3151 EEF1A2 gene EEF1A2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 33 616409 23033978;23647072;28911200;28378778;27652284;30109124 False 3 17;17;67 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000101210 ENSG00000101210 HGNC:3192 EFTUD2 gene EFTUD2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mandibulofacial dysostosis, Guion-Almeida type 610536 22305528;19334086 False 3 33;67;0 8.355 False ENSG00000108883 ENSG00000108883 HGNC:30858 EHBP1L1 gene EHBP1L1 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal non-immune hydrops fetalis MONDO:0009369 34645488;26833786;https://dmdd.org.uk/mutants/Ehbp1l1 False 3 100;0;0 8.355 False ENSG00000173442 ENSG00000173442 HGNC:30682 EHMT1 gene EHMT1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kleefstra syndrome PMID: 16826528 False 3 83;17;0 8.355 False ENSG00000181090 ENSG00000181090 HGNC:24650 EIF2B1 gene EIF2B1 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 25843247;25761052 False 3 67;33;0 8.355 True ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 25843247;22678813 False 3 67;33;0 8.355 False ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 19158808 False 3 67;33;0 8.355 True ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 25843247;26043506;29331873;30073106 False 3 67;33;0 8.355 False ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter 603896;Ovarioleukodystrophy 603896 17646634;21484434;15136690;29995139;18266750;25843247;12707859;25457085;18266750;19158808 False 3 67;33;0 8.355 False ENSG00000145191 ENSG00000145191 HGNC:3261 EIF2S3 gene EIF2S3 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females MEHMO syndrome, 300148 28055140, 27333055, 23063529;9781023 False 3 67;33;0 8.355 False ENSG00000130741 ENSG00000130741 HGNC:3267 EIF3F gene EIF3F Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 67, OMIM:618295 30409806 False 3 67;33;0 8.355 False ENSG00000175390 ENSG00000175390 HGNC:3275 ELAC2 gene ELAC2 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 17, 615440 False 3 100;0;0 8.355 False ENSG00000006744 ENSG00000006744 HGNC:14198 EMC10 gene EMC10 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264 32869858;33531666 False 3 100;0;0 8.355 False ENSG00000161671 ENSG00000161671 HGNC:27609 EML1 gene EML1 Wessex and West Midlands GLH;NHS GMS;Literature;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Band heterotopia, OMIM:600348 24859200; 28556411 False 3 50;50;0 8.355 False ENSG00000066629 ENSG00000066629 HGNC:3330 ENO3 gene ENO3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Glycogen storage disease XIII 27604308;25267339;11506403;25929793 False 3 100;0;0 8.355 False ENSG00000108515 ENSG00000108515 HGNC:3354 ENTPD1 gene ENTPD1 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 64, autosomal recessive, OMIM:615683 35471564;28742222 False 3 67;33;0 8.355 False ENSG00000138185 ENSG00000138185 HGNC:3363 EOGT gene EOGT Expert Review Green;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 4 OMIM:615297;Adams-Oliver syndrome 4 MONDO:0014124 23522784;31368252;29924900 False 3 100;0;0 8.355 False ENSG00000163378 ENSG00000163378 HGNC:28526 EPG5 gene EPG5 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 23222957;25331754;26917586;26395118;23838600;23674064;28624465 False 3 50;50;0 8.355 False ENSG00000152223 ENSG00000152223 HGNC:29331 EPG5 gene EPG5 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Vici syndrome, 242840;IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 28624465;23222957;26917586;23674064;25331754;23838600;26395118 False 3 0;0;0 8.355 False ENSG00000152223 ENSG00000152223 HGNC:29331 EPM2A gene EPM2A Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2A (Lafora) 254780 14722920;10932264;16134145;11175283 False 3 17;17;67 8.355 False ENSG00000112425 ENSG00000112425 HGNC:3413 EPM2A gene EPM2A London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2A (Lafora) 27604308 False 3 0;0;0 8.355 False ENSG00000112425 ENSG00000112425 HGNC:3413 ETFA gene ETFA NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 25929793;27604308 False 3 100;0;0 8.355 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 7912128;12815589;25929793;27604308 False 3 50;0;50 8.355 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only));GLUTARIC ACIDURIA TYPE 2C;Glutaric acidemia IIC;Disorders of ubiquinone metabolism and biosynthesis;ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation) 27604308;24816252 False 3 100;0;0 8.355 False ENSG00000171503 ENSG00000171503 HGNC:3483 ETHE1 gene ETHE1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy, 602473 False 3 67;33;0 8.355 False ENSG00000105755 ENSG00000105755 HGNC:23287 ETHE1 gene ETHE1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy, 602473;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Isolated complex IV deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Ethylmalonic encephalopathy 27604308 False 3 100;0;0 8.355 False ENSG00000105755 ENSG00000105755 HGNC:23287 EXOSC3 gene EXOSC3 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, OMIM:614678 25144110;25149867;23975261;23284067 False 3 67;33;0 8.355 False ENSG00000107371 ENSG00000107371 HGNC:17944 EXT1 gene EXT1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies);Exostoses, multiple, type 1 133700 27604308 False 3 0;0;0 8.355 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies);Exostoses, multiple, type 2 133701;?Seizures, scoliosis, and macrocephaly syndrome 616682 12417417 False 3 0;0;0 8.355 False ENSG00000151348 ENSG00000151348 HGNC:3513 EXT2 gene EXT2 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Seizures, scoliosis, and macrocephaly syndrome, OMIM:616682;seizures-scoliosis-macrocephaly syndrome, MONDO:0014731 26246518;30997052;30288735;30075207 False 3 100;0;0 8.355 False ENSG00000151348 ENSG00000151348 HGNC:3513 FA2H gene FA2H Expert list;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis);Early onset dystonia;Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism);Hereditary spastic paraplegia 27604308 False 3 0;0;100 8.355 False ENSG00000103089 ENSG00000103089 HGNC:21197 FAH gene FAH London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type I 27604308 False 3 0;0;0 8.355 False ENSG00000103876 ENSG00000103876 HGNC:3579 FAR1 gene FAR1 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Review Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154;fatty acyl-CoA reductase 1 deficiency, MONDO:0014510 25439727;30561787;33239752 False 3 50;50;0 8.355 False ENSG00000197601 ENSG00000197601 HGNC:26222 FARS2 gene FARS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 14, 614946 24161539;22833457;22499341;29126765 False 3 67;33;0 8.355 False ENSG00000145982 ENSG00000145982 HGNC:21062 FARS2 gene FARS2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Combined oxidative phosphorylation deficiency 14, 614946 27604308 False 3 100;0;0 8.355 False ENSG00000145982 ENSG00000145982 HGNC:21062 FASTKD2 gene FASTKD2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 44, OMIM:618855 27604308 False 3 100;0;0 8.355 False ENSG00000118246 ENSG00000118246 HGNC:29160 FASTKD2 gene FASTKD2 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 44, OMIM:618855 18771761;28499982;31944455;35729327 False 3 25;75;0 8.355 False ENSG00000118246 ENSG00000118246 HGNC:29160 FBP1 gene FBP1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Glycogen Storage Disorders- Liver;Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis) 27604308 False 3 0;0;0 8.355 False ENSG00000165140 ENSG00000165140 HGNC:3606 FBXL4 gene FBXL4 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471;mitochondrial DNA depletion syndrome 13 MONDO:0014198 False 3 100;0;0 8.355 False ENSG00000112234 ENSG00000112234 HGNC:13601 FBXL4 gene FBXL4 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471;mitochondrial DNA depletion syndrome 13 MONDO:0014198 28383868;23993193;23993194;25868664;26404457;27182039;27290639;27099744;27743463 False 3 75;25;0 8.355 False ENSG00000112234 ENSG00000112234 HGNC:13601 FBXO11 gene FBXO11 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089 30057029;29796876 False 3 33;67;0 8.355 False ENSG00000138081 ENSG00000138081 HGNC:13590 FBXO28 gene FBXO28 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 100, OMIM:619777;developmental and epileptic encephalopathy 100, MONDO:0030695 30160831;33280099 False 3 100;0;0 8.355 False ENSG00000143756 ENSG00000143756 HGNC:29046 FDX2 gene FDX2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900;mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 24281368;28803783;30010796 False 3 50;50;0 8.355 False ENSG00000267673 ENSG00000267673 HGNC:30546 FDXR gene FDXR Expert Review Green;Literature;Expert Review;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy 617717 28965846 False 3 100;0;0 8.355 False ENSG00000161513 ENSG00000161513 HGNC:3642 FECH gene FECH Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Protoporphyria, erythropoietic, 1 177000 27604308 False 3 0;0;0 8.355 False ENSG00000066926 ENSG00000066926 HGNC:3647 FGF12 gene FGF12 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 47, 617166 27830185, 27872899, 27164707, 29699863 False 3 67;33;0 8.355 False ENSG00000114279 ENSG00000114279 HGNC:3668 FGF13 gene FGF13 Expert Review Green;Literature Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Developmental and epileptic encephalopathy;Intellectual disability;Infantile-onset seizures 33245860 False 3 100;0;0 8.355 False ENSG00000129682 ENSG00000129682 HGNC:3670 FGFR2 gene FGFR2 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410;Apert syndrome 101200;Beare-Stevenson cutis gyrata syndrome 123790;Bent bone dysplasia syndrome 614592;Craniofacial-skeletal-dermatologic dysplasia 101600;Craniosynostosis, nonspecific;Crouzon syndrome 123500;Gastric cancer, somatic 613659;Jackson-Weiss syndrome 123150;LADD syndrome 149730;Pfeiffer syndrome 101600;Saethre-Chotzen syndrome 101400;Scaphocephaly and Axenfeld-Rieger anomaly;Scaphocephaly, maxillary retrusion, and mental retardation 609579" 27604308 False 3 0;0;0 8.355 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypochondroplasia, OMIM:146000;hypochondroplasia, MONDO:0007793 12794698;16222682;17621485;2463028;23165795;27485793;30160829;28551036;23649205;23044018;18000976 False 3 67;33;0 8.355 True ENSG00000068078 ENSG00000068078 HGNC:3690 FH gene FH London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency, OMIM:606812;Disorders of the citric acid cycle 27604308 False 3 100;0;0 8.355 False ENSG00000091483 ENSG00000091483 HGNC:3700 FKRP gene FKRP London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612;Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153 27604308 False 3 0;0;0 8.355 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800;seizures;Walker-warburg syndrome or muscle-eye-brain disease;Fukuyama congenital muscular dystrophy 30220444;9690476;20961758 False 3 67;33;0 8.355 False ENSG00000106692 ENSG00000106692 HGNC:3622 FKTN gene FKTN London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588;Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27604308 False 3 0;0;0 8.355 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLAD1 gene FLAD1 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Multiple acyl-CoA dehydrogenase deficiencies (MADDs) PubMed: 27259049 False 3 0;100;0 8.355 False ENSG00000160688 ENSG00000160688 HGNC:24671 FLNA gene FLNA North West GLH;Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Heterotopia, periventricular OMIM:300049 15668422;20014127;25755106;17357080 False 3 60;20;20 8.355 False ENSG00000196924 ENSG00000196924 HGNC:3754 FMO3 gene FMO3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Trimethylaminuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) 27604308 False 3 100;0;0 8.355 False ENSG00000007933 ENSG00000007933 HGNC:3771 FOLR1 gene FOLR1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, 613068;Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport) 27604308 False 3 0;0;0 8.355 False ENSG00000110195 ENSG00000110195 HGNC:3791 FOLR1 gene FOLR1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, 613068;seizures 19732866;20857335;25046240 False 3 67;33;0 8.355 False ENSG00000110195 ENSG00000110195 HGNC:3791 FOXG1 gene FOXG1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert;Expert Review Green;UKGTN Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rett syndrome, congenital variantRett Syndrome, congenital variant OMIM:613454;Rett syndrome, congenital variant MONDO:0013270 21441262;19564653;19578037;27029630 False 3 83;17;0 8.355 False ENSG00000176165 ENSG00000176165 HGNC:3811 FOXRED1 gene FOXRED1 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 19, OMIM:618241;mitochondrial complex 1 deficiency, nuclear type 19, MONDO:0032624 20858599;20818383;27215383;31434271;30723688;33613441 False 3 60;40;0 8.355 False ENSG00000110074 ENSG00000110074 HGNC:26927 FOXRED1 gene FOXRED1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000110074 ENSG00000110074 HGNC:26927 FRMD5 gene FRMD5 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094 36206744 False 3 100;0;0 8.355 False ENSG00000171877 ENSG00000171877 HGNC:28214 FRRS1L gene FRRS1L Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile 37, 616981 27236917;27239025 False 3 67;33;0 8.355 False ENSG00000260230 ENSG00000260230 HGNC:1362 FTCD gene FTCD Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glutamate formiminotransferase deficiency 229100 27604308;12815595;29178637 False 3 0;0;0 8.355 False ENSG00000160282 ENSG00000160282 HGNC:3974 FUCA1 gene FUCA1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Fucosidosis, 230000 False 3 0;0;0 8.355 False ENSG00000179163 ENSG00000179163 HGNC:4006 FUCA1 gene FUCA1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Fucosidosis, 230000;seizures 10094192;27706744;29588375;8504303 False 3 67;33;0 8.355 False ENSG00000179163 ENSG00000179163 HGNC:4006 FUT8 gene FUT8 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation, 618005;seizures 29304374 False 3 67;33;0 8.355 False ENSG00000033170 ENSG00000033170 HGNC:4019 FUT8 gene FUT8 Expert Review Green;Expert Review;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation, 618005 29304374 False 3 100;0;0 8.355 False ENSG00000033170 ENSG00000033170 HGNC:4019 FXN gene FXN Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia OMIM:229300;Friedreich ataxia with retained reflexes OMIM:229300;Friedreich ataxia 1 MONDO:0100340 27604308 False 3 75;0;25 8.355 False ENSG00000165060 ENSG00000165060 HGNC:3951 G6PC gene G6PC London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ia, OMIM:232200 27604308 False 3 0;0;0 8.355 False ENSG00000131482 ENSG00000131482 HGNC:4056 G6PC3 gene G6PC3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Dursun syndrome False 3 0;0;0 8.355 False ENSG00000141349 ENSG00000141349 HGNC:24861 GAA gene GAA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II, 232300 False 3 100;0;0 8.355 False ENSG00000171298 ENSG00000171298 HGNC:4065 GABBR2 gene GABBR2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY;Rett syndrome;Epileptic encephalopathy, early infantile, 59, 617904 EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11;29100083;28061363;28135719;28856709 False 3 17;17;67 8.355 False ENSG00000136928 ENSG00000136928 HGNC:4507 GABRA1 gene GABRA1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Epilepsy, childhood absence, susceptibility to, 4} 611136;{Epilepsy, juvenile myoclonic, susceptibility to, 5} 611136 24623842;11992121;21714819;16718694;31056671 False 3 83;17;0 8.355 False ENSG00000022355 ENSG00000022355 HGNC:4075 GABRA2 gene GABRA2 Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 78, 618557 29422393;29961870;31032849;31032848;doi.org/10.1101/678219 False 3 100;0;0 8.355 False ENSG00000151834 ENSG00000151834 HGNC:4076 GABRA5 gene GABRA5 Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 79, 618559 29961870;31056671 False 3 100;0;0 8.355 False ENSG00000186297 ENSG00000186297 HGNC:4079 GABRB1 gene GABRB1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 45, OMIM:617153;developmental and epileptic encephalopathy, 45, MONDO:0014942 26950270;23934111;27273810;31618474 False 3 50;50;0 8.355 False ENSG00000163288 ENSG00000163288 HGNC:4081 GABRB2 gene GABRB2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, infantile or early childhood, 2, 617829 29100083;27789573;25124326 False 3 67;33;0 8.355 False ENSG00000145864 ENSG00000145864 HGNC:4082 GABRB3 gene GABRB3 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert;Expert Review Green;UKGTN Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, childhood absence, susceptibility to, 5;EPILEPTIC ENCEPHALOPATHIES Tanaka et al (2008) Am J Hum Genet 82: 1249_1261 False 3 83;17;0 8.355 False ENSG00000166206 ENSG00000166206 HGNC:4083 GABRD gene GABRD Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Epilepsy, idiopathic generalized, 10}, OMIM:613060;{Epilepsy, juvenile myoclonic, susceptibility to}, OMIM:613060;{Generalized epilepsy with febrile seizures plus, type 5, susceptibility to}, OMIM:613060 15115768;29785705;34633442 False 3 12;12;75 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000187730 ENSG00000187730 HGNC:4084 GABRG2 gene GABRG2 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Epilepsy, generalized, with febrile seizures plus, type 3 611277;Febrile seizures, familial, 8 611277;{Epilepsy, childhood absence, susceptibility to, 2} 607681" 27066572;11326275;11326274;34957497 False 3 17;17;67 8.355 False ENSG00000113327 ENSG00000113327 HGNC:4087 GABRG2 gene GABRG2 Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Febrile seizures, familial, 8 611277;Epilepsy, generalized, with febrile seizures plus, type 3 611277;{Epilepsy, childhood absence, susceptibility to, 2} 607681 23708187;16510738;15342642;34957497 False 3 100;0;0 8.355 False ENSG00000113327 ENSG00000113327 HGNC:4087 GAD1 gene GAD1 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal "?Cerebral palsy, spastic quadriplegic, 1 603513;Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele" 15571623;26503795;24896178;26350204;32282878 False 3 100;0;0 8.355 False ENSG00000128683 ENSG00000128683 HGNC:4092 GALC gene GALC Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Krabbe disease, OMIM:245200 21070211;29391017;30089515;20886637 False 3 67;33;0 8.355 False ENSG00000054983 ENSG00000054983 HGNC:4115 GALC gene GALC London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Krabbe disease, OMIM:245200 27604308 False 3 0;0;0 8.355 False ENSG00000054983 ENSG00000054983 HGNC:4115 GALE gene GALE London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism);Galactose epimerase deficiency, OMIM:230350;MONDO:0009257 27604308 False 3 0;0;0 8.355 False ENSG00000117308 ENSG00000117308 HGNC:4116 GALK1 gene GALK1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Galactokinase deficiency with cataracts, 230200 False 3 0;0;0 8.355 False ENSG00000108479 ENSG00000108479 HGNC:4118 GALM gene GALM Expert Review Green;Literature;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Galactosemia IV, OMIM:618881;MONDO:0030105 30451973;30910422 False 3 100;0;0 8.355 False ENSG00000143891 ENSG00000143891 HGNC:24063 GALNS gene GALNS London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 4A;Mucopolysaccharidosis Type IVA;Mucopolysaccharidosis IVA, 253000;Mucopolysaccharidosis, Type IV;MPS IVA, Morquio A disease (MPS IV, Morquio disease) 27604308 False 3 0;0;0 8.355 False ENSG00000141012 ENSG00000141012 HGNC:4122 GALNT2 gene GALNT2 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIt OMIM:618885 27508872;32293671 False 3 100;0;0 8.355 False ENSG00000143641 ENSG00000143641 HGNC:4124 GALNT2 gene GALNT2 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIt 618885 27508872;32293671 False 3 100;0;0 8.355 False ENSG00000143641 ENSG00000143641 HGNC:4124 GALNT3 gene GALNT3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies);Tumoral calcinosis, hyperphosphatemic, familial 211900 15133511 False 3 0;0;0 8.355 False ENSG00000115339 ENSG00000115339 HGNC:4125 GALT gene GALT London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Classical galactosaemia (Disorders of galactose metabolism);Galactosemia;Cataracts 27604308 False 3 0;0;0 8.355 False ENSG00000213930 ENSG00000213930 HGNC:4135 GAMT gene GAMT Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 2 612736 27604308;17101918;15651030;8651275 False 3 100;0;0 8.355 False ENSG00000130005 ENSG00000130005 HGNC:4136 GAMT gene GAMT Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 2, 612736;Seizures;Deficiency of guanidinoacetate methyltransferase;GAMT deficiency 15651030;17101918;15108290;19027335;24268530 False 3 29;14;57 8.355 False ENSG00000130005 ENSG00000130005 HGNC:4136 GARS gene GARS Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, type 2D;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Neuropathy, distal hereditary motor, type VA False 3 100;0;0 8.355 False ENSG00000106105 ENSG00000106105 HGNC:4162 GATM gene GATM London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism);arginine:glycine amidinotransferase deficiency;Cerebral creatine deficiency syndrome 3, 612718 27604308 False 3 100;0;0 8.355 False ENSG00000171766 ENSG00000171766 HGNC:4175 GBA gene GBA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Gaucher disease, perinatal lethal, 608013;Gaucher disease, type III, 231000;Gaucher disease, type II, 230900;Gaucher disease, type I, 230800;Gaucher disease, type IIIC, 231005;Gaucher disease;Gaucher disease (Sphingolipidoses) 27604308 False 3 0;0;0 8.355 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBA gene GBA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Gaucher disease, perinatal lethal, 608013;Gaucher disease, type II, 230900;Gaucher disease, type III, 231000;Gaucher disease, type IIIC, 231005;seizures 8929950;15214004;12838552;8829654;8118460;11359469;8544197;9040001 False 3 67;33;0 8.355 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBE1 gene GBE1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, OMIM:232500;Polyglucosan body disease, adult form, OMIM:263570 27604308 False 3 100;0;0 8.355 False ENSG00000114480 ENSG00000114480 HGNC:4180 GCDH gene GCDH London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glutaricaciduria, type I, 231670 False 3 0;0;0 8.355 False ENSG00000105607 ENSG00000105607 HGNC:4189 GCH1 gene GCH1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 27604308 False 3 0;0;0 8.355 False ENSG00000131979 ENSG00000131979 HGNC:4193 GCLC gene GCLC London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle);Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450 27604308 False 3 100;0;0 8.355 False ENSG00000001084 ENSG00000001084 HGNC:4311 GCSH gene GCSH Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423;Glycine encephalopathy;Transient neonatal hyperglycinemia 27604308;16450403;36190515 False 3 67;0;33 8.355 False ENSG00000140905 ENSG00000140905 HGNC:4208 GCSH gene GCSH Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423;Glycine encephalopathy;Transient neonatal hyperglycinemia 1671321;36190515 False 3 40;20;40 8.355 False ENSG00000140905 ENSG00000140905 HGNC:4208 GDAP1 gene GDAP1 Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706;Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340;Charcot-Marie-Tooth disease, type 4A, OMIM:214400 PMID: 11743579 False 3 100;0;0 8.355 False ENSG00000104381 ENSG00000104381 HGNC:15968 GFAP gene GFAP Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alexander disease, 203450;seizures 11567214;12034785;29801191;20301351;16505300 False 3 67;33;0 8.355 False ENSG00000131095 ENSG00000131095 HGNC:4235 GFER gene GFER London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Disorders of the mitochondrial import system;Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076;Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.355 False ENSG00000127554 ENSG00000127554 HGNC:4236 GFM1 gene GFM1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 1, 609060;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.355 False ENSG00000168827 ENSG00000168827 HGNC:13780 GFM2 gene GFM2 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 39, OMIM:618397 22700954;26016410;29075935 False 3 100;0;0 8.355 False ENSG00000164347 ENSG00000164347 HGNC:29682 GFPT1 gene GFPT1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542;Congenital myasthenic sydrome (Disorders of protein N-glycosylation) 27604308 False 3 0;0;0 8.355 False ENSG00000198380 ENSG00000198380 HGNC:4241 GIF gene GIF London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intrinsic factor deficiency 27604308 False 3 0;0;0 8.355 False ENSG00000134812 ENSG00000134812 HGNC:4268 GK gene GK Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Glycerol kinase deficiency 307030 27604308;8651297;9719371;10737976;10736265 False 3 0;0;0 8.355 False ENSG00000198814 ENSG00000198814 HGNC:4289 GLA gene GLA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease, cardiac variant, 301500;Fabry Disease;Fabry disease (Sphingolipidoses);Fabry disease, 301500 27604308 False 3 0;0;0 8.355 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 4B;MPS IVB, Morquio B disease (MPS IV, Morquio disease);Mucopolysaccharidosis type IVB (Morquio), 253010;GM1-gangliosidosis (Sphingolipidoses);GM1-gangliosidosis, type II, 230600;GM1-gangliosidosis, type III, 230650;Mucopolysaccharidosis, Type IV;Mucopolysaccharidosis Type IVB;GM1-gangliosidosis, type I, 230500 27604308 False 3 0;0;0 8.355 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLB1 gene GLB1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type II, 230600;seizures 1909089;1907800;12644936;12644936 False 3 67;33;0 8.355 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLDC gene GLDC London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy, 605899 False 3 0;0;0 8.355 False ENSG00000178445 ENSG00000178445 HGNC:4313 GLDC gene GLDC Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy, 605899;seizures 10798358;15864413;29304759;29239742;29300369;15557500 False 3 67;33;0 8.355 False ENSG00000178445 ENSG00000178445 HGNC:4313 GLRA1 gene GLRA1 Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia, hereditary 1, 149400 False 3 100;0;0 8.355 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLRA2 gene GLRA2 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked syndromic, Pilorge type, OMIM:301076 20531469;20479760;26370147;28588452;35294868 False 3 67;33;0 8.355 False Other ENSG00000101958 ENSG00000101958 HGNC:4327 GLRX5 gene GLRX5 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950;Disorders of iron homeostasis 27604308 False 3 100;0;0 8.355 False ENSG00000182512 ENSG00000182512 HGNC:20134 GLS gene GLS Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412;Developmental and epileptic encephalopathy 71, OMIM:618328;?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339 29468182;30970188;30575854;30239721 False 3 67;33;0 8.355 False ENSG00000115419 ENSG00000115419 HGNC:4331 GLUD1 gene GLUD1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism-hyperammonemia syndrome, 606762;epilepsy 19046187;10636977;9571255;11214910 False 3 67;33;0 8.355 False ENSG00000148672 ENSG00000148672 HGNC:4335 GLUD1 gene GLUD1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias);Hyperinsulinism-hyperammonemia syndrome, 606762 27604308 False 3 33;0;67 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000148672 ENSG00000148672 HGNC:4335 GLUL gene GLUL Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glutamine deficiency, congenital, 610015;seizures 21353613;16267323;30158707 False 3 67;33;0 8.355 False ENSG00000135821 ENSG00000135821 HGNC:4341 GLUL gene GLUL Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glutamine deficiency, congenital 610015 27604308;16267323;21353613 False 3 0;0;0 8.355 False ENSG00000135821 ENSG00000135821 HGNC:4341 GLYCTK gene GLYCTK London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal D-glyceric aciduria 220120;D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000168237 ENSG00000168237 HGNC:24247 GM2A gene GM2A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, AB variant, 272750;seizures;Hexosaminidase activator deficiency;Tay-Sachs disease 26203402;8900233;10364519;26203402 False 3 67;33;0 8.355 False ENSG00000196743 ENSG00000196743 HGNC:4367 GM2A gene GM2A London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, AB variant, 272750 False 3 0;0;0 8.355 False ENSG00000196743 ENSG00000196743 HGNC:4367 GMPPA gene GMPPA Expert Review Green;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) 24035193;28574218 False 3 100;0;0 8.355 False ENSG00000144591 ENSG00000144591 HGNC:22923 GMPPB gene GMPPB Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350;muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351;muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352;autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142" False 3 0;0;0 8.355 False ENSG00000173540 ENSG00000173540 HGNC:22932 GNAO1 gene GNAO1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPILEPTIC ENCEPHALOPATHY;Epileptic encephalopathy, early infantile, 17 Nakamura (2013);Saitsu (2015) False 3 83;17;0 8.355 False ENSG00000087258 ENSG00000087258 HGNC:4389 GNAQ gene GNAQ Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sturge-Weber syndrome, somatic, mosaic, OMIM:185300 25374402;23656586;28126187;34124757 False 3 33;67;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000156052 ENSG00000156052 HGNC:4390 GNB1 gene GNB1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 42 OMIM:616973;intellectual disability, autosomal dominant 42 MONDO:0014855 27108799;25529582 False 3 67;33;0 8.355 False Other ENSG00000078369 ENSG00000078369 HGNC:4396 GNB5 gene GNB5 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Review;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173 27523599;27677260;28697420;29368331 False 3 33;33;33 8.355 True ENSG00000069966 ENSG00000069966 HGNC:4401 GNE gene GNE London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sialuria OMIM:269921;sialuria MONDO:0010028;Nonaka myopathy OMIM:605820;GNE myopathy MONDO:0011603 26721333 False 3 0;0;0 8.355 False ENSG00000159921 ENSG00000159921 HGNC:23657 GNMT gene GNMT Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal "Glycine N-methyltransferase deficiency 606664" 27604308;17660255;11810299;14739680 False 3 0;0;0 8.355 False ENSG00000124713 ENSG00000124713 HGNC:4415 GNPAT gene GNPAT London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders);Rhizomelic chondrodysplasia punctata, type 2 222765 27604308 False 3 0;0;0 8.355 False ENSG00000116906 ENSG00000116906 HGNC:4416 GNPTAB gene GNPTAB London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mucolipidosis, Type II;Mucolipidosis, Type III Alpha/Beta;Mucolipidosis III alpha/beta;Mucolipidosis II, I-cell disease (Other lysosomal disorders);Mucolipidosis II alpha/beta 27604308 False 3 0;0;0 8.355 False ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders);mucolipidpsis type III complementation group C;Mucolipidosis, Type III Gamma;Mucolipidosis III gamma 27604308 False 3 0;0;0 8.355 False ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses);Mucopolysaccharidosis Type IIID;Mucopolysaccharidosis type IIID, 252940;Mucopolysaccharidosis Type III;Mucopolysaccharidosis, Type III 27604308 False 3 0;0;0 8.355 False ENSG00000135677 ENSG00000135677 HGNC:4422 GORAB gene GORAB Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum OMIM:231070;geroderma osteodysplastica MONDO:0009271 26000619;18348262;28807865;30631079 False 3 100;0;0 8.355 False ENSG00000120370 ENSG00000120370 HGNC:25676 GOSR2 gene GOSR2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 6, 614018 21549339;30363482;24458321;27618868;23449775 False 3 38;12;50 8.355 False ENSG00000108433 ENSG00000108433 HGNC:4431 GOT2 gene GOT2 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 82, OMIM:618721;Developmental and epileptic encephalopathy, 82, MONDO:0032880 31422819 False 3 67;33;0 8.355 False ENSG00000125166 ENSG00000125166 HGNC:4433 GPAA1 gene GPAA1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Literature;Expert Review Green;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 15, 617810 29100095;24896178 False 3 67;33;0 8.355 False ENSG00000197858 ENSG00000197858 HGNC:4446 GPD1 gene GPD1 Expert Review Green;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypertriglyceridemia, transient infantile, 614480 24549054;22226083 False 3 0;0;0 8.355 False ENSG00000167588 ENSG00000167588 HGNC:4455 GPHN gene GPHN London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Molybdenum cofactor deficiency C, OMIM:615501;Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism) 27604308;26613940;24561070;25866352;23393157;23275889;11095995;22040219 False 3 100;0;0 8.355 False ENSG00000171723 ENSG00000171723 HGNC:15465 GPHN gene GPHN Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Molybdenum cofactor deficiency C, OMIM:615501;Developmental and epileptic encephalopathy, MONDO:0100062 26613940;12684523;11095995;22040219;24561070;23393157;34617111 False 3 38;12;50 8.355 False ENSG00000171723 ENSG00000171723 HGNC:15465 GRHPR gene GRHPR London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Primary hyperoxaluria type II (Disorders of glyoxylate metabolism);Hyperoxaluria, primary, type II 27604308 False 3 0;0;0 8.355 False ENSG00000137106 ENSG00000137106 HGNC:4570 GRIA2 gene GRIA2 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with language impairment and behavioral abnormalities, OMIM:618917;neurodevelopmental disorder with language impairment and behavioral abnormalities, MONDO:0030060 31300657 False 3 50;50;0 8.355 False ENSG00000120251 ENSG00000120251 HGNC:4572 GRIA4 gene GRIA4 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 29220673;18316356 False 3 67;33;0 8.355 False ENSG00000152578 ENSG00000152578 HGNC:4574 GRIK2 gene GRIK2 NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mental retardation, autosomal recessive, 6, OMIM:611092;non-syndromic neurodevelopmental disorder (NDD), autosomal dominant 34375587;17847003;25039795 False 3 100;0;0 8.355 False ENSG00000164418 ENSG00000164418 HGNC:4580 GRIN1 gene GRIN1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254;intellectual disability, autosomal dominant 8 MONDO:0013655;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820;neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629 25864721;23934111;21376300;28228639;27164704;28051072 False 3 83;17;0 8.355 False ENSG00000176884 ENSG00000176884 HGNC:4584 GRIN2A gene GRIN2A Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, focal, with speech disorder and with or without mental retardation;EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS;LANDAU-KLEFFNER SYNDROME Lesca et al (2013) Nature Genet 45(9) 1061-1068 False 3 83;17;0 8.355 False ENSG00000183454 ENSG00000183454 HGNC:4585 GRIN2B gene GRIN2B Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970;Developmental and epileptic encephalopathy 27, OMIM:616139 20890276;24272827;28377535;35238837;36758276 False 3 83;17;0 8.355 False ENSG00000273079 ENSG00000273079 HGNC:4586 GRIN2D gene GRIN2D Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 46 617162 27616483;30280376 False 3 50;50;0 8.355 False ENSG00000105464 ENSG00000105464 HGNC:4588 GRM7 gene GRM7 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922 32286009;32248644 False 3 100;0;0 8.355 False ENSG00000196277 ENSG00000196277 HGNC:4599 GRN gene GRN Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 11, OMIM:614706;neuronal ceroid lipofuscinosis 1, MONDO:0013866 31855245;28404863;30922528 False 3 100;0;0 8.355 False ENSG00000030582 ENSG00000030582 HGNC:4601 GSS gene GSS London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glutathione synthetase (GSS) deficiency;Glutathione synthetase deficiency 266130;Glutathione synthetase deficiency with 5-oxoprolinuria;Glutathione synthetase deficiency without 5-oxoprolinuria;Pyroglutamic aciduria;5-oxoprolinuria;Hemolytic anemia due to glutathione synthetase deficiency 231900;Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle);Fanconi nephropathy 27604308 False 3 100;0;0 8.355 False ENSG00000100983 ENSG00000100983 HGNC:4624 GTPBP2 gene GTPBP2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Jaberi-Elahi syndrome 617988;Global developmental delay;Intellectual disability;Seizures 26675814;29449720;25061210 False 3 33;67;0 8.355 False ENSG00000172432 ENSG00000172432 HGNC:4670 GTPBP3 gene GTPBP3 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 23 616198 False 3 100;0;0 8.355 True ENSG00000130299 ENSG00000130299 HGNC:14880 GUSB gene GUSB London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 7;Mucopolysaccharidosis VII, 253220;MPS VII, Sly disease (MPS IV, Morquio disease);Mucopolysaccharidosis Type VII;Mucopolysaccharidosis, Type VII 27604308 False 3 0;0;0 8.355 False ENSG00000169919 ENSG00000169919 HGNC:4696 GYG1 gene GYG1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Glycogen storage disease XV False 3 100;0;0 8.355 False ENSG00000163754 ENSG00000163754 HGNC:4699 GYS1 gene GYS1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, muscle 27604308;21958591;24579562 False 3 100;0;0 8.355 False ENSG00000104812 ENSG00000104812 HGNC:4706 GYS2 gene GYS2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Glycogen Storage Disease Type 0, Liver;Glycogen Storage Disorders- Liver;Glycogen storage disease type 0a, liver (Glycogen storage disorders);Glycogen storage disease, type 0, 240600;fasting intolerance without enlarged liver 27604308 False 3 0;0;0 8.355 False ENSG00000111713 ENSG00000111713 HGNC:4707 H3F3A gene H3F3A Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay;Intellectual disability;Neurodegeneration;Epilepsy;Facial dysmorphism;Congenital anomalies 33268356 False 3 40;20;40 8.355 False ENSG00000163041 ENSG00000163041 HGNC:4764 H3F3B gene H3F3B Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay;Intellectual disability;Neurodegeneration;Epilepsy;Facial dysmorphism;Congenital anomalies 33268356 False 3 33;17;50 8.355 False ENSG00000132475 ENSG00000132475 HGNC:4765 HAAO gene HAAO Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple congenital malformations;VACTERL-like phenotype 27604308;17334708;28792876 False 3 0;0;0 8.355 False ENSG00000162882 ENSG00000162882 HGNC:4796 HACE1 gene HACE1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia and psychomotor retardation with or without seizures 616756 26424145;26437029;29423242;31321300;33813722 False 3 67;33;0 8.355 False ENSG00000085382 ENSG00000085382 HGNC:21033 HADH gene HADH Expert Review Green;NHS GMS;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 3-hydroxyacyl-CoA dehydrogenase deficiency 231530;Hyperinsulinemic hypoglycemia, familial, 4 609975 27604308;11489939;26316438;23430856;23506826;25915078;26316438;27181376 False 3 0;0;100 8.355 False ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation);Trifunctional protein deficiency 609015 27604308 False 3 50;0;50 8.355 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation);Trifunctional protein deficiency 609015 27604308 False 3 50;0;50 8.355 False ENSG00000138029 ENSG00000138029 HGNC:4803 HAMP gene HAMP London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2B 613313;Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000105697 ENSG00000105697 HGNC:15598 HARS2 gene HARS2 Expert Review Green;Expert Review Green;Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis);?Perrault syndrome 2 614926;Perrault syndrome 2, 614926 27650058;21464306 False 3 33;33;33 8.355 False ENSG00000112855 ENSG00000112855 HGNC:4817 HAX1 gene HAX1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Literature;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital 3, autosomal recessive, 610738 18611981 False 3 50;50;0 8.355 False ENSG00000143575 ENSG00000143575 HGNC:16915 HCCS gene HCCS London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Linear skin defects with multiple congenital anomalies 1;Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Microphthalmia, syndromic 7, 309801 27604308 False 3 100;0;0 8.355 False ENSG00000004961 ENSG00000004961 HGNC:4837 HCFC1 gene HCFC1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type), 309541 24011988;23000143 False 3 67;33;0 8.355 False ENSG00000172534 ENSG00000172534 HGNC:4839 HCFC1 gene HCFC1 Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541 False 3 100;0;0 8.355 False ENSG00000172534 ENSG00000172534 HGNC:4839 HCN1 gene HCN1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 24 Nava et al (2014) Nature Genet 46(6). 