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 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000090861 ENSG00000090861 HGNC:20 AASS gene AASS Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hyperlysinemia, OMIM:238700;Hyperlysinemia (disease), MONDO:0009388 23890588;10775527;27604308;23570448 False 3 100;0;0 8.173 False ENSG00000008311 ENSG00000008311 HGNC:17366 ABAT gene ABAT Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal GABA-transaminase deficiency 613163 20052547;27376954;27903293;10407778 False 3 75;25;0 8.173 False ENSG00000183044 ENSG00000183044 HGNC:23 ACOX1 gene ACOX1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000161533 ENSG00000161533 HGNC:119 ACTL6B gene ACTL6B Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 76, OMIM:618468 31031012;30656450;26539891;27171548;30237576 False 3 67;33;0 8.173 False ENSG00000077080 ENSG00000077080 HGNC:160 ADAR gene ADAR Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010 27937139;24011626 False 3 67;33;0 8.173 False ENSG00000160710 ENSG00000160710 HGNC:225 ADARB1 gene ADARB1 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 32220291;32719099 False 3 100;0;0 8.173 False ENSG00000197381 ENSG00000197381 HGNC:226 ADGRG1 gene ADGRG1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, bilateral frontoparietal, 606854 False 3 67;33;0 8.173 False ENSG00000205336 ENSG00000205336 HGNC:4512 ADPRHL2 gene ADPRHL2 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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;39580621 False 3 50;50;0 8.173 False ENSG00000116863 ENSG00000116863 HGNC:21304 ADSL gene ADSL Expert;Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Adenylosuccinase deficiency Kmoch et al (2000) Hum Mol Genet 9(10): 1501-1513 False 3 83;17;0 8.173 False ENSG00000239900 ENSG00000239900 HGNC:291 AFF3 gene AFF3 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KINSSHIP syndrome, OMIM:619297 18616733;21677750;25660031;31388108;33961779 False 3 50;50;0 8.173 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 AGO1 gene AGO1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 3 100;0;0 8.173 False ENSG00000092847 ENSG00000092847 HGNC:3262 AIMP1 gene AIMP1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 3, OMIM:260600 False 3 67;33;0 8.173 False ENSG00000164022 ENSG00000164022 HGNC:10648 AKT3 gene AKT3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 21159799;22729224 False 3 67;33;0 8.173 False ENSG00000117020 ENSG00000117020 HGNC:393 ALDH5A1 gene ALDH5A1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency OMIM:271980;succinic semialdehyde dehydrogenase deficiency MONDO:0010083 9683595;14635103;32402538 False 3 67;33;0 8.173 False ENSG00000112294 ENSG00000112294 HGNC:408 ALDH7A1 gene ALDH7A1 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, pyridoxine-dependent 266100 16491085;17068770;17721876 False 3 29;14;57 8.173 False ENSG00000164904 ENSG00000164904 HGNC:877 ALG1 gene ALG1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ik 608540 False 3 67;33;0 8.173 False ENSG00000033011 ENSG00000033011 HGNC:18294 ALG11 gene ALG11 Expert Review Green;NHS GMS;Other;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ip False 3 67;33;0 8.173 False ENSG00000253710 ENSG00000253710 HGNC:32456 ALG13 gene ALG13 Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000101901 ENSG00000101901 HGNC:30881 ALG14 gene ALG14 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome;?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 28733338;23404334;30221345 False 3 100;0;0 8.173 False ENSG00000172339 ENSG00000172339 HGNC:28287 ALG3 gene ALG3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id 601110 False 3 67;33;0 8.173 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic 603147 False 3 67;33;0 8.173 False ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ih 608104 26066342;23430830;19688606 False 3 50;25;25 8.173 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type Il 608776 False 3 67;33;0 8.173 False ENSG00000086848 ENSG00000086848 HGNC:15672 ALKBH8 gene ALKBH8 Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 71, OMIM:618504 31079898;33544954;34757492;35571055 False 3 50;50;0 8.173 False ENSG00000137760 ENSG00000137760 HGNC:25189 ALPL gene ALPL Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hypophosphatasia, childhood, OMIM:241510;Hypophosphatasia, infantile, OMIM:241500 11999978;28802630;23479201;27086862;30655187;30083035;30979546 False 3 60;40;0 8.173 False ENSG00000162551 ENSG00000162551 HGNC:438 AMPD2 gene AMPD2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 9 615809 False 3 67;33;0 8.173 False ENSG00000116337 ENSG00000116337 HGNC:469 AMT gene AMT Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy 605899 False 3 67;33;0 8.173 False ENSG00000145020 ENSG00000145020 HGNC:473 ANK2 gene ANK2 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 37195288 False 3 100;0;0 8.173 False ENSG00000145362 ENSG00000145362 HGNC:493 ANKRD11 gene ANKRD11 Expert Review;Expert Review Green Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KBG syndrome, 148050 29565525;30182498 False 3 100;0;0 8.173 False ENSG00000167522 ENSG00000167522 HGNC:21316 ANO4 gene ANO4 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown sporadic encephalopathic and familial epilepsy 38744284 False 3 100;0;0 8.173 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000151572 ENSG00000151572 HGNC:23837 AP1G1 gene AP1G1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (NDD);Intellectual Disability;Epilepsy 34102099 False 3 100;0;0 8.173 False ENSG00000166747 ENSG00000166747 HGNC:555 AP2M1 gene AP2M1 Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False Other ENSG00000161203 ENSG00000161203 HGNC:564 AP3B2 gene AP3B2 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 48 617276 27889060 False 3 75;25;0 8.173 False ENSG00000103723 ENSG00000103723 HGNC:567 APC2 gene APC2 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 10 OMIM:618677 31585108;25753423;19759310;22573669 False 3 50;50;0 8.173 False ENSG00000115266 ENSG00000115266 HGNC:24036 ARF1 gene ARF1 Expert list;Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 8, OMIM:618185 28868155;34353862 False 3 100;0;0 8.173 False ENSG00000143761 ENSG00000143761 HGNC:652 ARF3 gene ARF3 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 3 100;0;0 8.173 False ENSG00000134287 ENSG00000134287 HGNC:654 ARFGEF1 gene ARFGEF1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000066777 ENSG00000066777 HGNC:15772 ARFGEF2 gene ARFGEF2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Periventricular heterotopia with microcephaly 608097 False 3 67;33;0 8.173 False ENSG00000124198 ENSG00000124198 HGNC:15853 ARG1 gene ARG1 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Argininemia, OMIM:207800 26310552;1463019 False 3 67;33;0 8.173 False ENSG00000118520 ENSG00000118520 HGNC:663 ARHGEF9 gene ARHGEF9 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000131089 ENSG00000131089 HGNC:14561 ARID1B gene ARID1B Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 1, 135900 22405089 False 3 75;25;0 8.173 True ENSG00000049618 ENSG00000049618 HGNC:18040 ARV1 gene ARV1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 38 617020 27270415;25558065;26479315 False 3 50;50;0 8.173 False ENSG00000173409 ENSG00000173409 HGNC:29561 ARX gene ARX Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000004848 ENSG00000004848 HGNC:18060 ASAH1 gene ASAH1 Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000104763 ENSG00000104763 HGNC:735 ASH1L gene ASH1L Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 52, OMIM:617796 34373061;25961944;34782621;32469098 False 3 67;33;0 8.173 False ENSG00000116539 ENSG00000116539 HGNC:19088 ASL gene ASL ClinGen;Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria, OMIM:207900;argininosuccinic aciduria, MONDO:0008815;seizure, HP:0001250 12384776;17326097;29326055;38044746;28251416;36994644;21744316 False 3 100;0;0 8.173 False ENSG00000126522 ENSG00000126522 HGNC:746 ASNS gene ASNS Expert list;Expert Review Green Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Asparagine synthetase deficiency OMIM:615574 24139043;25227173;27469131;28776279;29279279;29375865 False 3 100;0;0 8.173 False ENSG00000070669 ENSG00000070669 HGNC:753 ASPA gene ASPA Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Canavan disease 271900 False 3 67;33;0 8.173 False ENSG00000108381 ENSG00000108381 HGNC:756 ASXL3 gene ASXL3 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bainbridge-Ropers syndrome, OMIM:615115 35172777;27901041;34436830;33151654 False 3 100;0;0 8.173 False ENSG00000141431 ENSG00000141431 HGNC:29357 ATN1 gene ATN1 Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494 30827498 False 3 75;25;0 8.173 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 ATP1A1 gene ATP1A1 Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypomagnesemia;Seizures;Intellectual disability 30388404 False 3 67;33;0 8.173 False ENSG00000163399 ENSG00000163399 HGNC:799 ATP1A2 gene ATP1A2 Expert;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 Expert;Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP5O gene ATP5O Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359 34954817;35621276 False 3 50;50;0 8.173 False ENSG00000241837 ENSG00000241837 HGNC:850 ATP6V0A1 gene ATP6V0A1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ATP6V0A1-related developmental disorder (monoallelic) 30842224;33057194;34909687;33833240 False 3 75;25;0 8.173 False ENSG00000033627 ENSG00000033627 HGNC:865 ATP6V0A2 gene ATP6V0A2 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIA 219200;Wrinkly skin syndrome 278250 18157129;22773132 False 3 67;33;0 8.173 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP6V0C gene ATP6V0C Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 24623842;33090716;33190975;35600075;36074901;37161035 False 3 75;25;0 8.173 False ENSG00000185883 ENSG00000185883 HGNC:855 ATP6V1A gene ATP6V1A Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000114573 ENSG00000114573 HGNC:851 ATP7A gene ATP7A Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease 309400 7842019;10739752;14635105 False 3 67;33;0 8.173 False ENSG00000165240 ENSG00000165240 HGNC:869 ATRX gene ATRX Expert;Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000085224 ENSG00000085224 HGNC:886 BAP1 gene BAP1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kury-Isidor syndrome, OMIM:619762 35051358 False 3 100;0;0 8.173 False ENSG00000163930 ENSG00000163930 HGNC:950 BCKDHA gene BCKDHA Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ia 248600 2703538;8037208;9582350;31119508;31112740 False 3 67;33;0 8.173 False ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ib 248600 31119508;31112740 False 3 67;33;0 8.173 False ENSG00000083123 ENSG00000083123 HGNC:987 BCS1L gene BCS1L Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000074582 ENSG00000074582 HGNC:1020 BOLA3 gene BOLA3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299 24334290;11156534 False 3 67;33;0 8.173 False ENSG00000163170 ENSG00000163170 HGNC:24415 BRAF gene BRAF Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 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 Expert Review;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Rigidity and multifocal seizure syndrome, lethal neonatal 614498 25319849;23035047;22279524 False 3 67;33;0 8.173 False ENSG00000106009 ENSG00000106009 HGNC:21701 BRSK1 gene BRSK1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092 41035394 False 3 100;0;0 8.173 False ENSG00000160469 ENSG00000160469 HGNC:18994 BSCL2 gene BSCL2 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924 24896178;26503795;23564749;15181077;30767895;23564749;31369919 False 3 67;33;0 8.173 False ENSG00000168000 ENSG00000168000 HGNC:15832 BTD gene BTD Expert;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency 253260 24075304;4073853;3196050;10801053 False 3 29;14;57 8.173 False ENSG00000169814 ENSG00000169814 HGNC:1122 C12orf57 gene C12orf57 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Temtamy syndrome 218340 23453666;24798461;23633300;23453665;29383837 False 3 67;33;0 8.173 False ENSG00000111678 ENSG00000111678 HGNC:29521 C12orf66 gene C12orf66 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 83, OMIM:621100 39824192 False 3 100;0;0 8.173 False ENSG00000174206 ENSG00000174206 HGNC:26517 C2orf69 gene C2orf69 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 53, OMIM:619423 34038740;33945503 False 3 100;0;0 8.173 False ENSG00000178074 ENSG00000178074 HGNC:26799 CACNA1A gene CACNA1A Expert;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1B gene CACNA1B Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000148408 ENSG00000148408 HGNC:1389 CACNA1C gene CACNA1C Expert list;Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Timothy syndrome OMIM:601005;CACNA1C-related disorder 15454078;15863612;28371864 False 3 100;0;0 8.173 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1D gene CACNA1D Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True Other ENSG00000157388 ENSG00000157388 HGNC:1391 CACNA1E gene CACNA1E Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Seizures;Dystonia;Congenital contracture;Macrocephaly 29942082;30343943 False 3 75;25;0 8.173 False Other ENSG00000198216 ENSG00000198216 HGNC:1392 CACNA1G gene CACNA1G Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 42 616795 17397049;25558065;28726809;29878067 False 3 67;33;0 8.173 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 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with speech impairment and with or without seizures, OMIM:620114 33704440 False 3 100;0;0 8.173 False Other ENSG00000100346 ENSG00000100346 HGNC:1396 CACNA2D2 gene CACNA2D2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Absence epilepsy;Cerebellar atrophy with seizures and variable developmental delay, 618501 24358150;23339110;11487633;11756448 False 3 40;60;0 8.173 False ENSG00000007402 ENSG00000007402 HGNC:1400 CAD gene CAD Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 50, OMIM:616457 25678555;28007989 False 3 67;33;0 8.173 False ENSG00000084774 ENSG00000084774 HGNC:1424 CAMSAP1 gene CAMSAP1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316 36283405 False 3 100;0;0 8.173 False ENSG00000130559 ENSG00000130559 HGNC:19946 CAPRIN1 gene CAPRIN1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 23849776;35979925;36136249;35977029;28135719;31398340 False 3 100;0;0 8.173 False ENSG00000135387 ENSG00000135387 HGNC:6743 CARS2 gene CARS2 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 27, 616672 25361775;25787132;30139652;32571458;32348839 False 3 100;0;0 8.173 False ENSG00000134905 ENSG00000134905 HGNC:25695 CASK gene CASK Expert;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000147044 ENSG00000147044 HGNC:1497 CC2D2A gene CC2D2A Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal COACH syndrome 216360;Joubert syndrome 9 612285 22241855;19574260 False 3 67;33;0 8.173 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC88A gene CCDC88A Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal PEHO syndrome-like, OMIM:617507 26917597;30392057;37798908;39334473 False 3 33;67;0 8.173 False ENSG00000115355 ENSG00000115355 HGNC:25523 CDK19 gene CDK19 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile 87 618916 20563892;32330417 False 3 67;33;0 8.173 False ENSG00000155111 ENSG00000155111 HGNC:19338 CDK5 gene CDK5 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342;lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596 25560765;40186457;28854363;8855328 False 3 100;0;0 8.173 False ENSG00000164885 ENSG00000164885 HGNC:1774 CDKL5 gene CDKL5 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000008086 ENSG00000008086 HGNC:11411 CELF2 gene CELF2 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 97, OMIM:619561 33131106;34107259 False 3 100;0;0 8.173 False ENSG00000048740 ENSG00000048740 HGNC:2550 CEP85L gene CEP85L Expert Review Green;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 10, OMIM:618873;Lissencephaly 10, MONDO:0030031 32097630;32097629 False 3 100;0;0 8.173 False ENSG00000111860 ENSG00000111860 HGNC:21638 CERS1 gene CERS1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000223802 ENSG00000223802 HGNC:14253 CHD2 gene CHD2 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, childhood-onset 615369 False 3 83;17;0 8.173 False ENSG00000173575 ENSG00000173575 HGNC:1917 CHD4 gene CHD4 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sifrim-Hitz-Weiss syndrome, OMIM:617159 27479907;27616479;34109749 False 3 100;0;0 8.173 False ENSG00000111642 ENSG00000111642 HGNC:1919 CHD5 gene CHD5 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted OMIM:610771;Intellectual disability, MONDO:0001071;Epilepsy, MONDO:0005027 33944996 False 3 100;0;0 8.173 False ENSG00000116254 ENSG00000116254 HGNC:16816 CHKA gene CHKA Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000110721 ENSG00000110721 HGNC:1937 CHRNA2 gene CHRNA2 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, nocturnal frontal lobe, type 4, OMIM:610353;autosomal dominant nocturnal frontal lobe epilepsy 4, MONDO:0012474 16826524;25770198;25847220;30809122 False 3 67;11;22 8.173 False ENSG00000120903 ENSG00000120903 HGNC:1956 CHRNA4 gene CHRNA4 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, nocturnal frontal lobe, 1 600513 7550350;14623738 False 3 71;14;14 8.173 False ENSG00000101204 ENSG00000101204 HGNC:1958 CHRNB2 gene CHRNB2 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, nocturnal frontal lobe, 3 605375 11062464;11104662 False 3 62;12;25 8.173 False ENSG00000160716 ENSG00000160716 HGNC:1962 CIC gene CIC Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 45 617600 21076407;28288114;24896178 False 3 67;33;0 8.173 False ENSG00000079432 ENSG00000079432 HGNC:14214 CLCN3 gene CLCN3 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 False Other ENSG00000109572 ENSG00000109572 HGNC:2021 CLCN4 gene CLCN4 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000073464 ENSG00000073464 HGNC:2022 CLDN5 gene CLDN5 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted epilepsy, MONDO:0005027 36477332 False 3 100;0;0 8.173 False ENSG00000184113 ENSG00000184113 HGNC:2047 CLN3 gene CLN3 Expert;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3 204200 7553855;24827497;30053402 False 3 29;14;57 8.173 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN8 gene CLN8 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000182372 ENSG00000182372 HGNC:2079 CLPB gene CLPB Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000162129 ENSG00000162129 HGNC:30664 CLTC gene CLTC Expert Review Green;NHS GMS;Other;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 56, OMIM:617854 26822784;29100083 False 3 67;33;0 8.173 False ENSG00000141367 ENSG00000141367 HGNC:2092 CNKSR2 gene CNKSR2 Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000149970 ENSG00000149970 HGNC:19701 CNNM2 gene CNNM2 Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000148842 ENSG00000148842 HGNC:103 CNOT9 gene CNOT9 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted epilepsy, MONDO:0005027 37092538 False 3 100;0;0 8.173 False ENSG00000144580 ENSG00000144580 HGNC:10445 CNPY3 gene CNPY3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 60 617929 29394991 False 3 33;67;0 8.173 True ENSG00000137161 ENSG00000137161 HGNC:11968 CNTN2 gene CNTN2 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, early-onset, 5, with or without developmental delay, OMIM:615400 23518707;34691156;36553572;37359369 False 3 60;40;0 8.173 False ENSG00000184144 ENSG00000184144 HGNC:2172 