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 ADSL gene ADSL Expert;Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Adenylosuccinase deficiency Kmoch et al (2000) Hum Mol Genet 9(10): 1501-1513 False 3 100;0;0 1.158 True ENSG00000239900 ENSG00000239900 HGNC:291 ALG11 gene ALG11 Expert Review Green;Other Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type Ip 613661" False 3 100;0;0 1.158 False ENSG00000253710 ENSG00000253710 HGNC:32456 ALG13 gene ALG13 Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 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 Ligt et al (2012) N Eng J Med 367: 1921-9;Epi4K Consortium & Epilepsy Phenome/Genome Project (2013) Nature 215:217-223 False 3 100;0;0 1.158 True ENSG00000101901 ENSG00000101901 HGNC:30881 ARHGEF9 gene ARHGEF9 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females False 3 100;0;0 1.158 True ENSG00000131089 ENSG00000131089 HGNC:14561 ARX gene ARX Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females 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;Kato et al (2004) Hum Mut 23: 147-159 False 3 100;0;0 1.158 True ENSG00000004848 ENSG00000004848 HGNC:18060 ATP1A3 gene ATP1A3 Expert;Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 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 3 100;0;0 1.158 True ENSG00000105409 ENSG00000105409 HGNC:801 ATP6V0A2 gene ATP6V0A2 Expert Review Green;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIA 219200;Wrinkly skin syndrome 278250 18157129;22773132 False 3 100;0;0 1.158 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATRX gene ATRX Expert;Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Alpha-thalassemia/mental retardation syndrome;Mental retardation-hypotonic facies syndrome, X-linked Gibbons et al (1995) Cell 80: 837-845;Stevenson et al (2000) Am J Med Genet 94: 383-385 False 3 100;0;0 1.158 True ENSG00000085224 ENSG00000085224 HGNC:886 BSCL2 gene BSCL2 Expert Review Green;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Encephalopathy, progressive, with or without lipodystrophy 615924;Lipodystrophy, congenital generalized, type 2 269700;Neuropathy, distal hereditary motor, type VA 600794;Silver spastic paraplegia syndrome 270685 24896178;26503795;23564749;15181077 False 3 100;0;0 1.158 False ENSG00000168000 ENSG00000168000 HGNC:15832 CACNA1D gene CACNA1D Expert Review Green;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD;Sinoatrial node dysfunction and deafness 614896 AR 28472301;23913001 False 3 100;0;0 1.158 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157388 ENSG00000157388 HGNC:1391 CDKL5 gene CDKL5 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 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 3 100;0;0 1.158 True ENSG00000008086 ENSG00000008086 HGNC:11411 CHD2 gene CHD2 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPILEPTIC ENCEPHALOPATHY False 3 100;0;0 1.158 True ENSG00000173575 ENSG00000173575 HGNC:1917 CIC gene CIC Expert Review Green;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 45 617600 21076407;28288114;24896178 False 3 100;0;0 1.158 False ENSG00000079432 ENSG00000079432 HGNC:14214 CLTC gene CLTC Expert Review Green;Other Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 56, 617854;Autosomal dominant non-syndromic intellectual disability;Epilepsy and intellectual disability 26822784;29100083 False 3 100;0;0 1.158 False ENSG00000141367 ENSG00000141367 HGNC:2092 CNTNAP2 gene CNTNAP2 Expert;Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 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 3 100;0;0 1.158 True ENSG00000174469 ENSG00000174469 HGNC:13830 CYFIP2 gene CYFIP2 Expert Review Green;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 29534297 False 3 0;0;0 1.158 False ENSG00000055163 ENSG00000055163 HGNC:13760 DIAPH1 gene DIAPH1 Expert Review Green;Other Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seizures, cortical blindness, microcephaly syndrome, MIM:616632 24781755; 26463574 False 3 0;0;0 1.158 False ENSG00000131504 ENSG00000131504 HGNC:2876 DNM1 gene DNM1 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11 False 3 100;0;0 1.158 True ENSG00000106976 ENSG00000106976 HGNC:2972 DOCK7 gene DOCK7 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23;EIEE23 Perrault et al (2014) AJHG 94(6). 