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 ADCY5 gene ADCY5 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskinesia with orofacial involvement MIM#606703 Seizure;HP:0001250 (PMID: 36003298;33564903;27061943) False 1 0;50;50 1.108 True ENSG00000173175 ENSG00000173175 HGNC:236 ADRA2B gene ADRA2B Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Red;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders Unknown Cortical myoclonus and epilepsy Seizure;HP:0001250 31664034;24114805;21937992 False 1 0;0;100 1.108 True ENSG00000222040 ENSG00000274286 HGNC:282 AFDN gene AFDN Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders Unknown Epilepsy, MONDO:0015653 Seizure;HP:0001250 (PMID: 31690835;9679199) False 1 0;0;100 1.108 True ENSG00000130396 ENSG00000130396 HGNC:7137 AFG3L2 gene AFG3L2 Expert list;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive MIM#614487;Spinocerebellar ataxia 28 MIM#610246 Seizure;HP:0001250 25401298;22022284;25927548 False 1 0;100;0 1.108 True ENSG00000141385 ENSG00000141385 HGNC:315 AGO3 gene AGO3 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Red;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability Seizure;HP:0001250 25271087 False 1 0;0;100 1.108 True ENSG00000126070 ENSG00000126070 HGNC:18421 ALG10 gene ALG10 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, ALG10-related Seizure;HP:0001250 33798445 False 1 0;0;100 1.108 True ENSG00000139133 ENSG00000139133 HGNC:23162 ALG12 gene ALG12 Expert Review Red;Literature;NHS GMS Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig;OMIM: 607144 Seizure;HP:0001250 (PMID: 33618527) False 1 0;0;100 1.108 True ENSG00000182858 ENSG00000182858 HGNC:19358 ALG2 gene ALG2 Expert Review Red;Literature;NHS GMS Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228;Congenital disorder of glycosylation, type Ii, MIM# 607906 Seizure;HP:0001250 (PMID:12684507;28733338;28007376) False 1 0;0;100 1.108 True ENSG00000119523 ENSG00000119523 HGNC:23159 ALX4 gene ALX4 Expert Review;Expert Review Green;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Parietal foramina 2, MIM# 609597" Seizure;HP:0001250 33269135 False 1 50;0;50 1.108 True ENSG00000052850 ENSG00000052850 HGNC:450 ATP5G3 gene ATP5G3 Expert list;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia, early-onset, and/or spastic paraplegia MIM#619681 Seizure;HP:0001250 PMIDS: 34636445, 34954817 False 1 0;0;100 1.108 True ENSG00000154518 ENSG00000154518 HGNC:843 AUTS2 gene AUTS2 Expert list;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder, autosomal dominant 26 MIM#615834" Seizure;HP:0001250 PMID: 34573342, PMID: 33346930, PMID: 27075013, PMID: 23332918, PMID: 12160723 False 1 0;0;100 1.108 True ENSG00000158321 ENSG00000158321 HGNC:14262 BCL11A gene BCL11A Expert Review;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Dias-Logan syndrome, MIM# 617101" Seizure;HP:0001250 27453576;32903878 False 1 0;0;100 1.108 True ENSG00000119866 ENSG00000119866 HGNC:13221 BET1 gene BET1 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with rapid progression, MIM# 254100 Seizure;HP:0001250 34779586 False 1 0;50;50 1.108 True ENSG00000105829 ENSG00000105829 HGNC:14562 C19orf12 gene C19orf12 Expert list;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Neurodegeneration with brain iron accumulation 4 MIM#614298" Seizure;HP:0001250 False 1 0;0;100 1.108 True ENSG00000131943 ENSG00000131943 HGNC:25443 CAMLG gene CAMLG Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type IIz, OMIM #: 620201 Seizure;HP:0001250 35262690 False 1 0;0;100 1.108 True ENSG00000164615 ENSG00000164615 HGNC:1471 CAMTA1 gene CAMTA1 Expert list;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebellar dysfunction with variable cognitive and behavioral abnormalities MIM#614756 Seizure;HP:0001250 PMID: 31957018 