640-648 False 3 83;17;0 8.355 False ENSG00000164588 ENSG00000164588 HGNC:4845 HCN2 gene HCN2 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Genetic epilepsy with febrile seizures plus;Other seizure disorders 29064616;20437590;12514127;17931874;22131395 False 3 40;60;0 8.355 True ENSG00000099822 ENSG00000099822 HGNC:4846 HECW2 gene HECW2 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with hypotonia, seizures, and absent language 617268 27389779;27334371;34321324 False 3 67;33;0 8.355 False ENSG00000138411 ENSG00000138411 HGNC:29853 HEPACAM gene HEPACAM Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925 27389245;21419380 False 3 75;25;0 8.355 True ENSG00000165478 ENSG00000165478 HGNC:26361 HERC2 gene HERC2 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 38, OMIM:615516 23065719;23243086;30902390;32571899;27848944;26077850;27759030 False 3 100;0;0 8.355 False ENSG00000128731 ENSG00000128731 HGNC:4868 HEXA gene HEXA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms, 272800;Tay-Sachs disease, 272800 False 3 0;0;0 8.355 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXA gene HEXA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms, 272800;Tay-Sachs disease, 272800 30006889;21937992;7551830;14972652 False 3 67;33;0 8.355 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 27604308 False 3 0;0;0 8.355 False ENSG00000049860 ENSG00000049860 HGNC:4879 HEXB gene HEXB Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 2967418;21153386;22848519;30075786;28553389;7626071 False 3 33;67;0 8.355 False ENSG00000049860 ENSG00000049860 HGNC:4879 HFE gene HFE London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, OMIM:235200 27604308 False 3 100;0;0 8.355 False ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2A, 602390;Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000168509 ENSG00000168509 HGNC:4887 HGD gene HGD London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Alkaptonuria 27604308 False 3 0;0;0 8.355 False ENSG00000113924 ENSG00000113924 HGNC:4892 HGSNAT gene HGSNAT London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type III;Mucopolysaccharidosis, Type III;Retinitis Pigmentosa 73;Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930;Mucopolysaccharidosis Type IIIC;MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses) 27604308 False 3 0;0;0 8.355 False ENSG00000165102 ENSG00000165102 HGNC:26527 HIBCH gene HIBCH London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620;HIBCH deficiency;Methacrylic aciduria (Organic acidurias) 27604308 False 3 100;0;0 8.355 False ENSG00000198130 ENSG00000198130 HGNC:4908 HID1 gene HID1 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Syndromic infantile encephalopathy;Hypopituitarism;Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983 33999436 False 3 100;0;0 8.355 False ENSG00000167861 ENSG00000167861 HGNC:15736 HLCS gene HLCS London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency;Holocarboxylase synthetase deficiency, 253270;lactic acidosis with seizures and eczema, immune deficiency;Holocarboxylase synthetase deficiency (Disorders of biotin metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000159267 ENSG00000159267 HGNC:4976 HMBS gene HMBS London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria, acute intermittent, nonerythroid variant, 176000;Acute intermittent porphyria (Acute neuropathic porphyrias);Porphyria, acute intermittent, 176000 27604308 False 3 100;0;0 8.355 False ENSG00000256269 ENSG00000256269 HGNC:4982 HMGCL gene HMGCL London North GLH;NHS GMS;Expert Review Green;Other Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias);3-Hydroxy-3-methylglutaryl-CoA lyase deficiency;HMG-CoA lyase deficiency, 246450;HMGCLD 27604308 False 3 67;0;33 8.355 False ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCL gene HMGCL Wessex and West Midlands GLH;NHS GMS;Other;Expert Review Green;Expert Review Green;Other Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal HMG-CoA lyase deficiency, 246450;3-Hydroxy-3-methylglutaryl-CoA lyase deficiency;HMGCLD 28583327;8617516;9463337;11129331 False 3 67;33;0 8.355 False ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCS2 gene HMGCS2 NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency 27604308 False 3 0;0;100 8.355 False ENSG00000134240 ENSG00000134240 HGNC:5008 HNRNPH2 gene HNRNPH2 Wessex and West Midlands GLH;NHS GMS;Other;Expert Review Green;Expert Review Green;Other Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked, syndromic, Bain type, 300986;MRXSB 27545675 False 3 67;33;0 8.355 False ENSG00000126945 ENSG00000126945 HGNC:5042 HNRNPR gene HNRNPR Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Seizures;Postnatal microcephaly;Short digit;Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073 31079900;26795593 False 3 33;67;0 8.355 False ENSG00000125944 ENSG00000125944 HGNC:5047 HNRNPU gene HNRNPU Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy;Epileptic encephalopathy, early infantile, 54, 617391 22190369;25356899;27652284;23708187 False 3 17;17;67 8.355 False ENSG00000153187 ENSG00000153187 HGNC:5048 HOGA1 gene HOGA1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria Type III (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Hyperoxaluria, primary, type III 613616 27604308 False 3 0;0;0 8.355 False ENSG00000241935 ENSG00000241935 HGNC:25155 HPD gene HPD Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hawkinsinuria 140350;Tyrosinemia, type III 276710" 27604308;10942115;11073718;26226126;30984715;17560158 False 3 0;0;0 8.355 False ENSG00000158104 ENSG00000158104 HGNC:5147 HPDL gene HPDL Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026;Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613 32707086;33188300 False 3 100;0;0 8.355 False ENSG00000186603 ENSG00000186603 HGNC:28242 HPRT1 gene HPRT1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Hyperuricemia, HRPT-related, OMIM:300323;Lesch-Nyhan syndrome, OMIM:300322 27604308 False 3 0;0;0 8.355 False ENSG00000165704 ENSG00000165704 HGNC:5157 HPS1 gene HPS1 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1 203300 27604308;8896559;9562579;9705234;10971344 False 3 0;0;0 8.355 False ENSG00000107521 ENSG00000107521 HGNC:5163 HRAS gene HRAS Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Costello syndrome, 218040;Schimmelpenning-Feuerstein-Mims syndrome, 218040 28337834;27195699;26888048;22926243 False 3 67;33;0 8.355 False ENSG00000174775 ENSG00000174775 HGNC:5173 HS2ST1 gene HS2ST1 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;dysmorphic features;congenital anomalies 33159882 False 3 0;100;0 8.355 False ENSG00000153936 ENSG00000153936 HGNC:5193 HSD17B10 gene HSD17B10 Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) HSD10 mitochondrial disease, OMIM:300438 19706438;22132097;12696021;26950678;27604308 False 3 100;0;0 8.355 False ENSG00000072506 ENSG00000072506 HGNC:4800 HSD17B4 gene HSD17B4 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency, 261515 9345094;9482850;9915948;11743515;25967389 False 3 67;33;0 8.355 False ENSG00000133835 ENSG00000133835 HGNC:5213 HSD17B4 gene HSD17B4 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency, 261515;Peroxisomal D-bifunctional protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) 27604308 False 3 0;0;0 8.355 False ENSG00000133835 ENSG00000133835 HGNC:5213 HSD3B7 gene HSD3B7 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis);Bile acid synthesis defect, congenital, 1, 607765 27604308 False 3 100;0;0 8.355 False ENSG00000099377 ENSG00000099377 HGNC:18324 HSPD1 gene HSPD1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR);Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD) 27604308 False 3 100;0;0 8.355 False ENSG00000144381 ENSG00000144381 HGNC:5261 HTRA2 gene HTRA2 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Literature;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII False 3 67;33;0 8.355 False ENSG00000115317 ENSG00000115317 HGNC:14348 HTRA2 gene HTRA2 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII 617248 27208207;27696117 False 3 100;0;0 8.355 False ENSG00000115317 ENSG00000115317 HGNC:14348 HYAL1 gene HYAL1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Mucopolysaccharidosis type IX, 601492;MPS IX, Natowicz (MPS IV, Morquio disease) 27604308 False 3 100;0;0 8.355 False ENSG00000114378 ENSG00000114378 HGNC:5320 IARS2 gene IARS2 Expert Review Green;London North GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));No OMIM phenotype PMID: 25130867 (3 related cases with CAGSSS homozygous for a rare nonsynonymous variant in this gene, an unrelated case with Leigh syndrome compound heterozygous for variants within this gene);PMID: 27078007 (full text not available to confirm findings). False 3 100;0;0 8.355 False ENSG00000067704 ENSG00000067704 HGNC:29685 IBA57 gene IBA57 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330;?Spastic paraplegia 74, autosomal recessive, OMIM:616451 23462291;25971455 False 3 100;0;0 8.355 False ENSG00000181873 ENSG00000181873 HGNC:27302 IDH2 gene IDH2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias);D-2-hydroxyglutaric aciduria 2, 613657 24049096;20847235 False 3 100;0;0 8.355 False ENSG00000182054 ENSG00000182054 HGNC:5383 IDS gene IDS London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females MUCOPOLYSACCHARIDOSIS TYPE 2;MPS II, Hunter disease (Mucopolysaccharidoses);Mucopolysaccharidosis II, 309900;Mucopolysaccharidosis Type II 27604308 False 3 0;0;0 8.355 False ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hurler syndrome;Mucopolysaccharidosis type 1H/S;MPS I, Hurler, Scheie disease (Mucopolysaccharidoses);Scheie syndrome;Hurler-Scheie syndrome;Mucopolysaccharidosis type 1S;Mucopolysaccharidosis type 1H;Mucopolysaccharidosis Ih/s, 607015;Mucopolysaccharidosis, Type I;Mucopolysaccharidosis Is, 607016;Mucopolysaccharidosis Ih, 607014 27604308 False 3 0;0;0 8.355 False ENSG00000127415 ENSG00000127415 HGNC:5391 IER3IP1 gene IER3IP1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Other;Expert Review Green;Expert Review Green;Other Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, 614231;MEDS 21835305;22991235;24138066 False 3 67;33;0 8.355 False ENSG00000134049 ENSG00000134049 HGNC:18550 IER3IP1 gene IER3IP1 Expert Review Green;Expert Review Green;Other Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, 614231;MEDS 24138066;22991235;21835305 False 3 67;0;33 8.355 False ENSG00000134049 ENSG00000134049 HGNC:18550 IFIH1 gene IFIH1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aicardi-Goutieres syndrome 7, OMIM:615846 24995871;29239743;25604658;24686847;29270977 False 3 67;33;0 8.355 False ENSG00000115267 ENSG00000115267 HGNC:18873 IKBKG gene IKBKG Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Incontinentia pigmenti, 308300 30151858;28794079;24339369;28870493 False 3 75;25;0 8.355 True ENSG00000073009 ENSG00000269335 HGNC:5961 IQSEC2 gene IQSEC2 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked 1, OMIM:309530 20473311;23674175;30842726;31415821;33368194 False 3 83;17;0 8.355 False ENSG00000124313 ENSG00000124313 HGNC:29059 IRF2BPL gene IRF2BPL Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088;neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759 30057031;28135719;25363768;30166628 False 3 75;25;0 8.355 False ENSG00000119669 ENSG00000119669 HGNC:14282 ISCA1 gene ISCA1 Expert Review Green;Expert Review Green;Expert Review;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 29767723;28356563 False 3 0;0;0 8.355 False ENSG00000135070 ENSG00000135070 HGNC:28660 ISCA2 gene ISCA2 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 4 616370 25539947;29359243 False 3 100;0;0 8.355 False ENSG00000165898 ENSG00000165898 HGNC:19857 ISCU gene ISCU Expert Review Green;Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy with lactic acidosis, hereditary, 255125;Disorders of iron homeostasis;Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Rhabdomyolysis and metabolic muscle disorders 18304497;29079705;18296749;19567699;20206689;21165651;22125086 False 3 100;0;0 8.355 False ENSG00000136003 ENSG00000136003 HGNC:29882 ISPD gene ISPD Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 26404900;26687144 False 3 0;0;0 8.355 False ENSG00000214960 ENSG00000214960 HGNC:37276 ITPA gene ITPA Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 35, 616647 False 3 67;33;0 8.355 False ENSG00000125877 ENSG00000125877 HGNC:6176 ITPA gene ITPA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Inosine triphosphatase deficiency (Disorders of purine metabolism);Epileptic encephalopathy, early infantile, 35, 616647;[Inosine triphosphatase deficiency], 613850 27604308 False 3 100;0;0 8.355 False ENSG00000125877 ENSG00000125877 HGNC:6176 IVD gene IVD London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.;Isovaleric acidemia;Isovaleric aciduria (Organic acidurias) 27604308;24816252 False 3 0;0;0 8.355 False ENSG00000128928 ENSG00000128928 HGNC:6186 KARS gene KARS London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 89, 613916;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 27604308 False 3 100;0;0 8.355 False ENSG00000065427 ENSG00000065427 HGNC:6215 KARS gene KARS Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal "Global developmental delay;Intellectual disability;Seizures;Charcot-Marie-Tooth disease, recessive intermediate, B - 613641;Deafness, autosomal recessive 89 - 613916" 29615062;30252186;28496994 False 3 67;33;0 8.355 False ENSG00000065427 ENSG00000065427 HGNC:6215 KAT5 gene KAT5 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Severe global developmental delay;Intellectual disability;Seizures;Microcephaly;Behavioral abnormality;Sleep disturbance;Morphological abnormality of the central nervous system;Short stature;Oral cleft;Abnormality of the face 32822602 False 3 40;20;40 8.355 False ENSG00000172977 ENSG00000172977 HGNC:5275 KAT8 gene KAT8 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Li-Ghorgani-Weisz-Hubshman syndrome, OMIM:618974;Global developmental delay;Intellectual disability;Seizures;Abnormality of vision;Feeding difficulties;Abnormality of the cardiovascular system;Autism 31794431 False 3 100;0;0 8.355 False Other ENSG00000103510 ENSG00000103510 HGNC:17933 KCNA2 gene KCNA2 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 32 OMIM:616366;developmental and epileptic encephalopathy, 32 MONDO:0014607 25751627;28032718;25477152;29050392 False 3 83;17;0 8.355 False ENSG00000177301 ENSG00000177301 HGNC:6220 KCNB1 gene KCNB1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 26 Torkamani et al (2014) Ann. Neurol. 76: 529-540, 2014 False 3 83;17;0 8.355 False ENSG00000158445 ENSG00000158445 HGNC:6231 KCNC1 gene KCNC1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, progressive myoclonic 7 616187 25401298;28145425 False 3 17;17;67 8.355 False ENSG00000129159 ENSG00000129159 HGNC:6233 KCNC2 gene KCNC2 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted epileptic encephalopathy;spastic tetraplegia;opisthotonus attacks;intellectual disability;West syndrome 32392612;31972370;35314505 False 3 75;25;0 8.355 False ENSG00000166006 ENSG00000166006 HGNC:6234 KCND2 gene KCND2 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert list Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown epilepsy, NBO:0000642;seizure, HP:0001250 24501278;16934482;29581270;34245260 False 3 33;17;50 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000184408 ENSG00000184408 HGNC:6238 KCNH1 gene KCNH1 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Temple-Baraitser syndrome, OMIM:611816;Zimmermann-Laband syndrome 1, OMIM:135500;Intellectual disability;Encephalopathy without features of TBS/ZLS 18203178;20009591;20683999;21626675;23994350;25420144;33811134 False 3 100;0;0 8.355 False ENSG00000143473 ENSG00000143473 HGNC:6250 KCNJ10 gene KCNJ10 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME);SESAME syndrome Scholl et al (2009) False 3 83;17;0 8.355 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ11 gene KCNJ11 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes, permanent neonatal, with or without neurologic features, 606176;DEND syndrome 25678012;16670688;16609879;27681997;17065345;28943513;27181099 False 3 67;33;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000187486 ENSG00000187486 HGNC:6257 KCNK4 gene KCNK4 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental delay;Intellectual disability;Seizures;Gingival overgrowth;Hypertrichosis 30290154 False 3 33;67;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000182450 ENSG00000182450 HGNC:6279 KCNMA1 gene KCNMA1 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cerebellar atrophy, developmental delay, and seizures, OMIM:617643;Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551;Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446;Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276;Liang-Wang syndrome, OMIM:618729;Liang-Wang syndrome, MONDO:0032886;{Epilepsy, idiopathic generalized, susceptibility to, 16}, OMIM:618596;Epilepsy, idiopathic generalized, susceptibility to, 16, MONDO:0032827 15937479;26195193;27567911;29330545;29545233;31152168;31427379 False 3 36;18;45 8.355 True ENSG00000156113 ENSG00000156113 HGNC:6284 KCNQ2 gene KCNQ2 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 7, OMIM:613720;Seizures, benign neonatal, 1, OMIM:121200 10323247;11175290;11572947;14534157;15249611;16235065;17872363;27602407;33811133 False 3 83;17;0 8.355 False ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign neonatal, type 2 False 3 83;17;0 8.355 False ENSG00000184156 ENSG00000184156 HGNC:6297 KCNQ5 gene KCNQ5 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 46, 617601 28669405;30359776 False 3 67;33;0 8.355 False ENSG00000185760 ENSG00000185760 HGNC:6299 KCNT1 gene KCNT1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 14;Epilepsy, nocturnal frontal lobe, 5;MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY;SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY Barcia at al (2012) Nature Genet 44(11): 1255-1261;Heron et al (2012) Nature Genet 44(11): 1188-1190 False 3 86;14;0 8.355 False ENSG00000107147 ENSG00000107147 HGNC:18865 KCNT2 gene KCNT2 Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Expert list Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown epilepsy;?Epileptic encephalopathy, early infantile, 57 29069600;29740868 False 3 67;33;0 8.355 False ENSG00000162687 ENSG00000162687 HGNC:18866 KCTD3 gene KCTD3 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal No OMIM number;Epileptic encephalopathy 29406573;27848944;25558065 False 3 67;33;0 8.355 False ENSG00000136636 ENSG00000136636 HGNC:21305 KCTD7 gene KCTD7 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726 22693283;22748208 False 3 17;17;67 8.355 False ENSG00000243335 ENSG00000243335 HGNC:21957 KIAA1109 gene KIAA1109 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Alkuraya-Kucinskas syndrome 617822;seizures 29290337;19640479;30906834 False 3 33;67;0 8.355 True ENSG00000138688 ENSG00000138688 HGNC:26953 KIF1A gene KIF1A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NESCAV syndrome, OMIM:614255 25265257 False 3 33;67;0 8.355 False ENSG00000130294 ENSG00000130294 HGNC:888 KIF2A gene KIF2A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 3, 615411 27896282;27747449;23603762 False 3 33;67;0 8.355 False ENSG00000068796 ENSG00000068796 HGNC:6318 KIF5C gene KIF5C Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 2, 615282 23603762;23033978;29048727 False 3 67;33;0 8.355 False ENSG00000168280 ENSG00000168280 HGNC:6325 KLHL20 gene KLHL20 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder 36214804 False 3 100;0;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000076321 ENSG00000076321 HGNC:25056 KMT2E gene KMT2E Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown O'Donnell-Luria-Rodan syndrome, 618512;Global developmental delay;Intellectual disability;Autism;Seizures;Abnormality of skull size 31079897;34321323 False 3 67;33;0 8.355 False ENSG00000005483 ENSG00000005483 HGNC:18541 KPTN gene KPTN Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 41, OMIM:615637;macrocephaly-developmental delay syndrome, MONDO:0014289 24239382;25847626;32358097;32808430 False 3 60;40;0 8.355 False ENSG00000118162 ENSG00000118162 HGNC:6404 KRAS gene KRAS Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 2, 615278 21871821;23059812;16474405;21871821;17601930 False 3 67;33;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000133703 ENSG00000133703 HGNC:6407 KYNU gene KYNU London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism);VACTERL-like phenotype;multiple congenital malformations;?Hydroxykynureninuria, 236800 27604308;17334708;28792876 False 3 0;0;100 8.355 False ENSG00000115919 ENSG00000115919 HGNC:6469 L2HGDH gene L2HGDH NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria, 236792 27604308 False 3 0;0;100 8.355 False ENSG00000087299 ENSG00000087299 HGNC:20499 LAMP2 gene LAMP2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease 27604308 False 3 100;0;0 8.355 False ENSG00000005893 ENSG00000005893 HGNC:6501 LARGE1 gene LARGE1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154;N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27604308 False 3 0;0;0 8.355 False ENSG00000133424 ENSG00000133424 HGNC:6511 LARS gene LARS Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 1, MIM# 615438 32699352 False 3 100;0;0 8.355 False ENSG00000133706 ENSG00000133706 HGNC:6512 LARS gene LARS Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Infantile liver failure syndrome 1, 615438 28774368;30349989;22607940 False 3 100;0;0 8.355 False ENSG00000133706 ENSG00000133706 HGNC:6512 LARS2 gene LARS2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4, OMIM:615300;Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only);Multiple respiratory chain complex deficiencies (disorders of protein synthesis 27604308 False 3 100;0;0 8.355 False ENSG00000011376 ENSG00000011376 HGNC:17095 LBR gene LBR Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Reynolds syndrome 613471;Greenberg skeletal dysplasia 215140;Pelger-Huet anomaly 169400;Pelger-Huet anomaly with mild skeletal anomalies 618019 27604308;12118250;14617022;18382993;21327084;14684697;25348816;23824842 False 3 0;0;0 8.355 False ENSG00000143815 ENSG00000143815 HGNC:6518 LCAT gene LCAT London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Norum disease/LCAT deficiency, 245900;Fish-eye disease, 136120;Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000213398 ENSG00000213398 HGNC:6522 LCT gene LCT London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Lactose intolerance (Other carbohydrate disorders);Lactase deficiency, congenital, 223000 27604308 False 3 100;0;0 8.355 False ENSG00000115850 ENSG00000115850 HGNC:6530 LDHA gene LDHA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Glycogen storage disease XI, 612933;Muscle LDH deficiency (Glycogen storage disorders) 27604308 False 3 100;0;0 8.355 False ENSG00000134333 ENSG00000134333 HGNC:6535 LDLR gene LDLR Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolemia, familial, 1 143890;LDL cholesterol level QTL2 143890 27604308;27821657;30311388 False 3 0;0;0 8.355 False ENSG00000130164 ENSG00000130164 HGNC:6547 LDLRAP1 gene LDLRAP1 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypercholesterolemia, familial, 4 603813 27604308;11326085;12016260;12958143;15599766;29245109 False 3 0;0;0 8.355 False ENSG00000157978 ENSG00000157978 HGNC:18640 LETM1 gene LETM1 Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214 False 3 50;25;25 8.355 False ENSG00000168924 ENSG00000168924 HGNC:6556 LGI1 gene LGI1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Expert Review Green;UKGTN Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial temporal lobe, 1 600512 15079010;11810107;22496201 False 3 71;14;14 8.355 False ENSG00000108231 ENSG00000108231 HGNC:6572 LIAS gene LIAS Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperglycinemia, lactic acidosis, and seizures, 614462 False 3 67;33;0 8.355 False ENSG00000121897 ENSG00000121897 HGNC:16429 LIAS gene LIAS London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462;Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.355 False ENSG00000121897 ENSG00000121897 HGNC:16429 LIPA gene LIPA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cholesteryl ester storage disease 27604308 False 3 0;0;0 8.355 False ENSG00000107798 ENSG00000107798 HGNC:6617 LIPT1 gene LIPT1 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Lipoyltransferase 1 deficiency False 3 100;0;0 8.355 False ENSG00000144182 ENSG00000144182 HGNC:29569 LIPT2 gene LIPT2 Expert Review Green;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 28803783;28757203 False 3 0;100;0 8.355 False ENSG00000175536 ENSG00000175536 HGNC:37216 LMBRD1 gene LMBRD1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblF type, 277380 27604308 False 3 0;0;0 8.355 False ENSG00000168216 ENSG00000168216 HGNC:23038 LMBRD2 gene LMBRD2 Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Microcephaly;Seizures;Abnormality of nervous system morphology;Abnormality of the eye 32820033;https://doi.org/10.1101/797787 False 3 0;100;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000164187 ENSG00000164187 HGNC:25287 LONP1 gene LONP1 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) 25574826;25808063 False 3 100;0;0 8.355 False ENSG00000196365 ENSG00000196365 HGNC:9479 LPIN1 gene LPIN1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive 27604308 False 3 100;0;0 8.355 False ENSG00000134324 ENSG00000134324 HGNC:13345 LPL gene LPL London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lipoprotein lipase deficiency, 238600;Combined hyperlipidemia, familial, 144250;Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) 27604308 False 3 100;0;0 8.355 False ENSG00000175445 ENSG00000175445 HGNC:6677 LRPPRC gene LRPPRC London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, French-Canadian type, 220111;Mitochondrial Diseases;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Isolated complex IV deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) 27604308 False 3 100;0;0 8.355 False ENSG00000138095 ENSG00000138095 HGNC:15714 LYRM4 gene LYRM4 Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 19, OMIM:615595 23814038;31497476 False 3 100;0;0 8.355 False ENSG00000214113 ENSG00000214113 HGNC:21365 LYRM7 gene LYRM7 Expert Review Green;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 8;Isolated complex III deficiency;severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle;leukoencephalopathy and complex III deficiency;615838 27564080;24014394;28694194;27151179;26912632 False 3 100;0;0 8.355 False ENSG00000186687 ENSG00000186687 HGNC:28072 MACF1 gene MACF1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability;Seizures;Lissencephaly;Brainstem dysplasia;Lissencephaly 9 with complex brainstem malformation, 618325 30471716 False 3 67;33;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000127603 ENSG00000127603 HGNC:13664 MADD gene MADD Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal DEEAH syndrome, OMIM:619004;deeah syndrome, MONDO:0033561: Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, OMIM:619005;neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia, MONDO:0033562 28940097;29302074;32761064 False 3 100;0;0 8.355 False ENSG00000110514 ENSG00000110514 HGNC:6766 MAF gene MAF Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ayme-Gripp syndrome 601088 25865493 False 3 67;33;0 8.355 False ENSG00000178573 ENSG00000178573 HGNC:6776 MAGT1 gene MAGT1 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853 27604308;27393411;29581357;25956530;21796205 False 3 0;0;0 8.355 False ENSG00000102158 ENSG00000102158 HGNC:28880 MAN1B1 gene MAN1B1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal MAN1B1-CDG (Disorders of protein N-glycosylation);Mental retardation, autosomal recessive 15 614202 27604308 False 3 0;0;0 8.355 False ENSG00000177239 ENSG00000177239 HGNC:6823 MAN2B1 gene MAN2B1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II 27604308 False 3 0;0;0 8.355 False ENSG00000104774 ENSG00000104774 HGNC:6826 MANBA gene MANBA Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal "Mannosidosis, beta 248510" 27604308 False 3 0;0;0 8.355 False ENSG00000109323 ENSG00000109323 HGNC:6831 MAOA gene MAOA Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Brunner syndrome 300615;{Antisocial behavior} 300615 27604308;8211186;24169519;25807999 False 3 0;0;0 8.355 False ENSG00000189221 ENSG00000189221 HGNC:6833 MAP2K1 gene MAP2K1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 3, 615279 18039235;27862862 False 3 67;33;0 8.355 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 4, 615280 29799162;24719372;27799067 False 3 67;33;0 8.355 False ENSG00000126934 ENSG00000126934 HGNC:6842 MARS2 gene MARS2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Spastic Ataxia 13, autosomal recessive, 611390;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));?Combined oxidative phosphorylation deficiency 25 27604308 False 3 100;0;0 8.355 False ENSG00000247626 ENSG00000247626 HGNC:25133 MAT1A gene MAT1A London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000151224 ENSG00000151224 HGNC:6903 MBD5 gene MBD5 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 1 Wagenstaller et al (2007) Am J Hum Genet 81: 768-779 False 3 83;17;0 8.355 False ENSG00000204406 ENSG00000204406 HGNC:20444 MBOAT7 gene MBOAT7 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 57 617188 False 3 67;33;0 8.355 False ENSG00000125505 ENSG00000125505 HGNC:15505 MCCC1 gene MCCC1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 27604308;24816252 False 3 0;0;0 8.355 False ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 27604308 False 3 0;0;0 8.355 False ENSG00000131844 ENSG00000131844 HGNC:6937 MCEE gene MCEE London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Methylmalonyl-CoA epimerase deficiency (Organic acidurias);Methylmalonyl-CoA epimerase deficiency;metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections 27604308 False 3 0;0;0 8.355 False ENSG00000124370 ENSG00000124370 HGNC:16732 MCOLN1 gene MCOLN1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mucolipidosis, Type IV;Mucolipidosis IV (Other lysosomal disorders) 27604308 False 3 0;0;0 8.355 False ENSG00000090674 ENSG00000090674 HGNC:13356 MDH2 gene MDH2 Expert Review Green;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 51 617339 27989324 False 3 100;0;0 8.355 False ENSG00000146701 ENSG00000146701 HGNC:6971 MDH2 gene MDH2 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Literature;Expert Review Green;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 51 False 3 67;33;0 8.355 False ENSG00000146701 ENSG00000146701 HGNC:6971 MECP2 gene MECP2 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Encephalopathy, neonatal severe;Angelman syndrome;Mental retardation, X-linked syndromic, Lubs type;Mental retardation, X-linked, syndromic 13;Rett syndrome Wan et al (1999) Am J Hum Genet 5: 1520_1529;Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117;Ramocki et al (2009) Am J Med Genet Part A 152A: 1079_1088;Couvert et al (2001) Hum Mol Genet 10(9): 941-946 False 3 86;14;0 8.355 False ENSG00000169057 ENSG00000169057 HGNC:6990 MECR gene MECR Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 27817865 False 3 100;0;0 8.355 False ENSG00000116353 ENSG00000116353 HGNC:19691 MED11 gene MED11 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327 36001086 False 3 100;0;0 8.355 False ENSG00000161920 ENSG00000161920 HGNC:32687 MED12 gene MED12 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Lujan-Fryns syndrome, 309520;Opitz-Kaveggia syndrome, 305450 17369503;17334363;24039113;19938245 False 3 75;25;0 8.355 True ENSG00000184634 ENSG00000184634 HGNC:11957 MED27 gene MED27 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Axial hypotonia;Spasticity;Dystonia;Cerebellar hypoplasia;Cataracts;Epilepsy 33443317 False 3 100;0;0 8.355 False ENSG00000160563 ENSG00000160563 HGNC:2377 MEF2C gene MEF2C Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 20;MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS;Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Le Meur et al (2008) J Med Genet 47: 22-29 False 3 83;17;0 8.355 False ENSG00000081189 ENSG00000081189 HGNC:6996 MFF gene MFF London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2;Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086;Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.355 False ENSG00000168958 ENSG00000168958 HGNC:24858 MFF gene MFF Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 False 3 67;33;0 8.355 False ENSG00000168958 ENSG00000168958 HGNC:24858 MFN2 gene MFN2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087;Hereditary motor and sensory neuropathy VIA, OMIM:601152 27604308 False 3 100;0;0 8.355 False ENSG00000116688 ENSG00000116688 HGNC:16877 MFSD8 gene MFSD8 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7 61095 False 3 0;0;0 8.355 False ENSG00000164073 ENSG00000164073 HGNC:28486 MFSD8 gene MFSD8 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7 610951 30249282;30144815;30301600;28586915 False 3 29;14;57 8.355 False ENSG00000164073 ENSG00000164073 HGNC:28486 MGAT2 gene MGAT2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type IIa 212066 19419693 False 3 0;0;0 8.355 False ENSG00000168282 ENSG00000168282 HGNC:7045 MGME1 gene MGME1 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Mitochondrial DNA depletion syndrome 11, 615084;Disorders of mitochondrial DNA maintenance and integrity False 3 100;0;0 8.355 False ENSG00000125871 ENSG00000125871 HGNC:16205 MICU1 gene MICU1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Myopathy with extrapyramidal signs 615673 24336167;29721912 False 3 100;0;0 8.355 False ENSG00000107745 ENSG00000107745 HGNC:1530 MINPP1 gene MINPP1 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 33257696;33168985 False 3 100;0;0 8.355 False ENSG00000107789 ENSG00000107789 HGNC:7102 MIPEP gene MIPEP Expert Review Green;Expert Review Green;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 31, 617228 27799064 False 3 100;0;0 8.355 False ENSG00000027001 ENSG00000027001 HGNC:7104 MLC1 gene MLC1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts, 604004;generalized tonic-clonic seizures;focal seizures 21624973;29466841 False 3 67;33;0 8.355 False ENSG00000100427 ENSG00000100427 HGNC:17082 MLYCD gene MLYCD London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Malonyl-CoA decarboxylase deficiency;malonic aciduria;Malonyl-CoA decarboxylase deficiency (Organic acidurias);3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism) 27604308 False 3 0;0;0 8.355 False ENSG00000103150 ENSG00000103150 HGNC:7150 MMAA gene MMAA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive 251100;Defect in adenosylcobalamin synthesis-cbl A (Disorders of cobalamin absorption, transport and metabolism) 27604308 False 3 0;0;0 8.355 False ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Defect in adenosylcobalamin synthesis-cbl B (Disorders of cobalamin absorption, transport and metabolism);Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110 27604308 False 3 0;0;0 8.355 False ENSG00000139428 ENSG00000139428 HGNC:19331 MMACHC gene MMACHC Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, 277400 20924684;17431913;30204970 False 3 67;33;0 8.355 False ENSG00000132763 ENSG00000132763 HGNC:24525 MMACHC gene MMACHC London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, 277400 27604308 False 3 0;0;0 8.355 False ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Homocystinuria, cblD type, variant 1 False 3 0;0;0 8.355 False ENSG00000168288 ENSG00000168288 HGNC:25221 MMADHC gene MMADHC Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblD type, 277410 False 3 67;33;0 8.355 False ENSG00000168288 ENSG00000168288 HGNC:25221 MOCS1 gene MOCS1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency A 252150 False 3 29;14;57 8.355 False ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS1 gene MOCS1 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency A 252150 27604308;9731530;12754701 False 3 0;0;0 8.355 False ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency B 252160 False 3 29;14;57 8.355 False ENSG00000164172 ENSG00000164172 HGNC:7193 MOCS2 gene MOCS2 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency B 252160 27604308;10053004;12754701;12732628;11746050;16021469;16737835 False 3 0;0;0 8.355 False ENSG00000164172 ENSG00000164172 HGNC:7193 MOGS gene MOGS Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb, 606056 False 3 67;33;0 8.355 False ENSG00000115275 ENSG00000115275 HGNC:24862 MOGS gene MOGS London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb 606056;MOGS-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type IIb, 606056;(MOGS-CDG (Disorders of protein N-glycosylation)) 20301507;26805780;24716661;4716661 False 3 100;0;0 8.355 False ENSG00000115275 ENSG00000115275 HGNC:24862 MPC1 gene MPC1 Expert Review Green;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial pyruvate carrier deficiency, OMIM:614741 27176894;22628558;27835892 False 3 100;0;0 8.355 False ENSG00000060762 ENSG00000060762 HGNC:21606 MPDU1 gene MPDU1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, 609180;seizures 28122681;11733556;11733564 False 3 67;33;0 8.355 False ENSG00000129255 ENSG00000129255 HGNC:7207 MPDU1 gene MPDU1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If 609180;Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 27604308 False 3 0;0;0 8.355 False ENSG00000129255 ENSG00000129255 HGNC:7207 MPI gene MPI London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, OMIM:602579;MPI-CDG, MONDO:0011257;Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation) 12414827;9585601;10980531;33098580;33204592;32905087;32266963;30242110 False 3 0;0;0 8.355 False ENSG00000178802 ENSG00000178802 HGNC:7216 MPV17 gene MPV17 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA Depletion Syndrome;Disorders of mitochondrial DNA maintenance and integrity;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 27604308 False 3 100;0;0 8.355 False ENSG00000115204 ENSG00000115204 HGNC:7224 MRPL3 gene MRPL3 Expert Review Green;Expert Review Green;NHS GMS;London North GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 9 614582 27815843;21786366 False 3 50;50;0 8.355 False ENSG00000114686 ENSG00000114686 HGNC:10379 MRPL44 gene MRPL44 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 16, 615395;Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 25797485;23315540 False 3 100;0;0 8.355 False ENSG00000135900 ENSG00000135900 HGNC:16650 MRPS2 gene MRPS2 Expert Review Green;Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 36 617950;No OMIM phenotype 29576219 False 3 0;100;0 8.355 False ENSG00000122140 ENSG00000122140 HGNC:14495 MRPS22 gene MRPS22 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 5, 611719;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 27604308 False 3 100;0;0 8.355 False ENSG00000175110 ENSG00000175110 HGNC:14508 MRPS34 gene MRPS34 Expert Review Green;Literature;Expert Review;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 32 617664 28777931 False 3 100;0;0 8.355 False ENSG00000074071 ENSG00000074071 HGNC:16618 MSMO1 gene MSMO1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis);Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834;Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 27604308 False 3 100;0;0 8.355 False ENSG00000052802 ENSG00000052802 HGNC:10545 MSTO1 gene MSTO1 Expert list;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia OMIM:617675;mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 28554942;28544275;37431817 False 3 0;0;0 8.355 False ENSG00000125459 ENSG00000125459 HGNC:29678 MT-ATP6 gene MT-ATP6 Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000198899 ENSG00000198899 HGNC:7414 MT-ATP8 gene MT-ATP8 Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY;CARDIOMYOPATHY, INFANTILE HYPERTROPHIC;BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO False 3 100;0;0 8.355 False ENSG00000228253 ENSG00000228253 HGNC:7415 MT-CO1 gene MT-CO1 Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL CYTOCHROME c OXIDASE I DEFICIENCY;SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC;LEBER OPTIC ATROPHY;MYOGLOBINURIA, RECURRENT;CYTOCHROME c OXIDASE DEFICIENCY False 3 100;0;0 8.355 False ENSG00000198804 ENSG00000198804 HGNC:7419 MT-CO2 gene MT-CO2 Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY False 3 100;0;0 8.355 False ENSG00000198712 ENSG00000198712 HGNC:7421 MT-CO3 gene MT-CO3 Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL LEBER OPTIC ATROPHY;SEIZURES AND LACTIC ACIDOSIS;MITOCHONDRIAL COMPLEX IV DEFICIENCY none False 3 100;0;0 8.355 False ENSG00000198938 ENSG00000198938 HGNC:7422 MT-CYB gene MT-CYB Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL ENCEPHALOMYOPATHY, MITOCHONDRIAL;CARDIOMYOPATHY, INFANTILE HISTIOCYTOID;MULTISYSTEM DISORDER;EXERCISE INTOLERANCE;PARKINSONISM/MELAS OVERLAP SYNDROME;EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA;LEBER OPTIC ATROPHY False 3 100;0;0 8.355 False ENSG00000198727 ENSG00000198727 HGNC:7427 MTFMT gene MTFMT Expert Review Green;Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 15 OMIM:614947;combined oxidative phosphorylation defect type 15 MONDO:0013987;Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248;mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 21907147;27564080;23499752;24461907 False 3 100;0;0 8.355 False ENSG00000103707 ENSG00000103707 HGNC:29666 MTHFR gene MTHFR London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Methylenetetrahydrofolate reductase deficiency (Disorders of folate metabolism and transport);Homocystinuria due to MTHFR deficiency 27604308 False 3 0;0;0 8.355 False ENSG00000177000 ENSG00000177000 HGNC:7436 MTHFR gene MTHFR Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Homocystinuria due to MTHFR deficiency, 236250;seizures 9453374;29391032;21778025;12406076;12840091;9587029;30267335;24556013 False 3 67;33;0 8.355 False ENSG00000177000 ENSG00000177000 HGNC:7436 MTHFS gene MTHFS Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 30031689;31844630;22303332;https://doi.org/10.1007/978-3-642-40337-8_10 False 3 100;0;0 8.355 False ENSG00000136371 ENSG00000136371 HGNC:7437 MT-ND1 gene MT-ND1 Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL MELAS SYNDROME;MITOCHONDRIAL COMPLEX I DEFICIENCY;LEBER OPTIC ATROPHY;DYSTONIA, ADULT-ONSET;DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL;SUDDEN INFANT DEATH SYNDROME False 3 100;0;0 8.355 False ENSG00000198888 ENSG00000198888 HGNC:7455 MT-ND2 gene MT-ND2 Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL MITOCHONDRIAL COMPLEX I DEFICIENCY;LEBER OPTIC ATROPHY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 100;0;0 8.355 False ENSG00000198763 ENSG00000198763 HGNC:7456 MT-ND3 gene MT-ND3 Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL MITOCHONDRIAL COMPLEX I DEFICIENCY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 100;0;0 8.355 False ENSG00000198840 ENSG00000198840 HGNC:7458 MT-ND4 gene MT-ND4 Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL MELAS SYNDROME;LEBER OPTIC ATROPHY AND DYSTONIA;LEBER OPTIC ATROPHY;MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 100;0;0 8.355 False ENSG00000198886 ENSG00000198886 HGNC:7459 MT-ND4L gene MT-ND4L Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL LEBER OPTIC ATROPHY False 3 100;0;0 8.355 False ENSG00000212907 ENSG00000212907 HGNC:7460 MT-ND5 gene MT-ND5 Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL MELAS SYNDROME;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY;LEBER OPTIC ATROPHY;MERRF SYNDROME False 3 100;0;0 8.355 False ENSG00000198786 ENSG00000198786 HGNC:7461 MT-ND6 gene MT-ND6 Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL MELAS SYNDROME;STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA;LEBER OPTIC ATROPHY AND DYSTONIA;LEBER OPTIC ATROPHY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 100;0;0 8.355 False ENSG00000198695 ENSG00000198695 HGNC:7462 MTO1 gene MTO1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 10, 614702;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));infantile hypertrophic cardiomyopathy and lactic acidosis. 