891-897 False 3 100;0;0 1.158 True ENSG00000116641 ENSG00000116641 HGNC:19190 DPYD gene DPYD Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal " 5-fluorouracil toxicity 274270; Dihydropyrimidine dehydrogenase deficiency 274270" False 3 100;0;0 1.158 False ENSG00000188641 ENSG00000188641 HGNC:3012 DYRK1A gene DYRK1A Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 PMID: 25707398;21294719;23160955;23099646 False 3 100;0;0 1.158 True ENSG00000157540 ENSG00000157540 HGNC:3091 EHMT1 gene EHMT1 Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kleefstra syndrome PMID: 16826528 False 3 100;0;0 1.158 True ENSG00000181090 ENSG00000181090 HGNC:24650 EML1 gene EML1 Expert Review Green;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Band heterotopia, 600348 24859200; 28556411 False 3 0;0;0 1.158 False ENSG00000066629 ENSG00000066629 HGNC:3330 EPG5 gene EPG5 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 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 0;0;0 1.158 False ENSG00000152223 ENSG00000152223 HGNC:29331 FOXG1 gene FOXG1 Expert;Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rett syndrome, congenital variant PMID: 21441262 False 3 100;0;0 1.158 True ENSG00000176165 ENSG00000176165 HGNC:3811 GABBR2 gene GABBR2 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY;Rett syndrome EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11;29100083;28061363;28135719;28135719;28856709 False 3 0;0;100 1.158 False ENSG00000136928 ENSG00000136928 HGNC:4507 GABRA1 gene GABRA1 Expert;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 19;EPILEPTIC ENCEPHALOPATHY Carvill et al (2014) Neurology 82: 1245-1253 False 3 100;0;0 1.158 True ENSG00000022355 ENSG00000022355 HGNC:4075 GABRB3 gene GABRB3 Expert;Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 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 3 100;0;0 1.158 True ENSG00000166206 ENSG00000166206 HGNC:4083 GLYCTK gene GLYCTK Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal D-glyceric aciduria 220120 3588091 False 3 100;0;0 1.158 False ENSG00000168237 ENSG00000168237 HGNC:24247 GNAO1 gene GNAO1 Expert Review Green;Radboud University Medical Center, Nijmegen Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPILEPTIC ENCEPHALOPATHY;Epileptic encephalopathy, early infantile, 17 Nakamura (2013);Saitsu (2015) False 3 100;0;0 1.158 True ENSG00000087258 ENSG00000087258 HGNC:4389 GPAA1 gene GPAA1 Expert Review Green;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 15, 617810 29100095;24896178 False 3 100;0;0 1.158 False ENSG00000197858 ENSG00000197858 HGNC:4446 GRIN1 gene GRIN1 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820;NDHMSR;Mental retardation, autosomal dominant 8;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254;NDHMSD;early onset epileptic encephalopathies;involuntary movements;severe developmental delay;intellectual disability;EPILEPTIC ENCEPHALOPATHY 25864721;23934111;21376300;28228639;27164704;28051072 False 3 100;0;0 1.158 True ENSG00000176884 ENSG00000176884 HGNC:4584 GRIN2A gene GRIN2A Expert;Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 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 3 100;0;0 1.158 True ENSG00000183454 ENSG00000183454 HGNC:4585 GRIN2B gene GRIN2B Expert;Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 6;Epileptic encephalopathy, early infantile, 27;EPILEPTIC ENCEPHALOPATHY;AUTISM Endele et al (2010) Nature Genet 42(11): 1021-1028 False 3 100;0;0 1.158 True ENSG00000273079 ENSG00000273079 HGNC:4586 GSS gene GSS Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutathione synthetase deficiency 266130; Hemolytic anemia due to glutathione synthetase deficiency 231900 False 3 100;0;0 1.158 False ENSG00000100983 ENSG00000100983 HGNC:4624 HCN1 gene HCN1 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 24 Nava et al (2014) Nature Genet 46(6). 