False 1 0;0;100 1.108 True ENSG00000171735 ENSG00000171735 HGNC:18806 CCDC186 gene CCDC186 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy Seizure;HP:0001250 33259146 False 1 0;0;100 1.108 True ENSG00000165813 ENSG00000165813 HGNC:24349 CCDC22 gene CCDC22 Expert list;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ritscher-Schinzel syndrome 2 MIM#300963 Seizure;HP:0001250 PMID: 34020006 False 1 0;0;100 1.108 True ENSG00000101997 ENSG00000101997 HGNC:28909 CCM2 gene CCM2 Expert Review;Expert Review Green;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral cavernous malformations-2, MIM#603284 Seizure;HP:0001250 32702807 False 1 50;0;50 1.108 True ENSG00000136280 ENSG00000136280 HGNC:21708 CCND2 gene CCND2 Expert list;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938 Seizure;HP:0001250 PMID: 24705253 False 1 0;0;100 1.108 True ENSG00000118971 ENSG00000118971 HGNC:1583 CENPF gene CENPF Expert list;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Stromme syndrome MIM#243605" Seizure;HP:0001250 35488810 False 1 0;0;100 1.108 True ENSG00000117724 ENSG00000117724 HGNC:1857 CHRM1 gene CHRM1 Expert Review;Expert Review Amber;Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder;intellectual disability;autism;epilepsy Seizure;HP:0001250 34212451;31981491;12483218 False 1 0;50;50 1.108 True ENSG00000168539 ENSG00000168539 HGNC:1950 CHRNA7 gene CHRNA7 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal intellectual disability;seizures;hypotonia Seizure;HP:0001250 20979196;21596161;21290787 False 1 0;0;100 1.108 True ENSG00000175344 ENSG00000175344 HGNC:1960 CLASP1 gene CLASP1 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, CLASP1-related Seizure;HP:0001250 39040917 False 1 0;0;100 1.108 True ENSG00000074054 ENSG00000074054 HGNC:17088 CLCN2 gene CLCN2 Expert Review;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628;{Epilepsy, juvenile absence, susceptibility to, 2}, 607628;{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 Seizure;HP:0001250 23707145;19191339;20037607;19710712;36374051 False 1 0;0;100 1.108 True ENSG00000114859 ENSG00000114859 HGNC:2020 CPA6 gene CPA6 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Red;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, familial temporal lobe, 5, MIM#614417;Febrile seizures, familial, 11, MIM#614418 Seizure;HP:0001250 25875328;21922598;23105115 False 1 0;50;50 1.108 True ENSG00000165078 ENSG00000165078 HGNC:17245 CSNK1E gene CSNK1E Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related Seizure;HP:0001250 30488659 False 1 0;0;100 1.108 True ENSG00000213923 ENSG00000213923 HGNC:2453 DAB1 gene DAB1 Expert list;Expert Review Red;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal epilepsy;developmental delay;cerebellar ataxia;structural brain abnormalities;oral motor difficulty Seizure;HP:0001250 PMID: 33928188 False 1 33;0;67 1.108 True ENSG00000173406 ENSG00000173406 HGNC:2661 DAG1 gene DAG1 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818;Walker-Warburg syndrome and tectocerebellar dysgraphia Seizure;HP:0001250 PMID: 24052401;25934851;30450679 False 1 0;0;100 1.108 True ENSG00000173402 ENSG00000173402 HGNC:2666 DNAH14 gene DNAH14 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), DNAH14-related Seizure;HP:0001250 PMID: 35438214 False 1 50;0;50 1.108 True ENSG00000185842 ENSG00000185842 HGNC:2945 EED gene EED Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cohen-Gibson syndrome, MIM# 617561 Seizure;HP:0001250 PMID: 34533271 False 1 0;0;100 1.108 True ENSG00000074266 ENSG00000074266 HGNC:3188 EFHC1 gene EFHC1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Red;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Epilepsy, juvenile absence, susceptibility to, 1}, 607631;{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 