27604308 False 3 100;0;0 8.355 False ENSG00000135297 ENSG00000135297 HGNC:19261 MTOR gene MTOR Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Other;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Smith-Kingsmore syndrome, OMIM:616638;macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, MONDO:0014716;Focal cortical dysplasia, type II, somatic, OMIM:607341isolated focal cortical dysplasia type II, MONDO:0011818 26018084;27830187;25878179;26542245;28892148 False 3 67;33;0 8.355 False ENSG00000198793 ENSG00000198793 HGNC:3942 MTPAP gene MTPAP Expert Review Green;Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Spastic ataxia 4, autosomal recessive 613672 27959697;26319014;25008111;20970105;27391121 False 3 100;0;0 8.355 False ENSG00000107951 ENSG00000107951 HGNC:25532 MTR gene MTR London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cblG complementation type 27604308 False 3 0;0;0 8.355 False ENSG00000116984 ENSG00000116984 HGNC:7468 MT-RNR1 gene MT-RNR1 Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL DEAFNESS, AMINOGLYCOSIDE-INDUCED;DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL;AUDITORY NEUROPATHY;CARDIOMYOPATHY, RESTRICTIVE False 3 100;0;0 8.355 False ENSG00000211459 ENSG00000211459 HGNC:7470 MTRR gene MTRR London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cbl E type 27604308 False 3 0;0;0 8.355 False ENSG00000124275 ENSG00000124275 HGNC:7473 MT-TA gene MT-TA Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL MITOCHONDRIAL MYOPATHY;MYOTONIC DYSTROPHY-LIKE MYOPATHY False 3 100;0;0 8.355 False ENSG00000210127 ENSG00000210127 HGNC:7475 MT-TC gene MT-TC Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL MELAS SYNDROME;DYSTONIA, MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000210140 ENSG00000210140 HGNC:7477 MT-TD gene MT-TD Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL MITOCHONDRIAL MYOPATHY, ISOLATED False 3 100;0;0 8.355 False ENSG00000210154 ENSG00000210154 HGNC:7478 MT-TE gene MT-TE Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS;DIABETES AND DEAFNESS, MATERNALLY INHERITED;MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT False 3 100;0;0 8.355 False ENSG00000210194 ENSG00000210194 HGNC:7479 MT-TF gene MT-TF Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000210049 ENSG00000210049 HGNC:7481 MT-TG gene MT-TG Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000210164 ENSG00000210164 HGNC:7486 MT-TH gene MT-TH Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000210176 ENSG00000210176 HGNC:7487 MT-TI gene MT-TI Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000210100 ENSG00000210100 HGNC:7488 MT-TK gene MT-TK Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000210156 ENSG00000210156 HGNC:7489 MT-TL1 gene MT-TL1 Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000209082 ENSG00000209082 HGNC:7490 MT-TL2 gene MT-TL2 Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000210191 ENSG00000210191 HGNC:7491 MT-TM gene MT-TM Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000210112 ENSG00000210112 HGNC:7492 MT-TN gene MT-TN Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000210135 ENSG00000210135 HGNC:7493 MTTP gene MTTP London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, 200100;(ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY);Familial abetalipoproteinaemia (Inherited hypolipidaemias) 27604308 False 3 100;0;0 8.355 False ENSG00000138823 ENSG00000138823 HGNC:7467 MT-TP gene MT-TP Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000210196 ENSG00000210196 HGNC:7494 MT-TQ gene MT-TQ Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000210107 ENSG00000210107 HGNC:7495 MT-TR gene MT-TR Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000210174 ENSG00000210174 HGNC:7496 MT-TS1 gene MT-TS1 Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000210151 ENSG00000210151 HGNC:7497 MT-TS2 gene MT-TS2 Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000210184 ENSG00000210184 HGNC:7498 MT-TV gene MT-TV Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000210077 ENSG00000210077 HGNC:7500 MT-TW gene MT-TW Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000210117 ENSG00000210117 HGNC:7501 MT-TY gene MT-TY Expert Review Green Epilepsy - early onset or syndromic MITOCHONDRIAL False 3 100;0;0 8.355 False ENSG00000210144 ENSG00000210144 HGNC:7502 MUT gene MUT London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.;Methylmalonic aciduria, mut(0) type 251000;Methylmalonyl-CoA mutase deficiency (Organic acidurias) 27604308 False 3 0;0;0 8.355 False ENSG00000146085 ENSG00000146085 HGNC:7526 MVK gene MVK Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyper-IgD syndrome, OMIM:260920;Mevalonic aciduria, OMIM:610377;Porokeratosis 3, multiple types, OMIM:175900 27604308;10417275;16835861;10369261;16435210;26202976 False 3 0;0;0 8.355 False ENSG00000110921 ENSG00000110921 HGNC:7530 NACC1 gene NACC1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Other;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 28132692 False 3 50;50;0 8.355 False ENSG00000160877 ENSG00000160877 HGNC:20967 NADK2 gene NADK2 Expert Review Green;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 2,4-dienoyl-CoA reductase deficiency, OMIM:616034 24847004;29388319;27940755 False 3 100;0;0 8.355 False ENSG00000152620 ENSG00000152620 HGNC:26404 NAGA gene NAGA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Schindler disease, type I, 609241;seizures 8071745;11313741;8782044 False 3 67;33;0 8.355 False ENSG00000198951 ENSG00000198951 HGNC:7631 NAGA gene NAGA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Kanzaki disease False 3 0;0;0 8.355 False ENSG00000198951 ENSG00000198951 HGNC:7631 NAGLU gene NAGLU London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type III;Mucopolysaccharidosis, Type III;Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920;MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses);MUCOPOLYSACCHARIDOSIS TYPE 3B;Mucopolysaccharidosis Type IIIB 27604308 False 3 0;0;0 8.355 False ENSG00000108784 ENSG00000108784 HGNC:7632 NAGS gene NAGS London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal N-Acetylglutamate synthetase deficiency (Urea cycle disorders and inherited hyperammonaemias);N-acetylglutamate synthase deficiency 27604308 False 3 0;0;0 8.355 False ENSG00000161653 ENSG00000161653 HGNC:17996 NAPB gene NAPB Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 107, OMIM:620033 28097321;33189936;26235277;21040848 False 3 100;0;0 8.355 False ENSG00000125814 ENSG00000125814 HGNC:15751 NARS gene NARS Expert Review Green;Literature Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091;Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092 32738225;32788587 False 3 100;0;0 8.355 False ENSG00000134440 ENSG00000134440 HGNC:7643 NARS2 gene NARS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 24, 616239;seizures 25385316;25629079;28077841;25807530 False 3 67;33;0 8.355 False ENSG00000137513 ENSG00000137513 HGNC:26274 NARS2 gene NARS2 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 24 25629079;25807530;25385316 False 3 100;0;0 8.355 False ENSG00000137513 ENSG00000137513 HGNC:26274 NAXD gene NAXD Expert Review Green;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321 30576410;33224489;31755961 False 3 100;0;0 8.355 False ENSG00000213995 ENSG00000213995 HGNC:25576 NAXE gene NAXE Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 27616477;27290639;27122014 False 3 100;0;0 8.355 False ENSG00000163382 ENSG00000163382 HGNC:18453 NBEA gene NBEA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert list Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Seizures;No OMIM number 30269351;28554332;12746398;12826745;11450821;3377648;23277425;22109531;23153818 False 3 67;33;0 8.355 False ENSG00000172915 ENSG00000172915 HGNC:7648 NDE1 gene NDE1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Lissencephaly 4 (with microcephaly), 614019 21529752;21529751;22526350 False 3 67;33;0 8.355 False ENSG00000072864 ENSG00000072864 HGNC:17619 NDUFA1 gene NDUFA1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308;28247337;17262856;19185523;21596602 False 3 100;0;0 8.355 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA1 gene NDUFA1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mitochondrial complex I deficiency, 252010 17262856;19185523;29272804 False 3 67;33;0 8.355 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Isolated complex I deficiency;Leigh syndrome, 256000;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA10 gene NDUFA10 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, 256000 21150889;26741492;28247337 False 3 67;33;0 8.355 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA11 gene NDUFA11 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA12 gene NDUFA12 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 21617257;33715266;35141356 False 3 67;0;33 8.355 False ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA13 gene NDUFA13 Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 28, OMIM:618249 25901006;32722639 False 3 75;0;25 8.355 False ENSG00000186010 ENSG00000186010 HGNC:17194 NDUFA2 gene NDUFA2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency, 256000;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFA4 gene NDUFA4 Expert Review Green;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Isolated complex IV deficiency;No OMIM phenotype 23746447;29636225 False 3 50;50;0 8.355 False ENSG00000189043 ENSG00000189043 HGNC:7687 NDUFA6 gene NDUFA6 Expert Review Green;Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253 30245030 False 3 0;100;0 8.355 False ENSG00000184983 ENSG00000184983 HGNC:7690 NDUFA8 gene NDUFA8 Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272 15576045;33153867;32385911 False 3 67;33;0 8.355 False ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFA9 gene NDUFA9 Expert Review Green;Expert Review Green;NHS GMS;London North GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3;Isolated complex I deficiency;Mitochondrial complex I deficiency, nuclear type 26, 618247;Leigh syndrome due to mitochondrial complex I deficiency, 256000 28671271;22114105 False 3 33;33;33 8.355 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF1 gene NDUFAF1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF2 gene NDUFAF2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Isolated complex I deficiency;Leigh syndrome, 256000;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF2 gene NDUFAF2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010 18180188;26795593;22644603 False 3 67;33;0 8.355 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFAF5 gene NDUFAF5 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex 1 deficiency 252010 18940309;19542079;21607760;29581464;30473481 False 3 67;33;0 8.355 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF5 gene NDUFAF5 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex 1 deficiency, 252010;Mitochondrial Diseases;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Isolated complex I deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF6 gene NDUFAF6 London North GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency, 256000;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Isolated complex I deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFAF8 gene NDUFAF8 Expert Review Green;Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 27499296 False 3 0;0;0 8.355 False ENSG00000224877 ENSG00000224877 HGNC:33551 NDUFB10 gene NDUFB10 Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 28040730;32025618;33169436 False 3 50;50;0 8.355 False ENSG00000140990 ENSG00000140990 HGNC:7696 NDUFB11 gene NDUFB11 Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Linear skin defects with multiple congenital anomalies 3;microphthalmia with linear skin defects syndrome;histiocytoid cardiomyopathy;Isolated complex I deficiency False 3 100;0;0 8.355 False ENSG00000147123 ENSG00000147123 HGNC:20372 NDUFB3 gene NDUFB3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 27604308 False 3 100;0;0 8.355 False ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFB8 gene NDUFB8 Expert Review Green;Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 32, 618252;No OMIM phenotype;Isolated complex I deficiency 27290639;29429571 False 3 0;100;0 8.355 False ENSG00000166136 ENSG00000166136 HGNC:7703 NDUFC2 gene NDUFC2 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170 32969598 False 3 50;50;0 8.355 False ENSG00000151366 ENSG00000151366 HGNC:7706 NDUFS1 gene NDUFS1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS4 gene NDUFS4 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, 256000;Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS4 gene NDUFS4 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 256000;Mitochondrial complex I deficiency 252010 28371352;27671926;27079373;19107570;9463323;11181577 False 3 67;33;0 8.355 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS6 gene NDUFS6 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Isolated complex I deficiency;Complex I, mitochondrial respiratory chain, deficiency of, 252010;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Isolated complex I deficiency;Leigh syndrome, 256000;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 2, 618222;Leigh syndrome due to mitochondrial complex I deficiency 15159508;22499348;9837812 False 3 50;50;0 8.355 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFS8 gene NDUFS8 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency, 256000;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000167792 ENSG00000167792 HGNC:7716 NDUFV1 gene NDUFV1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 11349233;10080174;30090137;29976978;29948731;20153825;25615419;23266820 False 3 50;50;0 8.355 False ENSG00000167792 ENSG00000167792 HGNC:7716 NDUFV2 gene NDUFV2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) 27604308 False 3 100;0;0 8.355 False ENSG00000178127 ENSG00000178127 HGNC:7717 NEDD4L gene NEDD4L Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Periventricular nodular heterotopia 7, OMIM:617201;periventricular nodular heterotopia 7, MONDO:0014966 28515470;23934111;28212375;27694961;32117442 False 3 60;40;0 8.355 False ENSG00000049759 ENSG00000049759 HGNC:7728 NEU1 gene NEU1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Sialidosis type II;Sialidosis, type I;Sialidosis (Oligosaccharidoses);Mucolipidosis, Type I;Sialidosis 27604308 False 3 0;0;0 8.355 False ENSG00000204386 ENSG00000204386 HGNC:7758 NEUROD2 gene NEUROD2 NHS GMS;Expert Review Green;Expert list Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 72, OMIM:618374 16504944;30323019;33438828 False 3 100;0;0 8.355 False ENSG00000171532 ENSG00000171532 HGNC:7763 NEXMIF gene NEXMIF Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked 98, 300912 23615299;27358180 False 3 83;17;0 8.355 False ENSG00000050030 ENSG00000050030 HGNC:29433 NFS1 gene NFS1 Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 52, OMIM:619386 24498631;33457206 False 3 60;0;40 8.355 False ENSG00000244005 ENSG00000244005 HGNC:15910 NFU1 gene NFU1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711;Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.355 False ENSG00000169599 ENSG00000169599 HGNC:16287 NGLY1 gene NGLY1 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal OrphaNet: ORPHA404454;Congenital disorder of deglycosylation 615273;Alacrimia-choreoathetosis-liver dysfunction syndrome;OMIM:615273 25220016;26350515;25900930;24651605;25605922;22581936;25707956 False 3 0;0;0 8.355 False ENSG00000151092 ENSG00000151092 HGNC:17646 NGLY1 gene NGLY1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation 615273 22581936;24651605 False 3 67;33;0 8.355 False ENSG00000151092 ENSG00000151092 HGNC:17646 NHLRC1 gene NHLRC1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora) 27604308 False 3 0;0;0 8.355 False ENSG00000187566 ENSG00000187566 HGNC:21576 NHLRC1 gene NHLRC1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Emory Genetics Laboratory Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora) 254780 12958597 False 3 29;14;57 8.355 False ENSG00000187566 ENSG00000187566 HGNC:21576 NNT gene NNT Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 27129361;28546232 False 3 100;0;0 8.355 False ENSG00000112992 ENSG00000112992 HGNC:7863 NPC1 gene NPC1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C1 27604308 False 3 0;0;0 8.355 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease type C2, 607625 27604308 False 3 0;0;0 8.355 False ENSG00000119655 ENSG00000119655 HGNC:14537 NPRL2 gene NPRL2 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial focal, with variable foci 2, OMIM:617116 26505888;27173016;30093711;34965576 False 3 50;50;0 8.355 False ENSG00000114388 ENSG00000114388 HGNC:24969 NPRL3 gene NPRL3 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial focal, with variable foci 3, 617118 26505888;26285051;27173016;34965576 False 3 67;33;0 8.355 False ENSG00000103148 ENSG00000103148 HGNC:14124 NR4A2 gene NR4A2 Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, OMIM:619911 32366965;31428396 False 3 100;0;0 8.355 False ENSG00000153234 ENSG00000153234 HGNC:7981 NRROS gene NRROS Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Seizures, early-onset, with neurodegeneration and brain calcification 618875 32100099;32197075;28459434 False 3 100;0;0 8.355 False ENSG00000174004 ENSG00000174004 HGNC:24613 NRXN1 gene NRXN1 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pitt-Hopkins-like syndrome 2, OMIM:614325 (AR);Complex neurodevelopmental disorder (AD) 21964664;19896112;30031152;23533028;22617343 False 3 25;25;50 8.355 True ENSG00000179915 ENSG00000179915 HGNC:8008 NSD1 gene NSD1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sotos syndrome 1, 117550 15942875 False 3 67;33;0 8.355 False ENSG00000165671 ENSG00000165671 HGNC:14234 NSDHL gene NSDHL Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females CK syndrome 300831 19377476;19842190;25900314 False 3 67;33;0 8.355 False ENSG00000147383 ENSG00000147383 HGNC:13398 NSDHL gene NSDHL London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis);CHILD syndrome 308050 XLD;CK syndrome 300831 XLR 27604308 False 3 0;0;0 8.355 False ENSG00000147383 ENSG00000147383 HGNC:13398 NSRP1 gene NSRP1 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal NSRP1-associated developmental delay, epilepsy and microcephaly 34385670 False 3 100;0;0 8.355 False ENSG00000126653 ENSG00000126653 HGNC:25305 NSUN3 gene NSUN3 Expert Review Green;NHS GMS;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 48, OMIM:619012 27356879;32488845 False 3 100;0;0 8.355 False ENSG00000178694 ENSG00000178694 HGNC:26208 NT5C3A gene NT5C3A London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Anemia, hemolytic, due to UMPH1 deficiency, 266120;Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000122643 ENSG00000122643 HGNC:17820 NTRK2 gene NTRK2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 58 (MIM 617830);Obesity, hyperphagia, and developmental delay (MIM 613886) 29100083;15494731 False 3 67;33;0 8.355 False ENSG00000148053 ENSG00000148053 HGNC:8032 NUBPL gene NUBPL London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000151413 ENSG00000151413 HGNC:20278 NUP214 gene NUP214 Expert Review Green;NHS GMS;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426;encephalopathy, acute, infection-induced, susceptibility to, 9, MONDO:0032742 31178128;30758658 False 3 100;0;0 8.355 False ENSG00000126883 ENSG00000126883 HGNC:8064 NUS1 gene NUS1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mental retardation, autosomal dominant 55, with seizures, OMIM:617831;Congenital disorder of glycosylation, type 1aa, OMIM:617082 25066056;29100083;24824130;30348779;31656175 False 3 33;67;0 8.355 False ENSG00000153989 ENSG00000153989 HGNC:21042 OAT gene OAT London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ornithine aminotransferase deficiency (Disorders of ornithine or proline metabolism);Gyrate atrophy of choroid and retina with or without ornithinemia 27604308 False 3 0;0;0 8.355 False ENSG00000065154 ENSG00000065154 HGNC:8091 OCLN gene OCLN Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 1 251290 20727516 False 3 67;33;0 8.355 False ENSG00000197822 ENSG00000197822 HGNC:8104 OCRL gene OCRL Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Dent disease 2, OMIM:300555;Lowe syndrome, OMIM:309000 27604308;8504307;9632163;9632163;15627218;27625797;33517444 False 3 0;0;0 8.355 False ENSG00000122126 ENSG00000122126 HGNC:8108 OGDH gene OGDH Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740;oxoglutaricaciduria, MONDO:0008759 27604308;32383294;36520152 False 3 60;0;40 8.355 False ENSG00000105953 ENSG00000105953 HGNC:8124 OGDHL gene OGDHL NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Yoon-Bellen neurodevelopmental syndrome, OMIM:619701 28017472;34800363 False 3 100;0;0 8.355 False ENSG00000197444 ENSG00000197444 HGNC:25590 OPA1 gene OPA1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Optic atrophy 1, OMIM:165500;Optic atrophy plus syndrome, OMIM:125250;Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896;Behr syndrome, OMIM:210000 27604308;28494813;27150940;24970096;11017079;11017080;17722006;25012220 False 3 100;0;0 8.355 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias);3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300 27604308 False 3 100;0;0 8.355 False ENSG00000125741 ENSG00000125741 HGNC:8142 OPHN1 gene OPHN1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 300486;MENTAL RETARDATION X-LINKED OPHN1-RELATED 9582072;9582072;16221952;16221952;29510240 False 3 67;33;0 8.355 False ENSG00000079482 ENSG00000079482 HGNC:8148 OTC gene OTC London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Ornithine transcarbamylase deficiency, 311250;Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias) 27604308 False 3 0;0;0 8.355 False ENSG00000036473 ENSG00000036473 HGNC:8512 OTUD6B gene OTUD6B Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 617452 28343629 False 3 67;33;0 8.355 False ENSG00000155100 ENSG00000155100 HGNC:24281 OTUD7A gene OTUD7A Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal developmental and epileptic encephalopathy, MONDO:0100062 31997314;29395075;29395074;33381903;36180924 False 3 75;0;25 8.355 False ENSG00000169918 ENSG00000169918 HGNC:20718 OXCT1 gene OXCT1 NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Succinyl CoA:3-oxoacid CoA transferase deficiency;severe ketosis on fasting often ketotic in fed state no hepatomegaly;Succinyl-CoA:3-Oxoacid-CoA transferase (SCOT) deficiency (Disorders of ketone body metabolism);Succinyl CoA:3-oxoacid CoA transferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 0;0;100 8.355 False ENSG00000083720 ENSG00000083720 HGNC:8527 OXR1 gene OXR1 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 213000 31785787;22028674 False 3 100;0;0 8.355 False ENSG00000164830 ENSG00000164830 HGNC:15822 P4HTM gene P4HTM Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493;Seizures;Intellectual disability;Global developmental delay 30940925 False 3 67;33;0 8.355 False ENSG00000178467 ENSG00000178467 HGNC:28858 PACS1 gene PACS1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schuurs-Hoeijmakers syndrome, 615009 28111752;26842493;23159249 False 3 75;25;0 8.355 False ENSG00000175115 ENSG00000175115 HGNC:30032 PACS2 gene PACS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 66, 618067 29656858;22488736;28867141 False 3 75;25;0 8.355 False ENSG00000179364 ENSG00000179364 HGNC:23794 PAFAH1B1 gene PAFAH1B1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 1, OMIM:607432;Subcortical laminar heterotopia, OMIM:607432 9760204;11115846;11502906;11754098;18285425;19667223;19050731;25140959 False 3 67;33;0 8.355 False ENSG00000007168 ENSG00000007168 HGNC:8574 PAH gene PAH Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Phenylketonuria 261600 27830119;29560316;29025426;29899773;29579554 False 3 33;67;0 8.355 False ENSG00000171759 ENSG00000171759 HGNC:8582 PAH gene PAH London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Phenylketonuria 27604308;24816252 False 3 0;0;0 8.355 False ENSG00000171759 ENSG00000171759 HGNC:8582 PAK1 gene PAK1 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)" 30290153;doi.org/10.1093/brain/awz264 False 3 67;33;0 8.355 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000149269 ENSG00000149269 HGNC:8590 PANK2 gene PANK2 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal HARP syndrome 607236;Neurodegeneration with brain iron accumulation 234200 27604308;11479594;12510040;12058097;14638969;16240131 False 3 100;0;0 8.355 False ENSG00000125779 ENSG00000125779 HGNC:15894 PARS2 gene PARS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Other Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 75, 618437 22237560;25629079;27290639;29410512;29410512;29915213 False 3 67;33;0 8.355 False ENSG00000162396 ENSG00000162396 HGNC:30563 PARS2 gene PARS2 Expert Review Green;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Epileptic encephalopathy, early infantile, 75, 618437Alpers syndrome.;Epileptic encephalopathy, early infantile, 75, 618437;Alpers syndrome 28077841;25629079;29410512;29915213 False 3 100;0;0 8.355 False ENSG00000162396 ENSG00000162396 HGNC:30563 PC gene PC London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pyruvate carboxylase deficiency, OMIM:266150 27604308 False 3 100;0;0 8.355 False ENSG00000173599 ENSG00000173599 HGNC:8636 PCBD1 gene PCBD1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, D 27604308 False 3 0;0;0 8.355 False ENSG00000166228 ENSG00000166228 HGNC:8646 PCCA gene PCCA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Propionicacidemia 606054 2213454;25875215;30014764;22593918 False 3 67;33;0 8.355 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCA gene PCCA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Propionicacidemia;Propionic acidemia;Propionicacidemia 606054;metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections;Propionic aciduria (Organic acidurias) 27604308 False 3 0;0;0 8.355 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections);Propionic acidemia;Propionicacidemia 606054;Propionicacidemia;Propionic aciduria (Organic acidurias) 27604308 False 3 0;0;0 8.355 False ENSG00000114054 ENSG00000114054 HGNC:8654 PCCB gene PCCB Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Propionicacidemia 606054 22593918;30014764 False 3 67;33;0 8.355 False ENSG00000114054 ENSG00000114054 HGNC:8654 PCDH12 gene PCDH12 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Microcephaly, seizures, spasticity, and brain calcification 251280 27164683;29556033;28804758 False 3 40;20;40 8.355 False ENSG00000113555 ENSG00000113555 HGNC:8657 PCDH19 gene PCDH19 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Radboud University Medical Center, Nijmegen;Expert;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Epileptic encephalopathy, early infantile, 9 Hynes et al (2010) J Med Genet 47: 211-216 False 3 83;17;0 8.355 False ENSG00000165194 ENSG00000165194 HGNC:14270 PCDHGC4 gene PCDHGC4 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880 34244665 False 3 100;0;0 8.355 False ENSG00000242419 ENSG00000242419 HGNC:8717 PCK1 gene PCK1 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic 261680 27604308;24863970;26971250;28216384 False 3 0;0;0 8.355 False ENSG00000124253 ENSG00000124253 HGNC:8724 PCSK9 gene PCSK9 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolemia, familial, 3 603776;{Low density lipoprotein cholesterol level QTL 1} 603776 27604308;12730697;14727179;15772090;15654334;16909389 False 3 0;0;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000169174 ENSG00000169174 HGNC:20001 PCYT2 gene PCYT2 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Global developmental delay;Developmental regression;Intellectual disability;Spastic paraparesis;Seizures;Cerebral atrophy;Cerebellar atrophy;Spastic paraplegia 82, autosomal recessive, 618770 31637422 False 3 100;0;0 8.355 False ENSG00000185813 ENSG00000185813 HGNC:8756 PDHA1 gene PDHA1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pyruvate dehydrogenase E1-alpha deficiency 312170;X-LINKED LEIGH SYNDROME;PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES;INTELLECTUAL DISABILTIY 8664900;10679936 False 3 67;33;0 8.355 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHA1 gene PDHA1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism);Leigh syndrome, X-linked, 308930;Pyruvate dehydrogenase E1-alpha deficiency, 312170 27604308 False 3 100;0;0 8.355 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHB gene PDHB London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111 27604308 False 3 100;0;0 8.355 False ENSG00000168291 ENSG00000168291 HGNC:8808 PDHX gene PDHX London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Lacticacidemia due to PDX1 deficiency, OMIM:245349 27604308 False 3 100;0;0 8.355 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDHX gene PDHX Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Lacticacidemia due to PDX1 deficiency, OMIM:245349 11935326;16904023;25087164 False 3 67;33;0 8.355 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDK3 gene PDK3 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905 23297365;26801680;27388934;28902413;32504000;34387338 False 3 50;25;25 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000067992 ENSG00000067992 HGNC:8811 PDP1 gene PDP1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency, 608782;Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000164951 ENSG00000164951 HGNC:9279 PDSS1 gene PDSS1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 2, 614651;Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of ubiquinone metabolism and biosynthesis 27604308 False 3 100;0;0 8.355 False ENSG00000148459 ENSG00000148459 HGNC:17759 PDSS2 gene PDSS2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 3, 614652;Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of ubiquinone metabolism and biosynthesis 27604308 False 3 100;0;0 8.355 False ENSG00000164494 ENSG00000164494 HGNC:23041 PEPD gene PEPD Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Prolidase deficiency 170100 27604308;2365824;2365824;8198124;15309682;16470701 False 3 0;0;0 8.355 False ENSG00000124299 ENSG00000124299 HGNC:8840 PET100 gene PET100 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110;seizures 24462369;23829769 False 3 67;33;0 8.355 False ENSG00000229833 ENSG00000229833 HGNC:40038 PET100 gene PET100 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome;Mitochondrial complex IV deficiency, 220110;Isolated complex IV deficiency 24462369 False 3 100;0;0 8.355 False ENSG00000229833 ENSG00000229833 HGNC:40038 PEX1 gene PEX1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 1B (NALD/IRD) 601539;Peroxisome biogenesis disorder 1A (Zellweger) 214100 27604308 False 3 0;0;0 8.355 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 6A (Zellweger) 614870;Peroxisome biogenesis disorder 6B 614871 27604308 False 3 0;0;0 8.355 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B False 3 0;0;0 8.355 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 3A (Zellweger), 614859;Peroxisome biogenesis disorder 3B 27604308 False 3 0;0;0 8.355 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 11A (Zellweger) 27604308 False 3 0;0;0 8.355 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 13A (Zellweger) 27604308 False 3 0;0;0 8.355 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum;Peroxisome biogenesis disorder 8A, (Zellweger), 614876;Peroxisomal biogenesis disorders;Zellweger Syndrome 27604308 False 3 0;0;0 8.355 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 12A (Zellweger) 27604308 False 3 0;0;0 8.355 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 5A (Zellweger), 614866;Peroxisome biogenesis disorder 5B, 614867 27604308 False 3 0;0;0 8.355 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 7A (Zellweger) 61487;Peroxisome biogenesis disorder 7B 614873 27604308 False 3 0;0;0 8.355 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 10A (Zellweger) 614882 27604308 False 3 0;0;0 8.355 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 2A (Zellweger) 27604308 False 3 0;0;0 8.355 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) OMIM:614862;peroxisome biogenesis disorder 4A (Zellweger) MONDO:0013930;Peroxisome biogenesis disorder 4B OMIM:614863;peroxisome biogenesis disorder 4B MONDO:0013931 27604308;29220678;20301621 False 3 100;0;0 8.355 False Other ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 9B 614879;Rhizomelic chondrodysplasia punctata, type 1;Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders) 27604308 False 3 0;0;0 8.355 False ENSG00000112357 ENSG00000112357 HGNC:8860 PFKM gene PFKM London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII 27604308 False 3 100;0;0 8.355 False ENSG00000152556 ENSG00000152556 HGNC:8877 PGAM2 gene PGAM2 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease X 261670 27604308;28779239 False 3 100;0;0 8.355 False ENSG00000164708 ENSG00000164708 HGNC:8889 PGAP2 gene PGAP2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 3 614207;PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 27604308 False 3 0;0;0 8.355 False ENSG00000148985 ENSG00000148985 HGNC:17893 PGAP3 gene PGAP3 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 4 24439110 False 3 0;0;0 8.355 False ENSG00000161395 ENSG00000161395 HGNC:23719 PGK1 gene PGK1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphoglycerate kinase 1 deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000102144 ENSG00000102144 HGNC:8896 PGM1 gene PGM1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Congenital disorder of deglycosylation 615273;Glycogen storage disease type XIV (Glycogen storage disorders);Congenital disorder of glycosylation, type It, 614921;Glycogen Storage Disorders- Muscle;Glycogen Storage Disease Type XIV;Glycogen storage disease XIV, 612934 27206562 False 3 100;0;0 8.355 False ENSG00000079739 ENSG00000079739 HGNC:8905 PGM2L1 gene PGM2L1 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 