640-648 False 3 100;0;0 1.158 True ENSG00000164588 ENSG00000164588 HGNC:4845 HMGCL gene HMGCL Expert Review Green;Other Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMG-CoA lyase deficiency, 246450;3-Hydroxy-3-methylglutaryl-CoA lyase deficiency;HMGCLD 28583327;8617516;9463337;11129331 False 3 100;0;0 1.158 False ENSG00000117305 ENSG00000117305 HGNC:5005 HNRNPH2 gene HNRNPH2 Expert Review Green;Other Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 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 3 100;0;0 1.158 False ENSG00000126945 ENSG00000126945 HGNC:5042 HNRNPU gene HNRNPU Expert Review Green;Radboud University Medical Center, Nijmegen Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy;Epileptic encephalopathy, early infantile, 54, 617391 22190369;25356899;27652284;23708187 False 3 0;0;100 1.158 False ENSG00000153187 ENSG00000153187 HGNC:5048 HTRA2 gene HTRA2 Expert Review Green;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "3-methylglutaconic aciduria, type VIII 617248" 27208207; 27696117 False 3 100;0;0 1.158 False ENSG00000115317 ENSG00000115317 HGNC:14348 IDH2 gene IDH2 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "D-2-hydroxyglutaric aciduria 2 613657" 20847235;24049096 False 3 100;0;0 1.158 False ENSG00000182054 ENSG00000182054 HGNC:5383 IER3IP1 gene IER3IP1 Expert Review Green;Other Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, 614231;MEDS 21835305;22991235;24138066 False 3 100;0;0 1.158 False ENSG00000134049 ENSG00000134049 HGNC:18550 IQSEC2 gene IQSEC2 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 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 1 Shoubridge et al (2010) Nat Genet 42(6): 486-8 False 3 100;0;0 1.158 True ENSG00000124313 ENSG00000124313 HGNC:29059 ITPA gene ITPA Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 35, 616647 False 3 100;0;0 1.158 False ENSG00000125877 ENSG00000125877 HGNC:6176 KCNA2 gene KCNA2 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 32;EPILEPTIC ENCEPHALOPATHY Syrbe et al (2015) Nat Genet 47(4): 393-9 False 3 100;0;0 1.158 True ENSG00000177301 ENSG00000177301 HGNC:6220 KCNB1 gene KCNB1 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 26 Torkamani et al (2014) Ann. Neurol. 76: 529-540, 2014 False 3 100;0;0 1.158 True ENSG00000158445 ENSG00000158445 HGNC:6231 KCNJ10 gene KCNJ10 Expert;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME);SESAME syndrome Scholl et al (2009) False 3 100;0;0 1.158 True ENSG00000177807 ENSG00000177807 HGNC:6256 KCNQ2 gene KCNQ2 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted BENIGN NEONATAL EPILEPSY TYPE 1 (EBN1);EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 (EIEE7);Epileptic encephalopathy, early infantile, 7;Myokymia;Seizures, benign neonatal, 1 Dedek et al (2003) Epilepsy Res 54: 21-27 False 3 100;0;0 1.158 True ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 Expert;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign neonatal, type 2 False 3 100;0;0 1.158 True ENSG00000184156 ENSG00000184156 HGNC:6297 KCNT1 gene KCNT1 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 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 3 100;0;0 1.158 True ENSG00000107147 ENSG00000107147 HGNC:18865 KIF1BP gene KIF1BP Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Goldberg-Shprintzen megacolon syndrome Brooks et al (2005) Am J Hum Genet 77: 120_126;Brooks et al (2005) Am J Hum Genet 77: 120_126 False 3 100;0;0 1.158 True ENSG00000198954 ENSG00000198954 HGNC:23419 MAPK10 gene MAPK10 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic Encephalopathy;EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE PMID: 23329067 False 3 100;0;0 1.158 False ENSG00000109339 ENSG00000109339 HGNC:6872 MBD5 gene MBD5 Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 1 Wagenstaller et al (2007) Am J Hum Genet 81: 768-779 False 3 100;0;0 1.158 True ENSG00000204406 ENSG00000204406 HGNC:20444 MDH2 gene MDH2 Expert Review Green;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 51 617339" 27989324 False 3 100;0;0 1.158 False ENSG00000146701 ENSG00000146701 HGNC:6971 MECP2 gene MECP2 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 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 3 100;0;0 1.158 True ENSG00000169057 ENSG00000169057 HGNC:6990 MEF2C gene MEF2C Expert;Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 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 3 100;0;0 1.158 True