CNTNAP2 gene CNTNAP2 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000174469 ENSG00000174469 HGNC:13830 COG7 gene COG7 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIe, 608779 15107842;17356545;19577670 False 3 67;33;0 8.173 False ENSG00000168434 ENSG00000168434 HGNC:18622 COL18A1 gene COL18A1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000182871 ENSG00000182871 HGNC:2195 COL4A1 gene COL4A1 Expert;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Expert;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Porencephaly 2 614483 22209246;30315939 False 3 29;14;57 8.173 False ENSG00000134871 ENSG00000134871 HGNC:2203 COL4A3BP gene COL4A3BP Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 34, OMIM:616351 25533962;33347465;34688657;36976648;37892645 False 3 100;0;0 8.173 False ENSG00000113163 ENSG00000113163 HGNC:2205 COQ2 gene COQ2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, OMIM:607426 17855635;16400613;17332895 False 3 67;33;0 8.173 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7 616276 25658047;26185144 False 3 67;33;0 8.173 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ9 gene COQ9 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5, 614654 19375058;26081641 False 3 67;33;0 8.173 False ENSG00000088682 ENSG00000088682 HGNC:25302 CPLX1 gene CPLX1 Expert list;Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000168993 ENSG00000168993 HGNC:2309 CREBBP gene CREBBP Expert list;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 1 180849 20684013;18792986 False 3 50;25;25 8.173 False ENSG00000005339 ENSG00000005339 HGNC:2348 CRELD1 gene CRELD1 Expert Review;Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771;Jeffries-Lakhani neurodevelopmental syndrome, MONDO:0958329 32437232;37947183 False 3 100;0;0 8.173 False Other ENSG00000163703 ENSG00000163703 HGNC:14630 CRNKL1 gene CRNKL1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436;complex neurodevelopmental disorder, MONDO:0100038 40857589 False 3 100;0;0 8.173 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000101343 ENSG00000101343 HGNC:15762 CSNK2B gene CSNK2B Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000204435 ENSG00000204435 HGNC:2460 CSTB gene CSTB Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 28378817;21757863;15329070;9012407;8596935;17003839 False 3 38;12;50 8.173 False ENSG00000160213 ENSG00000160213 HGNC:2482 CTNNA2 gene CTNNA2 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174 30013181 False 3 67;33;0 8.173 False ENSG00000066032 ENSG00000066032 HGNC:2510 CTSD gene CTSD Expert;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, 610127 26059544;29284168;10995834;16670177 False 3 29;14;57 8.173 False ENSG00000117984 ENSG00000117984 HGNC:2529 CTSF gene CTSF Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362;neuronal ceroid lipofuscinosis 13, MONDO:0014147 16508006;39720560 False 3 50;50;0 8.173 False ENSG00000174080 ENSG00000174080 HGNC:2531 CUL3 gene CUL3 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000036257 ENSG00000036257 HGNC:2553 CUL4B gene CUL4B Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000158290 ENSG00000158290 HGNC:2555 CUX1 gene CUX1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay with or without impaired intellectual development, OMIM:618330;global developmental delay with or without impaired intellectual development, MONDO:0032680 37644171 False 3 100;0;0 8.173 False ENSG00000257923 ENSG00000257923 HGNC:2557 CUX2 gene CUX2 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000111249 ENSG00000111249 HGNC:19347 CYFIP2 gene CYFIP2 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 65, 618008 29534297;29667327;30664714 False 3 67;33;0 8.173 False Other ENSG00000055163 ENSG00000055163 HGNC:13760 D2HGDH gene D2HGDH Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000180902 ENSG00000180902 HGNC:28358 DBT gene DBT Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type II, 248600;seizures;convulsions 31112740;31119508 False 3 67;33;0 8.173 False ENSG00000137992 ENSG00000137992 HGNC:2698 DCX gene DCX Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000077279 ENSG00000077279 HGNC:2714 DDC gene DDC Expert Review Green;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000132437 ENSG00000132437 HGNC:2719 DDX3X gene DDX3X Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000215301 ENSG00000215301 HGNC:2745 DEAF1 gene DEAF1 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Dyskinesia, seizures, and intellectual developmental disorder, 617171 26048982;28940898;26834045;30109124;30923367 False 3 60;20;20 8.173 True ENSG00000177030 ENSG00000177030 HGNC:14677 DEGS1 gene DEGS1 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy hypomyelinating 18, 618404;seizures 30620337;30620338;31186544 False 3 67;33;0 8.173 False ENSG00000143753 ENSG00000143753 HGNC:13709 DENND5A gene DENND5A Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 49, 617281 27431290, 27866705 False 3 67;33;0 8.173 False ENSG00000184014 ENSG00000184014 HGNC:19344 DEPDC5 gene DEPDC5 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000100150 ENSG00000100150 HGNC:18423 DHDDS gene DHDDS Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 67;33;0 8.173 False ENSG00000117682 ENSG00000117682 HGNC:20603 DHPS gene DHPS Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000095059 ENSG00000095059 HGNC:2869 DHX30 gene DHX30 Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with severe motor impairment and absent language 617804 29100085;28327206 False 3 67;33;0 8.173 False ENSG00000132153 ENSG00000132153 HGNC:16716 DIAPH1 gene DIAPH1 Expert Review Green;NHS GMS;Other;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Seizures, cortical blindness, microcephaly syndrome, MIM:616632 24781755; 26463574 False 3 50;50;0 8.173 False ENSG00000131504 ENSG00000131504 HGNC:2876 DLL1 gene DLL1 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000198719 ENSG00000198719 HGNC:2908 DMXL2 gene DMXL2 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 81, MIM 618663;Ohtahara syndrome 25248098;30237576;31688942;30732576 False 3 100;0;0 8.173 False ENSG00000104093 ENSG00000104093 HGNC:2938 DNAJC6 gene DNAJC6 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 3 50;50;0 8.173 False ENSG00000116675 ENSG00000116675 HGNC:15469 DNM1 gene DNM1 Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 31, OMIM:616346 25262651;27066543;33372033;34172529;36413998 False 3 71;29;0 8.173 False ENSG00000106976 ENSG00000106976 HGNC:2972 DNM1L gene DNM1L Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000087470 ENSG00000087470 HGNC:2973 DOCK7 gene DOCK7 Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23;EIEE23 Perrault et al (2014) AJHG 94(6). 891-897 False 3 83;17;0 8.173 False ENSG00000116641 ENSG00000116641 HGNC:19190 DOLK gene DOLK Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000175283 ENSG00000175283 HGNC:23406 DPAGT1 gene DPAGT1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ij, 608093 False 3 67;33;0 8.173 False ENSG00000172269 ENSG00000172269 HGNC:2995 DPH5 gene DPH5 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070 35482014 False 3 67;33;0 8.173 False ENSG00000117543 ENSG00000117543 HGNC:24270 DPM1 gene DPM1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, OMIM:608799 23856421;10642597;10642602 False 3 67;33;0 8.173 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPYD gene DPYD Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal 5-fluorouracil toxicity 274270;Dihydropyrimidine dehydrogenase deficiency 274270 False 3 67;33;0 8.173 False ENSG00000188641 ENSG00000188641 HGNC:3012 DROSHA gene DROSHA Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 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 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Global developmental delay;Intellectual disability;Microcephaly;Seizures;Global brain atrophy;Cardiorespiratory arrest 31271740;34918187;35346037 False 3 100;0;0 8.173 False ENSG00000168393 ENSG00000168393 HGNC:3061 DYNC1H1 gene DYNC1H1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000197102 ENSG00000197102 HGNC:2961 DYRK1A gene DYRK1A Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 PMID: 25707398;21294719;23160955;23099646 False 3 83;17;0 8.173 False ENSG00000157540 ENSG00000157540 HGNC:3091 EARS2 gene EARS2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000103356 ENSG00000103356 HGNC:29419 EEF1A2 gene EEF1A2 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 33 616409 23033978;23647072;28911200;28378778;27652284;30109124 False 3 17;17;67 8.173 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 EEFSEC gene EEFSEC Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain abnormalities, OMIM:621102 39753114 False 3 100;0;0 8.173 False ENSG00000132394 ENSG00000132394 HGNC:24614 EFTUD2 gene EFTUD2 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mandibulofacial dysostosis, Guion-Almeida type 610536 22305528;19334086 False 3 33;67;0 8.173 False ENSG00000108883 ENSG00000108883 HGNC:30858 EHMT1 gene EHMT1 Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kleefstra syndrome PMID: 16826528 False 3 83;17;0 8.173 False ENSG00000181090 ENSG00000181090 HGNC:24650 EIF2B1 gene EIF2B1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 25843247;25761052 False 3 67;33;0 8.173 True ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 25843247;22678813 False 3 67;33;0 8.173 False ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 19158808 False 3 67;33;0 8.173 True ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 25843247;26043506;29331873;30073106 False 3 67;33;0 8.173 False ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000145191 ENSG00000145191 HGNC:3261 EIF2S3 gene EIF2S3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females MEHMO syndrome, 300148 28055140, 27333055, 23063529;9781023 False 3 67;33;0 8.173 False ENSG00000130741 ENSG00000130741 HGNC:3267 EIF3F gene EIF3F Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 67, OMIM:618295 30409806 False 3 67;33;0 8.173 False ENSG00000175390 ENSG00000175390 HGNC:3275 EIF4A2 gene EIF4A2 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder 36528028 False 3 100;0;0 8.173 False ENSG00000156976 ENSG00000156976 HGNC:3284 ELFN1 gene ELFN1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092 40576023;34509675;34452636 False 3 100;0;0 8.173 False ENSG00000225968 ENSG00000225968 HGNC:33154 EMC10 gene EMC10 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264 32869858;33531666 False 3 100;0;0 8.173 False ENSG00000161671 ENSG00000161671 HGNC:27609 EML1 gene EML1 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Band heterotopia, OMIM:600348 24859200; 28556411 False 3 50;50;0 8.173 False ENSG00000066629 ENSG00000066629 HGNC:3330 ENTPD1 gene ENTPD1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 64, autosomal recessive, OMIM:615683 35471564;28742222 False 3 67;33;0 8.173 False ENSG00000138185 ENSG00000138185 HGNC:3363 EPB41L3 gene EPB41L3 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Developmental disorder with seizures and myelination defects 39292993 False 3 100;0;0 8.173 False ENSG00000082397 ENSG00000082397 HGNC:3380 EPG5 gene EPG5 Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000152223 ENSG00000152223 HGNC:29331 EPM2A gene EPM2A Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Myoclonic epilepsy of Lafora 1, OMIM:254780 14722920;10932264;16134145;11175283 False 3 17;17;67 8.173 False ENSG00000112425 ENSG00000112425 HGNC:3413 ESAM gene ESAM Expert Review;Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371 36996813 False 3 100;0;0 8.173 False ENSG00000149564 ENSG00000149564 HGNC:17474 ETHE1 gene ETHE1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy, 602473 False 3 67;33;0 8.173 False ENSG00000105755 ENSG00000105755 HGNC:23287 EXOSC3 gene EXOSC3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, OMIM:614678 25144110;25149867;23975261;23284067 False 3 67;33;0 8.173 False ENSG00000107371 ENSG00000107371 HGNC:17944 EXT2 gene EXT2 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000151348 ENSG00000151348 HGNC:3513 FAR1 gene FAR1 Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000197601 ENSG00000197601 HGNC:26222 FARS2 gene FARS2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 14, 614946 24161539;22833457;22499341;29126765 False 3 67;33;0 8.173 False ENSG00000145982 ENSG00000145982 HGNC:21062 FASTKD2 gene FASTKD2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 44, OMIM:618855 18771761;28499982;31944455;35729327 False 3 25;75;0 8.173 False ENSG00000118246 ENSG00000118246 HGNC:29160 FBXL4 gene FBXL4 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000112234 ENSG00000112234 HGNC:13601 FBXO11 gene FBXO11 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089 30057029;29796876 False 3 33;67;0 8.173 False ENSG00000138081 ENSG00000138081 HGNC:13590 FBXO28 gene FBXO28 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000143756 ENSG00000143756 HGNC:29046 FGF12 gene FGF12 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 47, 617166 27830185, 27872899, 27164707, 29699863 False 3 67;33;0 8.173 False ENSG00000114279 ENSG00000114279 HGNC:3668 FGF13 gene FGF13 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000129682 ENSG00000129682 HGNC:3670 FGFR3 gene FGFR3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000068078 ENSG00000068078 HGNC:3690 FKTN gene FKTN Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLNA gene FLNA Expert Review Green;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000196924 ENSG00000196924 HGNC:3754 FLVCR1 gene FLVCR1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060;neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126 39306721 False 3 100;0;0 8.173 False ENSG00000162769 ENSG00000162769 HGNC:24682 FOLR1 gene FOLR1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, 613068;seizures 19732866;20857335;25046240 False 3 67;33;0 8.173 False ENSG00000110195 ENSG00000110195 HGNC:3791 FOXG1 gene FOXG1 Expert;Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000176165 ENSG00000176165 HGNC:3811 FOXRED1 gene FOXRED1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000110074 ENSG00000110074 HGNC:26927 FRMD5 gene FRMD5 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094 36206744 False 3 100;0;0 8.173 False ENSG00000171877 ENSG00000171877 HGNC:28214 FRRS1L gene FRRS1L Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile 37, 616981 27236917;27239025 False 3 67;33;0 8.173 False ENSG00000260230 ENSG00000260230 HGNC:1362 FUCA1 gene FUCA1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Fucosidosis, 230000;seizures 10094192;27706744;29588375;8504303 False 3 67;33;0 8.173 False ENSG00000179163 ENSG00000179163 HGNC:4006 FUK gene FUK Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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;35718084;36426412 False 3 40;60;0 8.173 False ENSG00000157353 ENSG00000157353 HGNC:29500 FUT8 gene FUT8 Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation, 618005;seizures 29304374 False 3 67;33;0 8.173 False ENSG00000033170 ENSG00000033170 HGNC:4019 FZR1 gene FZR1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 109, OMIM:620145 31318984;34788397 False 3 100;0;0 8.173 False ENSG00000105325 ENSG00000105325 HGNC:24824 GABBR2 gene GABBR2 Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 59, OMIM:617904 29100083;28061363;28135719;28856709;39028675 False 3 17;17;67 8.173 False ENSG00000136928 ENSG00000136928 HGNC:4507 GABRA1 gene GABRA1 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000022355 ENSG00000022355 HGNC:4075 GABRA2 gene GABRA2 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000151834 ENSG00000151834 HGNC:4076 GABRA5 gene GABRA5 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 79, 618559 29961870;31056671 False 3 100;0;0 8.173 False ENSG00000186297 ENSG00000186297 HGNC:4079 GABRB1 gene GABRB1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000163288 ENSG00000163288 HGNC:4081 GABRB2 gene GABRB2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, infantile or early childhood, 2, 617829 29100083;27789573;25124326 False 3 67;33;0 8.173 False ENSG00000145864 ENSG00000145864 HGNC:4082 GABRB3 gene GABRB3 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000166206 ENSG00000166206 HGNC:4083 GABRD gene GABRD Expert;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 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 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000113327 ENSG00000113327 HGNC:4087 GAD1 gene GAD1 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000128683 ENSG00000128683 HGNC:4092 GALC gene GALC Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Krabbe disease, OMIM:245200 21070211;29391017;30089515;20886637 False 3 67;33;0 8.173 False ENSG00000054983 ENSG00000054983 HGNC:4115 GALNT2 gene GALNT2 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIt OMIM:618885 27508872;32293671 False 3 100;0;0 8.173 False ENSG00000143641 ENSG00000143641 HGNC:4124 GAMT gene GAMT Expert;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000130005 ENSG00000130005 HGNC:4136 GBA gene GBA Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000177628 ENSG00000177628 HGNC:4177 GCSH gene GCSH Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423;Glycine encephalopathy;Transient neonatal hyperglycinemia 1671321;36190515 False 3 40;20;40 8.173 False ENSG00000140905 ENSG00000140905 HGNC:4208 GFAP gene GFAP Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alexander disease, 203450;seizures 11567214;12034785;29801191;20301351;16505300 False 3 67;33;0 8.173 False ENSG00000131095 ENSG00000131095 HGNC:4235 GLB1 gene GLB1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type II, 230600;seizures 1909089;1907800;12644936;12644936 False 3 67;33;0 8.173 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLDC gene GLDC Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy, 605899;seizures 10798358;15864413;29304759;29239742;29300369;15557500 False 3 67;33;0 8.173 False ENSG00000178445 ENSG00000178445 HGNC:4313 GLRA2 gene GLRA2 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 False Other ENSG00000101958 ENSG00000101958 HGNC:4327 GLS gene GLS Expert list;Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 71, OMIM:618328 30575854;39559284 False 3 50;50;0 8.173 False ENSG00000115419 ENSG00000115419 HGNC:4331 GLUD1 gene GLUD1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism-hyperammonemia syndrome, 606762;epilepsy 19046187;10636977;9571255;11214910 False 3 67;33;0 8.173 False ENSG00000148672 ENSG00000148672 HGNC:4335 GLUL gene GLUL Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Glutamine deficiency, congenital, OMIM:610015;Developmental and epileptic encephalopathy 116, OMIM:620806;congenital brain dysgenesis due to glutamine synthetase deficiency, MONDO:0012393;developmental and epileptic encephalopathy 116, MONDO:0970945 16267323;21353613;30158707;38579670;39985170;41083803 False 3 75;25;0 8.173 False ENSG00000135821 ENSG00000135821 HGNC:4341 GM2A gene GM2A Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000196743 ENSG00000196743 HGNC:4367 GNAO1 gene GNAO1 Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPILEPTIC ENCEPHALOPATHY;Epileptic encephalopathy, early infantile, 17 Nakamura (2013);Saitsu (2015) False 3 83;17;0 8.173 False ENSG00000087258 ENSG00000087258 HGNC:4389 GNAQ gene GNAQ Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sturge-Weber syndrome, somatic, mosaic, OMIM:185300 25374402;23656586;28126187;34124757 False 3 33;67;0 8.173 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 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False