33979636 False 3 100;0;0 8.355 False ENSG00000165434 ENSG00000165434 HGNC:20898 PGM3 gene PGM3 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23 24698316 False 3 0;0;0 8.355 False ENSG00000013375 ENSG00000013375 HGNC:8907 PHACTR1 gene PHACTR1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 70, OMIM:618298 30256902;23033978;28135719 False 3 67;33;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000112137 ENSG00000112137 HGNC:20990 PHGDH gene PHGDH Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Phosphoglycerate dehydrogenase deficiency 601815 11055895;19235232 False 3 67;33;0 8.355 False ENSG00000092621 ENSG00000092621 HGNC:8923 PHGDH gene PHGDH Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 1 256520;Phosphoglycerate dehydrogenase deficiency 601815 27604308;24816252;11055895;11034457;19235232;24836451;25152457 False 3 0;0;0 8.355 False ENSG00000092621 ENSG00000092621 HGNC:8923 PHKA1 gene PHKA1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Muscle glycogenosis, 300559 27604308 False 3 100;0;0 8.355 False ENSG00000067177 ENSG00000067177 HGNC:8925 PHKA2 gene PHKA2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Glycogen Storage Disease;Glycogen Storage Disorders- Liver;Glycogen storage disease, type IXa2, 306000;Glycogen storage disease, type IXa1, 306000;hepatomegaly and mild hypoglycaemia;Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders) 27604308 False 3 0;0;0 8.355 False ENSG00000044446 ENSG00000044446 HGNC:8926 PHKB gene PHKB London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal hepatomegaly and variable myopathy;Glycogen Storage Disorders- Liver;Glycogen Storage Disorders- Muscle;Glycogen Storage Disease;Glycogen storage disease type IX Hepatic and muscle phosphorylase kinase deficiency (Glycogen storage disorders) 27604308 False 3 100;0;0 8.355 False ENSG00000102893 ENSG00000102893 HGNC:8927 PHKG2 gene PHKG2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal hepatomegaly and variable myopathy;Glycogen Storage Disorders- Liver;Glycogen Storage Disease;Glycogen storage disease IXc, 613027;Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders);Cirrhosis due to liver phosphorylase kinase deficiency 27604308 False 3 0;0;0 8.355 False ENSG00000156873 ENSG00000156873 HGNC:8931 PHYH gene PHYH London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Refsum disease, 266500;Refsum disease (Disorders of peroxisomal alpha-, beta and omega-oxidation) 27604308 False 3 0;0;0 8.355 False ENSG00000107537 ENSG00000107537 HGNC:8940 PIDD1 gene PIDD1 NHS GMS;Expert Review Green;Other;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Global developmental delay;Intellectual disability;Seizures;Autism;Behavioral abnormality;Psychosis;Pachygyria;Lissencephaly;Abnormality of the corpus callosum 28397838;29302074;33414379;34163010 False 3 100;0;0 8.355 False ENSG00000177595 ENSG00000177595 HGNC:16491 PIGA gene PIGA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868;PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 27604308 False 3 0;0;0 8.355 False ENSG00000165195 ENSG00000165195 HGNC:8957 PIGA gene PIGA Expert Review Green;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 22305531;25885527;29656098 False 3 86;14;0 8.355 True ENSG00000165195 ENSG00000165195 HGNC:8957 PIGB gene PIGB Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 80, OMIM:618580 31256876 False 3 67;33;0 8.355 False ENSG00000069943 ENSG00000069943 HGNC:8959 PIGC gene PIGC Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 16, OMIM:617816 27694521;32707268 False 3 50;50;0 8.355 True ENSG00000135845 ENSG00000135845 HGNC:8960 PIGG gene PIGG Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 53 616917 26996948;28581210 False 3 67;33;0 8.355 False ENSG00000174227 ENSG00000174227 HGNC:25985 PIGH gene PIGH Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 17, 618010;epilepsy;febrile seizures 29603516;29573052;33156547 False 3 50;25;25 8.355 True ENSG00000100564 ENSG00000100564 HGNC:8964 PIGK gene PIGK Expert Review Green;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures OMIM:618879 32220290 False 3 100;0;0 8.355 False ENSG00000142892 ENSG00000142892 HGNC:8965 PIGL gene PIGL London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);CHIME syndrome 280000 22444671 False 3 0;0;0 8.355 False ENSG00000108474 ENSG00000108474 HGNC:8966 PIGN gene PIGN Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080 26419326;27038415;26394714 False 3 67;33;0 8.355 False ENSG00000197563 ENSG00000197563 HGNC:8967 PIGN gene PIGN London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);Multiple congenital anomalies-hypotonia-seizures syndrome 1 26419326;21493957 False 3 0;0;0 8.355 False ENSG00000197563 ENSG00000197563 HGNC:8967 PIGO gene PIGO Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 2, 614749 22683086;24049131;24417746;28900819;28337824 False 3 67;33;0 8.355 False ENSG00000165282 ENSG00000165282 HGNC:23215 PIGO gene PIGO London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);(Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);Hyperphosphatasia with mental retardation syndrome 2 614749 27604308 False 3 0;0;0 8.355 False ENSG00000165282 ENSG00000165282 HGNC:23215 PIGP gene PIGP Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 55, OMIM:617599 28334793;31139695;32042915 False 3 100;0;0 8.355 False ENSG00000185808 ENSG00000185808 HGNC:3046 PIGQ gene PIGQ Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome-4, OMIM:618548 32588908;24463883;25558065;31148362 False 3 22;22;56 8.355 False ENSG00000007541 ENSG00000007541 HGNC:14135 PIGS gene PIGS Expert Review Green;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 18 618143 30269814 False 3 100;0;0 8.355 False ENSG00000087111 ENSG00000087111 HGNC:14937 PIGT gene PIGT Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Literature;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 3 False 3 67;33;0 8.355 False ENSG00000124155 ENSG00000124155 HGNC:14938 PIGT gene PIGT Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 3 23636107;28327575 False 3 100;0;0 8.355 False ENSG00000124155 ENSG00000124155 HGNC:14938 PIGU gene PIGU Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590 31353022 False 3 100;0;0 8.355 True ENSG00000101464 ENSG00000101464 HGNC:15791 PIGV gene PIGV London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);Hyperphosphatasia with mental retardation syndrome 1 239300;(Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 20802478;24129430 False 3 0;0;0 8.355 False ENSG00000060642 ENSG00000060642 HGNC:26031 PIGW gene PIGW Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 11, 616025;HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 24367057;27626616;30078644 False 3 50;50;0 8.355 False ENSG00000184886 ENSG00000277161 HGNC:23213 PIK3R2 gene PIK3R2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 28502725;23745724;22729224 False 3 50;50;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000105647 ENSG00000105647 HGNC:8980 PINK1 gene PINK1 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Parkinson disease 6, early onset 605909 27604308;15087508;16207731;18003639;18524835 False 3 0;0;0 8.355 False ENSG00000158828 ENSG00000158828 HGNC:14581 PLA2G6 gene PLA2G6 Expert list;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Infantile neuroaxonal dystrophy 1 27604308;18570303;16783378;18799783 False 3 0;0;100 8.355 False ENSG00000184381 ENSG00000184381 HGNC:9039 PLAA gene PLAA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 617527;Lethal Infantile Epileptic Encephalopathy 28007986;28413018 False 3 67;33;0 8.355 False ENSG00000137055 ENSG00000137055 HGNC:9043 PLCB1 gene PLCB1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Early Infantile Epileptic Encephalopathy, Autosomal Recessive;Epileptic encephalopathy, early infantile, 12 Kurian et al (2010) Brain 133: 2964_2970 False 3 83;17;0 8.355 False ENSG00000182621 ENSG00000182621 HGNC:15917 PLK1 gene PLK1 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal developmental and epileptic encephalopathy, MONDO:0100062 33875846 False 3 100;0;0 8.355 False ENSG00000166851 ENSG00000166851 HGNC:9077 PLPBP gene PLPBP Wessex and West Midlands GLH;NHS GMS;Literature;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, early-onset, vitamin B6-dependent, 617290 27912044 False 3 67;33;0 8.355 False ENSG00000147471 ENSG00000147471 HGNC:9457 PLXNA1 gene PLXNA1 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted developmental and epileptic encephalopathy, MONDO:0100062 28464511;34054129 False 3 100;0;0 8.355 False ENSG00000114554 ENSG00000114554 HGNC:9099 PMM2 gene PMM2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 26453362;28954837 False 3 67;33;0 8.355 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMM2 gene PMM2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Ia 212065 11875054;11058895;11409861 False 3 0;0;0 8.355 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMPCA gene PMPCA Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal slowly progressive cerebellar ataxia;non-progressive cerebellar ataxia 26657514;25808372 False 3 100;0;0 8.355 False ENSG00000165688 ENSG00000165688 HGNC:18667 PMPCB gene PMPCB Expert Review Green;Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954;multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 29576218 False 3 0;0;0 8.355 False ENSG00000105819 ENSG00000105819 HGNC:9119 PMPCB gene PMPCB NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954;multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 29576218 False 3 100;0;0 8.355 False ENSG00000105819 ENSG00000105819 HGNC:9119 PNKP gene PNKP Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Early infantile epileptic encephalopathy type 10;Ataxia-oculomotor apraxia 4;Microcephaly, seizures, and developmental delay Shen et al (2010) Nature Genet 42(3): 245-251 False 3 83;17;0 8.355 False ENSG00000039650 ENSG00000039650 HGNC:9154 PNP gene PNP Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179 27604308;3029074;1384322;9067751;8931706;9737781;11453975 False 3 0;0;0 8.355 False ENSG00000198805 ENSG00000198805 HGNC:7892 PNPLA2 gene PNPLA2 Expert Review Green;NHS GMS;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neutral lipid storage disease with myopathy MIM#610717 18952067;21544567;25287355;25956450;32269696 False 3 100;0;0 8.355 False ENSG00000177666 ENSG00000177666 HGNC:30802 PNPLA8 gene PNPLA8 Expert Review Green;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial myopathy with lactic acidosis, 251950 25473036;25512002;29681094 False 3 100;0;0 8.355 False ENSG00000135241 ENSG00000135241 HGNC:28900 PNPO gene PNPO London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism) 27604308 False 3 0;0;0 8.355 False ENSG00000108439 ENSG00000108439 HGNC:30260 PNPO gene PNPO Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pyridoxamine 5'-phosphate oxidase deficiency, 610090 24658933;28818555;22196487;21704546;25296925;26535729;15772097;24266778;36106796 False 3 29;14;57 8.355 False ENSG00000108439 ENSG00000108439 HGNC:30260 PNPT1 gene PNPT1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 13, OMIM:614932;Deafness, autosomal recessive 70, OMIM:614934;Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 27604308 False 3 100;0;0 8.355 False ENSG00000138035 ENSG00000138035 HGNC:23166 PNPT1 gene PNPT1 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 13, OMIM:614932;Combined oxidative phosphorylation defect type 13, MONDO:0013977 31752325 False 3 100;0;0 8.355 False ENSG00000138035 ENSG00000138035 HGNC:23166 POLG gene POLG Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type);Mitochondrial DNA depletion syndrome 4B (MNGIE type);Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Naviaux & Nguyen (2004) Ann Neurol 55: 706-712;Goethem et al (2003) Eur J Hum Genet 11: 547-549;Goethen et al (2004) Neurology 63: 1251-1257 False 3 86;14;0 8.355 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG gene POLG London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia, autosomal dominant, 157640;Progressive external ophthalmoplegia, autosomal recessive, 258450;Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662;Mitochondrial DNA depletion syndrome 4A (Alpers type);Mitochondrial DNA Depletion Syndrome;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 27604308 False 3 100;0;0 8.355 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 London North GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528;Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 16685652;21555342;27592148;30157269;31778857 False 3 100;0;0 8.355 False ENSG00000256525 ENSG00000256525 HGNC:9180 POMGNT1 gene POMGNT1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280 24282183;15236414;17878207 False 3 67;33;0 8.355 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT1 gene POMGNT1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157;Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Retinitis pigmentosa 76 617123 27421908 False 3 0;0;0 8.355 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 27066570 False 3 0;0;0 8.355 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Green;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094;limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249;muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101 23519211;24556084;24925318;29910097 False 3 100;0;0 8.355 False ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 19299310 False 3 67;33;0 8.355 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT1 gene POMT1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308;Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 27604308 False 3 0;0;0 8.355 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158;Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 27421908 False 3 0;0;0 8.355 False ENSG00000009830 ENSG00000009830 HGNC:19743 POR gene POR Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750;Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 27604308;14758361;15793702;15220035;15483095;16470797 False 3 0;0;0 8.355 False ENSG00000127948 ENSG00000127948 HGNC:9208 PPA2 gene PPA2 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Sudden cardiac failure, infantile, 617222;Sudden cardiac failure, alcohol-induced, 617223 27523598 False 3 100;0;0 8.355 False ENSG00000138777 ENSG00000138777 HGNC:28883 PPFIBP1 gene PPFIBP1 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 35830857;30214071 False 3 100;0;0 8.355 False ENSG00000110841 ENSG00000110841 HGNC:9249 PPIL1 gene PPIL1 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly 33220177 False 3 100;0;0 8.355 False ENSG00000137168 ENSG00000137168 HGNC:9260 PPOX gene PPOX NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Porphyria variegata 176200;Variegate porphyria (Acute neuropathic porphyrias) 27604308;19460837;9811936 False 3 50;0;50 8.355 False ENSG00000143224 ENSG00000143224 HGNC:9280 PPP2CA gene PPP2CA Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Abnormality of nervous system morphology;Seizures;Language impairment;Muscular hypotonia;Feeding difficulties;Intellectual disability;Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354;Global developmental delay 29274472;30030003;30595372 False 3 67;33;0 8.355 False ENSG00000113575 ENSG00000113575 HGNC:9299 PPP3CA gene PPP3CA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, infantile or early childhood, 1 617711 28942967;30254215;30455226;29432562 False 3 67;33;0 8.355 False ENSG00000138814 ENSG00000138814 HGNC:9314 PPT1 gene PPT1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1 256730 7637805;9425237;9664077 False 3 29;14;57 8.355 False ENSG00000131238 ENSG00000131238 HGNC:9325 PPT1 gene PPT1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1 27604308 False 3 0;0;0 8.355 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRICKLE1 gene PRICKLE1 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1B, OMIM:612437 30564977;30345727;21276947;26727662;29790814;31875159;31035234;15634728;15642921;16376507;18976727;20301774 False 3 17;17;67 8.355 False ENSG00000139174 ENSG00000139174 HGNC:17019 PRKAG2 gene PRKAG2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic 6, 600858;Glycogen storage disease of heart, lethal congenital, 261740;Wolff-Parkinson-White syndrome, 194200 194200 False 3 100;0;0 8.355 False ENSG00000106617 ENSG00000106617 HGNC:9386 PRMT7 gene PRMT7 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 26437029;27718516 False 3 67;33;0 8.355 False ENSG00000132600 ENSG00000132600 HGNC:25557 PRODH gene PRODH Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type I, OMIM:239500;hyperprolinemia type 1, MONDO:0009400 27604308;24816252 False 3 100;0;0 8.355 False ENSG00000100033 ENSG00000100033 HGNC:9453 PRPF8 gene PRPF8 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PRPF8-related developmental disorder (monoallelic);Retinitis pigmentosa 13, OMIM:600059 20811066;23714367;30420816;31696658;35543142 False 3 67;33;0 8.355 False ENSG00000174231 ENSG00000174231 HGNC:17340 PRPS1 gene PRPS1 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Arts syndrome 301835;Charcot-Marie-Tooth disease, X-linked recessive, 5 311070;Deafness, X-linked 1 304500;Gout, PRPS-related 300661;Phosphoribosylpyrophosphate synthetase superactivity 300661 27604308 False 3 0;0;0 8.355 False ENSG00000147224 ENSG00000147224 HGNC:9462 PRRT2 gene PRRT2 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;UKGTN;Expert Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Convulsions, familial infantile, with paroxysmal choreoathetosis;Episodic kinesigenic dyskinesia 1;Seizures, benign familial infantile, 2;BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME Wan et al (2011) Brain 134: 3493_3501;Chen et al (2011) Nature Genet 43(12): 1252-1256;Heron et al (2012) Am J Hum Genet 90: 152_160 False 3 83;17;0 8.355 False ENSG00000167371 ENSG00000167371 HGNC:30500 PSAP gene PSAP London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Atypical Gaucher disease;Metachromatic leukodystrophy due to SAP-b deficiency, 249900;Combined SAP deficiency;Combined SAP deficiency, 611721;Prosaposin deficiency (Sphingolipidoses);Atypical Krabbe disease;Gaucher disease, atypical, 610539;Krabbe disease, atypical, 611722 27604308 False 3 0;0;0 8.355 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSAP gene PSAP Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined SAP deficiency 611721 8776585;8554069;10682309;2514102;1371116;11309366 False 3 67;33;0 8.355 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSAT1 gene PSAT1 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Phosphoserine aminotransferase deficiency 610992;Neu-Laxova syndrome 2 616038 27604308;25152457;26960553;17436247 False 3 0;0;0 8.355 False ENSG00000135069 ENSG00000135069 HGNC:19129 PTEN gene PTEN Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 1 158350;Lhermitte-Duclos syndrome;BANNAYAN-RILEY-RUVALCABA SYNDROME 9832032;29033429;29444762 False 3 75;25;0 8.355 True ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN23 gene PTPN23 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Rare severe autosomal-recessive developmental and epileptic encephalopathy;Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890 25558065;29899372;29090338 False 3 50;50;0 8.355 False ENSG00000076201 ENSG00000076201 HGNC:14406 PTS gene PTS Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism);Hyperphenylalaninemia, BH4-deficient, A 261640 27604308 False 3 0;0;0 8.355 False ENSG00000150787 ENSG00000150787 HGNC:9689 PTS gene PTS Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, A, 261640 11916314;16364672;9222757;9450907;8801112 False 3 33;67;0 8.355 True ENSG00000150787 ENSG00000150787 HGNC:9689 PUM1 gene PUM1 Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 47 617931 29474920;25768905;30903679;31859446 False 3 100;0;0 8.355 False ENSG00000134644 ENSG00000134644 HGNC:14957 PURA gene PURA Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 31;INTELLECTUAL DISABILITY PMID:25342064;Lalani (2014) False 3 83;17;0 8.355 False ENSG00000185129 ENSG00000185129 HGNC:9701 PUS1 gene PUS1 Expert Review Green;London North GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial myopathy and sideroblastic anemia 1, 600462 27604308 False 3 100;0;0 8.355 False ENSG00000177192 ENSG00000177192 HGNC:15508 PYCR1 gene PYCR1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIB, 612940;Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism);Cutis laxa, autosomal recessive, type IIIB, 614438 27604308 False 3 50;0;50 8.355 False ENSG00000183010 ENSG00000183010 HGNC:9721 PYGL gene PYGL London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Glycogen Storage Disorders- Liver;Glycogen storage disease VI, 232700;hepatomegaly and mild hypoglycaemia;Glycogen Storage Disease Type VI;Glycogen storage disease type VI, Hers (Glycogen storage disorders) 27604308 False 3 0;0;0 8.355 False ENSG00000100504 ENSG00000100504 HGNC:9725 PYGM gene PYGM London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease type V, McArdle (Glycogen storage disorders);McArdle disease 232600 27604308 False 3 100;0;0 8.355 False ENSG00000068976 ENSG00000068976 HGNC:9726 QARS gene QARS Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Zang et al (2014) AJHG 94, 547 558 False 3 83;17;0 8.355 False ENSG00000172053 ENSG00000172053 HGNC:9751 QDPR gene QDPR London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, C 27604308 False 3 0;0;0 8.355 False ENSG00000151552 ENSG00000151552 HGNC:9752 QRSL1 gene QRSL1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 40, OMIM:618835 26741492;29440775;30283131 False 3 100;0;0 8.355 False ENSG00000130348 ENSG00000130348 HGNC:21020 RAB11B gene RAB11B Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 29106825 False 3 67;33;0 8.355 False ENSG00000185236 ENSG00000185236 HGNC:9761 RAB18 gene RAB18 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 3, 614222 15216543;21473985 False 3 67;33;0 8.355 False ENSG00000099246 ENSG00000099246 HGNC:14244 RAC3 gene RAC3 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, OMIM:618577 29276006;30293988;35851598;35595279 False 3 100;0;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000169750 ENSG00000169750 HGNC:9803 RALA gene RALA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Seizures;Abnormality of nervous system morphology 30500825 False 3 67;33;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000006451 ENSG00000006451 HGNC:9839 RALGAPA1 gene RALGAPA1 Expert Review Green;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal .Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 618797 32004447 False 3 50;50;0 8.355 False ENSG00000174373 ENSG00000174373 HGNC:17770 RARS gene RARS Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 9, OMIM:616140 31814314;28905880;24777941 False 3 100;0;0 8.355 False ENSG00000113643 ENSG00000113643 HGNC:9870 RARS2 gene RARS2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, 611523;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.355 False ENSG00000146282 ENSG00000146282 HGNC:21406 RARS2 gene RARS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, 611523 25809939;29881806;17847012;20635367 False 3 67;33;0 8.355 False ENSG00000146282 ENSG00000146282 HGNC:21406 RBCK1 gene RBCK1 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 23889995;23104095 False 3 100;0;0 8.355 False ENSG00000125826 ENSG00000125826 HGNC:15864 RBP4 gene RBP4 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinol binding protein deficiency (Other disorders of vitamins and cofactors);Posterior segment abnormalities 27604308 False 3 0;0;0 8.355 False ENSG00000138207 ENSG00000138207 HGNC:9922 RELN gene RELN Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lissencephaly 2 (Norman-Roberts type), OMIM:257320;{Epilepsy, familial temporal lobe, 7}, OMIM:616436 26046367;17431900;10973257 False 3 50;50;0 8.355 False ENSG00000189056 ENSG00000189056 HGNC:9957 RFT1 gene RFT1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In 612015;Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) 27604308 False 3 0;0;0 8.355 False ENSG00000163933 ENSG00000163933 HGNC:30220 RFT1 gene RFT1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In, 612015 19701946;19856127;23111317 False 3 67;33;0 8.355 False ENSG00000163933 ENSG00000163933 HGNC:30220 RHEB gene RHEB Expert Review Green;NHS GMS;Expert list Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy and cortical dysplasia 29051493;30414531;33434304;37015817 False 3 67;33;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000106615 ENSG00000106615 HGNC:10011 RHOBTB2 gene RHOBTB2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 64 618004 29276004;29768694;26740508 False 3 67;33;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000008853 ENSG00000008853 HGNC:18756 RMND1 gene RMND1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11, 614922 23022098;25604853;25058219 False 3 67;33;0 8.355 False ENSG00000155906 ENSG00000155906 HGNC:21176 RMND1 gene RMND1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 11, 614922;Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect 27604308 False 3 100;0;0 8.355 False ENSG00000155906 ENSG00000155906 HGNC:21176 RNASEH1 gene RNASEH1 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 Reyes et al., 2005, Am. J. Hum. Genet., 97, 186-193. False 3 100;0;0 8.355 False ENSG00000171865 ENSG00000171865 HGNC:18466 RNASEH2A gene RNASEH2A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4, 610333 17846997;29239743;25604658 False 3 67;33;0 8.355 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, OMIM:610181 25604658;16845400;17846997;29239743 False 3 67;33;0 8.355 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3, 610329 29239743;17846997;25604658;29150899;20131292 False 3 67;33;0 8.355 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, cystic, without megalencephaly 612951 19525954 False 3 67;33;0 8.355 False ENSG00000026297 ENSG00000026297 HGNC:21686 RNF113A gene RNF113A Expert Review Green;Literature Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 25612912;31880405;31793730;29133357;30506991;15256591;24026126;23555887 False 3 100;0;0 8.355 False ENSG00000125352 ENSG00000125352 HGNC:12974 RNF13 gene RNF13 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 73, OMIM:618379 30595371 False 3 80;20;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000082996 ENSG00000082996 HGNC:10057 ROGDI gene ROGDI Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Kohlschutter-Tonz syndrome 226750 23086778;22424600 False 3 67;33;0 8.355 False ENSG00000067836 ENSG00000067836 HGNC:29478 RORA gene RORA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060" 29656859 False 3 50;50;0 8.355 False ENSG00000069667 ENSG00000069667 HGNC:10258 RORB gene RORB Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Epilepsy, idiopathic generalized, susceptibility to, 15}, OMIM:618357 27352968;24355400 False 3 67;33;0 8.355 False ENSG00000198963 ENSG00000198963 HGNC:10259 RPIA gene RPIA London North GLH;NHS GMS;Expert Review Green;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism);Ribose 5-phosphate isomerase deficiency, OMIM:608611 27604308;30088433;14988808;28801340 False 3 0;0;100 8.355 False ENSG00000153574 ENSG00000153574 HGNC:10297 RPL10 gene RPL10 Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic, 35 25316788 False 3 100;0;0 8.355 False ENSG00000147403 ENSG00000147403 HGNC:10298 RRM2B gene RRM2B London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077;Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075;Mitochondrial DNA Depletion Syndrome (recessive);Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism);Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant);Disorders of mitochondrial DNA maintenance and integrity;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 27604308 False 3 100;0;0 8.355 False ENSG00000048392 ENSG00000048392 HGNC:17296 RTN4IP1 gene RTN4IP1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 29181510;26593267 False 3 67;33;0 8.355 False ENSG00000130347 ENSG00000130347 HGNC:18647 RTN4IP1 gene RTN4IP1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 28638143;26593267;29181510 False 3 100;0;0 8.355 False ENSG00000130347 ENSG00000130347 HGNC:18647 RTTN gene RTTN Wessex and West Midlands GLH;NHS GMS;Expert Review Green;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and polymicrogyria with seizures 614833 26608784;22939636;29356416;29967526 False 3 50;50;0 8.355 False ENSG00000176225 ENSG00000176225 HGNC:18654 SACS gene SACS Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type;Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) 12873855 (18 patients from 4 families);15985586 (two siblings);14718706 (two sisters);16606928 (case study);10655055 (17 families with 24 patients);14718708 (two family members) False 3 100;0;0 8.355 False ENSG00000151835 ENSG00000151835 HGNC:10519 SAMHD1 gene SAMHD1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, 612952;seizures 29239743;25604658;19525956;30275001 False 3 67;33;0 8.355 False ENSG00000101347 ENSG00000101347 HGNC:15925 SAMHD1 gene SAMHD1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal (Disorders of nucleotide metabolism, Aicardi-Goutieres Syndrome) AGS5;Aicardi-Goutieres syndrome-5 (AGS5);Aicardi-Goutieres syndrome 5, 612952 PMID: 19525956;25604658 False 3 50;0;50 8.355 False ENSG00000101347 ENSG00000101347 HGNC:15925 SAR1B gene SAR1B London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Anderson disease (Inherited hypolipidaemias);CHYLOMICRON RETENTION DISEASE 246700 27604308 False 3 100;0;0 8.355 False ENSG00000152700 ENSG00000152700 HGNC:10535 SARS gene SARS Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 28236339;34570399;35790048;36041817 False 3 50;50;0 8.355 False ENSG00000031698 ENSG00000031698 HGNC:10537 SARS2 gene SARS2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 27604308 False 3 100;0;0 8.355 False ENSG00000104835 ENSG00000104835 HGNC:17697 SATB1 gene SATB1 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder 33513338 False 3 100;0;0 8.355 False ENSG00000182568 ENSG00000182568 HGNC:10541 SATB2 gene SATB2 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glass syndrome, OMIM:612313 32446642 False 3 100;0;0 8.355 False ENSG00000119042 ENSG00000119042 HGNC:21637 SC5D gene SC5D Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Lathosterolosis, 607330;Intellectual disability;Cataracts 27604308;12189593;12812989;30097991 False 3 0;0;0 8.355 False ENSG00000109929 ENSG00000109929 HGNC:10547 SCAF4 gene SCAF4 Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fliedner-Zweier syndrome, OMIM:620511 32730804 False 3 100;0;0 8.355 False ENSG00000156304 ENSG00000156304 HGNC:19304 SCAMP5 gene SCAMP5 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Global developmental delay;Intellectual disability;Seizures;Abnormality of nervous system morphology;Behavioral abnormality 31439720;20071347;32020363;33390987 False 3 75;25;0 8.355 False Other ENSG00000198794 ENSG00000198794 HGNC:30386 SCARB2 gene SCARB2 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Expert Review Green;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 4, with or without renal failure 254900 18308289;21670406;18424452;29605618 False 3 17;17;67 8.355 False ENSG00000138760 ENSG00000138760 HGNC:1665 SCN1A gene SCN1A Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, generalized, with febrile seizures plus, type 2 604403;Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208;Febrile seizures, familial, 3A 604403;Migraine, familial hemiplegic, 3 609634 11359211;10742094 False 3 86;14;0 8.355 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCN1B gene SCN1B Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 52, OMIM:617350 (AR);Generalized epilepsy with febrile seizures plus, type 1, OMIM:604233 (AD) 12011299;16205844;9697698;31709768;33901312;36291443 False 3 83;17;0 8.355 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN2A gene SCN2A Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 11 613721;Seizures, benign familial infantile, 3 607745 12243921;15028761 False 3 83;17;0 8.355 False ENSG00000136531 ENSG00000136531 HGNC:10588 SCN3A gene SCN3A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial focal, with variable foci 4 617935;Epileptic encephalopathy, early infantile, 62 617938 24157691;29466837;28235671 False 3 67;33;0 8.355 False ENSG00000153253 ENSG00000153253 HGNC:10590 SCN8A gene SCN8A Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 13, OMIM:614558;Seizures, benign familial infantile, 5, OMIM:617080;?Myoclonus, familial, 2, OMIM:618364 31625145;24194747;22365152;16236810 False 3 88;12;0 8.355 False Other ENSG00000196876 ENSG00000196876 HGNC:10596 SCO1 gene SCO1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 11013136;19295170;31352446;23878101 False 3 100;0;0 8.355 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex IV Deficiency;Isolated complex IV deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377;Myopia 6, 608908 27604308 False 3 100;0;0 8.355 False ENSG00000130489 ENSG00000130489 HGNC:10604 SCP2 gene SCP2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) 27604308 False 3 0;0;0 8.355 False ENSG00000116171 ENSG00000116171 HGNC:10606 SDHA gene SDHA London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011;Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259;Cardiomyopathy, dilated, 1GG, OMIM:613642 10976639;27683074;33471299 False 3 100;0;0 8.355 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Expert Review Green;NHS GMS;London North GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Mitochondrial complex II deficiency, 252011;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex II Deficiency;Isolated complex II deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000205138 ENSG00000205138 HGNC:33867 SDHB gene SDHB London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 PMID: 26925370;22972948 False 3 100;0;0 8.355 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHD gene SDHD Expert Review Green;NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Diseases;Isolated complex II deficiency 27604308 False 3 100;0;0 8.355 False ENSG00000204370 ENSG00000204370 HGNC:10683 SEC23B gene SEC23B London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type II, OMIM:224100;COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) 22208203;35163229 False 3 0;0;0 8.355 False ENSG00000101310 ENSG00000101310 HGNC:10702 SEMA6B gene SEMA6B Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, progressive myoclonic, 11 OMIM:618876 32169168;35604360 False 3 50;50;0 8.355 False Other ENSG00000167680 ENSG00000167680 HGNC:10739 SEPSECS gene SEPSECS Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D 613811 20920667;25044680;26115735;28133863 False 3 67;33;0 8.355 False ENSG00000109618 ENSG00000109618 HGNC:30605 SERAC1 gene SERAC1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739;Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 27604308 False 3 100;0;0 8.355 False ENSG00000122335 ENSG00000122335 HGNC:21061 SERPINI1 gene SERPINI1 Expert Review Green;Expert list Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Encephalopathy, familial, with neuroserpin inclusion bodies 604218 28631894;25401298;12103288 False 3 100;0;0 8.355 False ENSG00000163536 ENSG00000163536 HGNC:8943 SETBP1 gene SETBP1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schinzel-Giedion midface retraction syndrome 269150 20436468 False 3 67;33;0 8.355 False ENSG00000152217 ENSG00000152217 HGNC:15573 SETD1A gene SETD1A Expert Review Green;Expert list Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, early-onset, with or without developmental delay, 618832 31197650 False 3 100;0;0 8.355 False ENSG00000099381 ENSG00000099381 HGNC:29010 SETD1B gene SETD1B Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with seizures and language delay, OMIM:619000;Intellectual developmental disorder with seizures and language delay, MONDO:0033559 20648245;27106595;25428890;22369279;29322246;31440728;31685013;32546566 False 3 50;50;0 8.355 False ENSG00000139718 ENSG00000139718 HGNC:29187 SETD5 gene SETD5 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 23, 615761 25138099;24680889;29484850 False 3 71;29;0 8.355 False ENSG00000168137 ENSG00000168137 HGNC:25566 SETX gene SETX Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002;Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 27604308 False 3 100;0;0 8.355 False ENSG00000107290 ENSG00000107290 HGNC:445 SFXN4 gene SFXN4 Expert Review Green;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 18, 615578 24119684 False 3 100;0;0 8.355 False ENSG00000183605 ENSG00000183605 HGNC:16088 SGSH gene SGSH London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type III;Mucopolysaccharidosis, Type III;Mucopolysaccharidosis Type IIIA;MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses);MUCOPOLYSACCHARIDOSIS TYPE 3A 27604308 False 3 0;0;0 8.355 False ENSG00000181523 ENSG00000181523 HGNC:10818 SGSH gene SGSH Expert Review Green;Other;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900;seizures 21061399;30593151 False 3 100;0;0 8.355 False ENSG00000181523 ENSG00000181523 HGNC:10818 SHMT2 gene SHMT2 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121 33015733 False 3 100;0;0 8.355 False ENSG00000182199 ENSG00000182199 HGNC:10852 SI gene SI London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900;Disaccharide intolerance 1 (Other carbohydrate disorders) 27604308;14724820;8648527;16329100 False 3 100;0;0 8.355 False ENSG00000090402 ENSG00000090402 HGNC:10856 SIK1 gene SIK1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NEONATAL EPILEPSY SPECTRUM;Epileptic encephalopathy, early infantile, 30 PMID: 25839329 False 3 83;17;0 8.355 False ENSG00000142178 ENSG00000142178 HGNC:11142 SKIV2L gene SKIV2L Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Infantile enterocolitis & monogenic inflammatory bowel disease;Trichohepatoenteric syndrome 2 (Other metabolic disorders) 27604308 False 3 100;0;0 8.355 False ENSG00000204351 ENSG00000204351 HGNC:10898 SLC12A3 gene SLC12A3 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Gitelman syndrome, OMIM: 263800;Gitelman syndrome, MONDO:0009904 22009145;27604308;26770037;30999883 False 3 100;0;0 8.355 False ENSG00000070915 ENSG00000070915 HGNC:10912 SLC12A5 gene SLC12A5 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Epilepsy - early onset or syndromic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal epilepsy of infancy with migrating focal seizures (EIMFS);Epileptic encephalopathy, early infantile, 34, 616645;{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 26333769;24668262;27436767 False 3 86;14;0 8.355 True ENSG00000124140 ENSG00000124140 HGNC:13818 SLC13A5 gene SLC13A5 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 25 Thevenon et al (2014) AJHG 95, 113 120 False 3 83;17;0 8.355 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC16A1 gene SLC16A1 Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythrocyte lactate transporter defect, OMIM:245340;Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021;Monocarboxylate transporter 1 deficiency, OMIM:616095 26608392;17701893 False 3 0;0;0 8.355 False ENSG00000155380 ENSG00000155380 HGNC:10922 SLC16A2 gene SLC16A2 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Allan-Herndon-Dudley syndrome, OMIM:300523 27212794;15980113;18398436 False 3 86;14;0 8.355 True ENSG00000147100 ENSG00000147100 HGNC:10923 SLC17A5 gene SLC17A5 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Salla disease, OMIM:604369;Sialic acid storage disorder, infantile, OMIM:269920 False 3 0;0;0 8.355 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC18A2 gene