Seizure;HP:0001250 31056551;28370826;29750216;33969125;33181902 False 1 0;50;50 1.108 True ENSG00000096093 ENSG00000096093 HGNC:16406 EXOSC8 gene EXOSC8 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, MIM#616081 Seizure;HP:0001250 24989451;29656927;34210538 False 1 0;0;100 1.108 True ENSG00000120699 ENSG00000120699 HGNC:17035 FIG4 gene FIG4 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Red;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, bilateral temporooccipital, MIM#612691 Seizure;HP:0001250 24598713 False 1 0;0;100 1.108 True ENSG00000112367 ENSG00000112367 HGNC:16873 GABBR1 gene GABBR1 Expert Review Green;Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502 Seizure;HP:0001250 PMID:36103875 False 1 50;0;50 1.108 True ENSG00000204681 ENSG00000204681 HGNC:4070 GABRA6 gene GABRA6 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted BFIE;CAE Seizure;HP:0001250 PMID: 21930603;29215089;19429026 False 1 0;0;100 1.108 True ENSG00000145863 ENSG00000145863 HGNC:4080 GABRG1 gene GABRG1 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted developmental and epileptic encephalopathy MONDO:0100062 Seizure;HP:0001250 PMID: 36121006 False 1 0;0;100 1.108 True ENSG00000163285 ENSG00000163285 HGNC:4086 GRIA1 gene GRIA1 Expert list;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal dominant 67, MIM# 619927;Intellectual developmental disorder, autosomal recessive 76, MIM# 619931 Seizure;HP:0001250 35675825 False 1 0;0;100 1.108 True ENSG00000155511 ENSG00000155511 HGNC:4571 GUF1 gene GUF1 Expert list;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 40, MIM# 617065" Seizure;HP:0001250 26486472 False 1 0;0;100 1.108 True ENSG00000151806 ENSG00000151806 HGNC:25799 HCN4 gene HCN4 Expert list;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Epilepsy, idiopathic generalized, susceptibility to, 18}, MIM# 619521" Seizure;HP:0001250 30127718;29588962 False 1 0;0;100 1.108 True ENSG00000138622 ENSG00000138622 HGNC:16882 IARS2 gene IARS2 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia MIM#616007" Seizure;HP:0001250 PMID: 30041933 False 1 0;0;100 1.108 True ENSG00000067704 ENSG00000067704 HGNC:29685 IBA57 gene IBA57 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 3 MIM#615330 Seizure;HP:0001250 PMID: 30258207 False 1 0;0;100 1.108 True ENSG00000181873 ENSG00000181873 HGNC:27302 IDH1 gene IDH1 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders Other Ollier disease MONDO:0008145;Maffucci syndromeMONDO:0013808 Seizure;HP:0001250 False 1 0;0;100 1.108 True ENSG00000138413 ENSG00000138413 HGNC:5382 INTS8 gene INTS8 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity MIM#618572 Seizure;HP:0001250 False 1 0;0;100 1.108 True ENSG00000164941 ENSG00000164941 HGNC:26048 ITGB4 gene ITGB4 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epidermolysis bullosa, junctional 5A, intermediate MIM#619816;Epidermolysis bullosa, junctional 5B, with pyloric atresia MIM#226730" Seizure;HP:0001250 False 1 0;0;100 1.108 True ENSG00000132470 ENSG00000132470 HGNC:6158 JARID2 gene JARID2 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay with variable intellectual disability and dysmorphic facies MIM#620098 Seizure;HP:0001250 PMID: 22480366 False 1 0;0;100 1.108 True ENSG00000008083 ENSG00000008083 HGNC:6196 KCNAB3 gene KCNAB3 Expert list;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO#0700092), KCNAB3-related Seizure;HP:0001250 37396552;32990398;36345448 False 1 0;0;100 1.108 True ENSG00000170049 ENSG00000170049 HGNC:6230 KCNIP4 gene KCNIP4 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders Unknown seizures;epilepsy Seizure;HP:0001250 33826137 False 1 0;0;100 1.108 True ENSG00000185774 ENSG00000185774 HGNC:30083 KCNN3 gene KCNN3 Expert list;Expert Review