Other ENSG00000078369 ENSG00000078369 HGNC:4396 GNB5 gene GNB5 Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173 27523599;27677260;28697420;29368331 False 3 33;33;33 8.173 True ENSG00000069966 ENSG00000069966 HGNC:4401 GOSR2 gene GOSR2 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 6, 614018 21549339;30363482;24458321;27618868;23449775 False 3 38;12;50 8.173 False ENSG00000108433 ENSG00000108433 HGNC:4431 GOT2 gene GOT2 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 82, OMIM:618721;Developmental and epileptic encephalopathy, 82, MONDO:0032880 31422819 False 3 67;33;0 8.173 False ENSG00000125166 ENSG00000125166 HGNC:4433 GPAA1 gene GPAA1 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 15, 617810 29100095;24896178 False 3 67;33;0 8.173 False ENSG00000197858 ENSG00000197858 HGNC:4446 GPHN gene GPHN Expert;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000171723 ENSG00000171723 HGNC:15465 GRIA2 gene GRIA2 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000120251 ENSG00000120251 HGNC:4572 GRIA4 gene GRIA4 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 29220673;18316356 False 3 67;33;0 8.173 False ENSG00000152578 ENSG00000152578 HGNC:4574 GRIK2 gene GRIK2 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000164418 ENSG00000164418 HGNC:4580 GRIN1 gene GRIN1 Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000176884 ENSG00000176884 HGNC:4584 GRIN2A gene GRIN2A Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000183454 ENSG00000183454 HGNC:4585 GRIN2B gene GRIN2B Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000273079 ENSG00000273079 HGNC:4586 GRIN2D gene GRIN2D Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 46 617162 27616483;30280376 False 3 50;50;0 8.173 False ENSG00000105464 ENSG00000105464 HGNC:4588 GRM7 gene GRM7 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922 32286009;32248644 False 3 100;0;0 8.173 False ENSG00000196277 ENSG00000196277 HGNC:4599 GRN gene GRN Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 11, OMIM:614706;neuronal ceroid lipofuscinosis 1, MONDO:0013866 31855245;28404863;30922528 False 3 100;0;0 8.173 False ENSG00000030582 ENSG00000030582 HGNC:4601 GTF3C3 gene GTF3C3 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201 28940097;28097321;30552426;40040844 False 3 40;60;0 8.173 False ENSG00000119041 ENSG00000119041 HGNC:4666 GTPBP2 gene GTPBP2 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Jaberi-Elahi syndrome 617988;Global developmental delay;Intellectual disability;Seizures 26675814;29449720;25061210 False 3 33;67;0 8.173 False ENSG00000172432 ENSG00000172432 HGNC:4670 H3F3A gene H3F3A Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay;Intellectual disability;Neurodegeneration;Epilepsy;Facial dysmorphism;Congenital anomalies 33268356 False 3 40;20;40 8.173 False ENSG00000163041 ENSG00000163041 HGNC:4764 H3F3B gene H3F3B Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay;Intellectual disability;Neurodegeneration;Epilepsy;Facial dysmorphism;Congenital anomalies 33268356 False 3 33;17;50 8.173 False ENSG00000132475 ENSG00000132475 HGNC:4765 HACE1 gene HACE1 Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia and psychomotor retardation with or without seizures 616756 26424145;26437029;29423242;31321300;33813722 False 3 67;33;0 8.173 False ENSG00000085382 ENSG00000085382 HGNC:21033 HAX1 gene HAX1 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital 3, autosomal recessive, 610738 18611981 False 3 50;50;0 8.173 False ENSG00000143575 ENSG00000143575 HGNC:16915 HCFC1 gene HCFC1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000172534 ENSG00000172534 HGNC:4839 HCN1 gene HCN1 Expert Review;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000164588 ENSG00000164588 HGNC:4845 HCN2 gene HCN2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Generalized epilepsy with febrile seizures plus, type 11, OMIM:602477;neurodevelopmental disorder, MONDO:0700092 29064616;20437590;12514127;17931874;22131395;40468825 False 3 50;50;0 8.173 True ENSG00000099822 ENSG00000099822 HGNC:4846 HECTD4 gene HECTD4 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250 36401616 False 3 100;0;0 8.173 False ENSG00000173064 ENSG00000173064 HGNC:26611 HECW2 gene HECW2 Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with hypotonia, seizures, and absent language 617268 27389779;27334371;34321324 False 3 67;33;0 8.173 False ENSG00000138411 ENSG00000138411 HGNC:29853 HEPACAM gene HEPACAM Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925 27389245;21419380 False 3 75;25;0 8.173 True ENSG00000165478 ENSG00000165478 HGNC:26361 HERC2 gene HERC2 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 38, OMIM:615516 23065719;23243086;30902390;32571899;27848944;26077850;27759030 False 3 100;0;0 8.173 False ENSG00000128731 ENSG00000128731 HGNC:4868 HEXA gene HEXA Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms, 272800;Tay-Sachs disease, 272800 30006889;21937992;7551830;14972652 False 3 67;33;0 8.173 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 2967418;21153386;22848519;30075786;28553389;7626071 False 3 33;67;0 8.173 False ENSG00000049860 ENSG00000049860 HGNC:4879 HID1 gene HID1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Syndromic infantile encephalopathy;Hypopituitarism;Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983 33999436 False 3 100;0;0 8.173 False ENSG00000167861 ENSG00000167861 HGNC:15736 HMGCL gene HMGCL Expert Review Green;NHS GMS;Other;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000117305 ENSG00000117305 HGNC:5005 HNRNPH2 gene HNRNPH2 Expert Review Green;NHS GMS;Other;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000126945 ENSG00000126945 HGNC:5042 HNRNPR gene HNRNPR Expert Review Green;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000125944 ENSG00000125944 HGNC:5047 HNRNPU gene HNRNPU Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 54, OMIM:617391 22190369;25356899;27652284;23708187 False 3 17;17;67 8.173 False ENSG00000153187 ENSG00000153187 HGNC:5048 HPDL gene HPDL Expert Review Green;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000186603 ENSG00000186603 HGNC:28242 HRAS gene HRAS Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Costello syndrome, 218040;Schimmelpenning-Feuerstein-Mims syndrome, 218040 28337834;27195699;26888048;22926243 False 3 67;33;0 8.173 False ENSG00000174775 ENSG00000174775 HGNC:5173 HSD17B10 gene HSD17B10 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 3 100;0;0 8.173 False ENSG00000072506 ENSG00000072506 HGNC:4800 HSD17B4 gene HSD17B4 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency, 261515 9345094;9482850;9915948;11743515;25967389 False 3 67;33;0 8.173 False ENSG00000133835 ENSG00000133835 HGNC:5213 HTRA2 gene HTRA2 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII False 3 67;33;0 8.173 False ENSG00000115317 ENSG00000115317 HGNC:14348 IER3IP1 gene IER3IP1 Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Other;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, 614231;MEDS 21835305;22991235;24138066 False 3 67;33;0 8.173 False ENSG00000134049 ENSG00000134049 HGNC:18550 IFIH1 gene IFIH1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aicardi-Goutieres syndrome 7, OMIM:615846 24995871;29239743;25604658;24686847;29270977 False 3 67;33;0 8.173 False ENSG00000115267 ENSG00000115267 HGNC:18873 IKBKG gene IKBKG Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Incontinentia pigmenti, OMIM:308300 30151858;28794079;24339369;28870493 False 3 75;25;0 8.173 True ENSG00000073009 ENSG00000269335 HGNC:5961 INPP4A gene INPP4A Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 21937992;31978615;31938306;25338135;20011524;36653678;39315527;40748307;40772914 False 3 20;20;60 8.173 False ENSG00000040933 ENSG00000040933 HGNC:6074 IQSEC2 gene IQSEC2 Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000124313 ENSG00000124313 HGNC:29059 IRF2BPL gene IRF2BPL Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000119669 ENSG00000119669 HGNC:14282 ITPA gene ITPA Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 35, 616647 False 3 67;33;0 8.173 False ENSG00000125877 ENSG00000125877 HGNC:6176 KARS gene KARS Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000065427 ENSG00000065427 HGNC:6215 KAT5 gene KAT5 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000172977 ENSG00000172977 HGNC:5275 KAT8 gene KAT8 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 False Other ENSG00000103510 ENSG00000103510 HGNC:17933 KCNA1 gene KCNA1 Expert;Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia/ myokymia syndrome, OMIM:160120;epilepsy, MONDO:0005027 29056246;11026449;9581771;24578548;30055040;31586945;32316562;34778950 False 3 29;0;71 8.173 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNA2 gene KCNA2 Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000177301 ENSG00000177301 HGNC:6220 KCNA3 gene KCNA3 Expert Review;Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 37964487 False 3 100;0;0 8.173 False ENSG00000177272 ENSG00000177272 HGNC:6221 KCNB1 gene KCNB1 Expert Review;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000158445 ENSG00000158445 HGNC:6231 KCNC1 gene KCNC1 Expert Review;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, progressive myoclonic 7 616187 25401298;28145425 False 3 17;17;67 8.173 False ENSG00000129159 ENSG00000129159 HGNC:6233 KCNC2 gene KCNC2 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted epileptic encephalopathy;spastic tetraplegia;opisthotonus attacks;intellectual disability;West syndrome 32392612;31972370;35314505 False 3 75;25;0 8.173 False ENSG00000166006 ENSG00000166006 HGNC:6234 KCND2 gene KCND2 Expert list;Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown epilepsy, NBO:0000642;seizure, HP:0001250 24501278;16934482;29581270;34245260 False 3 33;17;50 8.173 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 KCND3 gene KCND3 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 19 (OMIM: 607346);spinocerebellar ataxia type 19/22, MONDO:0011819 26189493;28895081;32823520;31293010;32921676 False 3 100;0;0 8.173 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCNH1 gene KCNH1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000143473 ENSG00000143473 HGNC:6250 KCNH5 gene KCNH5 Expert list;Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 112, OMIM:620537 23647072;35874597;36307226;24133262 False 3 50;17;33 8.173 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 KCNJ10 gene KCNJ10 Expert;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME);SESAME syndrome Scholl et al (2009) False 3 83;17;0 8.173 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ11 gene KCNJ11 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 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 Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental delay;Intellectual disability;Seizures;Gingival overgrowth;Hypertrichosis 30290154 False 3 33;67;0 8.173 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;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000156113 ENSG00000156113 HGNC:6284 KCNQ2 gene KCNQ2 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign neonatal, type 2 False 3 83;17;0 8.173 False ENSG00000184156 ENSG00000184156 HGNC:6297 KCNQ5 gene KCNQ5 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 46, 617601 28669405;30359776 False 3 67;33;0 8.173 False ENSG00000185760 ENSG00000185760 HGNC:6299 KCNT1 gene KCNT1 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000107147 ENSG00000107147 HGNC:18865 KCNT2 gene KCNT2 Expert list;Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 57, OMIM:617771;developmental and epileptic encephalopathy, 57, MONDO:0033366 29069600;29740868;37062836 False 3 75;25;0 8.173 False ENSG00000162687 ENSG00000162687 HGNC:18866 KCTD3 gene KCTD3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal No OMIM number;Epileptic encephalopathy 29406573;27848944;25558065 False 3 67;33;0 8.173 False ENSG00000136636 ENSG00000136636 HGNC:21305 KCTD7 gene KCTD7 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726 22693283;22748208 False 3 17;17;67 8.173 False ENSG00000243335 ENSG00000243335 HGNC:21957 KDM6B gene KDM6B Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology 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 3 100;0;0 8.173 False ENSG00000132510 ENSG00000132510 HGNC:29012 KIAA1109 gene KIAA1109 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Alkuraya-Kucinskas syndrome 617822;seizures 29290337;19640479;30906834 False 3 33;67;0 8.173 True ENSG00000138688 ENSG00000138688 HGNC:26953 KIF1A gene KIF1A Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NESCAV syndrome, OMIM:614255 25265257 False 3 33;67;0 8.173 False ENSG00000130294 ENSG00000130294 HGNC:888 KIF2A gene KIF2A Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 3, 615411 27896282;27747449;23603762 False 3 33;67;0 8.173 False ENSG00000068796 ENSG00000068796 HGNC:6318 KIF5C gene KIF5C Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 2, 615282 23603762;23033978;29048727 False 3 67;33;0 8.173 False ENSG00000168280 ENSG00000168280 HGNC:6325 KLHL20 gene KLHL20 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, OMIM:621390 36214804 False 3 100;0;0 8.173 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 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000005483 ENSG00000005483 HGNC:18541 KPTN gene KPTN Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000118162 ENSG00000118162 HGNC:6404 KRAS gene KRAS Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 2, 615278 21871821;23059812;16474405;21871821;17601930 False 3 67;33;0 8.173 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 LAMC3 gene LAMC3 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Cortical malformations, occipital, OMIM:614115;occipital pachygyria and polymicrogyria, MONDO:0013583 21572413;26802095;29247375;33639934;34354730 False 3 100;0;0 8.173 False ENSG00000050555 ENSG00000050555 HGNC:6494 LARS gene LARS Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 1, MIM# 615438 32699352 False 3 100;0;0 8.173 False ENSG00000133706 ENSG00000133706 HGNC:6512 LETM1 gene LETM1 Expert Review;Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214;33815143 False 3 100;0;0 8.173 False ENSG00000168924 ENSG00000168924 HGNC:6556 LGI1 gene LGI1 Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;UKGTN;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Epilepsy, familial temporal lobe, 1, OMIM:600512;developmental and epileptic encephalopathy, MONDO:0100620 15079010;11810107;22496201;26773249;40455867;41000458 False 3 75;12;12 8.173 False ENSG00000108231 ENSG00000108231 HGNC:6572 LIAS gene LIAS Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hyperglycinemia, lactic acidosis, and seizures, 614462 False 3 67;33;0 8.173 False ENSG00000121897 ENSG00000121897 HGNC:16429 LMBRD2 gene LMBRD2 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay with variable neurologic and brain abnormalities, OMIM:619694 32820033;https://doi.org/10.1101/797787 False 3 0;100;0 8.173 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 LNPK gene LNPK Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090 30032983;35599435 False 3 33;67;0 8.173 False ENSG00000144320 ENSG00000144320 HGNC:21610 LSS gene LSS Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Alopecia-intellectual disability syndrome 4, OMIM:618840;alopecia-intellectual disability syndrome 4, MONDO:0030009 30723320;26200341;30401459;29016354 False 3 25;75;0 8.173 False ENSG00000160285 ENSG00000160285 HGNC:6708 MACF1 gene MACF1 Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 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 Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000110514 ENSG00000110514 HGNC:6766 MAF gene MAF Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ayme-Gripp syndrome 601088 25865493 False 3 67;33;0 8.173 False ENSG00000178573 ENSG00000178573 HGNC:6776 MAP2K1 gene MAP2K1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 3, 615279 18039235;27862862 False 3 67;33;0 8.173 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 4, 615280 29799162;24719372;27799067 False 3 67;33;0 8.173 False ENSG00000126934 ENSG00000126934 HGNC:6842 MARK2 gene MARK2 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 76, OMIM:621285;intellectual developmental disorder, autosomal dominant 76, MONDO:0979575 39419027;39436150 False 3 100;0;0 8.173 False ENSG00000072518 ENSG00000072518 HGNC:3332 MAST3 gene MAST3 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 34185323;35095415 False 3 100;0;0 8.173 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000099308 ENSG00000099308 HGNC:19036 MAST4 gene MAST4 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, MAST4-related 36910266;33057194 False 3 100;0;0 8.173 False ENSG00000069020 ENSG00000069020 HGNC:19037 MBD5 gene MBD5 Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000204406 ENSG00000204406 HGNC:20444 MBOAT7 gene MBOAT7 Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 57 617188 False 3 67;33;0 8.173 False ENSG00000125505 ENSG00000125505 HGNC:15505 MDH2 gene MDH2 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 51 False 3 67;33;0 8.173 False ENSG00000146701 ENSG00000146701 HGNC:6971 MECP2 gene MECP2 Expert;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000169057 ENSG00000169057 HGNC:6990 MED11 gene MED11 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327 36001086 False 3 100;0;0 8.173 False ENSG00000161920 ENSG00000161920 HGNC:32687 MED12 gene MED12 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000184634 ENSG00000184634 HGNC:11957 MED27 gene MED27 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Axial hypotonia;Spasticity;Dystonia;Cerebellar hypoplasia;Cataracts;Epilepsy 33443317 False 3 100;0;0 8.173 False ENSG00000160563 ENSG00000160563 HGNC:2377 MEF2C gene MEF2C Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000081189 ENSG00000081189 HGNC:6996 MFF gene MFF Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 False 3 67;33;0 8.173 False ENSG00000168958 ENSG00000168958 HGNC:24858 MFSD8 gene MFSD8 Expert;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7 610951 30249282;30144815;30301600;28586915 False 3 29;14;57 8.173 False ENSG00000164073 ENSG00000164073 HGNC:28486 MINPP1 gene MINPP1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 33257696;33168985 False 3 100;0;0 8.173 False ENSG00000107789 ENSG00000107789 HGNC:7102 MLC1 gene MLC1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts, 604004;generalized tonic-clonic seizures;focal seizures 21624973;29466841 False 3 67;33;0 8.173 False ENSG00000100427 ENSG00000100427 HGNC:17082 MMACHC gene MMACHC Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, 277400 20924684;17431913;30204970 False 3 67;33;0 8.173 False ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblD type, 277410 False 3 67;33;0 8.173 False ENSG00000168288 ENSG00000168288 HGNC:25221 MOCS1 gene MOCS1 Expert;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency A 252150 False 3 29;14;57 8.173 False ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 Expert;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency B 252160 False 3 29;14;57 8.173 False ENSG00000164172 ENSG00000164172 HGNC:7193 MOGS gene MOGS Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb, 606056 False 3 67;33;0 8.173 False ENSG00000115275 ENSG00000115275 HGNC:24862 MPDU1 gene MPDU1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, OMIM:609180 28122681;11733556;11733564 False 3 67;33;0 8.173 False ENSG00000129255 ENSG00000129255 HGNC:7207 MTHFR gene MTHFR Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Homocystinuria