SLC18A2 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism);Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) (NO phenotype number in OMIM) 27604308;26497564;23363473 False 3 100;0;0 8.355 False ENSG00000165646 ENSG00000165646 HGNC:10935 SLC19A2 gene SLC19A2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, 249270;Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Biotin-responsive basal ganglia disease (Disorders of thiamine metabolism);Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483 27604308 False 3 100;0;0 8.355 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC1A2 gene SLC1A2 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Literature;Literature Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 41, OMIM:617105;developmental and epileptic encephalopathy, 41, MONDO:0014916 27476654;28777935;23934111;9180080;28915517;27445142 False 3 75;25;0 8.355 True ENSG00000110436 ENSG00000110436 HGNC:10940 SLC1A4 gene SLC1A4 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 29989513;27193218;26138499;26041762;25930971 False 3 67;33;0 8.355 False ENSG00000115902 ENSG00000115902 HGNC:10942 SLC22A5 gene SLC22A5 NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, OMIM:212140;systemic primary carnitine deficiency disease, MONDO:0008919 10545605;11261427;27604308;24816252 False 3 100;0;0 8.355 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A1 gene SLC25A1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined D-2- and L-2-hydroxyglutaric aciduria False 3 67;33;0 8.355 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A1 gene SLC25A1 Expert Review Green;London North GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined D-2- and L-2-hydroxyglutaric aciduria, 615182;Disorders of mitochondrial protein transport;Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A12 gene SLC25A12 Expert Review Green;Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Inherited white matter disorders;Epileptic encephalopathy, early infantile, 39 612949;Hypomyelination, global cerebral, 612949;Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 19641205;27290639;24515575 False 3 100;0;0 8.355 False ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A12 gene SLC25A12 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 39 612949 24515575;19641205;27290639;26633542;31403263 False 3 60;40;0 8.355 True ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A13 gene SLC25A13 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Citrullinemia, adult-onset type II 603471;Citrullinemia, adult-onset type II, 603471Citrullinemia, type II, neonatal-onset, 605814;Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias) 27604308 False 3 100;0;0 8.355 False ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A15 gene SLC25A15 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970;HHH syndrome (Urea cycle disorders and inherited hyperammonaemias) 27604308 False 3 0;0;0 8.355 False ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A19 gene SLC25A19 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Microcephaly, Amish type, 607196;Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710;Microcephaly, Amish type (Disorders of thiamine metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A20 gene SLC25A20 NHS GMS;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency 212138;Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) 27604308 False 3 0;0;100 8.355 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A22 gene SLC25A22 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 3, 609304;Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 50;0;50 8.355 False ENSG00000177542 ENSG00000177542 HGNC:19954 SLC25A22 gene SLC25A22 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 3 Molinari et al (2005) Am J Hum Genet 76: 334_339 False 3 83;17;0 8.355 False ENSG00000177542 ENSG00000177542 HGNC:19954 SLC25A26 gene SLC25A26 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 28;intra-mitochondrial methylation deficiency.;Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness 26522469 False 3 100;0;0 8.355 False ENSG00000144741 ENSG00000144741 HGNC:20661 SLC25A3 gene SLC25A3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial phosphate carrier deficiency, 610773;Mitochondrial phosphate carrier deficiency 610773;Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000075415 ENSG00000075415 HGNC:10989 SLC25A32 gene SLC25A32 Expert list;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Exercise intolerance, riboflavin-responsive 26933868;28443623 False 3 0;0;0 8.355 False ENSG00000164933 ENSG00000164933 HGNC:29683 SLC25A38 gene SLC25A38 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal severe, non-syndromic, microcytic/hypochromic sideroblastic anemia;Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only));nonsyndromic autosomal recessive congenital sideroblastic anemia;congenital sideroblastic anemias PMID: 26821380 (potential novel treatment using glycine and folate).;PMID: 19731322 (12 probands with mutations in this gene);PMID: 25985931 (mutations detected in 3 patients in this gene);PMID: 21393332 (11 patients);PMID: 19412178 False 3 100;0;0 8.355 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC25A4 gene SLC25A4 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive External Ophthalmoplegia with Mitochondrial DNADeletions;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of mitochondrial DNA maintenance and integrity;Disorders of mitochondrial protein transport;Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283;Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 27604308 False 3 100;0;0 8.355 False ENSG00000151729 ENSG00000151729 HGNC:10990 SLC25A42 gene SLC25A42 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416;mitochondrial myopathy 26541337;29923093;29327420 False 3 100;0;0 8.355 False ENSG00000181035 ENSG00000181035 HGNC:28380 SLC25A46 gene SLC25A46 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal optic atrophy spectrum disorder 26168012 False 3 100;0;0 8.355 False ENSG00000164209 ENSG00000164209 HGNC:25198 SLC2A1 gene SLC2A1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Dystonia 9 601042 AD;GLUT1 deficiency syndrome 1, infantile onset, severe 606777 AD, AR;GLUT1 deficiency syndrome 2, childhood onset 612126 AD;Stomatin-deficient cryohydrocytosis with neurologic defects 608885 AD;{Epilepsy, idiopathic generalized, susceptibility to, 12} 614847" 22282645;20574033;21832227 False 3 83;17;0 8.355 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC2A1 gene SLC2A1 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual disability;Early onset dystonia;Cataracts;Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport);Hereditary ataxia;Epileptic encephalopathy;Familial Genetic Generalised Epilepsies;GLUT1 deficiency syndrome 1, infantile onset, severe, 606777;GLUT1 deficiency syndrome 2, childhood onset, 612126 27604308 False 3 0;0;0 8.355 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC2A2 gene SLC2A2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease type XI (Glycogen storage disorders);Glycogen Storage Disorders- Liver;Glucose transporter 2 deficiency (Disorders of glucose transport);Fanconi-Bickel Syndrome;renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly. 27604308 False 3 0;0;0 8.355 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLC30A10 gene SLC30A10 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, OMIM:613280 27604308 False 3 0;0;0 8.355 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC32A1 gene SLC32A1 Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted developmental and epileptic encephalopathy, MONDO:0100062;generalized epilepsy with febrile seizures plus, MONDO:0018214 34038384;36073542 False 3 100;0;0 8.355 False ENSG00000101438 ENSG00000101438 HGNC:11018 SLC35A1 gene SLC35A1 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIf 603585;Congenital disorder of glycosylation, type Iif, 603585;CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 27604308;23873973;28856833;15576474;30115659 False 3 0;0;100 8.355 False ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A2 gene SLC35A2 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Other Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Congenital disorder of glycosylation, type IIm, 300896 (includes Epileptic encephalopathy);Epileptic encephalopathy, early infantile, 22 (EIEE22);early-onset epileptic encephalopathy;epilepsy 24115232;27743886;30746764;30584598;29679388;23561849;30746764 False 3 75;25;0 8.355 True ENSG00000102100 ENSG00000102100 HGNC:11022 SLC35A2 gene SLC35A2 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability;Congenital disorder of glycosylation, type IIm 300896;SLC35A2-CDG (other congenital disorders of glycosylation) 27743886;25778940;23561849 False 3 100;0;0 8.355 False ENSG00000102100 ENSG00000102100 HGNC:11022 SLC35C1 gene SLC35C1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways);Congenital disorder of glycosylation, type IIc 266265 12476046;11326280 False 3 0;0;0 8.355 False ENSG00000181830 ENSG00000181830 HGNC:20197 SLC35D1 gene SLC35D1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) 19508970;17952091 False 3 0;0;0 8.355 False ENSG00000116704 ENSG00000116704 HGNC:20800 SLC37A4 gene SLC37A4 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glycogen storage disease Ib, OMIM:232220;Glycogen storage disease Ic, OMIM:232240;Congenital disorder of glycosylation, type IIw, OMIM:619525 27604308 False 3 0;0;0 8.355 False ENSG00000137700 ENSG00000137700 HGNC:4061 SLC38A3 gene SLC38A3 NHS GMS;Expert Review Green;Other;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 102, 619881 34605855 False 3 100;0;0 8.355 False ENSG00000188338 ENSG00000188338 HGNC:18044 SLC39A14 gene SLC39A14 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 2 27231142 False 3 100;0;0 8.355 False ENSG00000104635 ENSG00000104635 HGNC:20858 SLC39A4 gene SLC39A4 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica (Disorder of zinc metabolism);Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000147804 ENSG00000147804 HGNC:17129 SLC39A8 gene SLC39A8 Expert list;London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn 616721;Hypomagnesaemia with cerebellar atrophy, hypotonia, strabismus, developmental delay, short stature, mild skeletal dysplasia, and connective tissue abnormalities (Disorder of magnesium metabolism) 26637978;26637979 False 3 50;0;50 8.355 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC39A8 gene SLC39A8 Expert Review Green;NHS GMS;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn, OMIM:616721;SLC39A8-CDG, MONDO:0014746 26637978;26637979 False 3 100;0;0 8.355 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC3A1 gene SLC3A1 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Cystinuria (Disorders of amino acid transport);Hypotonia-cystinuria syndrome (Disorders of amino acid transport) 27604308 False 3 100;0;0 8.355 False ENSG00000138079 ENSG00000138079 HGNC:11025 SLC40A1 gene SLC40A1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemochromatosis, type 4 606069 (Disorder of iron metabolism);Hereditary haemochromatosis Type 4 (Disorder of iron metabolism) 27604308;11518736;11431687;10471458 False 3 100;0;0 8.355 False ENSG00000138449 ENSG00000138449 HGNC:10909 SLC46A1 gene SLC46A1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary;Hereditary folate malabsorption (Disorders of folate metabolism and transport) 27604308 False 3 0;0;0 8.355 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLC52A2 gene SLC52A2 NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2 614707 False 3 0;0;100 8.355 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1 211530;Fazio-Londe disease 211500 False 3 0;0;100 8.355 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A1 gene SLC5A1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glucose/galactose malabsorption (Disorders of glucose transport);Glucose/galactose malabsorption 606824 (Disorders of glucose transport) 27604308 False 3 100;0;0 8.355 False ENSG00000100170 ENSG00000100170 HGNC:11036 SLC5A6 gene SLC5A6 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973 27904971;31392107;31754459;23104561;29669219 False 3 100;0;0 8.355 False ENSG00000138074 ENSG00000138074 HGNC:11041 SLC6A1 gene SLC6A1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonic-atonic epilepsy, OMIM:616421 25865495;29315614;32469098;34006619;34028503 False 3 83;17;0 8.355 False ENSG00000157103 ENSG00000157103 HGNC:11042 SLC6A19 gene SLC6A19 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Iminoglycinuria, digenic;Hartnup disorder AD 27604308;20399395;19335424 False 3 100;0;0 8.355 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A20 gene SLC6A20 Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperglycinuria 24816252;19033659 False 3 0;0;100 8.355 False ENSG00000163817 ENSG00000163817 HGNC:30927 SLC6A3 gene SLC6A3 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Early onset dystonia;Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism);Parkinson Disease and Complex Parkinsonism 27604308 False 3 100;0;0 8.355 False ENSG00000142319 ENSG00000142319 HGNC:11049 SLC6A8 gene SLC6A8 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability;Creatine transporter deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000130821 ENSG00000130821 HGNC:11055 SLC6A8 gene SLC6A8 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Cerebral creatine deficiency syndrome 1 300352 11898126;12210795;17101918;17603797 False 3 29;14;57 8.355 False ENSG00000130821 ENSG00000130821 HGNC:11055 SLC7A7 gene SLC7A7 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance (Disorders of amino acid transport);Lysinuric protein intolerance 222700 27604308 False 3 0;0;0 8.355 False ENSG00000155465 ENSG00000155465 HGNC:11065 SLC7A9 gene SLC7A9 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Cystinuria (Disorders of amino acid transport) 27604308;24816252;12239244 False 3 100;0;0 8.355 False ENSG00000021488 ENSG00000021488 HGNC:11067 SLC9A6 gene SLC9A6 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;UKGTN Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked syndromic, Christianson type, 300243 18342287 False 3 83;17;0 8.355 False ENSG00000198689 ENSG00000198689 HGNC:11079 SMARCA2 gene SMARCA2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert list Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nicolaides-Baraitser syndrome 601358 22366787 False 3 67;33;0 8.355 False ENSG00000080503 ENSG00000080503 HGNC:11098 SMARCC2 gene SMARCC2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coffin-Siris syndrome 8, 618362;Global developmental delay;Intellectual disability;neurodevelopmental delay and growth retardation;prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features 27392482;30580808 False 3 33;67;0 8.355 False ENSG00000139613 ENSG00000139613 HGNC:11105 SMC1A gene SMC1A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cornelia de Lange syndrome 2, OMIM:300590;Cornelia de Lange syndrome 2, MONDO:0010370;Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044;Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 16604071;17273969;31185419;31098032;28677859;28548707;28166369;26752331;26386245;26358754 False 3 50;50;0 8.355 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMPD1 gene SMPD1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A, 257200;Niemann-Pick disease, type B, 607616 27604308 False 3 0;0;0 8.355 False ENSG00000166311 ENSG00000166311 HGNC:11120 SMS gene SMS Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, Snyder-Robinson type 309583 30237987;18550699;23897707 False 3 29;14;57 8.355 False ENSG00000102172 ENSG00000102172 HGNC:11123 SNAP25 gene SNAP25 Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Myasthenic syndrome, congenital 18, 616330;?Myasthenic syndrome, congenital, 18 29100083;28135719;25003006;29491473;25381298;30914295 False 3 67;33;0 8.355 False ENSG00000132639 ENSG00000132639 HGNC:11132 SNIP1 gene SNIP1 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501;psychomotor retardation, epilepsy, and craniofacial dysmorphism MONDO:0013787 22279524;34570759;31589614 False 3 17;67;17 8.355 False ENSG00000163877 ENSG00000163877 HGNC:30587 SNORD118 gene SNORD118 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, brain calcifications, and cysts 614561 27571260 False 3 67;33;0 8.355 False ENSG00000200463 ENSG00000200463 HGNC:32952 SPATA5 gene SPATA5 Expert Review Green;Other Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 27246907;29343804;26299366;28293831 False 3 100;0;0 8.355 False ENSG00000145375 ENSG00000145375 HGNC:18119 SPATA5L1 gene SPATA5L1 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 34626583 False 3 100;0;0 8.355 False ENSG00000171763 ENSG00000171763 HGNC:28762 SPG7 gene SPG7 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 27604308;9635427;16534102;17646629;18200586;20186691;22571692 False 3 100;0;0 8.355 False ENSG00000197912 ENSG00000197912 HGNC:11237 SPR gene SPR Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Early onset dystonia;Sepiapterin reductase deficiency (Disorders of pterin metabolism);Parkinson Disease and Complex Parkinsonism 27604308;22018912;22522443;22018912;24588500;28189489;21431957;16650784 False 3 100;0;0 8.355 False ENSG00000116096 ENSG00000116096 HGNC:11257 SPTAN1 gene SPTAN1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 5, OMIM:613477;developmental and epileptic encephalopathy, 5, MONDO:0013277 20493457;22258530;36331550 False 3 83;17;0 8.355 False ENSG00000197694 ENSG00000197694 HGNC:11273 SPTBN1 gene SPTBN1 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal dominant neurodevelopmental syndrome 34211179 False 3 100;0;0 8.355 False ENSG00000115306 ENSG00000115306 HGNC:11275 SPTLC1 gene SPTLC1 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease;Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis);Familial dysautonomia 27604308;21618344;20097765;30420926 False 3 100;0;0 8.355 False ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease;Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis);Familial dysautonomia 27604308;20920666 False 3 100;0;0 8.355 False ENSG00000100596 ENSG00000100596 HGNC:11278 SRD5A3 gene SRD5A3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal SRD5A3-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Iq 612379 27604308 False 3 0;0;0 8.355 False ENSG00000128039 ENSG00000128039 HGNC:25812 SSBP1 gene SSBP1 NHS GMS;Expert list;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510 31298765;31550240;31550237;30412255;31479473;34905022 False 3 0;0;0 8.355 False ENSG00000106028 ENSG00000106028 HGNC:11317 SSR4 gene SSR4 Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital disorder of glycosylation, type Iy 300934 26264460 False 3 0;0;0 8.355 False ENSG00000180879 ENSG00000180879 HGNC:11326 ST3GAL3 gene ST3GAL3 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 15, OMIM:615006;developmental and epileptic encephalopathy, 15, MONDO:0014003;Intellectual developmental disorder, autosomal recessive 12, OMIM:611090;intellectual disability, autosomal recessive 12, MONDO:0012612 27604308;21907012;23252400;31584066;17120046;25529582 False 3 100;0;0 8.355 False ENSG00000126091 ENSG00000126091 HGNC:10866 ST3GAL3 gene ST3GAL3 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 15, OMIM:615006;developmental and epileptic encephalopathy, 15, MONDO:0014003 27604308;21907012;23252400;31584066;17120046;25529582;30089820 False 3 22;33;44 8.355 False ENSG00000126091 ENSG00000126091 HGNC:10866 ST3GAL5 gene ST3GAL5 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Salt and pepper developmental regression syndrome 609056 27232954;24026681 False 3 67;33;0 8.355 False ENSG00000115525 ENSG00000115525 HGNC:10872 ST3GAL5 gene ST3GAL5 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);Salt and pepper developmental regression syndrome 609056;GM3 synthase deficiency (Disorders of complex lipid synthesis) 24026681;15502825 False 3 0;0;0 8.355 False ENSG00000115525 ENSG00000115525 HGNC:10872 STAG1 gene STAG1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 47 617635 28119487 False 3 67;33;0 8.355 False ENSG00000118007 ENSG00000118007 HGNC:11354 STAMBP gene STAMBP Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Microcephaly-capillary malformation syndrome, OMIM:614261 23542699;29907875;27531570;25692795 False 3 67;33;0 8.355 False ENSG00000124356 ENSG00000124356 HGNC:16950 STRADA gene STRADA Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Polyhydramnios, megalencephaly, and symptomatic epilepsy 611087 27170158;17522105;28688840;20424326 False 3 67;33;0 8.355 False ENSG00000266173 ENSG00000266173 HGNC:30172 STS gene STS Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked ichthyosis (Other disorders in the metabolism of sterols);Autosomal recessive congenital ichthyosis 27604308;1539590;29672931 False 3 100;0;0 8.355 False ENSG00000101846 ENSG00000101846 HGNC:11425 STT3A gene STT3A Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714;Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596 23842455;28424003;30701557;34653363 False 3 100;0;0 8.355 False ENSG00000134910 ENSG00000134910 HGNC:6172 STX1B gene STX1B Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Generalized epilepsy with febrile seizures plus, type 9, 616172 25362483 False 3 83;17;0 8.355 False ENSG00000099365 ENSG00000099365 HGNC:18539 STXBP1 gene STXBP1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Expert;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 4, OMIM:612164 35190816;31855252;18469812;19557857 False 3 43;14;43 8.355 False ENSG00000136854 ENSG00000136854 HGNC:11444 SUCLA2 gene SUCLA2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of mitochondrial DNA maintenance and integrity 27604308 False 3 100;0;0 8.355 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLA2 gene SUCLA2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 17301081;17287286;15877282;23759946;26475597 False 3 67;33;0 8.355 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA Depletion Syndrome;Disorders of mitochondrial DNA maintenance and integrity;Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400 27604308 False 3 100;0;0 8.355 False ENSG00000163541 ENSG00000163541 HGNC:11449 SUMF1 gene SUMF1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency 27604308 False 3 0;0;0 8.355 False ENSG00000144455 ENSG00000144455 HGNC:20376 SUOX gene SUOX Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Emory Genetics Laboratory Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency False 3 67;33;0 8.355 False ENSG00000139531 ENSG00000139531 HGNC:11460 SUOX gene SUOX London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency 27604308;27289259;12112661 False 3 0;0;0 8.355 False ENSG00000139531 ENSG00000139531 HGNC:11460 SURF1 gene SURF1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, due to COX IV deficiency, 256000 24462369;23829769;28273704;29481804 False 3 67;33;0 8.355 False ENSG00000148290 ENSG00000148290 HGNC:11474 SURF1 gene SURF1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Complex IV deficiency;Leigh Syndrome;Isolated complex IV deficiency;Leigh syndrome, due to COX deficiency, 256000;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) 27604308 False 3 100;0;0 8.355 False ENSG00000148290 ENSG00000148290 HGNC:11474 SYN1 gene SYN1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert list Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Epilepsy, X-linked, with variable learning disabilities and behavior disorders 300491 23406870;14985377;21441247 False 3 50;50;0 8.355 False ENSG00000008056 ENSG00000008056 HGNC:11494 SYNGAP1 gene SYNGAP1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert;Expert Review Green;UKGTN Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 5 Hamden et al (2009) N Engl J Med 360: 599-605 False 3 83;17;0 8.355 False ENSG00000197283 ENSG00000197283 HGNC:11497 SYNJ1 gene SYNJ1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Other;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 53, 617389 27435091 False 3 50;50;0 8.355 False ENSG00000159082 ENSG00000159082 HGNC:11503 SZT2 gene SZT2 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 18, False 3 17;17;67 8.355 False ENSG00000198198 ENSG00000198198 HGNC:29040 TACO1 gene TACO1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);?Mitochondrial complex IV deficiency, 220110;Isolated complex IV deficiency;Mitochondrial Respiratory Chain Complex IV Deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) 27604308 False 3 100;0;0 8.355 False ENSG00000136463 ENSG00000136463 HGNC:24316 TAF8 gene TAF8 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972 29648665;35759269 False 3 50;50;0 8.355 False ENSG00000137413 ENSG00000137413 HGNC:17300 TALDO1 gene TALDO1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Transaldolase deficiency 15877206;26238251;21119539;11283793;17095351;27604308;18331807;23315216 False 3 0;0;0 8.355 False ENSG00000177156 ENSG00000177156 HGNC:11559 TANGO2 gene TANGO2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 29369572;30245509;26805782;26805781 False 3 67;33;0 8.355 False ENSG00000183597 ENSG00000183597 HGNC:25439 TANGO2 gene TANGO2 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 26805782;26805781;30245509 False 3 67;0;33 8.355 False ENSG00000183597 ENSG00000183597 HGNC:25439 TARS2 gene TARS2 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 21, OMIM:615918 33153448;24827421;34508595 False 3 100;0;0 8.355 False ENSG00000143374 ENSG00000143374 HGNC:30740 TAT gene TAT Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism) 27604308;28255985 False 3 100;0;0 8.355 False ENSG00000198650 ENSG00000198650 HGNC:11573 TAZ gene TAZ London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Barth syndrome, 302060;Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias);Disorders of mitochondrial lipid metabolism 27604308 False 3 100;0;0 8.355 False ENSG00000102125 ENSG00000102125 HGNC:11577 TBC1D24 gene TBC1D24 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal "DOORS syndrome 220500;Epileptic encephalopathy, early infantile, 16 615338;Myoclonic epilepsy, infantile, familial 605021" 20797691;23343562;24291220;10741954;20727515 False 3 17;17;67 8.355 False ENSG00000162065 ENSG00000162065 HGNC:29203 TBC1D2B gene TBC1D2B Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Global developmental delay;Intellectual disability;Seizures;Gingival overgrowth;Behavioral abnormality;Abnormality of the mandible;Abnormality of brain morphology;Abnormality of the eye;Hearing abnormality 32623794 False 3 100;0;0 8.355 False ENSG00000167202 ENSG00000167202 HGNC:29183 TBCD gene TBCD Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193;Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646 27666370;27666374 False 3 67;33;0 8.355 False ENSG00000141556 ENSG00000141556 HGNC:11581 TBCK gene TBCK Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900;seizures 27040691;27040692 False 3 67;33;0 8.355 False ENSG00000145348 ENSG00000145348 HGNC:28261 TBL1XR1 gene TBL1XR1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 41, 616944;Pierpont syndrome, 602342 29777588;25102098;30365874;21834056;9450851 False 3 29;14;57 8.355 False ENSG00000177565 ENSG00000177565 HGNC:29529 TCF4 gene TCF4 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Pitt-Hopkins syndrome 610954" 29604340;17436255 False 3 83;17;0 8.355 False ENSG00000196628 ENSG00000196628 HGNC:11634 TCN2 gene TCN2 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital neutropaenia;Intellectual disability;A- or hypo-gammaglobulinaemia;Agranulocytosis;Combined B and T cell defect;SCID;Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism) 27604308;19373259 False 3 100;0;0 8.355 False ENSG00000185339 ENSG00000185339 HGNC:11653 TDP2 gene TDP2 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 23, 616949 24658003;30109272;31410782 False 3 100;0;0 8.355 False ENSG00000111802 ENSG00000111802 HGNC:17768 TFAM gene TFAM Expert Review Green;NHS GMS;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156 27448789;31785789;32399598;34647195 False 3 100;0;0 8.355 False ENSG00000108064 ENSG00000108064 HGNC:11741 TFE3 gene TFE3 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, OMIM:301066 30595499;31833172;32409512;https://doi.org/10.1126/scisignal.aax0926 False 3 50;17;33 8.355 False ENSG00000068323 ENSG00000068323 HGNC:11752 TFR2 gene TFR2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 3 604250;Hereditary haemochromatosis Type 3 (Disorder of iron metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000106327 ENSG00000106327 HGNC:11762 TH gene TH Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Early onset dystonia;Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines);Parkinson Disease and Complex Parkinsonism 27604308;24753243 False 3 100;0;0 8.355 False ENSG00000180176 ENSG00000180176 HGNC:11782 TIAM1 gene TIAM1 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with language delay and seizures, OMIM:619908 35240055;33328293 False 3 67;33;0 8.355 False ENSG00000156299 ENSG00000156299 HGNC:11805 TIMM50 gene TIMM50 Expert Review Green;Literature;Expert Review;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type IX 617698 27573165 False 3 50;50;0 8.355 False ENSG00000105197 ENSG00000105197 HGNC:23656 TIMM50 gene TIMM50 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type IX, 617698;intellectual disability and seizure;epilepsy and developmental delay;epileptic encephalopathy 27573165;30190335;31058414;Serajee et al. (ASHG conference 2015 - abstract Nr. 2299T) False 3 50;50;0 8.355 False ENSG00000105197 ENSG00000105197 HGNC:23656 TIMM8A gene TIMM8A London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome, 304700;Jensen syndrome, 311150;Disorders of the mitochondrial import system;Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Deafness, X-linked 1, progressive 27604308 False 3 100;0;0 8.355 False ENSG00000126953 ENSG00000126953 HGNC:11817 TIMMDC1 gene TIMMDC1 Expert Review Green;NHS GMS;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251 28604674;33278652 False 3 100;0;0 8.355 False ENSG00000113845 ENSG00000113845 HGNC:1321 TK2 gene TK2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560;Mitochondrial DNA Depletion Syndrome;Disorders of mitochondrial DNA maintenance and integrity;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Thymidine kinase 2 deficiency (Disorders of pyrimidine metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000166548 ENSG00000166548 HGNC:11831 TMEM126B gene TMEM126B Expert Review Green;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency 27374773;27374774 False 3 50;50;0 8.355 False ENSG00000171204 ENSG00000171204 HGNC:30883 TMEM165 gene TMEM165 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk 614727;CDG2K (other congenital disorders of glycosylation) 27604308 False 3 0;0;0 8.355 False ENSG00000134851 ENSG00000134851 HGNC:30760 TMEM199 gene TMEM199 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIp 616829 26833330 False 3 0;0;0 8.355 False ENSG00000244045 ENSG00000244045 HGNC:18085 TMEM222 gene TMEM222 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Motor delay;Delayed speech and language development;Intellectual disability;Generalized hypotonia;Broad-based gait;Abnormality of nervous system morphology;Seizures;Microcephaly;Behavioral abnormality 33824500;27457812 False 3 67;33;0 8.355 False ENSG00000186501 ENSG00000186501 HGNC:25363 TMEM5 gene TMEM5 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 27212206 False 3 0;0;0 8.355 False ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM70 gene TMEM70 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052;Isolated complex V deficiency;Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2;Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 27604308 False 3 100;0;0 8.355 False ENSG00000175606 ENSG00000175606 HGNC:26050 TMX2 gene TMX2 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730;Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887 31586943;31735293;31270415 False 3 100;0;0 8.355 False ENSG00000213593 ENSG00000213593 HGNC:30739 TNPO2 gene TNPO2 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability;Dysmorphic features;Microcephaly;Seizures;Hypotonia 34314705 False 3 100;0;0 8.355 False ENSG00000105576 ENSG00000105576 HGNC:19998 TOP3A gene TOP3A Expert Review Green;Expert Review Green;NHS GMS;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 29290614 False 3 0;0;100 8.355 False ENSG00000177302 ENSG00000177302 HGNC:11992 TPK1 gene TPK1 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 False 3 100;0;0 8.355 False ENSG00000196511 ENSG00000196511 HGNC:17358 TPP1 gene TPP1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Ceroid lipofuscinosis, neuronal, 2;CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal);Hereditary ataxia 27604308 False 3 0;0;0 8.355 False ENSG00000166340 ENSG00000166340 HGNC:2073 TPP1 gene TPP1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2 204500 9295267;10665500;12414822;17959406 False 3 17;17;67 8.355 False ENSG00000166340 ENSG00000166340 HGNC:2073 TRA2B gene TRA2B Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 36549593 False 3 100;0;0 8.355 False ENSG00000136527 ENSG00000136527 HGNC:10781 TRAK1 gene TRAK1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Literature;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 68 618201" 28364549 False 3 67;33;0 8.355 False ENSG00000182606 ENSG00000182606 HGNC:29947 TRAP1 gene TRAP1 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal VACTERL;CAKUT PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL. False 3 100;0;0 8.355 False ENSG00000126602 ENSG00000126602 HGNC:16264 TRAPPC12 gene TRAPPC12 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669;Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696 28777934;32369837 False 3 50;50;0 8.355 True ENSG00000171853 ENSG00000171853 HGNC:24284 TRAPPC4 gene TRAPPC4 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, 618741 31794024 False 3 100;0;0 8.355 False ENSG00000196655 ENSG00000196655 HGNC:19943 TREX1 gene TREX1 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual disability;Familial cerebral small vessel disease;Intracerebral calcification disorders;(Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1;Inherited white matter disorders 27604308;12624136;25604658 False 3 100;0;0 8.355 False ENSG00000213689 ENSG00000213689 HGNC:12269 TREX1 gene TREX1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1, dominant and recessive, 225750;seizures;Vasculopathy, retinal, with cerebral leukodystrophy, 192315;{Systemic lupus erythematosus, susceptibility to}, 152700 29239743;15883328;17846997;17357087;18583934 False 3 67;33;0 8.355 False ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM37 gene TRIM37 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mulibrey nanism (Other peroxisomal disorders);Mulibrey nanism 27604308 False 3 0;0;0 8.355 False ENSG00000108395 ENSG00000108395 HGNC:7523 TRIM8 gene TRIM8 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early-onset epileptic encephalopathy (EOEE);EE;Seizures 30244534;27346735;23934111 False 3 75;25;0 8.355 False ENSG00000171206 ENSG00000171206 HGNC:15579 TRIT1 gene TRIT1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 35, OMIM :617873;combined oxidative phosphorylation deficiency 35, MONDO:0054742 24901367;28185376 False 3 100;0;0 8.355 False ENSG00000043514 ENSG00000043514 HGNC:20286 TRMT10C gene TRMT10C Expert Review Green;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 30, 616974 27132592 False 3 0;100;0 8.355 False ENSG00000174173 ENSG00000174173 HGNC:26022 TRMT5 gene TRMT5 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 26 616539;Multiple Respiratory-Chain Deficiencies 29021354;26189817 False 3 100;0;0 8.355 False ENSG00000126814 ENSG00000126814 HGNC:23141 TRMU gene TRMU London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal {Deafness, mitochondrial, modifier of}, 580000;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Liver failure, transient infantile, 613070 27604308 False 3 100;0;0 8.355 False ENSG00000100416 ENSG00000100416 HGNC:25481 TRNT1 gene TRNT1 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD);retinitis pigmentosa with erythrocytic microcytosis 25652405;26494905 False 3 100;0;0 8.355 False ENSG00000072756 ENSG00000072756 HGNC:17341 TRPM3 gene TRPM3 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, OMIM:620224 31278393;32439617;32343227;32427099 False 3 40;60;0 8.355 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000083067 ENSG00000083067 HGNC:17992 TRPM6 gene TRPM6 Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal 602014 False 3 67;33;0 8.355 False ENSG00000119121 ENSG00000119121 HGNC:17995 TRPM6 gene TRPM6 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal 602014;Hypomagnesaemia type 1, intestinal (Disorder of magnesium metabolism) 27604308;23942199;12032570 False 3 100;0;0 8.355 False ENSG00000119121 ENSG00000119121 HGNC:17995 TSC1 gene TSC1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Focal cortical dysplasia, type II, somatic 607341;Tuberous sclerosis-1 191100 28215400;19175396;16114042;12112044 False 3 67;33;0 8.355 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Focal cortical dysplasia, type II, somatic 607341;Tuberous sclerosis-2 613254 28215400;19175396;29056246 False 3 50;50;0 8.355 False ENSG00000103197 ENSG00000103197 HGNC:12363 TSEN54 gene TSEN54 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Pontocerebellar hypoplasia type 5, OMIM:610204;Pontocerebellar hypoplasia type 2A, OMIM:277470;Pontocerebellar hypoplasia type 4, OMIM:225753 7854532;16470708;20956791;20952379;26701950 False 3 67;33;0 8.355 False ENSG00000182173 ENSG00000182173 HGNC:27561 TSFM gene TSFM London North GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3, 610505;Combined oxidative phosphorylation deficiency 3 610505;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.355 False ENSG00000123297 ENSG00000123297 HGNC:12367 TTC19 gene TTC19 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Isolated complex III deficiency;Mitochondrial Respiratory Chain Complex III Deficiency;Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial complex III deficiency, nuclear type 2, 615157 27604308 False 3 100;0;0 8.355 False ENSG00000011295 ENSG00000011295 HGNC:26006 TTC37 gene TTC37 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Infantile enterocolitis & monogenic inflammatory bowel disease;Trichohepatoenteric syndrome 1 (Other metabolic disorders) 27604308;25976726;28292286;31132033 False 3 50;0;50 8.355 False ENSG00000198677 ENSG00000198677 HGNC:23639 TTPA gene TTPA Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal TTP1 deficiency (Other disorders of vitamins and cofactors);Hereditary ataxia 27604308;26981194 False 3 100;0;0 8.355 False ENSG00000137561 ENSG00000137561 HGNC:12404 TUBA1A gene TUBA1A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 3, 611603 17218254;17584854;18954413;21403111;22948023 False 3 67;33;0 8.355 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB2A gene TUBB2A Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763;Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 24702957;25326637;32571897 False 3 60;40;0 8.355 True ENSG00000137267 ENSG00000137267 HGNC:12412 TUBB2B gene TUBB2B Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031 19465910;22333901 False 3 67;33;0 8.355 False ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 1, 614039 20829227;26130693;25008804 False 3 67;33;0 8.355 False ENSG00000258947 ENSG00000258947 HGNC:20772 TUBB4A gene