Green;Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Zimmermann-Laband syndrome 3 MIM#618658 Seizure;HP:0001250 PMID: 33594261;31155282;34907639 False 1 33;0;67 1.108 True ENSG00000143603 ENSG00000143603 HGNC:6292 KCTD13 gene KCTD13 Expert list;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), KCTD13-related Seizure;HP:0001250 PMID: 33409479 False 1 0;0;100 1.108 True ENSG00000174943 ENSG00000174943 HGNC:22234 KDM5A gene KDM5A Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, KDM5A-related Seizure;HP:0001250 PMID: 34210021 False 1 0;0;100 1.108 True ENSG00000073614 ENSG00000073614 HGNC:9886 KDM6A gene KDM6A Expert Review Red;Literature Genetic Epilepsy 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) "Kabuki syndrome 2 MIM#300867" Seizure;HP:0001250 PMID: 28442529 False 1 0;0;100 1.108 True ENSG00000147050 ENSG00000147050 HGNC:12637 KIF1BP gene KIF1BP Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Red;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Goldberg-Shprintzen megacolon syndrome, MIM# 609460 Seizure;HP:0001250 28277559 False 1 0;50;50 1.108 True ENSG00000198954 ENSG00000198954 HGNC:23419 KMT2B gene KMT2B Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Dystonia 28, childhood-onset MIM#617284;Intellectual developmental disorder, autosomal dominant 68 MIM#619934" Seizure;HP:0001250 PMID: 34477219;37309110 False 1 0;0;100 1.108 True ENSG00000272333 ENSG00000272333 HGNC:15840 KPNA7 gene KPNA7 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), KPNA7-related Seizure;HP:0001250 24045845;32179771 False 1 0;0;100 1.108 True ENSG00000185467 ENSG00000185467 HGNC:21839 LMX1B gene LMX1B Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Focal segmental glomerulosclerosis 10 MIM#256020;Nail-patella syndrome MIM#161200" Seizure;HP:0001250 False 1 0;0;100 1.108 True ENSG00000136944 ENSG00000136944 HGNC:6654 MAGI2 gene MAGI2 Expert list;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Monogenic epilepsy, MONDO:0015653, MAGI2-related Seizure;HP:0001250 26030165;25497044;31056551 False 1 0;0;100 1.108 True ENSG00000187391 ENSG00000187391 HGNC:18957 MCM3AP gene MCM3AP Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM#618124) Seizure;HP:0001250 32202298 False 1 0;0;100 1.108 True ENSG00000160294 ENSG00000160294 HGNC:6946 MMS19 gene MMS19 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegenerative disease, MONDO:0005559, MMS19-related Seizure;HP:0001250 38411040 False 1 0;0;100 1.108 True ENSG00000155229 ENSG00000155229 HGNC:13824 NAT8L gene NAT8L Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal N-acetylaspartate deficiency - MIM#614063 Seizure;HP:0001250 11310630;19807691;32275776 False 1 0;33;67 1.108 True ENSG00000185818 ENSG00000185818 HGNC:26742 NDP gene NDP Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Red;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Norrie disease, MIM#310600 Seizure;HP:0001250 17334993 False 1 50;0;50 1.108 True ENSG00000124479 ENSG00000124479 HGNC:7678 NDUFA10 gene NDUFA10 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Red;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243 Seizure;HP:0001250 21150889;26741492;28247337 False 1 50;0;50 1.108 True ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA11 gene NDUFA11 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Red;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Seizure;HP:0001250 18306244;31074871 False 1 0;0;100 1.108 True ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA6 gene NDUFA6 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Red;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 33, MIM#618253 Seizure;HP:0001250 30245030 False 1 0;0;100 1.108 True ENSG00000184983 ENSG00000184983 HGNC:7690 OCRL gene OCRL Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lowe syndrome MIM#309000 Seizure;HP:0001250 