due to MTHFR deficiency, 236250;seizures 9453374;29391032;21778025;12406076;12840091;9587029;30267335;24556013 False 3 67;33;0 8.173 False ENSG00000177000 ENSG00000177000 HGNC:7436 MTHFS gene MTHFS Expert Review Green;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000136371 ENSG00000136371 HGNC:7437 MTOR gene MTOR Expert Review Green;NHS GMS;Other;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000198793 ENSG00000198793 HGNC:3942 MT-TK gene MT-TK Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MITOCHONDRIAL MERRF syndrome, MONDO:0010790 1463006;8228033;18651333;29663531;33766967 False 3 100;0;0 8.173 False ENSG00000210156 ENSG00000210156 HGNC:7489 NACC1 gene NACC1 Expert Review Green;NHS GMS;Other;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 28132692 False 3 50;50;0 8.173 False ENSG00000160877 ENSG00000160877 HGNC:20967 NAGA gene NAGA Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Schindler disease, type I, 609241;seizures 8071745;11313741;8782044 False 3 67;33;0 8.173 False ENSG00000198951 ENSG00000198951 HGNC:7631 NAPB gene NAPB Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 107, OMIM:620033 28097321;33189936;26235277;21040848 False 3 100;0;0 8.173 False ENSG00000125814 ENSG00000125814 HGNC:15751 NARS gene NARS Expert Review Green;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000134440 ENSG00000134440 HGNC:7643 NARS2 gene NARS2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 24, 616239;seizures 25385316;25629079;28077841;25807530 False 3 67;33;0 8.173 False ENSG00000137513 ENSG00000137513 HGNC:26274 NBEA gene NBEA Expert list;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000172915 ENSG00000172915 HGNC:7648 NDE1 gene NDE1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Lissencephaly 4 (with microcephaly), 614019 21529752;21529751;22526350 False 3 67;33;0 8.173 False ENSG00000072864 ENSG00000072864 HGNC:17619 NDUFA1 gene NDUFA1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, 256000 21150889;26741492;28247337 False 3 67;33;0 8.173 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFAF2 gene NDUFAF2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010 18180188;26795593;22644603 False 3 67;33;0 8.173 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF5 gene NDUFAF5 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex 1 deficiency 252010 18940309;19542079;21607760;29581464;30473481 False 3 67;33;0 8.173 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFS4 gene NDUFS4 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 256000;Mitochondrial complex I deficiency 252010 28371352;27671926;27079373;19107570;9463323;11181577 False 3 67;33;0 8.173 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS8 gene NDUFS8 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 11349233;10080174;30090137;29976978;29948731;20153825;25615419;23266820 False 3 50;50;0 8.173 False ENSG00000167792 ENSG00000167792 HGNC:7716 NEDD4L gene NEDD4L Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000049759 ENSG00000049759 HGNC:7728 NEUROD2 gene NEUROD2 Expert list;Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 72, OMIM:618374 16504944;30323019;33438828 False 3 100;0;0 8.173 False ENSG00000171532 ENSG00000171532 HGNC:7763 NEXMIF gene NEXMIF Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000050030 ENSG00000050030 HGNC:29433 NGLY1 gene NGLY1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation 615273 22581936;24651605 False 3 67;33;0 8.173 False ENSG00000151092 ENSG00000151092 HGNC:17646 NHLRC1 gene NHLRC1 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora) 254780 12958597 False 3 29;14;57 8.173 False ENSG00000187566 ENSG00000187566 HGNC:21576 NOTCH3 gene NOTCH3 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 39191170 False 3 100;0;0 8.173 False ENSG00000074181 ENSG00000074181 HGNC:7883 NPRL2 gene NPRL2 Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial focal, with variable foci 2, OMIM:617116 26505888;27173016;30093711;34965576 False 3 50;50;0 8.173 False ENSG00000114388 ENSG00000114388 HGNC:24969 NPRL3 gene NPRL3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial focal, with variable foci 3, 617118 26505888;26285051;27173016;34965576 False 3 67;33;0 8.173 False ENSG00000103148 ENSG00000103148 HGNC:14124 NR4A2 gene NR4A2 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000153234 ENSG00000153234 HGNC:7981 NRROS gene NRROS Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Seizures, early-onset, with neurodegeneration and brain calcification 618875 32100099;32197075;28459434 False 3 100;0;0 8.173 False ENSG00000174004 ENSG00000174004 HGNC:24613 NRXN1 gene NRXN1 Expert;Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000179915 ENSG00000179915 HGNC:8008 NSD1 gene NSD1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sotos syndrome 1, 117550 15942875 False 3 67;33;0 8.173 False ENSG00000165671 ENSG00000165671 HGNC:14234 NSDHL gene NSDHL Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females CK syndrome 300831 19377476;19842190;25900314 False 3 67;33;0 8.173 False ENSG00000147383 ENSG00000147383 HGNC:13398 NSRP1 gene NSRP1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal NSRP1-associated developmental delay, epilepsy and microcephaly 34385670 False 3 100;0;0 8.173 False ENSG00000126653 ENSG00000126653 HGNC:25305 NTRK2 gene NTRK2 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000148053 ENSG00000148053 HGNC:8032 NUP214 gene NUP214 Expert list;Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000126883 ENSG00000126883 HGNC:8064 NUS1 gene NUS1 Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000153989 ENSG00000153989 HGNC:21042 OCLN gene OCLN Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 1 251290 20727516 False 3 67;33;0 8.173 False ENSG00000197822 ENSG00000197822 HGNC:8104 OGDHL gene OGDHL Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Yoon-Bellen neurodevelopmental syndrome, OMIM:619701 28017472;34800363 False 3 100;0;0 8.173 False ENSG00000197444 ENSG00000197444 HGNC:25590 OPHN1 gene OPHN1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000079482 ENSG00000079482 HGNC:8148 OTUD6B gene OTUD6B Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 617452 28343629 False 3 67;33;0 8.173 False ENSG00000155100 ENSG00000155100 HGNC:24281 OTUD7A gene OTUD7A Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal developmental and epileptic encephalopathy, MONDO:0100062 31997314;29395075;29395074;33381903;36180924 False 3 75;0;25 8.173 False ENSG00000169918 ENSG00000169918 HGNC:20718 OXR1 gene OXR1 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 213000 31785787;22028674 False 3 100;0;0 8.173 False ENSG00000164830 ENSG00000164830 HGNC:15822 P4HTM gene P4HTM Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000178467 ENSG00000178467 HGNC:28858 PABPC1 gene PABPC1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Global developmental delay;Expressive language delay;Intellectual disability;Behavioral abnormality;Seizures 35511136 False 3 75;25;0 8.173 False ENSG00000070756 ENSG00000070756 HGNC:8554 PACS1 gene PACS1 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schuurs-Hoeijmakers syndrome, 615009 28111752;26842493;23159249 False 3 75;25;0 8.173 False ENSG00000175115 ENSG00000175115 HGNC:30032 PACS2 gene PACS2 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 66, 618067 29656858;22488736;28867141 False 3 75;25;0 8.173 False ENSG00000179364 ENSG00000179364 HGNC:23794 PAFAH1B1 gene PAFAH1B1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000007168 ENSG00000007168 HGNC:8574 PAH gene PAH Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Phenylketonuria 261600 27830119;29560316;29025426;29899773;29579554 False 3 33;67;0 8.173 False ENSG00000171759 ENSG00000171759 HGNC:8582 PAK1 gene PAK1 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 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 PARS2 gene PARS2 Expert Review Green;NHS GMS;Other;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 75, 618437 22237560;25629079;27290639;29410512;29410512;29915213 False 3 67;33;0 8.173 False ENSG00000162396 ENSG00000162396 HGNC:30563 PCCA gene PCCA Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Propionicacidemia 606054 2213454;25875215;30014764;22593918 False 3 67;33;0 8.173 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Propionicacidemia 606054 22593918;30014764 False 3 67;33;0 8.173 False ENSG00000114054 ENSG00000114054 HGNC:8654 PCDH12 gene PCDH12 Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly, seizures, spasticity, and brain calcification 251280 27164683;29556033;28804758 False 3 40;20;40 8.173 False ENSG00000113555 ENSG00000113555 HGNC:8657 PCDH19 gene PCDH19 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000165194 ENSG00000165194 HGNC:14270 PCDHGC4 gene PCDHGC4 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880 34244665 False 3 100;0;0 8.173 False ENSG00000242419 ENSG00000242419 HGNC:8717 PCYT2 gene PCYT2 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000185813 ENSG00000185813 HGNC:8756 PDHA1 gene PDHA1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHX gene PDHX Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Lacticacidemia due to PDX1 deficiency, OMIM:245349 11935326;16904023;25087164 False 3 67;33;0 8.173 False ENSG00000110435 ENSG00000110435 HGNC:21350 PET100 gene PET100 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110;seizures 24462369;23829769 False 3 67;33;0 8.173 False ENSG00000229833 ENSG00000229833 HGNC:40038 PGM2L1 gene PGM2L1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 33979636 False 3 100;0;0 8.173 False ENSG00000165434 ENSG00000165434 HGNC:20898 PHACTR1 gene PHACTR1 Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 70, OMIM:618298 30256902;23033978;28135719 False 3 67;33;0 8.173 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 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Phosphoglycerate dehydrogenase deficiency 601815 11055895;19235232 False 3 67;33;0 8.173 False ENSG00000092621 ENSG00000092621 HGNC:8923 PI4K2A gene PI4K2A Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732 30564627;32418222;35880319 False 3 100;0;0 8.173 False ENSG00000155252 ENSG00000155252 HGNC:30031 PIDD1 gene PIDD1 Expert Review Green;Literature;NHS GMS;Other Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000177595 ENSG00000177595 HGNC:16491 PIGA gene PIGA Expert Review;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000165195 ENSG00000165195 HGNC:8957 PIGB gene PIGB Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 80, OMIM:618580 31256876 False 3 67;33;0 8.173 False ENSG00000069943 ENSG00000069943 HGNC:8959 PIGC gene PIGC Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 16, OMIM:617816 27694521;32707268 False 3 50;50;0 8.173 True ENSG00000135845 ENSG00000135845 HGNC:8960 PIGG gene PIGG Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917 26996948;28581210 False 3 67;33;0 8.173 False ENSG00000174227 ENSG00000174227 HGNC:25985 PIGH gene PIGH Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 17, 618010;epilepsy;febrile seizures 29603516;29573052;33156547 False 3 50;25;25 8.173 True ENSG00000100564 ENSG00000100564 HGNC:8964 PIGK gene PIGK Expert list;Expert Review Green Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures OMIM:618879 32220290 False 3 100;0;0 8.173 False ENSG00000142892 ENSG00000142892 HGNC:8965 PIGM gene PIGM Expert Review Green;London North GLH;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol deficiency, OMIM:610293 27604308;16767100;25293775;17442906;31445883 False 3 75;0;25 8.173 False ENSG00000143315 ENSG00000143315 HGNC:18858 PIGN gene PIGN Expert Review;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080 26419326;27038415;26394714 False 3 67;33;0 8.173 False ENSG00000197563 ENSG00000197563 HGNC:8967 PIGO gene PIGO Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 2, 614749 22683086;24049131;24417746;28900819;28337824 False 3 67;33;0 8.173 False ENSG00000165282 ENSG00000165282 HGNC:23215 PIGP gene PIGP Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 55, OMIM:617599 28334793;31139695;32042915 False 3 100;0;0 8.173 False ENSG00000185808 ENSG00000185808 HGNC:3046 PIGQ gene PIGQ Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome-4, OMIM:618548 32588908;24463883;25558065;31148362 False 3 22;22;56 8.173 False ENSG00000007541 ENSG00000007541 HGNC:14135 PIGT gene PIGT Expert Review Green;Literature;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 3 False 3 67;33;0 8.173 False ENSG00000124155 ENSG00000124155 HGNC:14938 PIGU gene PIGU Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590 31353022 False 3 100;0;0 8.173 True ENSG00000101464 ENSG00000101464 HGNC:15791 PIGW gene PIGW Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 11, 616025;HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 24367057;27626616;30078644 False 3 50;50;0 8.173 False ENSG00000184886 ENSG00000277161 HGNC:23213 PIK3R2 gene PIK3R2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 28502725;23745724;22729224 False 3 50;50;0 8.173 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 PIP5K1C gene PIP5K1C Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 37451268 False 3 100;0;0 8.173 False ENSG00000186111 ENSG00000186111 HGNC:8996 PLA2G6 gene PLA2G6 Expert Review Green;Literature;NHS GMS;Other Early onset or syndromic epilepsy Neurology 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 3 100;0;0 8.173 False ENSG00000184381 ENSG00000184381 HGNC:9039 PLAA gene PLAA Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000137055 ENSG00000137055 HGNC:9043 PLCB1 gene PLCB1 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000182621 ENSG00000182621 HGNC:15917 PLK1 gene PLK1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal developmental and epileptic encephalopathy, MONDO:0100062 33875846 False 3 100;0;0 8.173 False ENSG00000166851 ENSG00000166851 HGNC:9077 PLPBP gene PLPBP Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, early-onset, vitamin B6-dependent, 617290 27912044 False 3 67;33;0 8.173 False ENSG00000147471 ENSG00000147471 HGNC:9457 PLXNA1 gene PLXNA1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted developmental and epileptic encephalopathy, MONDO:0100062 28464511;34054129 False 3 100;0;0 8.173 False ENSG00000114554 ENSG00000114554 HGNC:9099 PMM2 gene PMM2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 26453362;28954837 False 3 67;33;0 8.173 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMPCB gene PMPCB Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954;multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 29576218 False 3 100;0;0 8.173 False ENSG00000105819 ENSG00000105819 HGNC:9119 PNKP gene PNKP Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000039650 ENSG00000039650 HGNC:9154 PNPLA8 gene PNPLA8 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial myopathy with lactic acidosis, OMIM:251950;mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0016825 39082157 False 3 100;0;0 8.173 False ENSG00000135241 ENSG00000135241 HGNC:28900 PNPO gene PNPO Expert;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Pyridoxamine 5'-phosphate oxidase deficiency, 610090 24658933;28818555;22196487;21704546;25296925;26535729;15772097;24266778;36106796 False 3 29;14;57 8.173 False ENSG00000108439 ENSG00000108439 HGNC:30260 PNPT1 gene PNPT1 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000138035 ENSG00000138035 HGNC:23166 POLG gene POLG Expert;Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000140521 ENSG00000140521 HGNC:9179 POMGNT1 gene POMGNT1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMT1 gene POMT1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 19299310 False 3 67;33;0 8.173 False ENSG00000130714 ENSG00000130714 HGNC:9202 PPFIBP1 gene PPFIBP1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 35830857;30214071 False 3 100;0;0 8.173 False ENSG00000110841 ENSG00000110841 HGNC:9249 PPIL1 gene PPIL1 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly 33220177 False 3 100;0;0 8.173 False ENSG00000137168 ENSG00000137168 HGNC:9260 PPOX gene PPOX Expert Review Green;NHS GMS;Other Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Variegate porphyria, childhood-onset, OMIM:620483;variegate porphyria, childhood-onset, MONDO:0957577 8290408;9811936;2004012;35164799;37879139;40114189 False 3 100;0;0 8.173 False ENSG00000143224 ENSG00000143224 HGNC:9280 PPP1R3F gene PPP1R3F Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 37531237 False 3 100;0;0 8.173 False ENSG00000049769 ENSG00000049769 HGNC:14944 PPP2CA gene PPP2CA Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000113575 ENSG00000113575 HGNC:9299 PPP2R2B gene PPP2R2B Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental syndrome 39565297;25356899 False 3 100;0;0 8.173 False ENSG00000156475 ENSG00000156475 HGNC:9305 PPP2R5C gene PPP2R5C Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Houge-Janssens syndrome 4, OMIM:621185 25972378;39696819;39978342 False 3 100;0;0 8.173 False ENSG00000078304 ENSG00000078304 HGNC:9311 PPP3CA gene PPP3CA Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, infantile or early childhood, 1 617711 28942967;30254215;30455226;29432562 False 3 67;33;0 8.173 False ENSG00000138814 ENSG00000138814 HGNC:9314 PPT1 gene PPT1 Expert;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1 256730 7637805;9425237;9664077 False 3 29;14;57 8.173 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRMT7 gene PRMT7 Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 26437029;27718516 False 3 67;33;0 8.173 False ENSG00000132600 ENSG00000132600 HGNC:25557 PRPF8 gene PRPF8 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000174231 ENSG00000174231 HGNC:17340 PRRT2 gene PRRT2 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000167371 ENSG00000167371 HGNC:30500 PSAP gene PSAP Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Combined SAP deficiency 611721 8776585;8554069;10682309;2514102;1371116;11309366 False 3 67;33;0 8.173 False ENSG00000197746 ENSG00000197746 HGNC:9498 PTCD3 gene PTCD3 Expert list;Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 51, OMIM:619057;combined oxidative phosphorylation deficiency 51, MONDO:0033631 30607703;30706245;36450274 False 3 100;0;0 8.173 False ENSG00000132300 ENSG00000132300 HGNC:24717 PTEN gene PTEN Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN23 gene PTPN23 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000076201 ENSG00000076201 HGNC:14406 PTS gene PTS Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, A, 261640 11916314;16364672;9222757;9450907;8801112 False 3 33;67;0 8.173 True ENSG00000150787 ENSG00000150787 HGNC:9689 PUM1 gene PUM1 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 47 617931 29474920;25768905;30903679;31859446 False 3 100;0;0 8.173 False ENSG00000134644 ENSG00000134644 HGNC:14957 PURA gene PURA Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 31;INTELLECTUAL DISABILITY PMID:25342064;Lalani (2014) False 3 83;17;0 8.173 False ENSG00000185129 ENSG00000185129 HGNC:9701 QARS gene QARS Expert Review;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000172053 ENSG00000172053 HGNC:9751 RAB11B gene RAB11B Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000185236 ENSG00000185236 HGNC:9761 RAB18 gene RAB18 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 3, 614222 15216543;21473985 False 3 67;33;0 8.173 False ENSG00000099246 ENSG00000099246 HGNC:14244 RAB5C gene RAB5C Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, RAB5C-related 37552066 False 3 100;0;0 8.173 False ENSG00000108774 ENSG00000108774 HGNC:9785 RAC3 gene RAC3 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 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 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Seizures;Abnormality of nervous system morphology 30500825 False 3 67;33;0 8.173 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 list;Expert Review Green Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal .Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 618797 32004447 False 3 50;50;0 8.173 False ENSG00000174373 ENSG00000174373 HGNC:17770 RARS gene RARS Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 9, OMIM:616140 31814314;28905880;24777941 False 3 100;0;0 8.173 False ENSG00000113643 ENSG00000113643 HGNC:9870 RARS2 gene RARS2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, 611523 25809939;29881806;17847012;20635367 False 3 67;33;0 8.173 False ENSG00000146282 ENSG00000146282 HGNC:21406 RELN gene RELN Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lissencephaly 2 (Norman-Roberts type), OMIM:257320;Norman-Roberts syndrome, MONDO:0009760;{Epilepsy, familial temporal lobe, 7}, OMIM:616436;familial temporal lobe epilepsy 7, MONDO:0014639 7682675;10973257;17431900;26046367;27000652;35769015 False 3 67;33;0 8.173 False ENSG00000189056 ENSG00000189056 HGNC:9957 RFT1 gene RFT1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In, 612015 19701946;19856127;23111317 False 3 67;33;0 8.173 False ENSG00000163933 ENSG00000163933 HGNC:30220 RHEB gene RHEB Expert list;Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy and cortical dysplasia 29051493;30414531;33434304;37015817 False 3 67;33;0 8.173 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 Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 64, OMIM:618004;developmental and epileptic encephalopathy, 64, MONDO:0033373 29276004;29768694;26740508;37165955 False 3 75;25;0 8.173 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 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11, 614922 23022098;25604853;25058219 False 3 67;33;0 8.173 False ENSG00000155906 ENSG00000155906 HGNC:21176 RNASEH2A gene RNASEH2A Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4, 610333 17846997;29239743;25604658 False 3 67;33;0 8.173 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, OMIM:610181 25604658;16845400;17846997;29239743 False 3 67;33;0 8.173 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3, 610329 29239743;17846997;25604658;29150899;20131292 False 3 67;33;0 8.173 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, cystic, without megalencephaly 612951 19525954 False 3 67;33;0 8.173 False ENSG00000026297 ENSG00000026297 HGNC:21686 RNF113A gene RNF113A Expert Review Green;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000125352 ENSG00000125352 HGNC:12974 RNF13 gene RNF13 Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 73, OMIM:618379 30595371 False 3 80;20;0 8.173 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 RNU2-2P gene RNU2-2P Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 119, OMIM:621304 40210679;40442284 False 3 50;0;50 8.173 False ENSG00000222328 ENSG00000222328 HGNC:10152 RNU4-2 gene RNU4-2 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ReNU syndrome, OMIM:620851 38821540;38645094 False 3 100;0;0 8.173 False ENSG00000202538 ENSG00000202538 HGNC:10193 RNU5B-1 gene RNU5B-1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302;RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity, MONDO:1060179 40379786;40442284 False 3 100;0;0 8.173 False ENSG00000200156 ENSG00000200156 HGNC:10212 ROGDI gene ROGDI Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Kohlschutter-Tonz syndrome 226750 23086778;22424600 False 3 67;33;0 8.173 False ENSG00000067836 ENSG00000067836 HGNC:29478 RORA gene RORA Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060" 29656859 False 3 50;50;0 8.173 False ENSG00000069667 ENSG00000069667 HGNC:10258 RORB gene RORB Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Epilepsy, idiopathic generalized, susceptibility to, 15}, OMIM:618357 27352968;24355400 False 3 67;33;0 8.173 False ENSG00000198963 ENSG00000198963 HGNC:10259 RTN4IP1 gene RTN4IP1 Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 29181510;26593267 False 3 67;33;0 8.173 False ENSG00000130347 ENSG00000130347 HGNC:18647 RTTN gene RTTN Expert Review;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and polymicrogyria with seizures 614833 26608784;22939636;29356416;29967526 False 3 50;50;0 8.173 False ENSG00000176225 ENSG00000176225 HGNC:18654 SAMHD1 gene SAMHD1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, 612952;seizures 29239743;25604658;19525956;30275001 False 3 67;33;0 8.173 False ENSG00000101347 ENSG00000101347 HGNC:15925 SARS gene SARS Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 28236339;34570399;35790048;36041817 False 3 50;50;0 8.173 False ENSG00000031698 ENSG00000031698 HGNC:10537 SATB1 gene SATB1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder 33513338 False 3 100;0;0 8.173 False ENSG00000182568 ENSG00000182568 HGNC:10541 SATB2 gene SATB2 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glass syndrome, OMIM:612313 32446642 False 3 100;0;0 8.173 False ENSG00000119042 ENSG00000119042 HGNC:21637 SCAF4 gene SCAF4 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fliedner-Zweier syndrome, OMIM:620511 32730804 False 3 100;0;0 8.173 False ENSG00000156304 ENSG00000156304 HGNC:19304 SCAMP5 gene SCAMP5 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 False Other ENSG00000198794 ENSG00000198794 HGNC:30386 SCARB2 gene SCARB2 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 4, with or without renal failure 254900 18308289;21670406;18424452;29605618 False 3 17;17;67 8.173 False ENSG00000138760 ENSG00000138760 HGNC:1665 SCN1A gene SCN1A Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCN1B gene SCN1B Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN2A gene SCN2A Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000136531 ENSG00000136531 HGNC:10588 SCN3A gene SCN3A Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000153253 ENSG00000153253 HGNC:10590 SCN8A gene SCN8A Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 8.173 False Other ENSG00000196876 ENSG00000196876 HGNC:10596 SEMA6B gene SEMA6B Expert Review Green;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, progressive myoclonic, 11 OMIM:618876 32169168;35604360 False 3 50;50;0 8.173 False Other ENSG00000167680 ENSG00000167680 HGNC:10739 SEPSECS gene SEPSECS Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D 613811 20920667;25044680;26115735;28133863 False 3 67;33;0 8.173 False ENSG00000109618 ENSG00000109618 HGNC:30605 SERPINI1 gene SERPINI1 Expert list;Expert Review Green Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Encephalopathy, familial, with neuroserpin inclusion bodies 604218 28631894;25401298;12103288 False 3 100;0;0 8.173 False ENSG00000163536 ENSG00000163536 HGNC:8943 SETBP1 gene SETBP1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder, autosomal dominant 29, OMIM: 616078;Schinzel-Giedion midface retraction syndrome, OMIM: 269150;Schinzel-Giedion syndrome, MONDO:0010010 20436468;21037274;22473152;23020937;25217958;25356899;25028416;25082129;25663181;26096993;26188272;28346496;29463886;32445275;32460883 False 3 75;25;0 8.173 False ENSG00000152217 ENSG00000152217 HGNC:15573 SETD1A gene SETD1A Expert list;Expert Review Green Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, early-onset, with or without developmental delay, 618832 31197650 False 3 100;0;0 8.173 False ENSG00000099381 ENSG00000099381 HGNC:29010 SETD1B gene SETD1B Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000139718 ENSG00000139718 HGNC:29187 SETD5 gene SETD5 Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 23, 615761 25138099;24680889;29484850 False 3 71;29;0 8.173 False ENSG00000168137 ENSG00000168137 HGNC:25566 SGSH gene SGSH Expert Review Green;Literature;Other Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900;seizures 21061399;30593151 False 3 100;0;0 8.173 False ENSG00000181523 ENSG00000181523 HGNC:10818 SHQ1 gene SHQ1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 3 67;33;0 8.173 False ENSG00000144736 ENSG00000144736 HGNC:25543 SIK1 gene SIK1 Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NEONATAL EPILEPSY SPECTRUM;Epileptic encephalopathy, early infantile, 30 PMID: 25839329 False 3 83;17;0 8.173 False ENSG00000142178 ENSG00000142178 HGNC:11142 SLC12A5 gene SLC12A5 Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000124140 ENSG00000124140 HGNC:13818 SLC13A3 gene SLC13A3 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384 30635937;34966709;35527102;37290914;38235040 False 3 100;0;0 8.173 False ENSG00000158296 ENSG00000158296 HGNC:14430 SLC13A5 gene SLC13A5 Expert Review;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 25 Thevenon et al (2014) AJHG 95, 113 120 False 3 83;17;0 8.173 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC16A2 gene SLC16A2 Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000147100 ENSG00000147100 HGNC:10923 SLC1A2 gene SLC1A2 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000110436 ENSG00000110436 HGNC:10940 SLC1A4 gene SLC1A4 Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 29989513;27193218;26138499;26041762;25930971 False 3 67;33;0 8.173 False ENSG00000115902 ENSG00000115902 HGNC:10942 SLC25A1 gene SLC25A1 Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Combined D-2- and L-2-hydroxyglutaric aciduria False 3 67;33;0 8.173 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A12 gene SLC25A12 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 39 612949 24515575;19641205;27290639;26633542;31403263 False 3 60;40;0 8.173 True ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A22 gene SLC25A22 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000177542 ENSG00000177542 HGNC:19954 SLC2A1 gene SLC2A1 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC32A1 gene SLC32A1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 114, OMIM:620774;Generalized epilepsy with febrile seizures plus, type 12, OMIM:620755 34038384;36073542 False 3 100;0;0 8.173 False ENSG00000101438 ENSG00000101438 HGNC:11018 SLC35A2 gene SLC35A2 Expert Review Green;NHS GMS;Other;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000102100 ENSG00000102100 HGNC:11022 SLC38A3 gene SLC38A3 Expert Review Green;Literature;NHS GMS;Other Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 102, 619881 34605855 False 3 100;0;0 8.173 False ENSG00000188338 ENSG00000188338 HGNC:18044 SLC39A8 gene SLC39A8 Expert Review;Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn, OMIM:616721;SLC39A8-CDG, MONDO:0014746 26637978;26637979 False 3 100;0;0 8.173 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC4A10 gene SLC4A10 Expert Review Green;NHS GMS;Other Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746 37459438;38054405;31130284 False 3 100;0;0 8.173 False ENSG00000144290 ENSG00000144290 HGNC:13811 SLC6A1 gene SLC6A1 Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonic-atonic epilepsy, OMIM:616421 25865495;29315614;32469098;34006619;34028503 False 3 83;17;0 8.173 False ENSG00000157103 ENSG00000157103 HGNC:11042 SLC6A8 gene SLC6A8 Expert;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000130821 ENSG00000130821 HGNC:11055 SLC9A6 gene SLC9A6 Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000198689 ENSG00000198689 HGNC:11079 SMARCA2 gene SMARCA2 Expert list;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nicolaides-Baraitser syndrome 601358 22366787 False 3 67;33;0 8.173 False ENSG00000080503 ENSG00000080503 HGNC:11098 SMARCC2 gene SMARCC2 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000139613 ENSG00000139613 HGNC:11105 SMC1A gene SMC1A Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMS gene SMS Expert;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000102172 ENSG00000102172 HGNC:11123 SNAP25 gene SNAP25 Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000132639 ENSG00000132639 HGNC:11132 SNIP1 gene SNIP1 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000163877 ENSG00000163877 HGNC:30587 SNORD118 gene SNORD118 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, brain calcifications, and cysts 614561 27571260 False 3 67;33;0 8.173 False ENSG00000200463 ENSG00000200463 HGNC:32952 SPATA5 gene SPATA5 Expert Review Green;Other Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 27246907;29343804;26299366;28293831 False 3 100;0;0 8.173 False ENSG00000145375 ENSG00000145375 HGNC:18119 SPATA5L1 gene SPATA5L1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 34626583 False 3 100;0;0 8.173 False ENSG00000171763 ENSG00000171763 HGNC:28762 SPOUT1 gene SPOUT1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154 39962046 False 3 100;0;0 8.173 False ENSG00000198917 ENSG00000198917 HGNC:26933 SPTAN1 gene SPTAN1 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 5, OMIM:613477;Developmental delay with or without epilepsy, OMIM:620540;Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538 20493457;22258530;36331550 False 3 83;17;0 8.173 False ENSG00000197694 ENSG00000197694 HGNC:11273 SPTBN1 gene SPTBN1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal dominant neurodevelopmental syndrome 34211179 False 3 100;0;0 8.173 False ENSG00000115306 ENSG00000115306 HGNC:11275 ST3GAL3 gene ST3GAL3 Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000126091 ENSG00000126091 HGNC:10866 ST3GAL5 gene ST3GAL5 Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Salt and pepper developmental regression syndrome 609056 27232954;24026681 False 3 67;33;0 8.173 False ENSG00000115525 ENSG00000115525 HGNC:10872 STAG1 gene STAG1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 47 617635 28119487 False 3 67;33;0 8.173 False ENSG00000118007 ENSG00000118007 HGNC:11354 STAMBP gene STAMBP Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly-capillary malformation syndrome, OMIM:614261 23542699;29907875;27531570;25692795 False 3 67;33;0 8.173 False ENSG00000124356 ENSG00000124356 HGNC:16950 STRADA gene STRADA Expert list;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Polyhydramnios, megalencephaly, and symptomatic epilepsy 611087 27170158;17522105;28688840;20424326 False 3 67;33;0 8.173 False ENSG00000266173 ENSG00000266173 HGNC:30172 STX1B gene STX1B Expert Review;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Generalized epilepsy with febrile seizures plus, type 9, 616172 25362483 False 3 83;17;0 8.173 False ENSG00000099365 ENSG00000099365 HGNC:18539 STXBP1 gene STXBP1 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 4, OMIM:612164 35190816;31855252;18469812;19557857 False 3 43;14;43 8.173 False ENSG00000136854 ENSG00000136854 HGNC:11444 SUCLA2 gene SUCLA2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUOX gene SUOX Emory Genetics Laboratory;Expert Review;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency False 3 67;33;0 8.173 False ENSG00000139531 ENSG00000139531 HGNC:11460 SURF1 gene SURF1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, due to COX IV deficiency, 256000 24462369;23829769;28273704;29481804 False 3 67;33;0 8.173 False ENSG00000148290 ENSG00000148290 HGNC:11474 SYN1 gene SYN1 Expert list;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000008056 ENSG00000008056 HGNC:11494 SYNGAP1 gene SYNGAP1 Expert;Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 5, OMIM:612621 Hamden et al (2009) N Engl J Med 360: 599-605 False 3 83;17;0 8.173 False ENSG00000197283 ENSG00000197283 HGNC:11497 SYNJ1 gene SYNJ1 Expert Review Green;NHS GMS;Other;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 53, 617389 27435091 False 3 50;50;0 8.173 False ENSG00000159082 ENSG00000159082 HGNC:11503 SZT2 gene SZT2 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 18, False 3 17;17;67 8.173 False ENSG00000198198 ENSG00000198198 HGNC:29040 TAF8 gene TAF8 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000137413 ENSG00000137413 HGNC:17300 TANGO2 gene TANGO2 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 29369572;30245509;26805782;26805781 False 3 67;33;0 8.173 False ENSG00000183597 ENSG00000183597 HGNC:25439 TARS2 gene TARS2 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 21, OMIM: 615918;combined oxidative phosphorylation defect type 21,NDO:0014398 39394138;33153448;34508595;37454282 False 3 100;0;0 8.173 False ENSG00000143374 ENSG00000143374 HGNC:30740 TBC1D24 gene TBC1D24 Expert;Expert Review Green;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000162065 ENSG00000162065 HGNC:29203 TBC1D2B gene TBC1D2B Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures and gingival overgrowth, OMIM:619323;neurodevelopmental disorder with seizures and gingival overgrowth, MONDO:0859148 32623794;38374468 False 3 100;0;0 8.173 False ENSG00000167202 ENSG00000167202 HGNC:29183 TBCD gene TBCD Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000141556 ENSG00000141556 HGNC:11581 TBCK gene TBCK Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900;seizures 27040691;27040692 False 3 67;33;0 8.173 False ENSG00000145348 ENSG00000145348 HGNC:28261 TBL1XR1 gene TBL1XR1 Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000177565 ENSG00000177565 HGNC:29529 TCF4 gene TCF4 Expert;Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Pitt-Hopkins syndrome 610954" 29604340;17436255 False 3 83;17;0 8.173 False ENSG00000196628 ENSG00000196628 HGNC:11634 TDP2 gene TDP2 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 23, 616949 24658003;30109272;31410782 False 3 100;0;0 8.173 False ENSG00000111802 ENSG00000111802 HGNC:17768 TFE3 gene TFE3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000068323 ENSG00000068323 HGNC:11752 TIAM1 gene TIAM1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with language delay and seizures, OMIM:619908 35240055;33328293 False 3 67;33;0 8.173 False ENSG00000156299 ENSG00000156299 HGNC:11805 TIMM50 gene TIMM50 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000105197 ENSG00000105197 HGNC:23656 TMEM167A gene TMEM167A Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328 40924476 False 3 100;0;0 8.173 False ENSG00000174695 ENSG00000174695 HGNC:28330 TMEM222 gene TMEM222 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, OMIM:619470 33824500;27457812 False 3 67;33;0 8.173 False ENSG00000186501 ENSG00000186501 HGNC:25363 TMEM63B gene TMEM63B Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 118, OMIM:621250 37421948 False 3 100;0;0 8.173 False ENSG00000137216 ENSG00000137216 HGNC:17735 TMX2 gene TMX2 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000213593 ENSG00000213593 HGNC:30739 TNPO2 gene TNPO2 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability;Dysmorphic features;Microcephaly;Seizures;Hypotonia 34314705 False 3 100;0;0 8.173 False ENSG00000105576 ENSG00000105576 HGNC:19998 TPP1 gene TPP1 Expert;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2 204500 9295267;10665500;12414822;17959406 False 3 17;17;67 8.173 False ENSG00000166340 ENSG00000166340 HGNC:2073 TRA2B gene TRA2B Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ramond-Elliott neurodevelopmental syndrome, OMIM:621421 36549593 False 3 100;0;0 8.173 False ENSG00000136527 ENSG00000136527 HGNC:10781 TRAK1 gene TRAK1 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 68 618201" 28364549 False 3 67;33;0 8.173 False ENSG00000182606 ENSG00000182606 HGNC:29947 TRAPPC12 gene TRAPPC12 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000171853 ENSG00000171853 HGNC:24284 TRAPPC4 gene TRAPPC4 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, 618741 31794024 False 3 100;0;0 8.173 False ENSG00000196655 ENSG00000196655 HGNC:19943 TREX1 gene