ENSG00000081189 ENSG00000081189 HGNC:6996 MFF gene MFF Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 False 3 100;0;0 1.158 False ENSG00000168958 ENSG00000168958 HGNC:24858 MOGS gene MOGS Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb, 606056 False 3 100;0;0 1.158 False ENSG00000115275 ENSG00000115275 HGNC:24862 MTOR gene MTOR Expert Review Green;Other Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Focal cortical dysplasia, type II, somatic 607341" 26018084;27830187;25878179 False 3 100;0;0 1.158 False Other - please provide details in the comments ENSG00000198793 ENSG00000198793 HGNC:3942 NACC1 gene NACC1 Expert Review Green;Other Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 28132692 False 3 0;0;0 1.158 False ENSG00000160877 ENSG00000160877 HGNC:20967 NEXMIF gene NEXMIF Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 98 PMID:23615299 False 3 100;0;0 1.158 True ENSG00000050030 ENSG00000050030 HGNC:29433 PCDH19 gene PCDH19 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 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 3 100;0;0 1.158 True Other - please provide details in the comments ENSG00000165194 ENSG00000165194 HGNC:14270 PIGA gene PIGA Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2 Johnston et al (2012) Am J Hum Genet 90, 295 300 False 3 100;0;0 1.158 True ENSG00000165195 ENSG00000165195 HGNC:8957 PIGT gene PIGT Expert Review Green;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398" 28327575 False 3 100;0;0 1.158 False ENSG00000124155 ENSG00000124155 HGNC:14938 PLCB1 gene PLCB1 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early Infantile Epileptic Encephalopathy, Autosomal Recessive;Epileptic encephalopathy, early infantile, 12 Kurian et al (2010) Brain 133: 2964_2970 False 3 100;0;0 1.158 True ENSG00000182621 ENSG00000182621 HGNC:15917 PLPBP gene PLPBP Expert Review Green;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, early-onset, vitamin B6-dependent, 617290 27912044 False 3 100;0;0 1.158 False ENSG00000147471 ENSG00000147471 HGNC:9457 PNKP gene PNKP Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 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 3 100;0;0 1.158 True ENSG00000039650 ENSG00000039650 HGNC:9154 POLG gene POLG Expert;Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 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 3 100;0;0 1.158 True ENSG00000140521 ENSG00000140521 HGNC:9179 PRODH gene PRODH Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type I 239500 False 3 100;0;0 1.158 False ENSG00000100033 ENSG00000100033 HGNC:9453 PRRT2 gene PRRT2 Expert;Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 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 3 100;0;0 1.158 True ENSG00000167371 ENSG00000167371 HGNC:30500 PURA gene PURA Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 31;INTELLECTUAL DISABILITY PMID:25342064;Lalani (2014) False 3 100;0;0 1.158 True ENSG00000185129 ENSG00000185129 HGNC:9701 QARS gene QARS Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Zang et al (2014) AJHG 94, 547 558 False 3 100;0;0 1.158 True ENSG00000172053 ENSG00000172053 HGNC:9751 RANBP2 gene RANBP2 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033" 25522933;19118815 False 3 100;0;0 1.158 False ENSG00000153201 ENSG00000153201 HGNC:9848 SCN1A gene SCN1A Expert;Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dravet syndrome;Epilepsy, generalized, with febrile seizures plus, type 2;Febrile seizures, familial, 3A Claes et al (2001) Am J Hum Genet 68: 1327_1332;Escayg et al (2000) Nature Genet 24: 343-345 False 3 100;0;0 1.158 True ENSG00000144285 ENSG00000144285 HGNC:10585 SCN1B gene SCN1B Expert;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, generalized, with febrile seizures plus, type 1 Wallace et al (2002) Neurology 58: 1426-1429 False 3 100;0;0 1.158 True ENSG00000105711 ENSG00000105711 HGNC:10586 SCN2A gene SCN2A Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Seizures, benign familial infantile, 3;Epileptic encephalopathy, early infantile, 11;BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES Kamiya et al (2004) J of Neuro 24(11): 2690 _2698;Heron et al (2002) Lancet 360: 851_852. False 3 100;0;0 1.158 