TUBB4A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 6, 612438 24742798;26643067 False 3 67;33;0 8.355 False ENSG00000104833 ENSG00000104833 HGNC:20774 TUBG1 gene TUBG1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 4, 615412 23603762;24860126;27010057;29706637;31151415 False 3 67;33;0 8.355 False ENSG00000131462 ENSG00000131462 HGNC:12417 TUBGCP2 gene TUBGCP2 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737 31630790 False 3 100;0;0 8.355 False ENSG00000130640 ENSG00000130640 HGNC:18599 TUFM gene TUFM Expert Review Green;Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 4 610678;Combined oxidative phosphorylation deficiency 4, 610678 26741492;17160893;25735936;28132884 False 3 100;0;0 8.355 False ENSG00000178952 ENSG00000178952 HGNC:12420 TUSC3 gene TUSC3 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 7, OMIM:611093 18452889;18455129;21739581;26864433;27148795 False 3 0;0;0 8.355 False ENSG00000104723 ENSG00000104723 HGNC:30242 TWNK gene TWNK London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286;Perrault syndrome 5, OMIM:616138 27604308 False 3 100;0;0 8.355 False ENSG00000107815 ENSG00000107815 HGNC:1160 TYMP gene TYMP London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism);Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of mitochondrial DNA maintenance and integrity;Mitochondrial Neurogastrointestinal Encephalopathy Disease;Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 27604308;24816252 False 3 100;0;0 8.355 False ENSG00000025708 ENSG00000025708 HGNC:3148 UBA5 gene UBA5 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 44, 617132 27545681;27545674 False 3 67;33;0 8.355 False ENSG00000081307 ENSG00000081307 HGNC:23230 UBAP2L gene UBAP2L Expert Review Green;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, OMIM:620494 35977029 False 3 50;50;0 8.355 False ENSG00000143569 ENSG00000143569 HGNC:29877 UBE2A gene UBE2A Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Nascimento-type Nascimento et al (2006) Am J Hum Genet 79: 549-555 False 3 83;17;0 8.355 False ENSG00000077721 ENSG00000077721 HGNC:12472 UBE3A gene UBE3A Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Angelman syndrome 105830 Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117;9887341;8988171;8988172;21974935;[7795645;2309780;12545427;18500341] False 3 83;17;0 8.355 False ENSG00000114062 ENSG00000114062 HGNC:12496 UBR7 gene UBR7 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;epilepsy;hypothyroidism;congenital anomalies;dysmorphic features 33340455 False 3 100;0;0 8.355 False ENSG00000012963 ENSG00000012963 HGNC:20344 UFM1 gene UFM1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leukodystrophy hypomyelinating 14, 617899 28931644;29868776 False 3 67;33;0 8.355 False ENSG00000120686 ENSG00000120686 HGNC:20597 UFSP2 gene UFSP2 Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Poor weight gain;microcephaly;epilepsy;developmental delay;lack of speech;intellectual disability 33473208;28892125;26428751;32755715 False 3 67;33;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000109775 ENSG00000109775 HGNC:25640 UGDH gene UGDH Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 84 - MIM #618792 32001716 False 3 100;0;0 8.355 False ENSG00000109814 ENSG00000109814 HGNC:12525 UGP2 gene UGP2 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 83, OMIM:618744 31820119 False 3 100;0;0 8.355 False ENSG00000169764 ENSG00000169764 HGNC:12527 UGT1A1 gene UGT1A1 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Crigler-Najjar syndrome, type I 218800;Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport);Crigler-Najjar syndrome, type II 606785 27604308;24816252 False 3 100;0;0 8.355 False ENSG00000241635 ENSG00000241635 HGNC:12530 UMOD gene UMOD Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cystic kidney disease;Unexplained kidney failure in young people;Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism) 27604308;31422399;29180396 False 3 100;0;0 8.355 False ENSG00000169344 ENSG00000169344 HGNC:12559 UMPS gene UMPS London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Orotic aciduria;Orotic aciduria (Disorders of pyrimidine metabolism) 27604308;9042911 False 3 0;0;0 8.355 False ENSG00000114491 ENSG00000114491 HGNC:12563 UNC80 gene UNC80 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801 26708751;26708753;26545877;29572195 False 3 67;33;0 8.355 False ENSG00000144406 ENSG00000144406 HGNC:26582 UPB1 gene UPB1 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism);Beta-ureidopropionase deficiency 613161 27604308;24526388;25638458;22525402;15385443;17964839 False 3 50;0;50 8.355 False ENSG00000100024 ENSG00000100024 HGNC:16297 UQCC2 gene UQCC2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824 28804536;24385928 False 3 50;50;0 8.355 False ENSG00000137288 ENSG00000137288 HGNC:21237 UQCRB gene UQCRB Expert Review Green;Expert Review Green;NHS GMS;London North GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158;Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex III deficiency 25446085;28604960;12709789;23454382 False 3 50;0;50 8.355 False ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRC2 gene UQCRC2 Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 5, OMIM:615160 23281071;28275242;33865955 False 3 75;25;0 8.355 False ENSG00000140740 ENSG00000140740 HGNC:12586 UQCRFS1 gene UQCRFS1 Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775 31883641 False 3 67;33;0 8.355 False ENSG00000169021 ENSG00000169021 HGNC:12587 UROD gene UROD London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) 27604308 False 3 100;0;0 8.355 False ENSG00000126088 ENSG00000126088 HGNC:12591 UROS gene UROS London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis);Porphyria, congenital erythropoietic 263700 27604308 False 3 100;0;0 8.355 False ENSG00000188690 ENSG00000188690 HGNC:12592 USP18 gene USP18 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 2, 617397 12833411;27325888;31940699 False 3 100;0;0 8.355 False ENSG00000184979 ENSG00000184979 HGNC:12616 VAMP2 gene VAMP2 Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical visual impairment;Seizures;Stereotypic behavior;Generalized hypotonia;Intellectual disability;Abnormality of movement;Global developmental delay;Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment;Autistic behavior 27458546;22183055;30929742 False 3 75;25;0 8.355 False ENSG00000220205 ENSG00000220205 HGNC:12643 VARS gene VARS Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 617802 26539891;29691655;30275004 False 3 67;33;0 8.355 False ENSG00000204394 ENSG00000204394 HGNC:12651 VARS2 gene VARS2 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 20, 615917 False 3 100;0;0 8.355 False ENSG00000137411 ENSG00000137411 HGNC:21642 VIPAS39 gene VIPAS39 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Inherited bleeding disorders;ARC Syndrome (Other metabolic disorders);Arthrogryposis 27604308;22753090;26808426 False 3 100;0;0 8.355 False ENSG00000151445 ENSG00000151445 HGNC:20347 VKORC1 gene VKORC1 Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473 27604308 False 3 100;0;0 8.355 False ENSG00000167397 ENSG00000167397 HGNC:23663 VPS11 gene VPS11 Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 12 (MIM 616683);Leukodystrophy, hypomyelinating, 12 27473128;26307567;27120463 False 3 75;25;0 8.355 False ENSG00000160695 ENSG00000160695 HGNC:14583 VPS33B gene VPS33B Expert Review Green;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Inherited bleeding disorders;Unexplained kidney failure in young people;CAKUT;ARC Syndrome (Other metabolic disorders);Arthrogryposis 27604308;18853461 False 3 100;0;0 8.355 False ENSG00000184056 ENSG00000184056 HGNC:12712 WARS2 gene WARS2 Expert Review Green;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 28650581;28905505;28236339 False 3 50;50;0 8.355 False ENSG00000116874 ENSG00000116874 HGNC:12730 WARS2 gene WARS2 Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 29783990;28236339;29120065;28650581;28905505 False 3 67;33;0 8.355 False ENSG00000116874 ENSG00000116874 HGNC:12730 WASF1 gene WASF1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with absent language and variable seizures, 618707 29961568 False 3 67;33;0 8.355 False ENSG00000112290 ENSG00000112290 HGNC:12732 WDR37 gene WDR37 Expert Review Green;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Seizures;Abnormality of the eye;Abnormality of nervous system morphology;Hearing abnormality;Abnormality of the cardiovascular system;Abnormality of the skeletal system;Abnormality of the genitourinary system;Neurooculocardiogenitourinary syndrome, OMIM:618652 31327510;31327508 False 3 100;0;0 8.355 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000047056 ENSG00000047056 HGNC:31406 WDR45 gene WDR45 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Neurodegeneration with brain iron accumulation 5, 300894 23176820;Saitsu et al (2013) Nat Genet. 45(4):445-9 False 3 83;17;0 8.355 False ENSG00000196998 ENSG00000196998 HGNC:28912 WDR45 gene WDR45 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Neurodegeneration with brain iron accumulation 5 27604308 False 3 0;0;0 8.355 False ENSG00000196998 ENSG00000196998 HGNC:28912 WDR45B gene WDR45B Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977 21937992;28503735;27431290 False 3 50;50;0 8.355 True ENSG00000141580 ENSG00000141580 HGNC:25072 WDR73 gene WDR73 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 1, 251300 25466283;26123727;26070982 False 3 67;33;0 8.355 False ENSG00000177082 ENSG00000177082 HGNC:25928 WFS1 gene WFS1 Expert Review Green;NHS GMS;London North GLH;NHS GMS Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Wolfram syndrome 1, OMIM:222300;Wolfram-like syndrome, autosomal dominant, OMIM:614296;Diabetes mellitus, noninsulin-dependent, association with, OMIM:125853 27604308;30171196;33693650 False 3 50;0;50 8.355 False ENSG00000109501 ENSG00000109501 HGNC:12762 WNK3 gene WNK3 NHS GMS;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked intellectual disability, MONDO:0100284 26350204;35678782 False 3 25;0;75 8.355 False ENSG00000196632 ENSG00000196632 HGNC:14543 WWOX gene WWOX Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 28, 616211 24369382;24456803 False 3 83;17;0 8.355 False ENSG00000186153 ENSG00000186153 HGNC:12799 XDH gene XDH London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Xanthinuria type II (Disorders of purine metabolism);Xanthinuria type I (Disorders of purine metabolism) 27604308 False 3 100;0;0 8.355 False ENSG00000158125 ENSG00000158125 HGNC:12805 XPNPEP3 gene XPNPEP3 Expert Review Green;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163 20179356;32660933 False 3 100;0;0 8.355 False ENSG00000196236 ENSG00000196236 HGNC:28052 XYLT1 gene XYLT1 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 2, 615777 23982343;24581741 False 3 0;0;0 8.355 False ENSG00000103489 ENSG00000103489 HGNC:15516 XYLT2 gene XYLT2 Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Spondyloocular syndrome 26987875;26027496 False 3 0;0;0 8.355 False ENSG00000015532 ENSG00000015532 HGNC:15517 YARS2 gene YARS2 London North GLH;NHS GMS;Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 27604308 False 3 100;0;0 8.355 False ENSG00000139131 ENSG00000139131 HGNC:24249 YIPF5 gene YIPF5 NHS GMS;Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278 33164986 False 3 100;0;0 8.355 False ENSG00000145817 ENSG00000145817 HGNC:24877 YWHAG gene YWHAG Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 56 617665 26297819;27288018;28777935;25363760 False 3 67;33;0 8.355 False ENSG00000170027 ENSG00000170027 HGNC:12852 ZBTB18 gene ZBTB18 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 22, 612337 27598823;24193349;26740508 False 3 67;33;0 8.355 False ENSG00000179456 ENSG00000179456 HGNC:13030 ZDHHC9 gene ZDHHC9 Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females epilepsy;intellectual disability;Mental retardation, X-linked syndromic, Raymond type, OMIM:300799 24357419;26000327;29681091 False 3 67;33;0 8.355 False ENSG00000188706 ENSG00000188706 HGNC:18475 ZEB2 gene ZEB2 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mowat-Wilson syndrome Dastot-Le Moal et al (2007) Hum Mut 28(4): 313-321 False 3 83;17;0 8.355 False ENSG00000169554 ENSG00000169554 HGNC:14881 ZNF142 gene ZNF142 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Seizures;Dystonia;Intellectual disability;Global developmental delay;Tremor;Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 31036918 False 3 25;75;0 8.355 False ENSG00000115568 ENSG00000115568 HGNC:12927 ZNF335 gene ZNF335 Expert Review Green;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Microcephaly 10, primary, autosomal recessive, 615095 23178126;27540107;29652087;30500859;31187448 False 3 100;0;0 8.355 False ENSG00000198026 ENSG00000198026 HGNC:15807 ABCA2 gene ABCA2 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM:618808;Intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930 30237576;29302074;31047799 False 2 33;67;0 8.355 False ENSG00000107331 ENSG00000107331 HGNC:32 ACACA gene ACACA Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Acetyl-CoA carboxylase deficiency, OMIM: 613933 6114432;34552920;36709796 False 2 50;50;0 8.355 False ENSG00000132142 ENSG00000278540 HGNC:84 ADAM22 gene ADAM22 Expert Review Amber;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Epileptic encephalopathy, early infantile, 61 OMIM:617933;developmental and epileptic encephalopathy, 61 MONDO:0033370 27066583;30237576;15876356;31432233;33397806 False 2 33;67;0 8.355 False ENSG00000008277 ENSG00000008277 HGNC:201 ADAT3 gene ADAT3 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286 23620220;26842963;30296593;29796286 False 2 33;67;0 8.355 False ENSG00000213638 ENSG00000213638 HGNC:25151 ADD1 gene ADD1 Expert Review Amber;Literature Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Global developmental delay;Intellectual disability;Seizures;Ventriculomegaly;Abnormality of the corpus callosum 34906466 False 2 0;100;0 8.355 False ENSG00000087274 ENSG00000087274 HGNC:243 AGO1 gene AGO1 Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292 25356899;30213762;34930816 False 2 100;0;0 8.355 False ENSG00000092847 ENSG00000092847 HGNC:3262 AIMP2 gene AIMP2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic Encephalopathy;Infantile Spasms;Leukodystrophy, hypomyelinating, 17, 618006;neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis 29215095;26795593 False 2 0;100;0 8.355 False ENSG00000106305 ENSG00000106305 HGNC:20609 ALG13 gene ALG13 Expert Review Amber;London North GLH;NHS GMS Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "?Congenital disorder of glycosylation, type Is 300884;Epileptic encephalopathy, early infantile, 36 300884" 27604308;25732998;22492991 False 2 0;0;0 8.355 False ENSG00000101901 ENSG00000101901 HGNC:30881 ALG2 gene ALG2 Expert Review Amber;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 14, with tubular aggregates 616228;Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation);?Congenital disorder of glycosylation, type Ii 607906 12684507;23404334 False 2 0;0;100 8.355 False ENSG00000119523 ENSG00000119523 HGNC:23159 ANK2 gene ANK2 Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 37195288 False 2 100;0;0 8.355 False ENSG00000145362 ENSG00000145362 HGNC:493 ARF3 gene ARF3 Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability, MONDO:0001071;Seizures;Morphological abnormality of the central nervous system;microcephaly, MONDO:0001149 34346499;36369169 False 2 100;0;0 8.355 False ENSG00000134287 ENSG00000134287 HGNC:654 ARSK gene ARSK Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidoses with short stature, coarse facial features and dysostosis multiplex 34916232 False 2 0;100;0 8.355 False ENSG00000164291 ENSG00000164291 HGNC:25239 ASL gene ASL Expert Review Amber;ClinGen;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria, OMIM:207900;argininosuccinic aciduria, MONDO:0008815;seizure, HP:0001250 12384776;17326097;29326055;38044746;28251416;36994644;21744316 False 2 100;0;0 8.355 False ENSG00000126522 ENSG00000126522 HGNC:746 ATP2B1 gene ATP2B1 Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder, autosomal dominant 66, 619910 35358416;33057194 False 2 0;100;0 8.355 False ENSG00000070961 ENSG00000070961 HGNC:814 ATP5A1 gene ATP5A1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228;Combined oxidative phosphorylation deficiency 22, OMIM: 616045 False 2 0;67;33 8.355 False ENSG00000152234 ENSG00000152234 HGNC:823 ATP5B gene ATP5B Expert Review Amber Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085 36239646;36860166 False 2 0;100;0 8.355 False ENSG00000110955 ENSG00000110955 HGNC:830 ATP5E gene ATP5E Expert Review Amber;London North GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053;mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547 20566710;27626380;25954304;27604308 False 2 100;0;0 8.355 False ENSG00000124172 ENSG00000124172 HGNC:838 ATP6AP2 gene ATP6AP2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services;Literature;Literature Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic, Hedera type False 2 0;67;33 8.355 False ENSG00000182220 ENSG00000182220 HGNC:18305 ATP6V0C gene ATP6V0C Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 24623842;33090716;33190975;35600075;36074901;37161035 False 2 67;33;0 8.355 False ENSG00000185883 ENSG00000185883 HGNC:855 BLOC1S1 gene BLOC1S1 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal severe intellectual disability;severe global developmental delay;epilepsy 33875846 False 2 100;0;0 8.355 False ENSG00000135441 ENSG00000135441 HGNC:4200 CACNA1H gene CACNA1H Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Expert;Literature Epilepsy - early onset or syndromic Hyperaldosteronism, familial, type IV 617027;{Epilepsy, childhood absence, susceptibility to, 6} 611942;{Epilepsy, idiopathic generalized, susceptibility to, 6} 611942 12891677;32227660;15048902 False 2 0;38;62 8.355 False ENSG00000196557 ENSG00000196557 HGNC:1395 CACNA2D1 gene CACNA2D1 Expert Review Amber;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Early onset developmental epilepsy 35293990;28097321 False 2 0;100;0 8.355 False ENSG00000153956 ENSG00000153956 HGNC:1399 CAMSAP1 gene CAMSAP1 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316 36283405 False 2 100;0;0 8.355 False ENSG00000130559 ENSG00000130559 HGNC:19946 CCDC88A gene CCDC88A Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?PEHO syndrome-like 617507 26917597;30392057 False 2 0;100;0 8.355 False ENSG00000115355 ENSG00000115355 HGNC:25523 CCDC88C gene CCDC88C Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature;Literature Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spinocerebellar ataxia 40 616053 AD;Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR 23042809;21031079 False 2 33;67;0 8.355 False ENSG00000015133 ENSG00000015133 HGNC:19967 CDC42BPB gene CDC42BPB Expert Review Amber;Literature Epilepsy - early onset or syndromic Unknown CDC42BPB-related Neurodevelopmental Disorder;Central hypotonia;Global developmental delay;Intellectual disability;Seizures;Autistic behavior;Behavioral abnormality 32031333 False 2 0;100;0 8.355 False ENSG00000198752 ENSG00000198752 HGNC:1738 CLCN7 gene CLCN7 Literature;Expert Review Amber Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 31155284 False 2 0;100;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000103249 ENSG00000103249 HGNC:2025 CLN6 gene CLN6 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6, 601780;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 21549341;31029456;31216804;30561534 False 2 0;33;67 8.355 False ENSG00000128973 ENSG00000128973 HGNC:2077 CNOT9 gene CNOT9 Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted epilepsy, MONDO:0005027 37092538 False 2 100;0;0 8.355 False ENSG00000144580 ENSG00000144580 HGNC:10445 COA3 gene COA3 Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ostergaard et al., 2015, J. Med. Genet., 52, 203-207. False 2 50;50;0 8.355 False ENSG00000183978 ENSG00000183978 HGNC:24990 COASY gene COASY Expert Review Amber;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6, 615643;Pontocerebellar hypoplasia, type 12, 618266 30089828;27021474;36495139 False 2 0;100;0 8.355 False ENSG00000068120 ENSG00000068120 HGNC:29932 COG3 gene COG3 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, OMIM:620546 37711075 False 2 0;100;0 8.355 False ENSG00000136152 ENSG00000136152 HGNC:18619 COG3 gene COG3 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, OMIM:620546 37711075 False 2 0;100;0 8.355 False ENSG00000136152 ENSG00000136152 HGNC:18619 COG4 gene COG4 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIj, OMIM:613489 False 2 0;100;0 8.355 False ENSG00000103051 ENSG00000103051 HGNC:18620 COG6 gene COG6 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iil 614576 20605848 False 2 0;100;0 8.355 False ENSG00000133103 ENSG00000133103 HGNC:18621 COG8 gene COG8 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIh 611182 28619360;17220172;17331980 False 2 0;100;0 8.355 False ENSG00000213380 ENSG00000213380 HGNC:18623 COL4A3BP gene COL4A3BP Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 34, OMIM:616351 25533962;33347465;34688657;36976648;37892645 False 2 100;0;0 8.355 False ENSG00000113163 ENSG00000113163 HGNC:2205 COLGALT1 gene COLGALT1 Literature;Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Brain small vessel disease 3, OMIM:618360 30412317;33709034;31759980 False 2 100;0;0 8.355 False ENSG00000130309 ENSG00000130309 HGNC:26182 COQ6 gene COQ6 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6, 614650 False 2 0;100;0 8.355 False ENSG00000119723 ENSG00000119723 HGNC:20233 COX10 gene COX10 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 False 2 0;100;0 8.355 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX11 gene COX11 Expert Review Amber;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275;Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 36030551;38068960 False 2 0;50;50 8.355 False ENSG00000166260 ENSG00000166260 HGNC:2261 COX15 gene COX15 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 21412973;12474143;15863660;15235026 False 2 0;100;0 8.355 False ENSG00000014919 ENSG00000014919 HGNC:2263 COX4I2 gene COX4I2 Expert Review Amber;London North GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714 27604308;19268275;22592081 False 2 50;0;50 8.355 False ENSG00000131055 ENSG00000131055 HGNC:16232 COX5A gene COX5A Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064;Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 28247525;35246835 False 2 50;50;0 8.355 False ENSG00000178741 ENSG00000178741 HGNC:2267 CPSF3 gene CPSF3 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures, OMIM:619876 35121750 False 2 0;100;0 8.355 False ENSG00000119203 ENSG00000119203 HGNC:2326 CRELD1 gene CRELD1 Expert Review Amber;Expert Review Epilepsy - early onset or syndromic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Atrioventricular septal defect, partial, with heterotaxy syndrome, OMIM:606217;{Atrioventricular septal defect, susceptibility to, 2}, OMIM:606217;atrioventricular septal defect, susceptibility to, 2, MONDO:0011650 32437232 False 2 100;0;0 8.355 False Other ENSG00000163703 ENSG00000163703 HGNC:14630 CSNK1G1 gene CSNK1G1 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 24463883;33009664 False 2 0;14;86 8.355 False ENSG00000169118 ENSG00000169118 HGNC:2454 CSTB gene CSTB London North GLH;NHS GMS;Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 27604308 False 2 0;0;0 8.355 False ENSG00000160213 ENSG00000160213 HGNC:2482 CTSF gene CTSF Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 16508006 False 2 0;100;0 8.355 False ENSG00000174080 ENSG00000174080 HGNC:2531 CTSF gene CTSF Expert Review Amber;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362;neuronal ceroid lipofuscinosis 13 MONDO:0014147 23297359;25274848 False 2 100;0;0 8.355 False ENSG00000174080 ENSG00000174080 HGNC:2531 CTU2 gene CTU2 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal seizures;DREAM PL syndrome;Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 31301155 False 2 0;0;0 8.355 False ENSG00000174177 ENSG00000174177 HGNC:28005 CYCS gene CYCS Expert Review Amber Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 4, OMIM:612004 24326104;PMID: 18345000 False 2 67;33;0 8.355 False ENSG00000172115 ENSG00000172115 HGNC:19986 CYP27A1 gene CYP27A1 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700;seizures;photosensitive epilepsy 18227423;22336472;24442603;29484516;2019602 False 2 25;50;25 8.355 False ENSG00000135929 ENSG00000135929 HGNC:2605 DALRD3 gene DALRD3 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Developmental and epileptic encephalopathy 86, # 618910 32427860 False 2 0;100;0 8.355 False ENSG00000178149 ENSG00000178149 HGNC:25536 DCC gene DCC Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 2 28250456 False 2 0;100;0 8.355 False ENSG00000187323 ENSG00000187323 HGNC:2701 DHCR24 gene DHCR24 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Desmosterolosis, 602398 21559050;24961299 False 2 33;67;0 8.355 False ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Emory Genetics Laboratory Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, 270400 24920862;29226552;10807690 False 2 33;67;0 8.355 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHDDS gene DHDDS Expert Review Amber;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 59, OMIM:613861;?Congenital disorder of glycosylation, type 1bb, OMIM:613861 21295282;21295283;27343064 False 2 0;0;0 8.355 False ENSG00000117682 ENSG00000117682 HGNC:20603 DHX16 gene DHX16 Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuromuscular disease and ocular or auditory anomalies with or without seizures 618733 31256877 False 2 0;100;0 8.355 False ENSG00000204560 ENSG00000204560 HGNC:2739 DNAJC5 gene DNAJC5 Expert Review Amber;Other;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350;autosomal dominant Kufs disease;generalized tonic clonic seizures 22978711;29506599;22235333 False 2 0;0;0 8.355 False ENSG00000101152 ENSG00000101152 HGNC:16235 DNAJC6 gene DNAJC6 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Parkinson disease 19b, early-onset, OMIM:615528;Parkinson disease 19a juvenile-onset, OMIM:615528;juvenile onset Parkinson disease 19A, MONDO:0014231 22563501;23211418;26528954;34175496;26703368;33181391;32472658 False 2 40;60;0 8.355 False ENSG00000116675 ENSG00000116675 HGNC:15469 DPM2 gene DPM2 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, OMIM:615042 23109149;26453362 False 2 33;67;0 8.355 True ENSG00000136908 ENSG00000136908 HGNC:3006 EDEM3 gene EDEM3 Expert Review Amber;Other Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 2V, OMIM:619493 34143952 False 2 100;0;0 8.355 False ENSG00000116406 ENSG00000116406 HGNC:16787 EFHC1 gene EFHC1 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Expert list;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Epilepsy, juvenile absence, susceptibility to, 1} 607631;{Myoclonic epilepsy, juvenile, susceptibility to, 1} 254770 17159113;18505993;15258581;19147686;28370826;29750216;31056551 False 2 17;17;67 8.355 True ENSG00000096093 ENSG00000096093 HGNC:16406 EHHADH gene EHHADH Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Fanconi renotubular syndrome 3, OMIM:615605;L-bifunctional protein deficiency;Metabolic acidosis;Increased amino acids in urine 24401050;27160910;33340416 False 2 0;100;0 8.355 False ENSG00000113790 ENSG00000113790 HGNC:3247 EIF2AK2 gene EIF2AK2 Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877 32197074 False 2 0;0;0 8.355 False ENSG00000055332 ENSG00000055332 HGNC:9437 EIF4A2 gene EIF4A2 Expert Review Amber;Literature Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder 36528028 False 2 100;0;0 8.355 False ENSG00000156976 ENSG00000156976 HGNC:3284 EMX2 gene EMX2 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schizencephaly, 269160 8528262;9359037 False 2 40;60;0 8.355 False ENSG00000170370 ENSG00000170370 HGNC:3341 ERAL1 gene ERAL1 Expert list;Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 6, 617565 28449065 False 2 0;0;0 8.355 False ENSG00000132591 ENSG00000132591 HGNC:3424 ESAM gene ESAM Expert Review;Literature;Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371 36996813 False 2 100;0;0 8.355 False ENSG00000149564 ENSG00000149564 HGNC:17474 EXOC7 gene EXOC7 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Brain atrophy;Seizures;Developmental delay;Microcephaly 32103185 False 2 0;0;0 8.355 False ENSG00000182473 ENSG00000182473 HGNC:23214 FAM50A gene FAM50A Expert Review Amber;Literature Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation syndrome, X-linked, Armfield type, OMIM:300261;Armfield syndrome, MONDO:0010284 32703943 False 2 0;100;0 8.355 False ENSG00000071859 ENSG00000071859 HGNC:18786 FDFT1 gene FDFT1 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Squalene synthase deficiency, 618156 29909962 False 2 50;50;0 8.355 False ENSG00000079459 ENSG00000079459 HGNC:3629 FH gene FH Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency, OMIM:606812 2314594;10805328;20301679;20549362;15221078;16151915 False 2 50;50;0 8.355 False ENSG00000091483 ENSG00000091483 HGNC:3700 FKRP gene FKRP Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153;seizures;Walker-warburg syndrome or muscle-eye-brain disease;Muscular dystrophy, congenital, 1c 14652796;23420653;11741828;11592034 False 2 33;33;33 8.355 False ENSG00000181027 ENSG00000181027 HGNC:17997 FUK gene FUK Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Expert Review;Expert Review Amber;Expert Review;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324;congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777 30503518 False 2 0;100;0 8.355 False ENSG00000157353 ENSG00000157353 HGNC:29500 FUK gene FUK Expert list;Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324;congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777 30503518 False 2 0;100;0 8.355 False ENSG00000157353 ENSG00000157353 HGNC:29500 GATC gene GATC Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 42, OMIM:618839 30283131 False 2 0;100;0 8.355 False ENSG00000257218 ENSG00000257218 HGNC:25068 GCH1 gene GCH1 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, B, 233910;seizures 7869202;17407085;12552057;7730309;31202265;18276179 False 2 33;67;0 8.355 False ENSG00000131979 ENSG00000131979 HGNC:4193 GFM1 gene GFM1 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 1 609060 25852744;26937387;28216230;23430926;21986555;21119709 False 2 0;100;0 8.355 False ENSG00000168827 ENSG00000168827 HGNC:13780 GLI3 gene GLI3 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic False 2 0;67;33 8.355 False ENSG00000106571 ENSG00000106571 HGNC:4319 GLRA1 gene GLRA1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Expert Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia, hereditary 1, 149400;Hyperekplexia;developmental delay;infantile spasms and generalized tonic-clonic seizures 29602144;13594585;1352015 False 2 0;43;57 8.355 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLS gene GLS Expert Review Amber;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 71, OMIM:618328 30575854 False 2 0;100;0 8.355 False ENSG00000115419 ENSG00000115419 HGNC:4331 GLYCTK gene GLYCTK Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal D-glyceric aciduria 220120 3588091;30637540;28462797;20949620;28190537 False 2 33;67;0 8.355 False ENSG00000168237 ENSG00000168237 HGNC:24247 GPIHBP1 gene GPIHBP1 Expert Review Amber;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperlipoproteinemia, type 1D OMIM:615947;hyperlipoproteinemia, type 1D MONDO:0014412 False 2 100;0;0 8.355 False ENSG00000182851 ENSG00000277494 HGNC:24945 GRN gene GRN London North GLH;NHS GMS;Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal "Ceroid lipofuscinosis, neuronal, 11 OMIM:614706;neuronal ceroid lipofuscinosis 11 MONDO:0013866" 22608501;27021778;28000352;28404863;30922528;31855245 False 2 67;33;0 8.355 False ENSG00000030582 ENSG00000030582 HGNC:4601 GSS gene GSS Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glutathione synthetase deficiency 266130; Hemolytic anemia due to glutathione synthetase deficiency 231900 26984560;11445798;15990954;26669244 False 2 33;67;0 8.355 False ENSG00000100983 ENSG00000100983 HGNC:4624 GSTZ1 gene GSTZ1 Expert Review Amber;Eligibility statement prior genetic testing;Expert Review;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal [Maleylacetoacetate isomerase deficiency], OMIM:617596 27876694 False 2 100;0;0 8.355 False ENSG00000100577 ENSG00000100577 HGNC:4643 GTPBP3 gene GTPBP3 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 23, 616198 25434004 False 2 67;33;0 8.355 True ENSG00000130299 ENSG00000130299 HGNC:14880 GUF1 gene GUF1 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Epileptic encephalopathy, early infantile, 40, 617065 26486472 False 2 0;100;0 8.355 False ENSG00000151806 ENSG00000151806 HGNC:25799 HCCS gene HCCS Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Linear skin defects with multiple congenital anomalies 1, 309801 17033964 False 2 33;33;33 8.355 False ENSG00000004961 ENSG00000004961 HGNC:4837 HEATR5B gene HEATR5B Literature;Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia, MONDO:0020135;intellectual disability, MONDO:0001071;seizures 33824466 False 2 0;100;0 8.355 False ENSG00000008869 ENSG00000008869 HGNC:29273 HECTD4 gene HECTD4 Expert Review Amber;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250 36401616 False 2 100;0;0 8.355 False ENSG00000173064 ENSG00000173064 HGNC:26611 HLCS gene HLCS Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency, 253270 22027809;27114915 False 2 14;29;57 8.355 False ENSG00000159267 ENSG00000159267 HGNC:4976 HOXA1 gene HOXA1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Athabaskan brainstem dysgenesis syndrome, 601536;Bosley-Salih-Alorainy syndrome, 601536 18412118;12833395 False 2 0;67;33 8.355 False ENSG00000105991 ENSG00000105991 HGNC:5099 HPRT1 gene HPRT1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome, OMIM:300322 False 2 0;67;33 8.355 False ENSG00000165704 ENSG00000165704 HGNC:5157 HSD17B10 gene HSD17B10 Expert Review Amber;Literature Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) HSD10 mitochondrial disease, OMIM:300438 12872843;22132097;26950678;27295195;34765396 False 2 100;0;0 8.355 False ENSG00000072506 ENSG00000072506 HGNC:4800 HSPA9 gene HSPA9 Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Even-plus syndrome, OMIM:616854 26598328;32869452;35779070;36052765 False 2 100;0;0 8.355 False ENSG00000113013 ENSG00000113013 HGNC:5244 HSPD1 gene HSPD1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 4, OMIM:612233 18571143;30083362 False 2 33;33;33 8.355 False ENSG00000144381 ENSG00000144381 HGNC:5261 ISPD gene ISPD Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643;Walker-Warburg syndrome 24120487 False 2 33;67;0 8.355 False ENSG00000214960 ENSG00000214960 HGNC:37276 JAKMIP1 gene JAKMIP1 Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, MONDO:0001071;seizures 29158550;26627310;27799067 False 2 0;100;0 8.355 False ENSG00000152969 ENSG00000152969 HGNC:26460 KATNB1 gene KATNB1 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534 25521378;25521379;26640080 False 2 50;0;50 8.355 False ENSG00000140854 ENSG00000140854 HGNC:6217 KCNA1 gene KCNA1 Expert Review Amber;North West GLH;Wessex and West Midlands GLH;NHS GMS;Expert Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia/ myokymia syndrome, OMIM:160120;epilepsy, MONDO:0005027 29056246;11026449;9581771;24578548;30055040;31586945;32316562;34778950 False 2 29;0;71 8.355 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNA3 gene KCNA3 Expert Review Amber;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 37964487 False 2 100;0;0 8.355 False ENSG00000177272 ENSG00000177272 HGNC:6221 KCNH5 gene KCNH5 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert list Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 112, OMIM:620537 23647072;35874597;36307226;24133262 False 2 40;20;40 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000140015 ENSG00000140015 HGNC:6254 KDM6B gene KDM6B Expert Review Amber;NHS GMS Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, OMIM:618505;neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, MONDO:0032790 37196654 False 2 100;0;0 8.355 False ENSG00000132510 ENSG00000132510 HGNC:29012 KIF1BP gene KIF1BP Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;UKGTN Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Goldberg-Shprintzen megacolon syndrome 609460 15883926;28277559 False 2 67;33;0 8.355 True ENSG00000198954 ENSG00000198954 HGNC:23419 LARGE1 gene LARGE1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 24709677 False 2 33;67;0 8.355 False ENSG00000133424 ENSG00000133424 HGNC:6511 LDHD gene LDHD Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal D-lactic aciduria with susceptibility to gout, OMIM:245450;lactic aciduria due to D-lactic acid, MONDO:0009505 30931947;31638601;34258137;37021930 False 2 50;50;0 8.355 False ENSG00000166816 ENSG00000166816 HGNC:19708 LETM1 gene LETM1 Expert Review Amber;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214;33815143 False 2 100;0;0 8.355 False ENSG00000168924 ENSG00000168924 HGNC:6556 LIPC gene LIPC Expert Review Amber;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hepatic lipase deficiency, 614025;[High density lipoprotein cholesterol level QTL 12] 612797;{Diabetes mellitus, noninsulin-dependent} 125853 27604308;1671786;12777476;22464213;23219720 False 2 0;0;0 8.355 False ENSG00000166035 ENSG00000166035 HGNC:6619 LIPT1 gene LIPT1 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Lipoyltransferase 1 deficiency 616299 24341803;29681092;31042466;24256811;27247813 False 2 0;100;0 8.355 False ENSG00000144182 ENSG00000144182 HGNC:29569 LIPT2 gene LIPT2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 617668 28757203;28803783 False 2 0;67;33 8.355 False ENSG00000175536 ENSG00000175536 HGNC:37216 LMAN2L gene LMAN2L Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Epilepsy 31020005;26566883 False 2 0;100;0 8.355 False ENSG00000114988 ENSG00000114988 HGNC:19263 LMF1 gene LMF1 Expert Review Amber;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Lipase deficiency, combined OMIM:246650;lipase deficiency, combined MONDO:0009527 17994020;19820022;30885219;30420299;29910226;22239554 False 2 100;0;0 8.355 False ENSG00000103227 ENSG00000103227 HGNC:14154 LMNB1 gene LMNB1 Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microcephaly 26, primary, autosomal dominant, OMIM:619179 32910914;33033404 False 2 0;100;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000113368 ENSG00000113368 HGNC:6637 LNPK gene LNPK Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 618090 30032983 False 2 0;100;0 8.355 False ENSG00000144320 ENSG00000144320 HGNC:21610 LSS gene LSS Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Expert Review;Expert Review Amber;Expert Review;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Alopecia;Abnormality of the skin;Microcephaly;Cataract 44, 616509, Hypotrichosis 14, 618275;Seizures;Abnormality of the genital system;Hypotonia;Intellectual disability;Global developmental delay 30723320;26200341;30401459;29016354 False 2 0;100;0 8.355 False ENSG00000160285 ENSG00000160285 HGNC:6708 LYST gene LYST Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome 214500 False 2 33;67;0 8.355 True ENSG00000143669 ENSG00000143669 HGNC:1968 MAN2B2 gene MAN2B2 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal congenital