TREX1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM8 gene TRIM8 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early-onset epileptic encephalopathy (EOEE);EE;Seizures 30244534;27346735;23934111 False 3 75;25;0 8.173 False ENSG00000171206 ENSG00000171206 HGNC:15579 TRIT1 gene TRIT1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 35, OMIM:617873;combined oxidative phosphorylation deficiency 35, MONDO:0054742 28185376;24901367 False 3 100;0;0 8.173 False ENSG00000043514 ENSG00000043514 HGNC:20286 TRPM3 gene TRPM3 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 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 Expert Review;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal 602014 False 3 67;33;0 8.173 False ENSG00000119121 ENSG00000119121 HGNC:17995 TRPM7 gene TRPM7 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hypomagnesaemia with secondary hypocalcaemia 39099563;35712613;35561741 False 3 100;0;0 8.173 False ENSG00000092439 ENSG00000092439 HGNC:17994 TSC1 gene TSC1 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000103197 ENSG00000103197 HGNC:12363 TSEN54 gene TSEN54 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000182173 ENSG00000182173 HGNC:27561 TUBA1A gene TUBA1A Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 3, 611603 17218254;17584854;18954413;21403111;22948023 False 3 67;33;0 8.173 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB2A gene TUBB2A Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000137267 ENSG00000137267 HGNC:12412 TUBB2B gene TUBB2B Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031 19465910;22333901 False 3 67;33;0 8.173 False ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 1, 614039 20829227;26130693;25008804 False 3 67;33;0 8.173 False ENSG00000258947 ENSG00000258947 HGNC:20772 TUBB4A gene TUBB4A Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 6, 612438 24742798;26643067 False 3 67;33;0 8.173 False ENSG00000104833 ENSG00000104833 HGNC:20774 TUBG1 gene TUBG1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000131462 ENSG00000131462 HGNC:12417 TUBGCP2 gene TUBGCP2 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737 31630790 False 3 100;0;0 8.173 False ENSG00000130640 ENSG00000130640 HGNC:18599 U2AF2 gene U2AF2 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071 28135719;31785789;33057194;34112922;36747105;37092751;37134193 False 3 75;25;0 8.173 False ENSG00000063244 ENSG00000063244 HGNC:23156 UBA5 gene UBA5 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 44, 617132 27545681;27545674 False 3 67;33;0 8.173 False ENSG00000081307 ENSG00000081307 HGNC:23230 UBAP2L gene UBAP2L Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000143569 ENSG00000143569 HGNC:29877 UBE2A gene UBE2A Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000077721 ENSG00000077721 HGNC:12472 UBE3A gene UBE3A Expert;Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000114062 ENSG00000114062 HGNC:12496 UBR5 gene UBR5 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted complex neurodevelopmental disorder, MONDO:0100038 39721588 False 3 100;0;0 8.173 False ENSG00000104517 ENSG00000104517 HGNC:16806 UBR7 gene UBR7 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;epilepsy;hypothyroidism;congenital anomalies;dysmorphic features 33340455 False 3 100;0;0 8.173 False ENSG00000012963 ENSG00000012963 HGNC:20344 UFM1 gene UFM1 Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy hypomyelinating 14, 617899 28931644;29868776 False 3 67;33;0 8.173 False ENSG00000120686 ENSG00000120686 HGNC:20597 UFSP2 gene UFSP2 Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 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 Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 84 - MIM #618792 32001716 False 3 100;0;0 8.173 False ENSG00000109814 ENSG00000109814 HGNC:12525 UGGT1 gene UGGT1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal congenital disorder of glycosylation, MONDO:0015286 40267907 False 3 100;0;0 8.173 False ENSG00000136731 ENSG00000136731 HGNC:15663 UGP2 gene UGP2 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 83, OMIM:618744 31820119 False 3 100;0;0 8.173 False ENSG00000169764 ENSG00000169764 HGNC:12527 UNC13A gene UNC13A Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, OMIM:621456;Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, OMIM:621455;?Intellectual development disorder with seizures and dysmorphic facies , OMIM:621457 28192369;39634123;41125872 False 3 100;0;0 8.173 False ENSG00000130477 ENSG00000130477 HGNC:23150 UNC80 gene UNC80 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801 26708751;26708753;26545877;29572195 False 3 67;33;0 8.173 False ENSG00000144406 ENSG00000144406 HGNC:26582 USP18 gene USP18 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 2, 617397 12833411;27325888;31940699 False 3 100;0;0 8.173 False ENSG00000184979 ENSG00000184979 HGNC:12616 VAMP2 gene VAMP2 Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000220205 ENSG00000220205 HGNC:12643 VARS gene VARS Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 617802 26539891;29691655;30275004 False 3 67;33;0 8.173 False ENSG00000204394 ENSG00000204394 HGNC:12651 VPS11 gene VPS11 Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 12 (MIM 616683);Leukodystrophy, hypomyelinating, 12 27473128;26307567;27120463 False 3 75;25;0 8.173 False ENSG00000160695 ENSG00000160695 HGNC:14583 WARS2 gene WARS2 Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000116874 ENSG00000116874 HGNC:12730 WASF1 gene WASF1 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with absent language and variable seizures, 618707 29961568 False 3 67;33;0 8.173 False ENSG00000112290 ENSG00000112290 HGNC:12732 WDR37 gene WDR37 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurooculocardiogenitourinary syndrome, OMIM:618652 31327510;31327508 False 3 100;0;0 8.173 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 Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000196998 ENSG00000196998 HGNC:28912 WDR45B gene WDR45B Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000141580 ENSG00000141580 HGNC:25072 WDR47 gene WDR47 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 39609633 False 3 100;0;0 8.173 False ENSG00000085433 ENSG00000085433 HGNC:29141 WDR73 gene WDR73 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 1, 251300 25466283;26123727;26070982 False 3 67;33;0 8.173 False ENSG00000177082 ENSG00000177082 HGNC:25928 WNK3 gene WNK3 Expert Review Green;NHS GMS Early onset or syndromic epilepsy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Prieto syndrome, OMIM:309610;Intellectual disability, MONDO:0001071 26350204;35678782 False 3 25;0;75 8.173 False ENSG00000196632 ENSG00000196632 HGNC:14543 WWOX gene WWOX Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 28, 616211 24369382;24456803 False 3 83;17;0 8.173 False ENSG00000186153 ENSG00000186153 HGNC:12799 YIPF5 gene YIPF5 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278 33164986 False 3 100;0;0 8.173 False ENSG00000145817 ENSG00000145817 HGNC:24877 YWHAG gene YWHAG Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 56 617665 26297819;27288018;28777935;25363760 False 3 67;33;0 8.173 False ENSG00000170027 ENSG00000170027 HGNC:12852 ZBTB18 gene ZBTB18 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 22, 612337 27598823;24193349;26740508 False 3 67;33;0 8.173 False ENSG00000179456 ENSG00000179456 HGNC:13030 ZBTB47 gene ZBTB47 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092 37743782 False 3 100;0;0 8.173 False ENSG00000114853 ENSG00000114853 HGNC:26955 ZDHHC9 gene ZDHHC9 Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000188706 ENSG00000188706 HGNC:18475 ZEB2 gene ZEB2 Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000169554 ENSG00000169554 HGNC:14881 ZNF142 gene ZNF142 Expert Review;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000115568 ENSG00000115568 HGNC:12927 ZNF335 gene ZNF335 Expert Review Green;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly 10, primary, autosomal recessive, 615095 23178126;27540107;29652087;30500859;31187448 False 3 100;0;0 8.173 False ENSG00000198026 ENSG00000198026 HGNC:15807 ZNFX1 gene ZNFX1 Expert Review Green;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 91 and hyperinflammation, OMIM:619644;immunodeficiency 91 and hyperinflammation, MONDO:0030491 33876776;33872655 False 3 100;0;0 8.173 False ENSG00000124201 ENSG00000124201 HGNC:29271 ABCA2 gene ABCA2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000107331 ENSG00000107331 HGNC:32 ABI2 gene ABI2 Expert list;Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 40475134 False 2 100;0;0 8.173 False ENSG00000138443 ENSG00000138443 HGNC:24011 ADAM22 gene ADAM22 Expert list;Expert Review Amber Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000008277 ENSG00000008277 HGNC:201 ADAT3 gene ADAT3 Expert Review;Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000213638 ENSG00000213638 HGNC:25151 ADD1 gene ADD1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000087274 ENSG00000087274 HGNC:243 ADGRL1 gene ADGRL1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, OMIM:620065 35907405 False 2 0;100;0 8.173 False ENSG00000072071 ENSG00000072071 HGNC:20973 AIMP2 gene AIMP2 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 17, OMIM:618006;eukodystrophy, hypomyelinating, 17, MONDO:0054817 29215095;26795593;35140751;35568357;38374194 False 2 20;80;0 8.173 False ENSG00000106305 ENSG00000106305 HGNC:20609 AJAP1 gene AJAP1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 38985877 False 2 50;50;0 8.173 False ENSG00000196581 ENSG00000196581 HGNC:30801 AMACR gene AMACR Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Alpha-methylacyl-CoA racemase deficiency, OMIM:614307 37452652 False 2 100;0;0 8.173 False ENSG00000242110 ENSG00000242110 HGNC:451 ASTN1 gene ASTN1 Expert list;Expert Review Amber Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 29706646;27431290;26539891;41544630 False 2 67;0;33 8.173 False ENSG00000152092 ENSG00000152092 HGNC:773 ATP2B1 gene ATP2B1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 66, OMIM:619910 35358416;33057194;40834682 False 2 25;75;0 8.173 False ENSG00000070961 ENSG00000070961 HGNC:814 ATP5A1 gene ATP5A1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000152234 ENSG00000152234 HGNC:823 ATP6AP2 gene ATP6AP2 Expert Review Amber;Literature;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic, Hedera type False 2 0;67;33 8.173 False ENSG00000182220 ENSG00000182220 HGNC:18305 BAIAP2 gene BAIAP2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown developmental and epileptic encephalopathy, MONDO:0100620;classic lissencephaly, MONDO:0015146 30696821;38149472;41133935 False 2 50;50;0 8.173 False Other ENSG00000175866 ENSG00000175866 HGNC:947 BLOC1S1 gene BLOC1S1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal severe intellectual disability;severe global developmental delay;epilepsy 33875846 False 2 100;0;0 8.173 False ENSG00000135441 ENSG00000135441 HGNC:4200 BORCS5 gene BORCS5 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal arthrogryposis multiplex congenita, MONDO:0015168;neurodevelopmental disorder, MONDO:0700092 27435318;40385417;40621786 False 2 100;0;0 8.173 False ENSG00000165714 ENSG00000165714 HGNC:17950 BORCS8 gene BORCS8 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987 38128568 False 2 50;50;0 8.173 False ENSG00000254901 ENSG00000254901 HGNC:37247 BSN gene BSN Expert Review Amber;Other Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 36600631;39616287;40393460 False 2 50;50;0 8.173 False ENSG00000164061 ENSG00000164061 HGNC:1117 CACNA1H gene CACNA1H Expert;Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000196557 ENSG00000196557 HGNC:1395 CACNA2D1 gene CACNA2D1 Expert Review Amber;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Early onset developmental epilepsy 35293990;28097321 False 2 0;100;0 8.173 False ENSG00000153956 ENSG00000153956 HGNC:1399 CAMK2D gene CAMK2D Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 38272033 False 2 0;100;0 8.173 False ENSG00000145349 ENSG00000145349 HGNC:1462 CCDC88C gene CCDC88C Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000015133 ENSG00000015133 HGNC:19967 CCT8 gene CCT8 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CCT8-related neurodevelopmental disorder with brain abnormalities 39480921 False 2 0;100;0 8.173 False ENSG00000156261 ENSG00000156261 HGNC:1623 CDC42BPB gene CDC42BPB Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841;Chilton-Okur-Chung neurodevelopmental syndrome, MONDO:0859239 32031333 False 2 0;100;0 8.173 False ENSG00000198752 ENSG00000198752 HGNC:1738 CELF4 gene CELF4 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 40108438 False 2 0;100;0 8.173 False ENSG00000101489 ENSG00000101489 HGNC:14015 CELSR3 gene CELSR3 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 34951123;38429302 False 2 100;0;0 8.173 False ENSG00000008300 ENSG00000008300 HGNC:3230 CLN6 gene CLN6 Expert;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000128973 ENSG00000128973 HGNC:2077 COG3 gene COG3 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, OMIM:620546 37711075 False 2 0;100;0 8.173 False ENSG00000136152 ENSG00000136152 HGNC:18619 COG4 gene COG4 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIj, OMIM:613489 False 2 0;100;0 8.173 False ENSG00000103051 ENSG00000103051 HGNC:18620 COG6 gene COG6 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iil 614576 20605848 False 2 0;100;0 8.173 False ENSG00000133103 ENSG00000133103 HGNC:18621 COG8 gene COG8 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIh 611182 28619360;17220172;17331980 False 2 0;100;0 8.173 False ENSG00000213380 ENSG00000213380 HGNC:18623 COLGALT1 gene COLGALT1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Brain small vessel disease 3, OMIM:618360 30412317;33709034;31759980 False 2 100;0;0 8.173 False ENSG00000130309 ENSG00000130309 HGNC:26182 COQ5 gene COQ5 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028;mitochondrial disease, MONDO:0044970 29044765;36266294;37599337;41199775 False 2 0;100;0 8.173 False ENSG00000110871 ENSG00000110871 HGNC:28722 COQ6 gene COQ6 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6, 614650 False 2 0;100;0 8.173 False ENSG00000119723 ENSG00000119723 HGNC:20233 COX10 gene COX10 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 False 2 0;100;0 8.173 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX11 gene COX11 Expert Review Amber;NHS GMS Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000166260 ENSG00000166260 HGNC:2261 COX15 gene COX15 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 21412973;12474143;15863660;15235026 False 2 0;100;0 8.173 False ENSG00000014919 ENSG00000014919 HGNC:2263 CPSF3 gene CPSF3 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures, OMIM:619876 35121750 False 2 0;100;0 8.173 False ENSG00000119203 ENSG00000119203 HGNC:2326 CSNK1G1 gene CSNK1G1 Expert Review;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 24463883;33009664 False 2 0;14;86 8.173 False ENSG00000169118 ENSG00000169118 HGNC:2454 CTU2 gene CTU2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal seizures;DREAM PL syndrome;Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 31301155 False 2 0;0;0 8.173 False ENSG00000174177 ENSG00000174177 HGNC:28005 CYP27A1 gene CYP27A1 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700;seizures;photosensitive epilepsy 18227423;22336472;24442603;29484516;2019602 False 2 25;50;25 8.173 False ENSG00000135929 ENSG00000135929 HGNC:2605 DALRD3 gene DALRD3 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Developmental and epileptic encephalopathy 86, # 618910 32427860;39482881 False 2 0;100;0 8.173 False ENSG00000178149 ENSG00000178149 HGNC:25536 DENND5B gene DENND5B Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DENND5B associated neurodevelopmental disorder 38387458 False 2 0;100;0 8.173 False ENSG00000170456 ENSG00000170456 HGNC:28338 DHCR24 gene DHCR24 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Desmosterolosis, 602398 21559050;24961299 False 2 33;67;0 8.173 False ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Emory Genetics Laboratory;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, 270400 24920862;29226552;10807690 False 2 33;67;0 8.173 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHRSX gene DHRSX Expert Review Amber Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1DD, OMIM:301133 38821050 False 2 20;20;60 8.173 False ENSG00000169084 ENSG00000169084 HGNC:18399 DHX16 gene DHX16 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000204560 ENSG00000204560 HGNC:2739 DNAJC5 gene DNAJC5 Expert Review Amber;Literature;Other Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000101152 ENSG00000101152 HGNC:16235 DPM2 gene DPM2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, OMIM:615042 23109149;26453362 False 2 33;67;0 8.173 True ENSG00000136908 ENSG00000136908 HGNC:3006 EFHC1 gene EFHC1 Expert list;Expert Review Amber;Literature;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000096093 ENSG00000096093 HGNC:16406 EIF2AK2 gene EIF2AK2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877 32197074 False 2 0;0;0 8.173 False ENSG00000055332 ENSG00000055332 HGNC:9437 EMX2 gene EMX2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schizencephaly, OMIM:269160 8528262;9359037 False 2 40;60;0 8.173 False ENSG00000170370 ENSG00000170370 HGNC:3341 EXOC7 gene EXOC7 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Brain atrophy;Seizures;Developmental delay;Microcephaly 32103185 False 2 0;0;0 8.173 False ENSG00000182473 ENSG00000182473 HGNC:23214 FAM50A gene FAM50A Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000071859 ENSG00000071859 HGNC:18786 FDFT1 gene FDFT1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Squalene synthase deficiency, 618156 29909962 False 2 50;50;0 8.173 False ENSG00000079459 ENSG00000079459 HGNC:3629 FH gene FH Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency, OMIM:606812 2314594;10805328;20301679;20549362;15221078;16151915 False 2 50;50;0 8.173 False ENSG00000091483 ENSG00000091483 HGNC:3700 FKRP gene FKRP Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000181027 ENSG00000181027 HGNC:17997 FSD1L gene FSD1L Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41720098;41720099 False 2 100;0;0 8.173 False ENSG00000106701 ENSG00000106701 HGNC:13753 GABRA3 gene GABRA3 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, OMIM:301091 41289009;29053855 False 2 100;0;0 8.173 False ENSG00000011677 ENSG00000011677 HGNC:4077 GCH1 gene GCH1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, B, 233910;seizures 7869202;17407085;12552057;7730309;31202265;18276179 False 2 33;67;0 8.173 False ENSG00000131979 ENSG00000131979 HGNC:4193 GFM1 gene GFM1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 1 609060 25852744;26937387;28216230;23430926;21986555;21119709 False 2 0;100;0 8.173 False ENSG00000168827 ENSG00000168827 HGNC:13780 GLI3 gene GLI3 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome, OMIM:175700;Pallister-Hall syndrome, OMIM:146510 False 2 0;67;33 8.173 False ENSG00000106571 ENSG00000106571 HGNC:4319 GLRA1 gene GLRA1 Expert;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLYCTK gene GLYCTK Expert Review;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal D-glyceric aciduria 220120 3588091;30637540;28462797;20949620;28190537 False 2 33;67;0 8.173 False ENSG00000168237 ENSG00000168237 HGNC:24247 GSS gene GSS Expert Review;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000100983 ENSG00000100983 HGNC:4624 