True ENSG00000136531 ENSG00000136531 HGNC:10588 SCN8A gene SCN8A Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cognitive impairment with or without cerebellar ataxia;Intellectual disability;Epileptic encephalopathy, early infantile, 13 Trudeau et al (2004) J Med Genet 43: 527_530;O'Brien and Meisler (2013) Frontiers in Genet 4(213): 1-9;Veeramah et al (2012) Am J Hum Genet 90: 502_510 False 3 100;0;0 1.158 True ENSG00000196876 ENSG00000196876 HGNC:10596 SETD5 gene SETD5 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 23 False 3 100;0;0 1.158 True ENSG00000168137 ENSG00000168137 HGNC:25566 SIK1 gene SIK1 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NEONATAL EPILEPSY SPECTRUM;Epileptic encephalopathy, early infantile, 30 PMID: 25839329 False 3 100;0;0 1.158 True ENSG00000142178 ENSG00000142178 HGNC:11142 SLC12A5 gene SLC12A5 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal epilepsy of infancy with migrating focal seizures (EIMFS) PMID: 26333769;24668262 False 3 100;0;0 1.158 True ENSG00000124140 ENSG00000124140 HGNC:13818 SLC13A5 gene SLC13A5 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 25 Thevenon et al (2014) AJHG 95, 113 120 False 3 100;0;0 1.158 True ENSG00000141485 ENSG00000141485 HGNC:23089 SLC16A2 gene SLC16A2 Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome Maranduba et al (2006) J Med Genet 43: 457_460 False 3 100;0;0 1.158 True ENSG00000147100 ENSG00000147100 HGNC:10923 SLC1A2 gene SLC1A2 Expert Review Green;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 41, 617105 27476654;28777935;23934111;9180080;28915517 False 3 100;0;0 1.158 False ENSG00000110436 ENSG00000110436 HGNC:10940 SLC25A1 gene SLC25A1 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Combined D-2- and L-2-hydroxyglutaric aciduria 615182" False 3 100;0;0 1.158 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A22 gene SLC25A22 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 3 Molinari et al (2005) Am J Hum Genet 76: 334_339 False 3 100;0;0 1.158 True ENSG00000177542 ENSG00000177542 HGNC:19954 SLC2A1 gene SLC2A1 Expert;Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia 9 Weber et al (2011) Neurology 77: 959-964 False 3 100;0;0 1.158 True ENSG00000117394 ENSG00000117394 HGNC:11005 SLC35A2 gene SLC35A2 Expert Review Green;Other Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 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 24115232;27743886 False 3 0;0;0 1.158 False ENSG00000102100 ENSG00000102100 HGNC:11022 SLC6A1 gene SLC6A1 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Carvill et al (2015) Am J Hum Genet 96(5): 808-15 False 3 100;0;0 1.158 True ENSG00000157103 ENSG00000157103 HGNC:11042 SLC6A19 gene SLC6A19 Expert Review;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal " Hartnup disorder 234500" 27604308; 20399395; 19335424 False 3 100;0;0 1.158 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC9A6 gene SLC9A6 Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Christianson type Gilfillan et al (2008) Am J Hum Genet 82: 1003_1010 False 3 100;0;0 1.158 True ENSG00000198689 ENSG00000198689 HGNC:11079 SPATA5 gene SPATA5 Expert Review Green;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, hearing loss, and mental retardation syndrome 616577 26299366;29343804 False 3 100;0;0 1.158 False ENSG00000145375 ENSG00000145375 HGNC:18119 SPTAN1 gene SPTAN1 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 5 Saitsu et al (2010) Am J Hum Genet 86: 881_891 False 3 100;0;0 1.158 True ENSG00000197694 ENSG00000197694 HGNC:11273 STX1B gene STX1B Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 25362483 False 3 100;0;0 1.158 True ENSG00000099365 ENSG00000099365 HGNC:18539 STXBP1 gene STXBP1 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 4 Saitsu et al (2008) Nature Genet 40 (6): 782-788 False 3 25;0;75 1.158 True ENSG00000136854 ENSG00000136854 HGNC:11444 SUOX gene SUOX Emory Genetics Laboratory;Expert Review;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Sulfite oxidase deficiency 272300" 27604308; 27289259; 12112661 False 3 100;0;0 1.158 False ENSG00000139531 ENSG00000139531 HGNC:11460 SYNGAP1 gene SYNGAP1 Expert;Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 