disorder of glycosylation, MONDO:0015286 31775018;35637269 False 2 0;100;0 8.355 False ENSG00000013288 ENSG00000013288 HGNC:29623 MANBA gene MANBA Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic False 2 0;100;0 8.355 False ENSG00000109323 ENSG00000109323 HGNC:6831 MAST1 gene MAST1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures;Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures 30449657;23934111 False 2 33;33;33 8.355 False ENSG00000105613 ENSG00000105613 HGNC:19034 MAST4 gene MAST4 Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, MAST4-related 36910266;33057194 False 2 100;0;0 8.355 False ENSG00000069020 ENSG00000069020 HGNC:19037 MED17 gene MED17 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668 26004231;20950787;30345598 False 2 20;60;20 8.355 False ENSG00000042429 ENSG00000042429 HGNC:2375 MRM2 gene MRM2 Expert Review Amber;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial DNA depletion syndrome 17, OMIM:618567 28973171;36002240 False 2 100;0;0 8.355 False ENSG00000122687 ENSG00000122687 HGNC:16352 MRPS14 gene MRPS14 Expert list;Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 38, OMIM:618378 30358850 False 2 0;0;0 8.355 False ENSG00000120333 ENSG00000120333 HGNC:14049 MRPS16 gene MRPS16 Expert Review Amber;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2 610498 27604308;28749478;15505824 False 2 33;33;33 8.355 False ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS7 gene MRPS7 Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 25556185 False 2 50;0;50 8.355 False ENSG00000125445 ENSG00000125445 HGNC:14499 MTR gene MTR Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cblG complementation type, 250940;methionine synthase deficiency type cblG;seizures 25526710;9453374;12068375;9683607;28666289 False 2 33;67;0 8.355 False ENSG00000116984 ENSG00000116984 HGNC:7468 MT-RNR2 gene MT-RNR2 Expert Review Amber Epilepsy - early onset or syndromic MITOCHONDRIAL False 2 50;50;0 8.355 False ENSG00000210082 ENSG00000210082 HGNC:7471 MT-TT gene MT-TT Expert Review Amber Epilepsy - early onset or syndromic MITOCHONDRIAL False 2 50;50;0 8.355 False ENSG00000210195 ENSG00000210195 HGNC:7499 NCDN gene NCDN Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability;epilepsy 33711248 False 2 0;100;0 8.355 False ENSG00000020129 ENSG00000020129 HGNC:17597 NDP gene NDP Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic False 2 0;67;33 8.355 False ENSG00000124479 ENSG00000124479 HGNC:7678 NDUFA2 gene NDUFA2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency 256000 28857146;18513682 False 2 0;100;0 8.355 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFAF3 gene NDUFAF3 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 19463981 False 2 33;67;0 8.355 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 15, 618237 19463981;28853723 False 2 0;100;0 8.355 False ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFB7 gene NDUFB7 Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 33502047;27626371 False 2 0;100;0 8.355 False ENSG00000099795 ENSG00000099795 HGNC:7702 NDUFB9 gene NDUFB9 Expert Review Amber;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex I deficiency, nuclear type 24 618245 22200994 False 2 100;0;0 8.355 False ENSG00000147684 ENSG00000147684 HGNC:7704 NDUFS1 gene NDUFS1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 11349233;20382551;25615419 False 2 33;67;0 8.355 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 23266820;22036843;20819849;11220739;14749350 False 2 33;67;0 8.355 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS6 gene NDUFS6 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 15372108;19259137;27290639 False 2 33;67;0 8.355 False ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 3, 618224 10330338;17604671;17275378;15269216 False 2 0;100;0 8.355 False ENSG00000115286 ENSG00000115286 HGNC:7714 NECAP1 gene NECAP1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 21, 615833;Early onset epileptic encephalopathy (EOEE) 24399846;30525121;30626896 False 2 12;25;62 8.355 False ENSG00000089818 ENSG00000089818 HGNC:24539 NSF gene NSF Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 96, OMIM:619340 31675180;36645181 False 2 0;100;0 8.355 False ENSG00000073969 ENSG00000073969 HGNC:8016 NUBPL gene NUBPL Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 20818383;23553477 False 2 33;67;0 8.355 False ENSG00000151413 ENSG00000151413 HGNC:20278 NUS1 gene NUS1 Expert Review Amber Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 55, with seizures, OMIM:617831;?Congenital disorder of glycosylation, type 1aa, OMIM:617082 25066056;31656175;32334381;32485575;33731878 False 2 67;33;0 8.355 False ENSG00000153989 ENSG00000153989 HGNC:21042 OPLAH gene OPLAH Expert Review Amber;London North GLH;NHS GMS Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal 5-oxoprolinase deficiency 260005 27604308;21651516;23430506;27477828 False 2 0;0;0 8.355 False ENSG00000178814 ENSG00000178814 HGNC:8149 OTX2 gene OTX2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic False 2 0;100;0 8.355 False ENSG00000165588 ENSG00000165588 HGNC:8522 PABPC1 gene PABPC1 Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Expressive language delay;Intellectual disability;Behavioral abnormality;Seizures 35511136 False 2 50;50;0 8.355 False ENSG00000070756 ENSG00000070756 HGNC:8554 PARP6 gene PARP6 Literature;Expert Review Amber Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Epilepsy;Microcephaly 34067418 False 2 100;0;0 8.355 False ENSG00000137817 ENSG00000137817 HGNC:26921 PDSS2 gene PDSS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic False 2 0;67;33 8.355 False ENSG00000164494 ENSG00000164494 HGNC:23041 PET117 gene PET117 Expert list;Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063 28386624 False 2 0;0;0 8.355 False ENSG00000232838 ENSG00000232838 HGNC:40045 PEX1 gene PEX1 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1A (Zellweger) 214100;Peroxisome biogenesis disorder 1B (NALD/IRD) 601539;Adrenoleukodystrophy 12402331;26387595;9398847;15098231;15301838;21844578;28432012;16141001 False 2 33;67;0 8.355 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger) 614870 20695019;28784167 False 2 33;67;0 8.355 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX12 gene PEX12 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger) 614859 9090384;9354782 False 2 0;100;0 8.355 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger) 614883 10332040;19449432 False 2 67;33;0 8.355 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX19 gene PEX19 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger) 614886 10051604;20683989 False 2 67;33;0 8.355 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger) 614866 1546315;14630978;14630978 False 2 67;33;0 8.355 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX3 gene PEX3 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger) 614882 10958759;28673549 False 2 67;33;0 8.355 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger) 214110;Peroxisome biogenesis disorder 2B 202370;Rhizomelic chondrodysplasia punctata, type 5 616716 7719337;26220973 False 2 33;67;0 8.355 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) 614862;Peroxisome biogenesis disorder 4B 614863 8670792;8940266;10408779 False 2 67;33;0 8.355 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 1 215100 12325024;9090381;11781871;10083738 False 2 0;100;0 8.355 False ENSG00000112357 ENSG00000112357 HGNC:8860 PIGM gene PIGM Expert Review Amber;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol deficiency, OMIM:610293 27604308;16767100;25293775;17442906;31445883 False 2 67;0;33 8.355 False ENSG00000143315 ENSG00000143315 HGNC:18858 PIGM gene PIGM London North GLH;Expert Review Amber;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol deficiency, OMIM:610293 27604308;16767100;25293775;17442906;31445883 False 2 67;0;33 8.355 False ENSG00000143315 ENSG00000143315 HGNC:18858 PIGS gene PIGS Expert Review Amber;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 18 618143 30269814 False 2 100;0;0 8.355 False ENSG00000087111 ENSG00000087111 HGNC:14937 PIP5K1C gene PIP5K1C Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 37451268 False 2 100;0;0 8.355 False ENSG00000186111 ENSG00000186111 HGNC:8996 PITRM1 gene PITRM1 Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal mental retardation, spinocerebellar ataxia, cognitive decline and psychosis 26697887;29383861;29764912 False 2 100;0;0 8.355 False ENSG00000107959 ENSG00000107959 HGNC:17663 PLA2G6 gene PLA2G6 Expert Review Amber;Other;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Infantile neuroaxonal dystrophy 1, OMIM:256600;neurodegeneration with brain iron accumulation 2A, MONDO:0024457;Neurodegeneration with brain iron accumulation 2B, OMIM:610217;neurodegeneration with brain iron accumulation 2B, MONDO:0012444;Parkinson disease 14, autosomal recessive, OMIM:612953;autosomal recessive Parkinson disease 14, MONDO:0013060 30340910;27513994;30772976 False 2 100;0;0 8.355 False ENSG00000184381 ENSG00000184381 HGNC:9039 POLG2 gene POLG2 Expert Review Amber;Literature Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528;Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 31286721;27592148;30157269;21555342 False 2 0;100;0 8.355 False ENSG00000256525 ENSG00000256525 HGNC:9180 POMT2 gene POMT2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 22700954 False 2 33;33;33 8.355 False ENSG00000009830 ENSG00000009830 HGNC:19743 PPP1R3F gene PPP1R3F Literature;Expert Review Amber Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 37531237 False 2 100;0;0 8.355 False ENSG00000049769 ENSG00000049769 HGNC:14944 PRODH gene PRODH Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type I, OMIM:239500;hyperprolinemia type 1, MONDO:0009400 12217952;17412540;18197084 False 2 33;67;0 8.355 False ENSG00000100033 ENSG00000100033 HGNC:9453 PSAT1 gene PSAT1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic False 2 0;67;33 8.355 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSPH gene PSPH London North GLH;NHS GMS;Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency 614023 27604308;24816252 False 2 0;100;0 8.355 False ENSG00000146733 ENSG00000146733 HGNC:9577 PSPH gene PSPH Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency 614023 25080166;26589312;14673469 False 2 0;67;33 8.355 False ENSG00000146733 ENSG00000146733 HGNC:9577 PTCD3 gene PTCD3 Expert Review Amber;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 51, OMIM:619057;combined oxidative phosphorylation deficiency 51, MONDO:0033631 30607703;30706245;36450274 False 2 100;0;0 8.355 False ENSG00000132300 ENSG00000132300 HGNC:24717 PTCD3 gene PTCD3 Expert Review Amber;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 51, OMIM:619057;combined oxidative phosphorylation deficiency 51, MONDO:0033631 30607703;30706245;36450274 False 2 100;0;0 8.355 False ENSG00000132300 ENSG00000132300 HGNC:24717 PTF1A gene PTF1A Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pancreatic and cerebellar agenesis, 609069 21749365;15543146;19650412 False 2 0;100;0 8.355 False ENSG00000168267 ENSG00000168267 HGNC:23734 QARS gene QARS Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 28620870;25471517;25432320;25041233;24656866 False 2 50;50;0 8.355 False ENSG00000172053 ENSG00000172053 HGNC:9751 QDPR gene QDPR Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, C, 261630;DHPR deficiency 9341885;26006720;25667865 False 2 33;67;0 8.355 False ENSG00000151552 ENSG00000151552 HGNC:9752 RAB11A gene RAB11A Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay, HP:0001263;Intellectual disability, HP:0001249;seizures 29100083;33875846 False 2 0;0;0 8.355 False ENSG00000103769 ENSG00000103769 HGNC:9760 RAB3GAP1 gene RAB3GAP1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic False 2 0;67;33 8.355 False ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome 1, OMIM:212720;Warburg micro syndrome 2, OMIM:614225 False 2 0;100;0 8.355 False ENSG00000118873 ENSG00000118873 HGNC:17168 RAB5C gene RAB5C Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, RAB5C-related 37552066 False 2 100;0;0 8.355 False ENSG00000108774 ENSG00000108774 HGNC:9785 RANBP2 gene RANBP2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033 False 2 25;50;25 8.355 False ENSG00000153201 ENSG00000153201 HGNC:9848 RANBP2 gene RANBP2 Expert Review Amber;London North GLH;NHS GMS Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acute necrotizing encephalopathy (Other metabolic disorders) 27604308 False 2 100;0;0 8.355 False ENSG00000153201 ENSG00000153201 HGNC:9848 RNASET2 gene RNASET2 London North GLH;NHS GMS;Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism);Inherited white matter disorders 27604308 False 2 0;100;0 8.355 False ENSG00000026297 ENSG00000026297 HGNC:21686 RNF2 gene RNF2 Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown epilepsy;intellectual disability;intrauterine growth retardation 33864376 False 2 0;100;0 8.355 False ENSG00000121481 ENSG00000121481 HGNC:10061 RNU4ATAC gene RNU4ATAC Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type I 210710 21474761;23794361;22786707 False 2 33;33;33 8.355 False ENSG00000264229 ENSG00000264229 HGNC:34016 RPIA gene RPIA Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Ribose 5-phosphate isomerase deficiency, OMIM:608611 14988808;20499043;28801340;30088433 False 2 0;67;33 8.355 False ENSG00000153574 ENSG00000153574 HGNC:10297 RRM2B gene RRM2B Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075;seizures;status epilepticus 28482374;29241262;19138848;17486094 False 2 50;50;0 8.355 True ENSG00000048392 ENSG00000048392 HGNC:17296 RUSC2 gene RUSC2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic Mental retardation, autosomal recessive 61 617773 27612186 False 2 0;75;25 8.355 False ENSG00000198853 ENSG00000198853 HGNC:23625 RYR1 gene RYR1 Expert Review Amber Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Rhabdomyolysis and metabolic muscle disorders False 2 0;100;0 8.355 False ENSG00000196218 ENSG00000196218 HGNC:10483 RYR2 gene RYR2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ventricular tachycardia, catecholaminergic polymorphic, 1 604772 18483626;29667327;11208676;12093772;11157710;33897349 False 2 25;50;25 8.355 False ENSG00000198626 ENSG00000198626 HGNC:10484 SAMD12 gene SAMD12 Expert Review Amber;Literature Epilepsy - early onset or syndromic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Epilepsy, familial adult myoclonic, 1, OMIM:601068;epilepsy, familial adult myoclonic, 1, MONDO:0010985 30194086;29507423;29939203;32203200;30351492 False 2 50;50;0 8.355 False Other ENSG00000177570 ENSG00000177570 HGNC:31750 SCO1 gene SCO1 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 23878101;11013136;19295170;15023375 False 2 33;67;0 8.355 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 10545952;10749987;18924171;15210538 False 2 33;67;0 8.355 False ENSG00000130489 ENSG00000130489 HGNC:10604 SDHA gene SDHA Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 256000;Mitochondrial respiratory chain complex II deficiency 252011 24367056;16361598 False 2 33;67;0 8.355 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF2 gene SDHAF2 London North GLH;NHS GMS;Expert Review Amber Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mitochondrial Diseases;Isolated complex II deficiency;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Neuro-endocrine Tumours- PCC and PGL;Multiple endocrine tumours;Multiple Tumours 27604308 False 2 33;33;33 8.355 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHC gene SDHC London North GLH;NHS GMS;Expert Review Amber Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mitochondrial Diseases;Isolated complex II deficiency;Neuro-endocrine Tumours- PCC and PGL;Multiple endocrine tumours;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Multiple Tumours 27604308 False 2 50;50;0 8.355 False ENSG00000143252 ENSG00000143252 HGNC:10682 SHQ1 gene SHQ1 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Dystonia 35, childhood-onset, OMIM:619921;dystonia 35, childhood-onset, MONDO:0030958;Neurodevelopmental disorder with dystonia and seizures, OMIM:619922;neurodevelopmental disorder with dystonia and seizures, MONDO:0859258 34542157;29178645;36810590;36847845;36416405;37475611;36189577 False 2 50;50;0 8.355 False ENSG00000144736 ENSG00000144736 HGNC:25543 SIX3 gene SIX3 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 2 157170;Schizencephaly 269160 28670735;20157829;19346217;18791198 False 2 33;67;0 8.355 False ENSG00000138083 ENSG00000138083 HGNC:10889 SLC31A1 gene SLC31A1 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092 35913762;36562171 False 2 0;100;0 8.355 False ENSG00000136868 ENSG00000136868 HGNC:11016 SLC31A1 gene SLC31A1 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092;Epilepsy, MONDO:0005027 35913762;36562171 False 2 0;100;0 8.355 False ENSG00000136868 ENSG00000136868 HGNC:11016 SLC35A1 gene SLC35A1 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIf, 603585;seizures 23873973;15576474;28856833;30115659;28856833 False 2 25;75;0 8.355 False ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A3 gene SLC35A3 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Arthrogryposis, mental retardation, and seizures (MIM 615553);Early onset epileptic encephalopathy with skeletal defects 24031089;28328131;28777481;16344554 False 2 25;50;25 8.355 False ENSG00000117620 ENSG00000117620 HGNC:11023 SLC45A1 gene SLC45A1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with neuropsychiatric features 617532 28434495;27431290 False 2 0;100;0 8.355 False ENSG00000162426 ENSG00000162426 HGNC:17939 SNF8 gene SNF8 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 38423010 False 2 0;100;0 8.355 False ENSG00000159210 ENSG00000159210 HGNC:17028 SNX27 gene SNX27 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Generalized hypotonia;Global developmental delay;Intellectual disability;Seizures 25894286;31721175;21300787;23524343 False 2 25;75;0 8.355 False ENSG00000143376 ENSG00000143376 HGNC:20073 SPR gene SPR Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 16650784;21431957;28189489 False 2 25;75;0 8.355 False ENSG00000116096 ENSG00000116096 HGNC:11257 SPTBN4 gene SPTBN4 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519 28540413;28940097;29861105;31230720;31857255 False 2 100;0;0 8.355 False ENSG00000160460 ENSG00000160460 HGNC:14896 SSR3 gene SSR3 Literature;Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation 30945312 False 2 0;100;0 8.355 False ENSG00000114850 ENSG00000114850 HGNC:11325 STARD7 gene STARD7 Expert Review Amber;Other;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial adult myoclonic, 2, 607876;Familial adult myoclonic epilepsy-2;FAME-2 11701600;24114805;31664034 False 2 0;0;0 8.355 False ENSG00000084090 ENSG00000084090 HGNC:18063 STAT2 gene STAT2 Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 44 616636;elongated mitochondria;severe neurological deterioration following viral infection PMID: 26122121 False 2 75;0;25 8.355 False ENSG00000170581 ENSG00000170581 HGNC:11363 SUCLG1 gene SUCLG1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 28358460;27143079;26028457;27484306 False 2 33;67;0 8.355 False ENSG00000163541 ENSG00000163541 HGNC:11449 SYNCRIP gene SYNCRIP Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Autism;Myoclonic atonic seizures;Abnormality of nervous system morphology 34157790;30504930;27479843;23020937 False 2 0;100;0 8.355 False ENSG00000135316 ENSG00000135316 HGNC:16918 TANC2 gene TANC2 Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with autistic features and language delay, with or without seizures, 618906 31616000 False 2 0;0;0 8.355 False ENSG00000170921 ENSG00000170921 HGNC:30212 TBC1D20 gene TBC1D20 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 4, 615663;seizures 24239381 False 2 33;67;0 8.355 False ENSG00000125875 ENSG00000125875 HGNC:16133 TEFM gene TEFM Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 58, OMIM:620451 36823193 False 2 50;50;0 8.355 False ENSG00000172171 ENSG00000172171 HGNC:26223 TELO2 gene TELO2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Expert Review;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal You-Hoover-Fong syndrome 616954 27132593;28944240 False 2 0;100;0 8.355 False ENSG00000100726 ENSG00000100726 HGNC:29099 TET3 gene TET3 NHS GMS;Expert Review Amber;Literature Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Beck-Fahrner syndrome OMIM:618798 31928709 False 2 33;67;0 8.355 False ENSG00000187605 ENSG00000187605 HGNC:28313 TKFC gene TKFC Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Triokinase and FMN cyclase deficiency syndrome, 618805 32004446 False 2 0;100;0 8.355 False ENSG00000149476 ENSG00000149476 HGNC:24552 TMEM106B gene TMEM106B Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 16, OMIM:617964;Leukodystrophy, hypomyelinating, 16, MONDO:0054791 29186371;29444210;32595021 False 2 0;100;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000106460 ENSG00000106460 HGNC:22407 TMEM63B gene TMEM63B Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted developmental and epileptic encephalopathy, MONDO:0100062 37421948 False 2 100;0;0 8.355 False ENSG00000137216 ENSG00000137216 HGNC:17735 TMEM65 gene TMEM65 Expert list;Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal TMEM65 related mitochondrial encephalopmyopathy 28295037 False 2 0;0;0 8.355 False ENSG00000164983 ENSG00000164983 HGNC:25203 TMEM70 gene TMEM70 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052;seizures 18953340;21147908;20335238;24485043 False 2 33;67;0 8.355 False ENSG00000175606 ENSG00000175606 HGNC:26050 TNK2 gene TNK2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal severe autosomal recessive infantile onset epilepsy;EE 27977884;23686771 False 2 33;67;0 8.355 False ENSG00000061938 ENSG00000061938 HGNC:19297 TRAF7 gene TRAF7 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Expert Review;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac, facial, and digital anomalies with developmental delay, 618164;Global developmental delay;Abnormal heart morphology;Abnormality of digit;Abnormality of limbs 29961569;27479843;28135719;25363760;25961944 False 2 33;67;0 8.355 True ENSG00000131653 ENSG00000131653 HGNC:20456 TRAPPC11 gene TRAPPC11 Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356;autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144 23830518;26322222;29855340;30105108;26912795;27707803;27862579;28484880 False 2 0;100;0 8.355 False ENSG00000168538 ENSG00000168538 HGNC:25751 TRAPPC6B gene TRAPPC6B Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862 28626029;28397838;31687267 False 2 50;50;0 8.355 True ENSG00000182400 ENSG00000182400 HGNC:23066 TRIP13 gene TRIP13 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 3, 617598 False 2 0;100;0 8.355 False ENSG00000071539 ENSG00000071539 HGNC:12307 TRIT1 gene TRIT1 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 35, OMIM:617873;combined oxidative phosphorylation deficiency 35, MONDO:0054742 28185376;24901367 False 2 0;0;0 8.355 False ENSG00000043514 ENSG00000043514 HGNC:20286 TRRAP gene TRRAP Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Expert Review;Expert Review Amber;Expert Review;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microcephaly;Seizures;Abnormal heart morphology;Autism;Developmental delay with or without dysmorphic facies and autism, 618454;Intellectual disability;Abnormality of the urinary system;Global developmental delay 30827496;28628100 False 2 25;75;0 8.355 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000196367 ENSG00000196367 HGNC:12347 TSEN15 gene TSEN15 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2F, OMIM:617026 25558065;27392077 False 2 25;75;0 8.355 False ENSG00000198860 ENSG00000198860 HGNC:16791 TSEN2 gene TSEN2 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2B, 612389 False 2 33;67;0 8.355 True ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN34 gene TSEN34 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Pontocerebellar hypoplasia type 2C, 612390 18711368;20952379 False 2 0;67;33 8.355 False ENSG00000170892 ENSG00000170892 HGNC:15506 TSFM gene TSFM Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3, 610505;seizures 17033963;21119709 False 2 33;67;0 8.355 False ENSG00000123297 ENSG00000123297 HGNC:12367 TUBA8 gene TUBA8 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 8, 613180;seizures 19896110;27781032;29588952;25008804;27781032;28007376 False 2 0;100;0 8.355 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBB gene TUBB Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 6, 615771 False 2 33;67;0 8.355 False ENSG00000196230 ENSG00000196230 HGNC:20778 TXNRD1 gene TXNRD1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal genetic generalized epilepsy 28232204;18350150 False 2 0;100;0 8.355 False ENSG00000198431 ENSG00000198431 HGNC:12437 U2AF2 gene U2AF2 Literature;Expert Review Amber Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071 28135719;31785789;33057194;34112922;36747105;37092751;37134193 False 2 67;33;0 8.355 False ENSG00000063244 ENSG00000063244 HGNC:23156 UFC1 gene UFC1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Expert Review;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spasticity and poor growth, 618076 29868776;27431290 False 2 33;67;0 8.355 False ENSG00000143222 ENSG00000143222 HGNC:26941 UQCC3 gene UQCC3 Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex III deficiency, nuclear type, 616111;Isolated complex III deficiency 28804536;25008109 False 2 100;0;0 8.355 False ENSG00000204922 ENSG00000204922 HGNC:34399 UQCRC1 gene UQCRC1 Expert Review Amber Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism with polyneuropathy, OMIM:619279 30788857;33141179;33779694;33248804 False 2 0;100;0 8.355 False ENSG00000010256 ENSG00000010256 HGNC:12585 UQCRQ gene UQCRQ Expert Review Amber;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, 615159 18439546;27604308 False 2 100;0;0 8.355 False ENSG00000164405 ENSG00000164405 HGNC:29594 UROC1 gene UROC1 London North GLH;NHS GMS;Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism) 27604308;19304569;30619714 False 2 0;100;0 8.355 False ENSG00000159650 ENSG00000159650 HGNC:26444 USP7 gene USP7 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hao-Fountain syndrome, 616863 19946331;26365382;30679821;33012787 False 2 25;75;0 8.355 True ENSG00000187555 ENSG00000187555 HGNC:12630 VLDLR gene VLDLR Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 27000652;27108886;27251579;16174313;16080122;18326629 False 2 0;100;0 8.355 False ENSG00000147852 ENSG00000147852 HGNC:12698 VPS16 gene VPS16 Expert Review Amber;Other Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis-like syndrome (biallelic);Dystonia Associated with Lysosomal Abnormalities (monoallelic);Dystonia 30, OMIM:619291 33938619;34013567 False 2 100;0;0 8.355 False ENSG00000215305 ENSG00000215305 HGNC:14584 VPS33A gene VPS33A Expert Review Amber;Other Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis-plus syndrome OMIM:617303;mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012 28013294;27547915;31070736 False 2 100;0;0 8.355 False ENSG00000139719 ENSG00000139719 HGNC:18179 VPS50 gene VPS50 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neonatal cholestatic liver disease;Failure to thrive;Profound global developmental delay;Postnatal microcephaly;Seizures;Abnormality of the corpus callosum 34037727 False 2 0;100;0 8.355 False ENSG00000004766 ENSG00000004766 HGNC:25956 WDR62 gene WDR62 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317 21834044;20890278;20729831;28377545;10573015;20890279;30500859 False 2 33;67;0 8.355 True ENSG00000075702 ENSG00000075702 HGNC:24502 XK gene XK Expert Review Amber;Expert list Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) McLeod syndrome with or without chronic granulomatous disease, OMIM:300842;McLeod neuroacanthocytosis syndrome, MONDO:0018945 11761473;30128557;8004674;8619554 False 2 50;50;0 8.355 False ENSG00000047597 ENSG00000047597 HGNC:12811 YIF1B gene YIF1B Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Central hypotonia;Failure to thrive;Microcephaly;Global developmental delay;Intellectual disability;Seizures;Spasticity;Abnormality of movement 32006098 False 2 0;100;0 8.355 False ENSG00000167645 ENSG00000167645 HGNC:30511 YME1L1 gene YME1L1 Expert list;Expert Review Amber Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Optic atrophy 11, 617302 27495975 False 2 0;0;0 8.355 False ENSG00000136758 ENSG00000136758 HGNC:12843 ZBTB47 gene ZBTB47 Expert Review Amber;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092 37743782 False 2 100;0;0 8.355 False ENSG00000114853 ENSG00000114853 HGNC:26955 ZMIZ1 gene ZMIZ1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Expert Review;Expert Review Amber;Expert Review;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Feeding difficulties;Growth abnormality;Microcephaly;Abnormality of the skeletal system;Abnormality of the urinary system;Abnormality of the cardiovascular system;Abnormality of head or neck;Seizures 18053775;27479843;29754769;17967885;26163108 False 2 0;100;0 8.355 False ENSG00000108175 ENSG00000108175 HGNC:16493 ZMYM2 gene ZMYM2 Literature;Expert Review Amber Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522 32891193 False 2 33;67;0 8.355 False ENSG00000121741 ENSG00000121741 HGNC:12989 ZNFX1 gene ZNFX1 Expert Review Amber;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 91 and hyperinflammation, OMIM:619644;immunodeficiency 91 and hyperinflammation, MONDO:0030491 33876776;33872655 False 2 100;0;0 8.355 False ENSG00000124201 ENSG00000124201 HGNC:29271 AARS2 gene AARS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic False 1 0;67;33 8.355 False ENSG00000124608 ENSG00000124608 HGNC:21022 ABCG2 gene ABCG2 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Primary idiopathic gout (Disorders of purine metabolism);[Junior blood group system] 614490;[Uric acid concentration, serum, QTL1] 138900 27604308 False 1 0;0;100 8.355 False ENSG00000118777 ENSG00000118777 HGNC:74 ACAT2 gene ACAT2 Expert Review Red;Literature Epilepsy - early onset or syndromic Unknown ?ACAT2 deficiency, OMIM:614055;Increased serum lactate and pyruvate;High levels of ketones;Low levels of cytosolic acetoacetyl-CoA thiolase;Hypotonia;Severe developmental delay 33340416;20597;6150136 False 1 0;100;0 8.355 False ENSG00000120437 ENSG00000120437 HGNC:94 ADGRV1 gene ADGRV1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;Expert Review Red Epilepsy - early onset or syndromic Febrile seizures, familial, 4, 604352;Usher syndrome, type 2C, 605472;Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 False 1 0;100;0 8.355 False ENSG00000164199 ENSG00000164199 HGNC:17416 ADRA2B gene ADRA2B Expert Review Red;NHS GMS;Wessex and West Midlands GLH Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical myoclonus and epilepsy 11701600;18231815;24114805;31664034 False 1 0;67;33 8.355 False ENSG00000222040 ENSG00000274286 HGNC:282 AGMO gene AGMO Expert Review Red;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal microcephaly;intellectual disability;epilepsy;generalized tonic-clonic seizures 31555905;27000257 False 1 0;100;0 8.355 False ENSG00000187546 ENSG00000187546 HGNC:33784 AKT1 gene AKT1 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Proteus syndrome, somatic 176920 23992099;21793738 False 1 50;25;25 8.355 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000142208 ENSG00000142208 HGNC:391 ALDH1B1 gene ALDH1B1 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Succinic semialdehyde dehydrogenase deficiency False 1 0;100;0 8.355 False ENSG00000137124 ENSG00000137124 HGNC:407 ALG10 gene ALG10 Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Progressive myoclonus epilepsy;CDG 33798445 False 1 0;0;100 8.355 False ENSG00000139133 ENSG00000139133 HGNC:23162 ALG12 gene ALG12 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig 607143 False 1 0;33;67 8.355 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG2 gene ALG2 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation type Ii, 607906;Myasthenic syndrome congenital 14 with tubular aggregates, 616228 12684507 False 1 0;33;67 8.355 False ENSG00000119523 ENSG00000119523 HGNC:23159 AMPD1 gene AMPD1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Myoadenylate deaminase deficiency (Disorders of purine metabolism);Myopathy due to myoadenylate deaminase deficiency 615511 27604308 False 1 50;0;50 8.355 False ENSG00000116748 ENSG00000116748 HGNC:468 AOX1 gene AOX1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Xanthinuria type II (Disorders of purine metabolism) 27604308 False 1 0;0;100 8.355 False ENSG00000138356 ENSG00000138356 HGNC:553 ARSG gene ARSG Expert Review Red Epilepsy - early onset or syndromic Unknown neuronal ceroid lipofuscinosis 26975023;20679209;25452429 False 1 0;0;100 8.355 False ENSG00000141337 ENSG00000141337 HGNC:24102 ASTN1 gene ASTN1 Expert Review Red;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;epilepsy;cortical malformations 29706646;27431290;26539891 False 1 50;0;50 8.355 False ENSG00000152092 ENSG00000152092 HGNC:773 ATAD3B gene ATAD3B Expert Review Red Epilepsy - early onset or syndromic Unknown Influence on AIDS progression;No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000160072 ENSG00000160072 HGNC:24007 ATP5C1 gene ATP5C1 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000165629 ENSG00000165629 HGNC:833 ATP5G1 gene ATP5G1 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000159199 ENSG00000159199 HGNC:841 ATP5G2 gene ATP5G2 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000135390 ENSG00000135390 HGNC:842 ATP5I gene ATP5I Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000169020 ENSG00000169020 HGNC:846 ATP5J gene ATP5J Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000154723 ENSG00000154723 HGNC:847 ATXN7 gene ATXN7 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Other Spinocerebellar ataxia 7, OMIM:164500;Mitochondrial respiratory chain disorders (caused by nuclear variants only) 27604308 False 1 0;0;100 8.355 False ENSG00000163635 ENSG00000163635 HGNC:10560 BCAT1 gene BCAT1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) 27604308 False 1 0;0;100 8.355 False ENSG00000060982 ENSG00000060982 HGNC:976 BCORL1 gene BCORL1 Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability and seizures;Shukla-Vernon syndrome, 301029 30941876;24123876 False 1 0;50;50 8.355 False ENSG00000085185 ENSG00000085185 HGNC:25657 BET1 gene BET1 Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, MONDO:0005027 34779586 False 1 50;0;50 8.355 False ENSG00000105829 ENSG00000105829 HGNC:14562 BOLA1 gene BOLA1 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000178096 ENSG00000178096 HGNC:24263 BOLA2 gene BOLA2 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000183336 ENSG00000183336 HGNC:29488 C1GALT1C1 gene C1GALT1C1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Other - please specify in evaluation comments COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies);Tn polyagglutination syndrome, somatic;Tn polyagglutination syndrome, somatic 300622 27604308;19778426;27536663 False 1 0;0;0 8.355 False ENSG00000171155 ENSG00000171155 HGNC:24338 CAD gene CAD Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Iz 616457 False 1 0;0;0 8.355 False ENSG00000084774 ENSG00000084774 HGNC:1424 CAMK2G gene CAMK2G Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early infantile epileptic encephalopathy 30109124;28388656 False 1 0;67;33 8.355 False ENSG00000148660 ENSG00000148660 HGNC:1463 CAMLG gene CAMLG Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIz, OMIM:620201 35262690 False 1 0;0;100 8.355 False ENSG00000164615 ENSG00000164615 HGNC:1471 CAMLG gene CAMLG Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIz, OMIM:620201 35262690 False 1 0;0;100 8.355 False ENSG00000164615 ENSG00000164615 HGNC:1471 CASR gene CASR Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen Epilepsy - early onset or syndromic Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899Hypercalciuric hypercalcemia{Calcium, serum level of} False 1 0;50;50 8.355 False ENSG00000036828 ENSG00000036828 HGNC:1514 CBL gene CBL Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Review Epilepsy - early onset or syndromic 24463883 False 1 0;33;67 8.355 False ENSG00000110395 ENSG00000110395 HGNC:1541 CCDC186 gene CCDC186 Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy 33259146;28600779 False 1 0;0;100 8.355 False ENSG00000165813 ENSG00000165813 HGNC:24349 CCND2 gene CCND2 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 24705253 False 1 0;33;67 8.355 True ENSG00000118971 ENSG00000118971 HGNC:1583 CD320 gene CD320 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Methylmalonic aciduria due to transcobalamin receptor defect 27604308;20524213 False 1 0;0;0 8.355 False ENSG00000167775 ENSG00000167775 HGNC:16692 CEP89 gene CEP89 Expert Review Red;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal isolated complex IV deficiency, intellectual disability and multisystemic problems PMID: 23575228 False 1 50;0;50 8.355 False ENSG00000121289 ENSG00000121289 HGNC:25907 CETP gene CETP London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted [High density lipoprotein cholesterol level QTL 10] 143470;Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism);Hyperalphalipoproteinemia 143470 27604308 False 1 0;0;100 8.355 False ENSG00000087237 ENSG00000087237 HGNC:1869 CHMP3 gene CHMP3 Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Complex spastic quadriplegia associated with developmental delay and seizures 35710109 False 1 0;0;0 8.355 False ENSG00000115561 ENSG00000115561 HGNC:29865 CHRM1 gene CHRM1 Expert Review Red;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental delay;intellectual disability, MONDO:0001071;autism 34212451;31981491;12483218 False 1 0;100;0 8.355 False ENSG00000168539 ENSG00000168539 HGNC:1950 CLCN2 gene CLCN2 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;NIHRBR-RD Consortium SPEED_v3.0_20170404;Literature;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Epilepsy, juvenile myoclonic, susceptibility to, 8}, OMIM:607628;{Epilepsy, juvenile absence, susceptibility to, 2}, OMIM:607628;{Epilepsy, idiopathic generalized, susceptibility to, 11}, OMIM:607628 23707145;19191339;20037607;19710712 False 1 0;67;33 8.355 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLCN6 gene CLCN6 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 29667327;26658788;25794116 False 1 0;50;50 8.355 False ENSG00000011021 ENSG00000011021 HGNC:2024 CLCN6 gene CLCN6 Other Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173 29667327;26658788;25794116;21107136;33217309;16950870 False 1 0;0;100 8.355 False ENSG00000011021 ENSG00000011021 HGNC:2024 CLN5 gene CLN5 Wessex and West Midlands GLH;NHS GMS;Expert;Expert Review Red Epilepsy - early onset or syndromic False 1 0;33;67 8.355 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLPS gene CLPS London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism) 27604308 False 1 0;0;100 8.355 False ENSG00000137392 ENSG00000137392 HGNC:2085 CNDP1 gene CNDP1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Carnosinaemia (Other disorders of peptide metabolism) 27604308 False 1 0;0;100 8.355 False ENSG00000150656 ENSG00000150656 HGNC:20675 CNTN2 gene CNTN2 Wessex and West Midlands GLH;NHS GMS;Radboud University Medical Center, Nijmegen Epilepsy - early onset or syndromic Epilepsy, familial adult myoclonic, 5 False 1 0;100;0 8.355 False ENSG00000184144 ENSG00000184144 HGNC:2172 COA1 gene COA1 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000106603 ENSG00000106603 HGNC:21868 COA5 gene COA5 Expert Review Red;London North GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 27604308;21457908 False 1 50;50;0 8.355 False ENSG00000183513 ENSG00000183513 HGNC:33848 COG2 gene COG2 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type IIq, 617395 11980916;24784932 False 1 0;0;0 8.355 False ENSG00000135775 ENSG00000135775 HGNC:6546 COX4I1 gene COX4I1 Expert Review Red Epilepsy - early onset or syndromic Unknown Mitochondrial Diseases;No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000131143 ENSG00000131143 HGNC:2265 COX5B gene COX5B Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000135940 ENSG00000135940 HGNC:2269 COX6C gene COX6C Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000164919 ENSG00000164919 HGNC:2285 COX7A1 gene COX7A1 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000161281 ENSG00000161281 HGNC:2287 COX7A2 gene COX7A2 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000112695 ENSG00000112695 HGNC:2288 COX7B2 gene COX7B2 Expert Review Red Epilepsy - early onset or syndromic Unknown ?