GTPBP3 gene GTPBP3 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 23, 616198 25434004 False 2 67;33;0 8.173 True ENSG00000130299 ENSG00000130299 HGNC:14880 GUF1 gene GUF1 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Epileptic encephalopathy, early infantile, 40, 617065 26486472 False 2 0;100;0 8.173 False ENSG00000151806 ENSG00000151806 HGNC:25799 HCCS gene HCCS Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000004961 ENSG00000004961 HGNC:4837 HEATR5B gene HEATR5B Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia, MONDO:0020135;intellectual disability, MONDO:0001071;seizures 33824466 False 2 0;100;0 8.173 False ENSG00000008869 ENSG00000008869 HGNC:29273 HLCS gene HLCS Expert;Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency, 253270 22027809;27114915 False 2 14;29;57 8.173 False ENSG00000159267 ENSG00000159267 HGNC:4976 HOXA1 gene HOXA1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Athabaskan brainstem dysgenesis syndrome, 601536;Bosley-Salih-Alorainy syndrome, 601536 18412118;12833395 False 2 0;67;33 8.173 False ENSG00000105991 ENSG00000105991 HGNC:5099 HPRT1 gene HPRT1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome, OMIM:300322 False 2 0;67;33 8.173 False ENSG00000165704 ENSG00000165704 HGNC:5157 HSPD1 gene HSPD1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 4, OMIM:612233 18571143;30083362 False 2 33;33;33 8.173 False ENSG00000144381 ENSG00000144381 HGNC:5261 ISPD gene ISPD Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000214960 ENSG00000214960 HGNC:37276 JAKMIP1 gene JAKMIP1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, MONDO:0001071;seizures 29158550;26627310;27799067 False 2 0;100;0 8.173 False ENSG00000152969 ENSG00000152969 HGNC:26460 JKAMP gene JKAMP Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41643666 False 2 100;0;0 8.173 False ENSG00000050130 ENSG00000050130 HGNC:20184 KATNB1 gene KATNB1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534 25521378;25521379;26640080 False 2 50;0;50 8.173 False ENSG00000140854 ENSG00000140854 HGNC:6217 KCNB2 gene KCNB2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 38503299 False 2 0;100;0 8.173 False ENSG00000182674 ENSG00000182674 HGNC:6232 KDM2A gene KDM2A Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 41468891 False 2 100;0;0 8.173 False ENSG00000173120 ENSG00000173120 HGNC:13606 KIF1BP gene KIF1BP Expert Review Amber;NHS GMS;UKGTN;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Goldberg-Shprintzen megacolon syndrome 609460 15883926;28277559 False 2 67;33;0 8.173 True ENSG00000198954 ENSG00000198954 HGNC:23419 LARGE1 gene LARGE1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000133424 ENSG00000133424 HGNC:6511 LIPT1 gene LIPT1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Lipoyltransferase 1 deficiency 616299 24341803;29681092;31042466;24256811;27247813 False 2 0;100;0 8.173 False ENSG00000144182 ENSG00000144182 HGNC:29569 LIPT2 gene LIPT2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 617668 28757203;28803783 False 2 0;67;33 8.173 False ENSG00000175536 ENSG00000175536 HGNC:37216 LMAN2L gene LMAN2L Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Epilepsy 31020005;26566883 False 2 0;100;0 8.173 False ENSG00000114988 ENSG00000114988 HGNC:19263 LMNB1 gene LMNB1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microcephaly 26, primary, autosomal dominant, OMIM:619179 32910914;33033404 False 2 0;100;0 8.173 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 LYST gene LYST Expert list;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome 214500 False 2 33;67;0 8.173 True ENSG00000143669 ENSG00000143669 HGNC:1968 MANBA gene MANBA Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 2 0;100;0 8.173 False ENSG00000109323 ENSG00000109323 HGNC:6831 MAST1 gene MAST1 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000105613 ENSG00000105613 HGNC:19034 MED17 gene MED17 Expert Review;Expert Review Amber;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668 26004231;20950787;30345598 False 2 20;60;20 8.173 False ENSG00000042429 ENSG00000042429 HGNC:2375 MTR gene MTR Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000116984 ENSG00000116984 HGNC:7468 NCDN gene NCDN Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability;epilepsy 33711248 False 2 0;100;0 8.173 False ENSG00000020129 ENSG00000020129 HGNC:17597 NDP gene NDP Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 2 0;67;33 8.173 False ENSG00000124479 ENSG00000124479 HGNC:7678 NDUFA2 gene NDUFA2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency 256000 28857146;18513682 False 2 0;100;0 8.173 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFAF3 gene NDUFAF3 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 19463981 False 2 33;67;0 8.173 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 15, 618237 19463981;28853723 False 2 0;100;0 8.173 False ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFS1 gene NDUFS1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 11349233;20382551;25615419 False 2 33;67;0 8.173 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 23266820;22036843;20819849;11220739;14749350 False 2 33;67;0 8.173 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS6 gene NDUFS6 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 15372108;19259137;27290639 False 2 33;67;0 8.173 False ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 3, 618224 10330338;17604671;17275378;15269216 False 2 0;100;0 8.173 False ENSG00000115286 ENSG00000115286 HGNC:7714 NECAP1 gene NECAP1 Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 21, 615833;Early onset epileptic encephalopathy (EOEE) 24399846;30525121;30626896 False 2 12;25;62 8.173 False ENSG00000089818 ENSG00000089818 HGNC:24539 NRDC gene NRDC Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41734767 False 2 100;0;0 8.173 False ENSG00000078618 ENSG00000078618 HGNC:7995 NSF gene NSF Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 96, OMIM:619340 31675180;36645181 False 2 0;100;0 8.173 False ENSG00000073969 ENSG00000073969 HGNC:8016 NUBPL gene NUBPL Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 20818383;23553477 False 2 33;67;0 8.173 False ENSG00000151413 ENSG00000151413 HGNC:20278 OTX2 gene OTX2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 2 0;100;0 8.173 False ENSG00000165588 ENSG00000165588 HGNC:8522 PAK2 gene PAK2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Knobloch 2 syndrome, OMIM:618458 33693784;40247748 False 2 100;0;0 8.173 False ENSG00000180370 ENSG00000180370 HGNC:8591 PARP6 gene PARP6 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Epilepsy;Microcephaly 34067418 False 2 100;0;0 8.173 False ENSG00000137817 ENSG00000137817 HGNC:26921 PDSS2 gene PDSS2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 2 0;67;33 8.173 False ENSG00000164494 ENSG00000164494 HGNC:23041 PEX1 gene PEX1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger) 614870 20695019;28784167 False 2 33;67;0 8.173 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX12 gene PEX12 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger) 614859 9090384;9354782 False 2 0;100;0 8.173 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger) 614883 10332040;19449432 False 2 67;33;0 8.173 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX19 gene PEX19 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger) 614886 10051604;20683989 False 2 67;33;0 8.173 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger) 614866 1546315;14630978;14630978 False 2 67;33;0 8.173 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX3 gene PEX3 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger) 614882 10958759;28673549 False 2 67;33;0 8.173 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 1 215100 12325024;9090381;11781871;10083738 False 2 0;100;0 8.173 False ENSG00000112357 ENSG00000112357 HGNC:8860 PIGS gene PIGS Expert list;Expert Review Amber Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 18 618143 30269814 False 2 100;0;0 8.173 False ENSG00000087111 ENSG00000087111 HGNC:14937 POLG2 gene POLG2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000256525 ENSG00000256525 HGNC:9180 POMT2 gene POMT2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 22700954 False 2 33;33;33 8.173 False ENSG00000009830 ENSG00000009830 HGNC:19743 PPP2R1A gene PPP2R1A Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Houge-Janssens syndrome 2, OMIM:616362;Houge-Janssens syndrome 2, MONDO:0014605 33106617 False 2 100;0;0 8.173 False ENSG00000105568 ENSG00000105568 HGNC:9302 PRICKLE1 gene PRICKLE1 Expert;Expert Review Amber;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 2 14;29;57 8.173 False ENSG00000139174 ENSG00000139174 HGNC:17019 PRMT9 gene PRMT9 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41260215 False 2 100;0;0 8.173 False ENSG00000164169 ENSG00000164169 HGNC:25099 PRODH gene PRODH Expert Review;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type I, OMIM:239500;hyperprolinemia type 1, MONDO:0009400 12217952;17412540;18197084 False 2 33;67;0 8.173 False ENSG00000100033 ENSG00000100033 HGNC:9453 PSAT1 gene PSAT1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 2 0;67;33 8.173 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSPH gene PSPH Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency 614023 25080166;26589312;14673469 False 2 0;67;33 8.173 False ENSG00000146733 ENSG00000146733 HGNC:9577 PTF1A gene PTF1A Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Pancreatic and cerebellar agenesis, 609069 21749365;15543146;19650412 False 2 0;100;0 8.173 False ENSG00000168267 ENSG00000168267 HGNC:23734 PTPMT1 gene PTPMT1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 39279645 False 2 0;100;0 8.173 False ENSG00000110536 ENSG00000110536 HGNC:26965 QDPR gene QDPR Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, C, 261630;DHPR deficiency 9341885;26006720;25667865 False 2 33;67;0 8.173 False ENSG00000151552 ENSG00000151552 HGNC:9752 RAB11A gene RAB11A Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay, HP:0001263;Intellectual disability, HP:0001249;seizures 29100083;33875846 False 2 0;0;0 8.173 False ENSG00000103769 ENSG00000103769 HGNC:9760 RAB3GAP1 gene RAB3GAP1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 2 0;67;33 8.173 False ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome 1, OMIM:212720;Warburg micro syndrome 2, OMIM:614225 False 2 0;100;0 8.173 False ENSG00000118873 ENSG00000118873 HGNC:17168 RANBP2 gene RANBP2 Expert Review;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Encephalopathy, acute, infection-induced, 3, susceptibility to}, OMIM:608033 19118815;34377735;36621064;38050538;40538544 False 2 20;60;20 8.173 False ENSG00000153201 ENSG00000153201 HGNC:9848 RNF2 gene RNF2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown epilepsy;intellectual disability;intrauterine growth retardation 33864376 False 2 0;100;0 8.173 False ENSG00000121481 ENSG00000121481 HGNC:10061 RNU4ATAC gene RNU4ATAC Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710 21474761;23794361;22786707 False 2 33;33;33 8.173 False ENSG00000264229 ENSG00000264229 HGNC:34016 RPIA gene RPIA Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Ribose 5-phosphate isomerase deficiency, OMIM:608611 14988808;20499043;28801340;30088433 False 2 0;67;33 8.173 False ENSG00000153574 ENSG00000153574 HGNC:10297 RPS6KC1 gene RPS6KC1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41130203 False 2 100;0;0 8.173 False ENSG00000136643 ENSG00000136643 HGNC:10439 RRM2B gene RRM2B Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000048392 ENSG00000048392 HGNC:17296 RUSC2 gene RUSC2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology Mental retardation, autosomal recessive 61 617773 27612186 False 2 0;75;25 8.173 False ENSG00000198853 ENSG00000198853 HGNC:23625 RYR2 gene RYR2 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ventricular tachycardia, catecholaminergic polymorphic, 1 604772 18483626;29667327;11208676;12093772;11157710;33897349 False 2 25;50;25 8.173 False ENSG00000198626 ENSG00000198626 HGNC:10484 RYR3 gene RYR3 Expert Review;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal idiopathic(non-lesional) partial epilepsy/susceptibility of seizures 25262651;29667327;29498452;31230720;39220738;39840699 False 2 12;25;62 8.173 False ENSG00000198838 ENSG00000198838 HGNC:10485 SAMD12 gene SAMD12 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False Other ENSG00000177570 ENSG00000177570 HGNC:31750 SCO1 gene SCO1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 23878101;11013136;19295170;15023375 False 2 33;67;0 8.173 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 10545952;10749987;18924171;15210538 False 2 33;67;0 8.173 False ENSG00000130489 ENSG00000130489 HGNC:10604 SDHA gene SDHA Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 256000;Mitochondrial respiratory chain complex II deficiency 252011 24367056;16361598 False 2 33;67;0 8.173 False ENSG00000073578 ENSG00000073578 HGNC:10680 SIX3 gene SIX3 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 2 157170;Schizencephaly 269160 28670735;20157829;19346217;18791198 False 2 33;67;0 8.173 False ENSG00000138083 ENSG00000138083 HGNC:10889 SLC31A1 gene SLC31A1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092;Epilepsy, MONDO:0005027 35913762;36562171 False 2 0;100;0 8.173 False ENSG00000136868 ENSG00000136868 HGNC:11016 SLC35A1 gene SLC35A1 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIf, 603585;seizures 23873973;15576474;28856833;30115659;28856833 False 2 25;75;0 8.173 False ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A3 gene SLC35A3 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 24031089;28328131;28777481;16344554 False 2 25;50;25 8.173 False ENSG00000117620 ENSG00000117620 HGNC:11023 SLC45A1 gene SLC45A1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with neuropsychiatric features 617532 28434495;27431290 False 2 0;100;0 8.173 False ENSG00000162426 ENSG00000162426 HGNC:17939 SNF8 gene SNF8 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 38423010 False 2 0;100;0 8.173 False ENSG00000159210 ENSG00000159210 HGNC:17028 SNX27 gene SNX27 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Generalized hypotonia;Global developmental delay;Intellectual disability;Seizures 25894286;31721175;21300787;23524343 False 2 25;75;0 8.173 False ENSG00000143376 ENSG00000143376 HGNC:20073 SPR gene SPR Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 16650784;21431957;28189489 False 2 25;75;0 8.173 False ENSG00000116096 ENSG00000116096 HGNC:11257 SPTBN4 gene SPTBN4 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519 28540413;28940097;29861105;31230720;31857255 False 2 100;0;0 8.173 False ENSG00000160460 ENSG00000160460 HGNC:14896 STARD7 gene STARD7 Expert Review Amber;Literature;Other Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial adult myoclonic, 2, OMIM:607876;epilepsy, familial adult myoclonic, 2, MONDO:0011930 11701600;24114805;31664034 False 2 0;0;0 8.173 False ENSG00000084090 ENSG00000084090 HGNC:18063 SUCLG1 gene SUCLG1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 28358460;27143079;26028457;27484306 False 2 33;67;0 8.173 False ENSG00000163541 ENSG00000163541 HGNC:11449 SYNCRIP gene SYNCRIP Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000135316 ENSG00000135316 HGNC:16918 TANC2 gene TANC2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with autistic features and language delay, with or without seizures, OMIM:618906;intellectual developmental disorder with autistic features and language delay, with or without seizures, MONDO:0030051 31616000;34861844;40110879 False 2 100;0;0 8.173 False ENSG00000170921 ENSG00000170921 HGNC:30212 TBC1D20 gene TBC1D20 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 4, 615663;seizures 24239381 False 2 33;67;0 8.173 False ENSG00000125875 ENSG00000125875 HGNC:16133 TCP1 gene TCP1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021;intellectual developmental disorder with polymicrogyria and seizures, MONDO:0976124 39480921 False 2 100;0;0 8.173 False ENSG00000120438 ENSG00000120438 HGNC:11655 TEFM gene TEFM Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 58, OMIM:620451 36823193 False 2 50;50;0 8.173 False ENSG00000172171 ENSG00000172171 HGNC:26223 TELO2 gene TELO2 Expert Review;Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal You-Hoover-Fong syndrome 616954 27132593;28944240 False 2 0;100;0 8.173 False ENSG00000100726 ENSG00000100726 HGNC:29099 TET3 gene TET3 Expert Review Amber;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Beck-Fahrner syndrome OMIM:618798 31928709 False 2 33;67;0 8.173 False ENSG00000187605 ENSG00000187605 HGNC:28313 TMEM106B gene TMEM106B Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology 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 8.173 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 TMEM70 gene TMEM70 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052;seizures 18953340;21147908;20335238;24485043 False 2 33;67;0 8.173 False ENSG00000175606 ENSG00000175606 HGNC:26050 TNK2 gene TNK2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal severe autosomal recessive infantile onset epilepsy;EE 27977884;23686771 False 2 33;67;0 8.173 False ENSG00000061938 ENSG00000061938 HGNC:19297 TRAF7 gene TRAF7 Expert Review;Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000131653 ENSG00000131653 HGNC:20456 TRAPPC6B gene TRAPPC6B Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862 28626029;28397838;31687267 False 2 50;50;0 8.173 True ENSG00000182400 ENSG00000182400 HGNC:23066 TRIP13 gene TRIP13 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 3, 617598 False 2 0;100;0 8.173 False ENSG00000071539 ENSG00000071539 HGNC:12307 TRRAP gene TRRAP Expert Review;Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 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 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2F, OMIM:617026 25558065;27392077 False 2 25;75;0 8.173 False ENSG00000198860 ENSG00000198860 HGNC:16791 TSEN2 gene TSEN2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2B, 612389 False 2 33;67;0 8.173 True ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN34 gene TSEN34 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Pontocerebellar hypoplasia type 2C, 612390 18711368;20952379 False 2 0;67;33 8.173 False ENSG00000170892 ENSG00000170892 HGNC:15506 TSFM gene TSFM Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3, 610505;seizures 17033963;21119709 False 2 33;67;0 8.173 False ENSG00000123297 ENSG00000123297 HGNC:12367 TUBA8 gene TUBA8 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBB gene TUBB Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 6, 615771 False 2 33;67;0 8.173 False ENSG00000196230 ENSG00000196230 HGNC:20778 TXNRD1 gene TXNRD1 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal genetic generalized epilepsy 28232204;18350150 False 2 0;100;0 8.173 False ENSG00000198431 ENSG00000198431 HGNC:12437 UFC1 gene UFC1 Expert Review;Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spasticity and poor growth, 618076 29868776;27431290 False 2 33;67;0 8.173 False ENSG00000143222 ENSG00000143222 HGNC:26941 USP7 gene USP7 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hao-Fountain syndrome, 616863 19946331;26365382;30679821;33012787 False 2 25;75;0 8.173 True ENSG00000187555 ENSG00000187555 HGNC:12630 VLDLR gene VLDLR Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000147852 ENSG00000147852 HGNC:12698 VPS50 gene VPS50 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000004766 ENSG00000004766 HGNC:25956 WDR62 gene WDR62 