5 Hamden et al (2009) N Engl J Med 360: 599-605 False 3 100;0;0 1.158 True ENSG00000197283 ENSG00000197283 HGNC:11497 SYNJ1 gene SYNJ1 Expert Review Green;Other Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 53, 617389 27435091 False 3 0;0;0 1.158 False ENSG00000159082 ENSG00000159082 HGNC:11503 SZT2 gene SZT2 Expert Review Green;Radboud University Medical Center, Nijmegen Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 18, 615476" 23932106;28893434 False 3 0;0;100 1.158 False ENSG00000198198 ENSG00000198198 HGNC:29040 TCF4 gene TCF4 Expert;Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pitt-Hopkins syndrome Zweier et al (2007) Am J Hum Genet 80: 994_1001 False 3 100;0;0 1.158 True ENSG00000196628 ENSG00000196628 HGNC:11634 TRAK1 gene TRAK1 Expert Review Green;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fatal encephalopathy 28364549 False 3 100;0;0 1.158 False ENSG00000182606 ENSG00000182606 HGNC:29947 TRPM6 gene TRPM6 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal 602014 False 3 100;0;0 1.158 False ENSG00000119121 ENSG00000119121 HGNC:17995 UBE2A gene UBE2A Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 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 3 100;0;0 1.158 True ENSG00000077721 ENSG00000077721 HGNC:12472 UBE3A gene UBE3A Expert;Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Angelman syndrome Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117;9887341;8988171;8988172;21974935;[7795645;2309780;12545427;18500341] False 3 100;0;0 1.158 True ENSG00000114062 ENSG00000114062 HGNC:12496 WASF1 gene WASF1 Expert Review Green;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ID associated with autistic features, seizures, and developmental delay;intellectual disability 29961568 False 3 100;0;0 1.158 False ENSG00000112290 ENSG00000112290 HGNC:12732 WDR45 gene WDR45 Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Saitsu et al (2013) Nat Genet. 45(4):445-9 False 3 100;0;0 1.158 True ENSG00000196998 ENSG00000196998 HGNC:28912 WDR45B gene WDR45B Expert Review Green;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations 21937992; 28503735 False 3 100;0;0 1.158 False ENSG00000141580 ENSG00000141580 HGNC:25072 WWOX gene WWOX Expert Review;Expert Review Green Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Tabarki (2015) Ben-Salam (2015) Mignot (2015) False 3 100;0;0 1.158 True ENSG00000186153 ENSG00000186153 HGNC:12799 YWHAG gene YWHAG Expert Review;Expert Review Green;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile 56, 617665;Seizures, multiple types 28777935;25363760;26297819;27288018 False 3 0;100;0 1.158 False ENSG00000170027 ENSG00000170027 HGNC:12852 ZEB2 gene ZEB2 Expert Review Green;UKGTN Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mowat-Wilson syndrome Dastot-Le Moal et al (2007) Hum Mut 28(4): 313-321 False 3 100;0;0 1.158 True ENSG00000169554 ENSG00000169554 HGNC:14881 ATP6AP2 gene ATP6AP2 Expert Review Amber;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Mental retardation, X-linked, syndromic, Hedera type 300423" 26467484;15746149 False 2 0;100;0 1.158 False ENSG00000182220 ENSG00000182220 HGNC:18305 HAX1 gene HAX1 Expert Review Amber;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital 3, autosomal recessive, 610738 18611981 False 2 0;100;0 1.158 False ENSG00000143575 ENSG00000143575 HGNC:16915 TSC1 gene TSC1 Expert Review Amber;Literature Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Focal cortical dysplasia, type II, somatic 607341 28215400;19175396;16114042;12112044 False 2 0;0;0 1.158 False Other - please provide details in the comments ENSG00000165699 ENSG00000165699 HGNC:12362 ATN1_CAG str ATN1 Expert Review Green;NHS GMS;Expert Review Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubro-pallidoluysian atrophy 125370 False 3 0;0;0 1.158 True ENSG00000111676 ENSG00000111676 HGNC:3033 12 7045880 7045936 6936717 6936772 CAG 36 48 CSTB_CCCCGCCCCGCG str CSTB Expert Review Green;NHS GMS;Expert Review Epileptic encephalopathy Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 False 3 100;0;0 1.158 True ENSG00000160213 ENSG00000160213 HGNC:2482 21 45196328 45196351 43776429 43776470 CCCCGCCCCGCG 18 30