{Nasopharyngeal carcinoma, susceptibility to}, 607107 False 1 0;100;0 8.355 False ENSG00000170516 ENSG00000170516 HGNC:24381 COX7C gene COX7C Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000127184 ENSG00000127184 HGNC:2292 COX8A gene COX8A Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency 220110 PMID: 26685157 False 1 100;0;0 8.355 False ENSG00000176340 ENSG00000176340 HGNC:2294 CPA6 gene CPA6 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, familial temporal lobe, 5 614417 AR, AD;Febrile seizures, familial, 11 614418 21922598;23105115 False 1 25;38;38 8.355 False ENSG00000165078 ENSG00000165078 HGNC:17245 CRH gene CRH Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Epilepsy - early onset or syndromic False 1 0;17;83 8.355 False ENSG00000147571 ENSG00000147571 HGNC:2355 CSNK2A1 gene CSNK2A1 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Okur-Chung neurodevelopmental syndrome, OMIM:617062 30655572;27048600 False 1 0;67;33 8.355 False ENSG00000101266 ENSG00000101266 HGNC:2457 CYP7A1 gene CYP7A1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis);Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 27604308 False 1 0;0;100 8.355 False ENSG00000167910 ENSG00000167910 HGNC:2651 DDOST gene DDOST Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Ir 614507 22305527 False 1 0;0;0 8.355 False ENSG00000244038 ENSG00000244038 HGNC:2728 DHFR2 gene DHFR2 Expert Review Red Epilepsy - early onset or syndromic Unknown 21876184 False 1 0;0;100 8.355 False ENSG00000178700 ENSG00000178700 HGNC:27309 DLST gene DLST London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype?Familial Alzheimer disease 27604308;12805207;1943690 False 1 0;50;50 8.355 False ENSG00000119689 ENSG00000119689 HGNC:2911 DMBX1 gene DMBX1 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal global developmental delay, intellectual disability, and epilepsy 25558065 False 1 0;67;33 8.355 False ENSG00000197587 ENSG00000197587 HGNC:19026 DMGDH gene DMGDH London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Dimethylglycine dehydrogenase deficiency 605850;Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) 27604308;18937046 - functional study expressing the variant form in E.coli showed a decrease in activity;11231903 - case study False 1 0;0;100 8.355 False ENSG00000132837 ENSG00000132837 HGNC:24475 DPEP1 gene DPEP1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle) 27604308 False 1 0;0;100 8.355 False ENSG00000015413 ENSG00000015413 HGNC:3002 DTD1 gene DTD1 Expert Review Red Epilepsy - early onset or syndromic Unknown False 1 0;0;0 8.355 False ENSG00000125821 ENSG00000125821 HGNC:16219 ECSIT gene ECSIT Expert Review Red;Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 8.355 False ENSG00000130159 ENSG00000130159 HGNC:29548 EGF gene EGF London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism) 27604308 False 1 0;0;100 8.355 False ENSG00000138798 ENSG00000138798 HGNC:3229 EIF2A gene EIF2A Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Seizures;ASD 31130284 False 1 0;0;100 8.355 False ENSG00000144895 ENSG00000144895 HGNC:3254 ERCC6L2 gene ERCC6L2 Expert Review Red Epilepsy - early onset or syndromic Unknown False 1 0;0;0 8.355 False ENSG00000182150 ENSG00000182150 HGNC:26922 FAR1 gene FAR1 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 25439727;30561787;33239752 False 1 0;0;100 8.355 False ENSG00000197601 ENSG00000197601 HGNC:26222 FBP2 gene FBP2 Expert Review Red Epilepsy - early onset or syndromic Unknown isolated lactic acidosis False 1 0;0;0 8.355 False ENSG00000130957 ENSG00000130957 HGNC:3607 FIG4 gene FIG4 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic False 1 0;67;33 8.355 False ENSG00000112367 ENSG00000112367 HGNC:16873 FOLR2 gene FOLR2 Expert Review Red Epilepsy - early onset or syndromic Unknown 14711912;19587340 False 1 0;0;100 8.355 False ENSG00000165457 ENSG00000165457 HGNC:3793 FOLR3 gene FOLR3 Expert Review Red Epilepsy - early onset or syndromic Unknown 8110752 False 1 0;0;100 8.355 False ENSG00000110203 ENSG00000110203 HGNC:3795 FTL gene FTL Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal L-ferritin deficiency, dominant and recessive 615604 23940258 False 1 0;50;50 8.355 False ENSG00000087086 ENSG00000087086 HGNC:3999 FXYD2 gene FXYD2 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypomagnesemia 2, renal 154020;Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism) 27604308 False 1 0;0;100 8.355 False ENSG00000137731 ENSG00000137731 HGNC:4026 GAL gene GAL Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Epilepsy, familial temporal lobe, 8 616461 25691535 False 1 0;67;33 8.355 False ENSG00000069482 ENSG00000069482 HGNC:4114 GALNT12 gene GALNT12 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies));GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies);{Colorectal cancer, susceptibility to, 1} 608812 27604308 False 1 0;0;100 8.355 False ENSG00000119514 ENSG00000119514 HGNC:19877 GATAD2B gene GATAD2B Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Review Epilepsy - early onset or syndromic Willemsen et al (2013) J Med Genet 50:507 514 False 1 0;17;83 8.355 False ENSG00000143614 ENSG00000143614 HGNC:30778 GATB gene GATB Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 41, OMIM:618838 False 1 0;0;100 8.355 False ENSG00000059691 ENSG00000059691 HGNC:8849 GATM gene GATM Wessex and West Midlands GLH;NHS GMS;Expert;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3, OMIM:612718 26490222;11555793 False 1 0;14;86 8.355 False ENSG00000171766 ENSG00000171766 HGNC:4175 GGT1 gene GGT1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Gamma-glutamyl transpeptidase deficiency;Glutathionuria (Disorders of the gamma-glutamyl cycle) 27604308;24816252 False 1 0;0;100 8.355 False ENSG00000100031 ENSG00000100031 HGNC:4250 GLRB gene GLRB Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2, 614619 21391991 False 1 0;17;83 8.355 False ENSG00000109738 ENSG00000109738 HGNC:4329 GNB2 gene GNB2 Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sturge-Weber syndrome, somatic, mosaic, OMIM:185300 34124757 False 1 0;0;100 8.355 False ENSG00000172354 ENSG00000172354 HGNC:4398 HAL gene HAL London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;100 8.355 False ENSG00000084110 ENSG00000084110 HGNC:4806 HYKK gene HYKK London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;100 8.355 False ENSG00000188266 ENSG00000188266 HGNC:34403 IDH2 gene IDH2 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown D-2-hydroxyglutaric aciduria 2, 613657 20847235;24049096 False 1 25;75;0 8.355 True ENSG00000182054 ENSG00000182054 HGNC:5383 IDH3B gene IDH3B Expert Review Red Epilepsy - early onset or syndromic Unknown False 1 0;100;0 8.355 False ENSG00000101365 ENSG00000101365 HGNC:5385 INO80 gene INO80 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability, epilepsy and primary microcephaly 25558065 False 1 0;33;67 8.355 False ENSG00000128908 ENSG00000128908 HGNC:26956 KCTD7 gene KCTD7 Other Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726;progressive myoclonic epilepsy type 3 MONDO:0012721 False 1 0;0;100 8.355 False ENSG00000243335 ENSG00000243335 HGNC:21957 KHK gene KHK London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Essential fructosuria (Disorders of fructose metabolism) 27604308 False 1 0;0;100 8.355 False ENSG00000138030 ENSG00000138030 HGNC:6315 KMT5B gene KMT5B Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 51, 617788 29276005;28191889 False 1 0;33;67 8.355 False ENSG00000110066 ENSG00000110066 HGNC:24283 LACTB gene LACTB Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000103642 ENSG00000103642 HGNC:16468 LFNG gene LFNG London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);?Spondylocostal dysostosis 3, autosomal recessive 609813;?Spondylocostal dysostosis 3, autosomal recessive, 609813;LFNG-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 16385447 False 1 0;0;100 8.355 False ENSG00000106003 ENSG00000106003 HGNC:6560 LIPI gene LIPI London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Hypertriglyceridemia, susceptibility to}, 145750;Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias) 27604308 False 1 0;0;100 8.355 False ENSG00000188992 ENSG00000188992 HGNC:18821 LMNB2 gene LMNB2 NHS GMS;Expert Review Red;Wessex and West Midlands GLH Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Epilepsy, progressive myoclonic, 9, OMIM:616540 16826530;25954030;33033404 False 1 0;33;67 8.355 False ENSG00000176619 ENSG00000176619 HGNC:6638 MAGI2 gene MAGI2 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;UKGTN Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 15 617609;Infantile Spasms 18565486;27932480;21694734;31056551 False 1 55;9;36 8.355 False ENSG00000187391 ENSG00000187391 HGNC:18957 MAPK10 gene MAPK10 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Expert Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic Encephalopathy;EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE 23329067 False 1 57;14;29 8.355 False ENSG00000109339 ENSG00000109339 HGNC:6872 MATN4 gene MATN4 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Global developmental delay, holoprosencephaly, microcephaly, lumbosacral myelomeningocele, epilepsy, proptosis, and diabetes insipidus 25558065 False 1 0;33;67 8.355 False ENSG00000124159 ENSG00000124159 HGNC:6910 MCM3AP gene MCM3AP Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 618124 32202298 False 1 0;0;100 8.355 False ENSG00000160294 ENSG00000160294 HGNC:6946 MRPL12 gene MRPL12 Expert list;Expert Review Red Epilepsy - early onset or syndromic Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis);No OMIM phenotype False 1 33;0;67 8.355 False ENSG00000262814 ENSG00000262814 HGNC:10378 MRPL40 gene MRPL40 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;50;50 8.355 False ENSG00000185608 ENSG00000185608 HGNC:14491 MRPS23 gene MRPS23 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal hepatic disease and combined respiratory chain complex deficiencies PMID: 26741492 False 1 50;0;50 8.355 False ENSG00000181610 ENSG00000181610 HGNC:14509 MT-CO3 gene MT-CO3 Expert Review Red;Literature Epilepsy - early onset or syndromic MITOCHONDRIAL seizures 8739943;12915481 False 1 0;0;0 8.355 False ENSG00000198938 ENSG00000198938 HGNC:7422 MTHFD1 gene MTHFD1 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal {Abruptio placentae, susceptibility to};{Spina bifida, folate-sensitive, susceptibility to} 601634 AR False 1 0;0;100 8.355 False ENSG00000100714 ENSG00000100714 HGNC:7432 MT-TL1 gene MT-TL1 Wessex and West Midlands GLH;NHS GMS;UKGTN;Expert Review Red Epilepsy - early onset or syndromic MITOCHONDRIAL False 1 0;17;83 8.355 False ENSG00000209082 ENSG00000209082 HGNC:7490 MYO1H gene MYO1H Literature;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482 28779001 False 1 0;0;100 8.355 False ENSG00000174527 ENSG00000174527 HGNC:13879 NAT8L gene NAT8L Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?N-acetylaspartate deficiency 614063 19807691 False 1 0;0;100 8.355 False ENSG00000185818 ENSG00000185818 HGNC:26742 NDUFA11 gene NDUFA11 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic Mitochondrial complex I deficiency 252010 18306244 False 1 0;100;0 8.355 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA3 gene NDUFA3 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 8.355 False ENSG00000170906 ENSG00000170906 HGNC:7686 NDUFA5 gene NDUFA5 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 8.355 False ENSG00000128609 ENSG00000128609 HGNC:7688 NDUFA7 gene NDUFA7 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 8.355 False ENSG00000267855 ENSG00000267855 HGNC:7691 NDUFAB1 gene NDUFAB1 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 8.355 False ENSG00000004779 ENSG00000004779 HGNC:7694 NDUFB1 gene NDUFB1 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 8.355 False ENSG00000183648 ENSG00000183648 HGNC:7695 NDUFB2 gene NDUFB2 Expert Review Red Epilepsy - early onset or syndromic Unknown Isolated complex I deficiency False 1 0;100;0 8.355 False ENSG00000090266 ENSG00000090266 HGNC:7697 NDUFB4 gene NDUFB4 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 8.355 False ENSG00000065518 ENSG00000065518 HGNC:7699 NDUFB5 gene NDUFB5 Expert Review Red Epilepsy - early onset or syndromic Unknown Isolated complex I deficiency False 1 0;100;0 8.355 False ENSG00000136521 ENSG00000136521 HGNC:7700 NDUFB6 gene NDUFB6 Expert Review Red Epilepsy - early onset or syndromic Unknown Isolated complex I deficiency False 1 0;100;0 8.355 False ENSG00000165264 ENSG00000165264 HGNC:7701 NDUFC1 gene NDUFC1 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 8.355 False ENSG00000109390 ENSG00000109390 HGNC:7705 NDUFS5 gene NDUFS5 Expert Review Red Epilepsy - early onset or syndromic Unknown Mitochondrial Diseases;No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 8.355 False ENSG00000168653 ENSG00000168653 HGNC:7712 NDUFV3 gene NDUFV3 Expert Review Red Epilepsy - early onset or syndromic Unknown Mitochondrial Diseases;No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 8.355 False ENSG00000160194 ENSG00000160194 HGNC:7719 NID1 gene NID1 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, focal epilepsy and hemiparesis 25558065 False 1 0;33;67 8.355 False ENSG00000116962 ENSG00000116962 HGNC:7821 NRAS gene NRAS Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic False 1 0;67;33 8.355 False ENSG00000213281 ENSG00000213281 HGNC:7989 NT5C gene NT5C London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism) 27604308 False 1 0;0;100 8.355 False ENSG00000125458 ENSG00000125458 HGNC:17144 NUP62 gene NUP62 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Infantile striatal necrosis (Other metabolic disorders);Striatonigral degeneration, infantile, 271930 27604308 False 1 0;0;100 8.355 False ENSG00000213024 ENSG00000213024 HGNC:8066 OSTC gene OSTC Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Oligosaccharyltransferase complex-congenital disorders of glycosylation 32267060 False 1 0;0;100 8.355 False ENSG00000198856 ENSG00000198856 HGNC:24448 OXA1L gene OXA1L Expert Review Red;Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000155463 ENSG00000155463 HGNC:8526 PCDHB4 gene PCDHB4 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability, microcephaly and epilepsy 25558065 False 1 0;33;67 8.355 False ENSG00000081818 ENSG00000081818 HGNC:8689 PCLO gene PCLO Expert Review Red;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic False 1 0;25;75 8.355 False ENSG00000186472 ENSG00000186472 HGNC:13406 PCYT2 gene PCYT2 Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Global developmental delay;Developmental regression;Intellectual disability;Spastic paraparesis;Seizures;Spastic tetraparesis;Cerebral atrophy;Cerebellar atrophy 31637422;17325045;22764088 False 1 100;0;0 8.355 False ENSG00000185813 ENSG00000185813 HGNC:8756 PDK1 gene PDK1 Expert Review Red;London North GLH;NHS GMS Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 50;0;50 8.355 False ENSG00000152256 ENSG00000152256 HGNC:8809 PDK2 gene PDK2 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;50;50 8.355 False ENSG00000005882 ENSG00000005882 HGNC:8810 PDK4 gene PDK4 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;50;50 8.355 False ENSG00000004799 ENSG00000004799 HGNC:8812 PDP2 gene PDP2 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;33;67 8.355 False ENSG00000172840 ENSG00000172840 HGNC:30263 PDPR gene PDPR Expert Review Red;London North GLH;NHS GMS Epilepsy - early onset or syndromic Unknown Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) 27604308;25558065 False 1 33;33;33 8.355 False ENSG00000090857 ENSG00000090857 HGNC:30264 PDXK gene PDXK London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism) 27604308 False 1 0;0;100 8.355 False ENSG00000160209 ENSG00000160209 HGNC:8819 PEX11A gene PEX11A Expert Review Red;Literature Epilepsy - early onset or syndromic Unknown Zellweger syndrome;peroxisome proliferation;mild peroxisomal biogenesis defect 25177298;10716247;25608554;11839773 False 1 0;0;100 8.355 False ENSG00000166821 ENSG00000166821 HGNC:8852 PHKG1 gene PHKG1 Expert Review Red Epilepsy - early onset or syndromic Unknown False 1 0;0;100 8.355 False ENSG00000164776 ENSG00000164776 HGNC:8930 PHYKPL gene PHYKPL London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism);[?Phosphohydroxylysinuria] 615011 27604308 False 1 0;0;100 8.355 False ENSG00000175309 ENSG00000175309 HGNC:28249 PIGW gene PIGW Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Hyperphosphatasia with mental retardation syndrome 5 24367057 False 1 0;0;0 8.355 False ENSG00000184886 ENSG00000277161 HGNC:23213 PIK3CA gene PIK3CA Expert Review Red;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501 22729224;22228622;22729223 False 1 33;67;0 8.355 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000121879 ENSG00000121879 HGNC:8975 PNLIP gene PNLIP London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism);Pancreatic lipase deficiency 614338 27604308 False 1 0;0;100 8.355 False ENSG00000175535 ENSG00000175535 HGNC:9155 PNPLA4 gene PNPLA4 Expert Review Red Epilepsy - early onset or syndromic Unknown False 1 0;0;100 8.355 False ENSG00000006757 ENSG00000006757 HGNC:24887 POP1 gene POP1 Expert Review Red Epilepsy - early onset or syndromic Unknown False 1 0;100;0 8.355 False ENSG00000104356 ENSG00000104356 HGNC:30129 PPM1B gene PPM1B London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308;15913950;11524703 False 1 0;0;100 8.355 False ENSG00000138032 ENSG00000138032 HGNC:9276 PPM1K gene PPM1K Expert Review Red Epilepsy - early onset or syndromic Unknown ?Maple syrup urine disease, mild variant 615135 False 1 0;0;100 8.355 False ENSG00000163644 ENSG00000163644 HGNC:25415 PRDM8 gene PRDM8 NHS GMS;Expert Review Red;Wessex and West Midlands GLH Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Epilepsy, progressive myoclonic, 10, 616640 22961547 False 1 0;50;50 8.355 False ENSG00000152784 ENSG00000152784 HGNC:13993 PREPL gene PREPL London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypotonia-cystinuria syndrome 606407;Hypotonia-cystinuria syndrome (Disorders of amino acid transport) 27604308 False 1 0;0;100 8.355 False ENSG00000138078 ENSG00000138078 HGNC:30228 PRICKLE2 gene PRICKLE2 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Expert;Expert Review Red Epilepsy - early onset or syndromic False 1 0;33;67 8.355 False ENSG00000163637 ENSG00000163637 HGNC:20340 PSMB8 gene PSMB8 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 20534754 False 1 0;33;67 8.355 False ENSG00000204264 ENSG00000204264 HGNC:9545 PTCD1 gene PTCD1 Expert Review Red Epilepsy - early onset or syndromic Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;100;0 8.355 False ENSG00000106246 ENSG00000106246 HGNC:22198 PTCH1 gene PTCH1 NHS GMS;Expert Review Red;Wessex and West Midlands GLH Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 7, OMIM:610828 False 1 0;50;50 8.355 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTPRZ1 gene PTPRZ1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism);{H. pylori infection, susceptibility to} 600263 27604308 False 1 0;0;100 8.355 False ENSG00000106278 ENSG00000106278 HGNC:9685 RALGAPB gene RALGAPB Expert Review Red;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorders, autism 32853829 False 1 0;100;0 8.355 False ENSG00000170471 ENSG00000170471 HGNC:29221 RNASEH2A gene RNASEH2A Expert Review Red;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Intracerebral calcification disorders;(Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4;Inherited white matter disorders 27604308 False 1 100;0;0 8.355 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Red;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, OMIM:610181 27604308 False 1 100;0;0 8.355 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Red;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;(Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3;Intracerebral calcification disorders;Inherited white matter disorders 27604308 False 1 100;0;0 8.355 False ENSG00000172922 ENSG00000172922 HGNC:24116 ROBO3 gene ROBO3 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 16525029;15105459 False 1 67;0;33 8.355 False ENSG00000154134 ENSG00000154134 HGNC:13433 RUBCN gene RUBCN Wessex and West Midlands GLH;NHS GMS;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705 20826435 False 1 0;25;75 8.355 False ENSG00000145016 ENSG00000145016 HGNC:28991 RYR3 gene RYR3 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy 25262651;29667327 False 1 0;17;83 8.355 False ENSG00000198838 ENSG00000198838 HGNC:10485 SARDH gene SARDH London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal [Sarcosinemia] 268900;Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism) 27604308 False 1 0;0;100 8.355 False ENSG00000123453 ENSG00000123453 HGNC:10536 SCARB1 gene SCARB1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal [High density lipoprotein cholesterol level QTL6] 610762;Scavenger receptor class B type I deficiency (Inherited hypolipidaemias) 27604308 False 1 0;0;100 8.355 False ENSG00000073060 ENSG00000073060 HGNC:1664 SCN2B gene SCN2B Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Epilepsy - early onset or syndromic False 1 0;17;83 8.355 False ENSG00000149575 ENSG00000149575 HGNC:10589 SCN9A gene SCN9A Expert Review Red;North West GLH;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Expert Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, generalized, with febrile seizures plus, type 7 613863;Febrile seizures, familial, 3B 613863;{Dravet syndrome, modifier of} 607208 19763161;29500686;30834459;23895530;33216760 False 1 0;22;78 8.355 False ENSG00000169432 ENSG00000169432 HGNC:10597 SEC24D gene SEC24D Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability and epilepsy 25558065 False 1 0;33;67 8.355 False ENSG00000150961 ENSG00000150961 HGNC:10706 SEC31A gene SEC31A Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 618651 30464055 False 1 0;100;0 8.355 False ENSG00000138674 ENSG00000138674 HGNC:17052 SHH gene SHH Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic False 1 0;100;0 8.355 False ENSG00000164690 ENSG00000164690 HGNC:10848 SHPK gene SHPK London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Sedoheptulokinase deficiency (Other metabolic disorders);[Sedoheptulokinase deficiency] 617213 27604308 False 1 0;0;100 8.355 False ENSG00000197417 ENSG00000197417 HGNC:1492 SLC22A4 gene SLC22A4 Expert Review Red Epilepsy - early onset or syndromic Unknown 24816252 False 1 0;0;100 8.355 False ENSG00000197208 ENSG00000197208 HGNC:10968 SLC25A19 gene SLC25A19 NHS GMS;Expert Review Red;Wessex and West Midlands GLH Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Microcephaly, Amish type, 607196;Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 False 1 0;50;50 8.355 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A2 gene SLC25A2 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) 27604308 False 1 0;0;100 8.355 False ENSG00000120329 ENSG00000120329 HGNC:22921 SLC25A40 gene SLC25A40 Expert Review Red Epilepsy - early onset or syndromic Unknown False 1 0;100;0 8.355 False ENSG00000075303 ENSG00000075303 HGNC:29680 SLC26A6 gene SLC26A6 Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Enteric hyperoxaluria and nephrolithiasis 35115415 False 1 0;0;0 8.355 False ENSG00000225697 ENSG00000225697 HGNC:14472 SLC27A5 gene SLC27A5 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis) 27604308 False 1 0;0;100 8.355 False ENSG00000083807 ENSG00000083807 HGNC:10999 SLC35A3 gene SLC35A3 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, mental retardation, and seizures 24031089 False 1 0;0;0 8.355 False ENSG00000117620 ENSG00000117620 HGNC:11023 SLC36A2 gene SLC36A2 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Iminoglycinuria, digenic 242600;Hyperglycinuria 138500;Hyperglycinuria AR 27604308;19033659 False 1 0;0;0 8.355 False ENSG00000186335 ENSG00000186335 HGNC:18762 SLC52A1 gene SLC52A1 Expert Review Red Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Riboflavin deficiency 615026 21089064 False 1 0;0;100 8.355 False ENSG00000132517 ENSG00000132517 HGNC:30225 SLC5A6 gene SLC5A6 Expert Review Red;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973 27904971;31392107;31754459;23104561;29669219;35013551;38036278;38012394;37391029;31754459 False 1 33;0;67 8.355 False ENSG00000138074 ENSG00000138074 HGNC:11041 SLC6A19 gene SLC6A19 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hartnup disorder, 234500 27604308;20399395;19335424;24596948;15592994 False 1 33;67;0 8.355 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A5 gene SLC6A5 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, 614618 False 1 0;43;57 8.355 False ENSG00000165970 ENSG00000165970 HGNC:11051 SLC7A6OS gene SLC7A6OS Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic, 12 OMIM:619191 25803583;33085104 False 1 0;0;100 8.355 False ENSG00000103061 ENSG00000103061 HGNC:25807 SLCO1B1 gene SLCO1B1 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperbilirubinemia, Rotor type, digenic 24816252;22232210 False 1 0;0;100 8.355 False ENSG00000134538 ENSG00000134538 HGNC:10959 SLCO1B3 gene SLCO1B3 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperbilirubinemia, Rotor type, digenic 22232210 False 1 0;0;100 8.355 False ENSG00000111700 ENSG00000111700 HGNC:10961 SRPX2 gene SRPX2 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;Expert Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, OMIM:300643 24179158;18718938;29663392;24995671;16497722 False 1 0;14;86 8.355 False ENSG00000102359 ENSG00000102359 HGNC:30668 SRRT gene SRRT Expert Review Red Epilepsy - early onset or syndromic Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;0;100 8.355 False ENSG00000087087 ENSG00000087087 HGNC:24101 STIL gene STIL NHS GMS;Expert Review Red;Wessex and West Midlands GLH Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Microcephaly 7, primary, 612703 False 1 0;50;50 8.355 False ENSG00000123473 ENSG00000123473 HGNC:10879 STT3B gene STT3B Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Ix 615597 False 1 0;0;0 8.355 False ENSG00000163527 ENSG00000163527 HGNC:30611 SUCLG2 gene SUCLG2 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Succinyl-CoA synthetase deficiency (Other metabolic disorders);No OMIM phenotype 27604308 False 1 0;50;50 8.355 False ENSG00000172340 ENSG00000172340 HGNC:11450 SUGCT gene SUGCT London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria type III (Organic acidurias);Glutaric aciduria type III 231690 27604308 False 1 0;0;100 8.355 False ENSG00000175600 ENSG00000175600 HGNC:16001 TCN1 gene TCN1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism);No OMIM number 27604308 False 1 0;0;100 8.355 False ENSG00000134827 ENSG00000134827 HGNC:11652 TDO2 gene TDO2 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM number;Tryptophanaemia (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;100 8.355 False ENSG00000151790 ENSG00000151790 HGNC:11708 TGIF1 gene TGIF1 NHS GMS;Expert Review Red;Wessex and West Midlands GLH Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 4, 142946 False 1 0;50;50 8.355 False ENSG00000177426 ENSG00000177426 HGNC:11776 TIMM44 gene TIMM44 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000104980 ENSG00000104980 HGNC:17316 TM6SF2 gene TM6SF2 Expert Review Red Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown non-alcoholic fatty liver disease 28235613 False 1 0;0;100 8.355 False ENSG00000213996 ENSG00000213996 HGNC:11861 TMEM126A gene TMEM126A Expert Review Red;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Optic atrophy 7 612989 27604308;31119195 False 1 50;0;50 8.355 False ENSG00000171202 ENSG00000171202 HGNC:25382 TPMT gene TPMT London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism);{Thiopurines, poor metabolism of, 1} 610460 27604308 False 1 0;0;100 8.355 False ENSG00000137364 ENSG00000137364 HGNC:12014 TREH gene TREH London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Trehalase deficiency (Other carbohydrate disorders) 27604308 False 1 0;0;100 8.355 False ENSG00000118094 ENSG00000118094 HGNC:12266 TUBA3E gene TUBA3E Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Global developmental delay, primary microcephaly, lissencephaly, epilepsy 25558065 False 1 0;33;67 8.355 False ENSG00000152086 ENSG00000152086 HGNC:20765 TXN2 gene TXN2 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy;?Combined oxidative phosphorylation deficiency 29 PMID: 26626369 False 1 100;0;0 8.355 False ENSG00000100348 ENSG00000100348 HGNC:17772 TXN2 gene TXN2 Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 29, 616811;infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy 26626369 False 1 0;0;0 8.355 False ENSG00000100348 ENSG00000100348 HGNC:17772 UNC13B gene UNC13B Expert Review Red;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted partial epilepsy, MONDO:0005384 33876820;35380625 False 1 0;0;100 8.355 False ENSG00000198722 ENSG00000198722 HGNC:12566 UQCRH gene UQCRH Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 8.355 False ENSG00000173660 ENSG00000173660 HGNC:12590 USF1 gene USF1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Familial combined hyperlipoproteinaemia (Inherited mixed hyperlipidaemias) 27604308 False 1 0;0;100 8.355 False ENSG00000158773 ENSG00000158773 HGNC:12593 VPS13C gene VPS13C Expert Review Red;Expert Review Red;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic Unknown False 1 33;0;67 8.355 False ENSG00000129003 ENSG00000129003 HGNC:23594 ZIC2 gene ZIC2 NHS GMS;Expert Review Red;Wessex and West Midlands GLH Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 5, 609637 False 1 0;50;50 8.355 False ENSG00000043355 ENSG00000043355 HGNC:12873 ATN1_CAG str ATN1 Expert Review Green;NHS GMS;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubral-pallidoluysian atrophy, OMIM:125370 False 3 100;0;0 8.355 False ENSG00000111676 ENSG00000111676 HGNC:3033 12 7045880 7045936 6936717 6936772 CAG 36 48 CSTB_CCCCGCCCCGCG str CSTB Expert Review Green;NHS GMS;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 False 3 0;0;0 8.355 False ENSG00000160213 ENSG00000160213 HGNC:2482 21 45196328 45196351 43776429 43776470 CCCCGCCCCGCG 18 30 DMPK_CTG str DMPK NHS GMS;Expert Review Green;Expert list Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1, OMIM:160900 False 3 100;0;0 8.355 False ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 35 50 FXN_GAA str FXN NHS GMS;Expert Review Green;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia OMIM:229300;Friedreich ataxia with retained reflexes OMIM:229300;Friedreich ataxia 1 MONDO:0100340 False 3 100;0;0 8.355 False ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 GLS_GCA str GLS Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 30970188 False 1 100;0;0 8.355 False ENSG00000115419 ENSG00000115419 HGNC:4331 2 191745599 191745646 190880873 190880920 GCA 50 400 ISCA-37404-Loss region NHS GMS;Expert Review Green;ClinGen Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly;105832;Developmental delay, muscle weakness;Mental retardation;Angelman syndrome;176270;Prader-Willi syndrome 22045295;7611294 False 3 0;0;0 8.355 False 15 22782170 28134728 3 60 cnv_loss 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss ISCA-37411-Loss region NHS GMS;Expert Review Green;ClinGen Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PMID: 19289393 incomplete penetrance for developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems;612001;PMID: 18278044 mental retardation, epilepsy and variable facial and digital dysmorphisms;PMID: 19136953 idiopathic generalized epilepsy without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia 19289393;19136953;18278044 False 3 0;0;0 8.355 False 15 30900686 32153204 3 60 cnv_loss 15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss ISCA-37415-Loss region NHS GMS;Expert Review Green;ClinGen Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PMID: 18550696 Phenotypic variability, common features were identified: mental retardation, microcephaly and epilepsy in three patients, two of these had also short stature, and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects 19843651;18550696;24246141 False 3 0;0;0 8.355 False 16 15417854 16198408 3 60 cnv_loss 16p13.11 recurrent region (includes MYH11) Loss ISCA-37423-Gain region NHS GMS;Expert Review Green;ClinGen Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.;mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly);congenital heart disease;8p23.1 duplication syndrome 21933911;23345203 False 3 100;0;0 8.355 False 8 8242542 11908820 2 60 cnv_gain 8p23.1 recurrent region (includes GATA4) Gain ISCA-37429-Loss region Expert Review Green;NHS GMS;ClinGen Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wolf-Hirschhorn syndrome, OMIM:194190 20026556;14630905 False 3 100;0;0 8.355 True 4 337779 2009235 3 60 cnv_loss 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss ISCA-37430-Loss region NHS GMS;Expert Review Green;ClinGen Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay;growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment;Chromosome 17p13.3 duplication syndrome;prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw;Characteristic facies, pre- and post-natal growth retardation;247200;classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities;Miller-Dieker lissencephaly syndrome 19584063;1671808;1879837;3391613;12621583;7634541 False 3 0;0;0 8.355 False 17 1344539 2685615 3 60 cnv_loss 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss ISCA-37432-Gain region NHS GMS;Expert Review Green;ClinGen Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia;Speech and language delay;Seizures (not all);Chromosome 17q12 duplication syndrome;614526;Behavioural difficulties False 3 0;0;0 8.355 False 17 36458167 37854616 3 60 cnv_gain 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain ISCA-37433-Loss region Expert Review Green;ClinGen Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Learning difficulties;immune deficiency;renal anomalies;cleft palate, polydactyly;22q11.2 deletion syndrome;diaphragmatic hernia;192430;polyhydramnios;DiGeorge syndrome;Velocardiofacial syndrome;188400;facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay;congenital heart disease 15545748;15889418;20301696 False 3 0;0;0 8.355 False 22 18924718 20299685 3 60 cnv_loss 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss ISCA-37434-Loss region NHS GMS;Expert Review Green;ClinGen Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown posteriorly rotated, low-set, abnormal ears;brachycephaly;epicanthus;heart defects;pointed chin;deep-set eyes;microcephaly;hypotonia;seizures;poor/absent speech;central nervous system anomalies;large anterior fontanels;microbrachycephaly;mental retardation;growth impairment;large, late-closing anterior fontanel;flat nose;nasal bridge;developmental delay;hearing impairment;distinct dysmorphic features;1p36 deletion syndrome;607872 17918734;22766398;18245432 False 3 0;0;0 8.355 False 1 898703 6229913 3 60 cnv_loss 1p36 terminal region (includes GABRD) Loss ISCA-37440-Loss region Expert Review Green Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal hyperphagia;lactic acidemia;mild/moderate mental retardation;Hypotonia-cystinuria syndrome (HCS);606407;failure to thrive;nephrolithiasis;rapid weight gain in late childhood;minor facial dysmorphism;growth hormone deficiency;facial dysmorphism;respiratory chain complex IV deficiency;cystinuria;neonatal seizures;2p21 deletion syndrome;hypotonia;severe somatic and developmental delay 18234729;11524703;16385448 False 3 0;0;0 8.355 False 2 44183133 44362502 30 60 cnv_loss 2p21 region (includes PREPL and SLC3A1) Loss ISCA-37446-Loss region Expert Review Green;ClinGen Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown micrognathia;neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells;clefting;DiGeorge syndrome;Velocardiofacial syndrome;188400;cardiac malformations;Hearing deficits False 3 0;0;0 8.355 False 22 18924718 21111383 3 60 cnv_loss 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss ISCA-37478-Gain region NHS GMS;Expert Review Green;ClinGen Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636;chromosome 15q11-q13 duplication syndrome;autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems 18374305;16840569;9106540 False 3 0;0;0 8.355 False 15 23465365 28134728 3 60 cnv_gain 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain ISCA-37478-Loss region NHS GMS;Expert Review Green;ClinGen Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly;Developmental delay, muscle weakness;Mental retardation;Angelman syndrome;176270;Prader-Willi syndrome;105830 22045295;7611294 False 3 0;0;0 8.355 False 15 23465365 28134728 3 60 cnv_loss 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss ISCA-37493-Loss region NHS GMS;Expert Review Green;ClinGen Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly;seizures;agenesis of the corpus callosum;intellectual disability;hand and foot anomalies;612337;non-specific craniofacial anomalies;hypoplasia;psychomotor retardation;hypogenesis of the corpus callosum 21800092;17603806;22678713 False 3 0;0;0 8.355 False 1 243124428 245154985 3 60 cnv_loss 1q43q44 terminal region (includes AKT3) Loss ISCA-46290-Gain region NHS GMS;Expert Review Green;ClinGen Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep;300801 25425167;19716111;21418194 False 3 0;0;0 8.355 False X 48447780 52444264 3 60 cnv_gain Xp11.22p11.23 recurrent region (includes SHROOM4) Gain ISCA-46295-Loss region NHS GMS;Expert Review Green;ClinGen Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown seizures;20236110;mental retardation;22775350;dysmorphic features;developmental delay;severe epileptic encephalopathy 19898479;20236110;22775350 False 3 0;0;0 8.355 False 15 31727418 32153204 3 60 cnv_loss 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss ISCA-46297-Loss region ClinGen;Expert Review Green Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 31204719;19888295;20301607;25719193;30836598 False 3 100;0;0 8.355 False 16 21558792 21729102 30 60 cnv_loss 16p12.2 recurrent region (distal)(includes OTOA) Loss ISCA-46304-Gain region ClinGen;Expert Review Green Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 22679399;29141583;29618507;32043567 False 3 100;0;0 8.355 False X 154008529 154110279 3 60 cnv_gain Xq28 region (includes MECP2) Gain