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 True ENSG00000075702 ENSG00000075702 HGNC:24502 WSB2 gene WSB2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 40374945 False 2 100;0;0 8.173 False ENSG00000176871 ENSG00000176871 HGNC:19222 XK gene XK Expert list;Expert Review Amber Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000047597 ENSG00000047597 HGNC:12811 YIF1B gene YIF1B Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Kaya-Barakat-Masson syndrome, OMIM:619125 32006098 False 2 0;100;0 8.173 False ENSG00000167645 ENSG00000167645 HGNC:30511 ZMIZ1 gene ZMIZ1 Expert Review;Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000108175 ENSG00000108175 HGNC:16493 ZMYM2 gene ZMYM2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522 32891193 False 2 33;67;0 8.173 False ENSG00000121741 ENSG00000121741 HGNC:12989 AARS2 gene AARS2 Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 1 0;67;33 8.173 False ENSG00000124608 ENSG00000124608 HGNC:21022 ADGRV1 gene ADGRV1 Expert Review Red;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology Febrile seizures, familial, 4, 604352;Usher syndrome, type 2C, 605472;Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 False 1 0;100;0 8.173 False ENSG00000164199 ENSG00000164199 HGNC:17416 ADRA2B gene ADRA2B Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical myoclonus and epilepsy 11701600;18231815;24114805;31664034 False 1 0;67;33 8.173 False ENSG00000222040 ENSG00000274286 HGNC:282 AGMO gene AGMO Expert list;Expert Review Red Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal microcephaly;intellectual disability;epilepsy;generalized tonic-clonic seizures 31555905;27000257 False 1 0;100;0 8.173 False ENSG00000187546 ENSG00000187546 HGNC:33784 AKT1 gene AKT1 Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Proteus syndrome, somatic 176920 23992099;21793738 False 1 50;25;25 8.173 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 ALG12 gene ALG12 Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig 607143 False 1 0;33;67 8.173 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG2 gene ALG2 Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000119523 ENSG00000119523 HGNC:23159 BCORL1 gene BCORL1 Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000085185 ENSG00000085185 HGNC:25657 BET1 gene BET1 Expert Review Red;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, MONDO:0005027 34779586 False 1 50;0;50 8.173 False ENSG00000105829 ENSG00000105829 HGNC:14562 CACNB4 gene CACNB4 Expert;Expert Review Red;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 1 0;27;73 8.173 False ENSG00000182389 ENSG00000182389 HGNC:1404 CAMK2G gene CAMK2G Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early infantile epileptic encephalopathy 30109124;28388656 False 1 0;67;33 8.173 False ENSG00000148660 ENSG00000148660 HGNC:1463 CAMLG gene CAMLG Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIz, OMIM:620201 35262690 False 1 0;0;100 8.173 False ENSG00000164615 ENSG00000164615 HGNC:1471 CASR gene CASR NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000036828 ENSG00000036828 HGNC:1514 CBL gene CBL Expert Review;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 24463883 False 1 0;33;67 8.173 False ENSG00000110395 ENSG00000110395 HGNC:1541 CCDC186 gene CCDC186 Expert Review Red;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy 33259146;28600779 False 1 0;0;100 8.173 False ENSG00000165813 ENSG00000165813 HGNC:24349 CCND2 gene CCND2 Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 24705253 False 1 0;33;67 8.173 True ENSG00000118971 ENSG00000118971 HGNC:1583 CHMP3 gene CHMP3 Expert Review Red;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Complex spastic quadriplegia associated with developmental delay and seizures 35710109 False 1 0;0;0 8.173 False ENSG00000115561 ENSG00000115561 HGNC:29865 CHRM1 gene CHRM1 Expert Review Red;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental delay;intellectual disability, MONDO:0001071;autism 34212451;31981491;12483218 False 1 0;100;0 8.173 False ENSG00000168539 ENSG00000168539 HGNC:1950 CLCN2 gene CLCN2 Expert Review Red;Literature;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLCN6 gene CLCN6 Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal 29667327;26658788;25794116 False 1 0;50;50 8.173 False ENSG00000011021 ENSG00000011021 HGNC:2024 CLN5 gene CLN5 Expert;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 1 0;33;67 8.173 False ENSG00000102805 ENSG00000102805 HGNC:2076 CPA6 gene CPA6 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000165078 ENSG00000165078 HGNC:17245 CRH gene CRH Expert;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 1 0;17;83 8.173 False ENSG00000147571 ENSG00000147571 HGNC:2355 CSNK2A1 gene CSNK2A1 Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Okur-Chung neurodevelopmental syndrome, OMIM:617062 30655572;27048600 False 1 0;67;33 8.173 False ENSG00000101266 ENSG00000101266 HGNC:2457 DMBX1 gene DMBX1 Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal global developmental delay, intellectual disability, and epilepsy 25558065 False 1 0;67;33 8.173 False ENSG00000197587 ENSG00000197587 HGNC:19026 EIF2A gene EIF2A Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Seizures;ASD 31130284 False 1 0;0;100 8.173 False ENSG00000144895 ENSG00000144895 HGNC:3254 FIG4 gene FIG4 Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 1 0;67;33 8.173 False ENSG00000112367 ENSG00000112367 HGNC:16873 FTL gene FTL Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal L-ferritin deficiency, dominant and recessive 615604 23940258 False 1 0;50;50 8.173 False ENSG00000087086 ENSG00000087086 HGNC:3999 FUT2 gene FUT2 Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 39350204 False 1 0;0;0 8.173 False ENSG00000176920 ENSG00000176920 HGNC:4013 GAL gene GAL Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Epilepsy, familial temporal lobe, 8 616461 25691535 False 1 0;67;33 8.173 False ENSG00000069482 ENSG00000069482 HGNC:4114 GATAD2B gene GATAD2B Expert Review;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology Willemsen et al (2013) J Med Genet 50:507 514 False 1 0;17;83 8.173 False ENSG00000143614 ENSG00000143614 HGNC:30778 GATM gene GATM Expert;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3, OMIM:612718 26490222;11555793 False 1 0;14;86 8.173 False ENSG00000171766 ENSG00000171766 HGNC:4175 GLRB gene GLRB Expert;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2, 614619 21391991 False 1 0;17;83 8.173 False ENSG00000109738 ENSG00000109738 HGNC:4329 GNB2 gene GNB2 Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sturge-Weber syndrome, somatic, mosaic, OMIM:185300 34124757 False 1 0;0;100 8.173 False ENSG00000172354 ENSG00000172354 HGNC:4398 IDH2 gene IDH2 Expert Review;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown D-2-hydroxyglutaric aciduria 2, 613657 20847235;24049096 False 1 25;75;0 8.173 True ENSG00000182054 ENSG00000182054 HGNC:5383 INO80 gene INO80 Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability, epilepsy and primary microcephaly 25558065 False 1 0;33;67 8.173 False ENSG00000128908 ENSG00000128908 HGNC:26956 KCNH8 gene KCNH8 Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Familial Progressive Myoclonus Epilepsy 39156922 False 1 0;0;100 8.173 False ENSG00000183960 ENSG00000183960 HGNC:18864 KMT5B gene KMT5B Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 51, 617788 29276005;28191889 False 1 0;33;67 8.173 False ENSG00000110066 ENSG00000110066 HGNC:24283 LMNB2 gene LMNB2 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Epilepsy, progressive myoclonic, 9, OMIM:616540 16826530;25954030;33033404 False 1 0;33;67 8.173 False ENSG00000176619 ENSG00000176619 HGNC:6638 MAGI2 gene MAGI2 Expert Review Red;NHS GMS;UKGTN;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 15 617609;Infantile Spasms 18565486;27932480;21694734;31056551 False 1 55;9;36 8.173 False ENSG00000187391 ENSG00000187391 HGNC:18957 MAPK10 gene MAPK10 Expert;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic Encephalopathy;EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE 23329067 False 1 57;14;29 8.173 False ENSG00000109339 ENSG00000109339 HGNC:6872 MATN4 gene MATN4 Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Global developmental delay, holoprosencephaly, microcephaly, lumbosacral myelomeningocele, epilepsy, proptosis, and diabetes insipidus 25558065 False 1 0;33;67 8.173 False ENSG00000124159 ENSG00000124159 HGNC:6910 MCM3AP gene MCM3AP Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 618124 32202298 False 1 0;0;100 8.173 False ENSG00000160294 ENSG00000160294 HGNC:6946 MT-CO3 gene MT-CO3 Expert Review Red;Literature Early onset or syndromic epilepsy Neurology MITOCHONDRIAL seizures 8739943;12915481 False 1 0;0;0 8.173 False ENSG00000198938 ENSG00000198938 HGNC:7422 MT-TL1 gene MT-TL1 Expert Review Red;NHS GMS;UKGTN;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MITOCHONDRIAL False 1 0;17;83 8.173 False ENSG00000209082 ENSG00000209082 HGNC:7490 MYO1H gene MYO1H Expert Review Red;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482 28779001 False 1 0;0;100 8.173 False ENSG00000174527 ENSG00000174527 HGNC:13879 NDUFA11 gene NDUFA11 Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology Mitochondrial complex I deficiency 252010 18306244 False 1 0;100;0 8.173 False ENSG00000174886 ENSG00000174886 HGNC:20371 NID1 gene NID1 Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, focal epilepsy and hemiparesis 25558065 False 1 0;33;67 8.173 False ENSG00000116962 ENSG00000116962 HGNC:7821 NRAS gene NRAS Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 1 0;67;33 8.173 False ENSG00000213281 ENSG00000213281 HGNC:7989 PCDHB4 gene PCDHB4 Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability, microcephaly and epilepsy 25558065 False 1 0;33;67 8.173 False ENSG00000081818 ENSG00000081818 HGNC:8689 PCLO gene PCLO Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 1 0;25;75 8.173 False ENSG00000186472 ENSG00000186472 HGNC:13406 PIK3CA gene PIK3CA Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501 22729224;22228622;22729223 False 1 33;67;0 8.173 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 PRDM8 gene PRDM8 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Epilepsy, progressive myoclonic, 10, 616640 22961547 False 1 0;50;50 8.173 False ENSG00000152784 ENSG00000152784 HGNC:13993 PRICKLE2 gene PRICKLE2 Expert;Expert Review Red;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 1 0;33;67 8.173 False ENSG00000163637 ENSG00000163637 HGNC:20340 PSMB8 gene PSMB8 Expert list;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 20534754 False 1 0;33;67 8.173 False ENSG00000204264 ENSG00000204264 HGNC:9545 PTCH1 gene PTCH1 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 7, OMIM:610828 False 1 0;50;50 8.173 False ENSG00000185920 ENSG00000185920 HGNC:9585 RALGAPB gene RALGAPB Expert Review Red;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorders, autism 32853829 False 1 0;100;0 8.173 False ENSG00000170471 ENSG00000170471 HGNC:29221 RNU12 gene RNU12 Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellar ataxia, autosomal recessive 33, OMIM:620208 27863452;33577674 False 1 0;0;100 8.173 False ENSG00000270022 ENSG00000276027 HGNC:19380 RNU5A-1 gene RNU5A-1 Expert Review Red;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092 40379786 False 1 0;0;0 8.173 False ENSG00000199568 ENSG00000199568 HGNC:10211 RTEL1 gene RTEL1 Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Familial Progressive Myoclonus Epilepsy 39156922 False 1 0;0;100 8.173 False ENSG00000258366 ENSG00000258366 HGNC:15888 RUBCN gene RUBCN Expert Review;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705 20826435 False 1 0;25;75 8.173 False ENSG00000145016 ENSG00000145016 HGNC:28991 SCN2B gene SCN2B Expert;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 1 0;17;83 8.173 False ENSG00000149575 ENSG00000149575 HGNC:10589 SCN9A gene SCN9A Expert;Expert Review Red;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;North West GLH;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000169432 ENSG00000169432 HGNC:10597 SEC24D gene SEC24D Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability and epilepsy 25558065 False 1 0;33;67 8.173 False ENSG00000150961 ENSG00000150961 HGNC:10706 SEC31A gene SEC31A Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 618651 30464055 False 1 0;100;0 8.173 False ENSG00000138674 ENSG00000138674 HGNC:17052 SHH gene SHH Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 1 0;100;0 8.173 False ENSG00000164690 ENSG00000164690 HGNC:10848 SLC25A19 gene SLC25A19 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly, Amish type, 607196;Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 False 1 0;50;50 8.173 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC5A6 gene SLC5A6 Expert list;Expert Review Red;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973 27904971;31392107;31754459;23104561;29669219;35013551;38036278;38012394;37391029;31754459 False 1 25;0;75 8.173 False ENSG00000138074 ENSG00000138074 HGNC:11041 SLC6A19 gene SLC6A19 Expert Review;Expert Review Red;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hartnup disorder, 234500 27604308;20399395;19335424;24596948;15592994 False 1 33;67;0 8.173 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A5 gene SLC6A5 Expert;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, 614618 False 1 0;43;57 8.173 False ENSG00000165970 ENSG00000165970 HGNC:11051 SLC7A6OS gene SLC7A6OS Expert Review Red;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic, 12 OMIM:619191 25803583;33085104 False 1 0;0;100 8.173 False ENSG00000103061 ENSG00000103061 HGNC:25807 SRPX2 gene SRPX2 Expert;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000102359 ENSG00000102359 HGNC:30668 STIL gene STIL Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly 7, primary, 612703 False 1 0;50;50 8.173 False ENSG00000123473 ENSG00000123473 HGNC:10879 TGIF1 gene TGIF1 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 4, 142946 False 1 0;50;50 8.173 False ENSG00000177426 ENSG00000177426 HGNC:11776 TUBA3E gene TUBA3E Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Global developmental delay, primary microcephaly, lissencephaly, epilepsy 25558065 False 1 0;33;67 8.173 False ENSG00000152086 ENSG00000152086 HGNC:20765 TXN2 gene TXN2 Expert Review Red;Literature Early onset or syndromic epilepsy Neurology 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 8.173 False ENSG00000100348 ENSG00000100348 HGNC:17772 UNC13B gene UNC13B Expert Review Red;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted partial epilepsy, MONDO:0005384 33876820;35380625 False 1 0;0;100 8.173 False ENSG00000198722 ENSG00000198722 HGNC:12566 ZIC2 gene ZIC2 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 5, 609637 False 1 0;50;50 8.173 False ENSG00000043355 ENSG00000043355 HGNC:12873 ATN1_CAG str ATN1 Expert Review Green;NHS GMS;Expert Review Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubral-pallidoluysian atrophy, OMIM:125370 False 3 100;0;0 8.173 False ENSG00000111676 ENSG00000111676 HGNC:3033 12 7045880 7045936 6936717 6936772 CAG 36 48 CSTB_CCCCGCCCCGCG str CSTB Expert Review Green;NHS GMS;Expert list Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 False 3 0;0;0 8.173 False ENSG00000160213 ENSG00000160213 HGNC:2482 21 45196328 45196351 43776429 43776470 CCCCGCCCCGCG 18 30 SAMD12_TTTCA str SAMD12 Literature Early onset or syndromic epilepsy Neurology 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 False 1 100;0;0 8.173 False ENSG00000177570 ENSG00000177570 HGNC:31750 8 118366902 118367003 TTTCA 0 100 STARD7_ATTTC str STARD7 Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial adult myoclonic, 2, OMIM:607876;epilepsy, familial adult myoclonic, 2, MONDO:0011930 31664034 False 1 100;0;0 8.173 False ENSG00000084090 ENSG00000084090 HGNC:18063 2 96197066 96197121 ATTTC 0 274 ISCA-37411-Loss region NHS GMS;Expert Review Green;ClinGen Early onset or syndromic epilepsy Neurology 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 8.173 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 Early onset or syndromic epilepsy Neurology 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 8.173 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 Early onset or syndromic epilepsy Neurology 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 8.173 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 Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wolf-Hirschhorn syndrome, OMIM:194190 20026556;14630905 False 3 100;0;0 8.173 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 Early onset or syndromic epilepsy Neurology 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 8.173 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 Early onset or syndromic epilepsy Neurology 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 8.173 False 17 36458167 37854616 3 60 cnv_gain 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain ISCA-37434-Loss region NHS GMS;Expert Review Green;ClinGen Early onset or syndromic epilepsy Neurology 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 8.173 False 1 898703 6229913 3 60 cnv_loss 1p36 terminal region (includes GABRD) Loss ISCA-37446-Loss region Expert Review Green;ClinGen Early onset or syndromic epilepsy Neurology 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 8.173 False 22 18924718 21111383 3 60 cnv_loss 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss ISCA-37448-Loss region Expert Review Green;ClinGen Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay/intellectual disability, epilepsy, autism spectrum disorder, schizophrenia, congenital heart disease, and variable dysmorphic features 31451536;24352232;30767844;31665216 False 3 100;0;0 8.173 False 15 22782170 23040134 3 60 cnv_loss 15q11.2 recurrent region (BP1-BP2) (includes NIPA1) Loss ISCA-37478-Gain region NHS GMS;Expert Review Green;ClinGen Early onset or syndromic epilepsy Neurology 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 8.173 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 Early onset or syndromic epilepsy Neurology 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 8.173 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 Early onset or syndromic epilepsy Neurology 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 8.173 False 1 243124428 245154985 3 60 cnv_loss 1q43q44 terminal region (includes AKT3) Loss ISCA-46290-Gain region NHS GMS;Expert Review Green;ClinGen Early onset or syndromic epilepsy Neurology 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 8.173 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 Early onset or syndromic epilepsy Neurology 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 8.173 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 Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 31204719;19888295;20301607;25719193;30836598 False 3 100;0;0 8.173 False 16 21558792 21729102 30 60 cnv_loss 16p12.2 recurrent region (distal)(includes OTOA) Loss ISCA-46304-Gain region ClinGen;Expert Review Green Early onset or syndromic epilepsy Neurology 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 8.173 False X 154008529 154110279 3 60 cnv_gain Xq28 region (includes MECP2) Gain ISCA-46743-Gain region ClinGen;Expert Review Green Early onset or syndromic epilepsy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 23637084;24733578;26443594;25677961;31609727 False 3 100;0;0 8.173 False X 123900469 124102669 3 60 cnv_gain Xq25 region (includes STAG2) Gain