35919034 False 1 0;0;100 1.108 True ENSG00000122126 ENSG00000122126 HGNC:8108 ODC1 gene ODC1 Expert Review Green;Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Bachmann-Bupp syndrome 619075" Seizure;HP:0001250 30475435;30239107;34477286 False 1 0;0;100 1.108 True ENSG00000115758 ENSG00000115758 HGNC:8109 OGT gene OGT Expert Review Green;Expert Review Red;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Intellectual developmental disorder, X-linked 106 MIM#300997" Seizure;HP:0001250 PMID: 28302723;28584052;31296563;31627256;29769320;29606577;29769320;37334838 False 1 33;0;67 1.108 True ENSG00000147162 ENSG00000147162 HGNC:8127 OSTC gene OSTC Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Oligosaccharyltransferase complex-congenital disorders of glycosylation Seizure;HP:0001250 PMID: 32267060 False 1 0;0;100 1.108 True ENSG00000198856 ENSG00000198856 HGNC:24448 PANK2 gene PANK2 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 1 MIM#234200 Seizure;HP:0001250 27303611;18462962 False 1 0;0;100 1.108 True ENSG00000125779 ENSG00000125779 HGNC:15894 PCLO gene PCLO Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 3, MIM#608027 Seizure;HP:0001250 25832664;32122952 False 1 0;0;100 1.108 True ENSG00000186472 ENSG00000186472 HGNC:13406 PIGF gene PIGF Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM#619356 Seizure;HP:0001250 33386993 False 1 0;0;100 1.108 True ENSG00000151665 ENSG00000151665 HGNC:8962 PLXNC1 gene PLXNC1 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Malformations of cortical development Seizure;HP:0001250 PMID: 36808730 False 1 0;0;100 1.108 True ENSG00000136040 ENSG00000136040 HGNC:9106 PRDM8 gene PRDM8 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Epilepsy, progressive myoclonic, 10 MIM#616640 Seizure;HP:0001250 PMID: 2296154;35034233 False 1 0;0;100 1.108 True ENSG00000152784 ENSG00000152784 HGNC:13993 PRICKLE1 gene PRICKLE1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Red;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1B, MIM# 612437 Seizure;HP:0001250 34597683;30564977;30345727;29790814;26727662;31035234;18976727;30564977 False 1 0;50;50 1.108 True ENSG00000139174 ENSG00000139174 HGNC:17019 PRIMA1 gene PRIMA1 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Frontal Lobe Epilepsy MONDO:0002612 Seizure;HP:0001250 PMID: 26339676 False 1 0;0;100 1.108 True ENSG00000175785 ENSG00000175785 HGNC:18319 PTBP1 gene PTBP1 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders Unknown Seizure;HP:0001250 False 1 0;0;100 1.108 True ENSG00000011304 ENSG00000011304 HGNC:9583 PTCH1 gene PTCH1 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 7, MIM# 610828 Seizure;HP:0001250 11941477;17001668;29575684;36171624 False 1 0;0;100 1.108 True ENSG00000185920 ENSG00000185920 HGNC:9585 RAB11A gene RAB11A Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;seizures Seizure;HP:0001250 29100083 False 1 0;0;100 1.108 True ENSG00000103769 ENSG00000103769 HGNC:9760 SCN10A gene SCN10A Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Episodic pain syndrome, familial, 2 MIM#615551;Neurodevelopmental disorder (MONDO#0700092), SCN10A-related" Seizure;HP:0001250 PMID: 28078312 False 1 0;0;100 1.108 True ENSG00000185313 ENSG00000185313 HGNC:10582 SCN9A gene SCN9A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Red;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Dravet syndrome, modifier of} MIM#607208;Epilepsy, generalized, with febrile seizures plus, type 7 MIM#613863;Febrile seizures, familial, 3B MIM#613863 Seizure;HP:0001250 19763161;29500686;30834459;23895530;33216760 False 1 0;50;50 1.108 True ENSG00000169432 ENSG00000169432 HGNC:10597 SLC22A5 gene SLC22A5 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intractable epilepsy Seizure;HP:0001250 PMID: 33005244 False 1 50;0;50 1.108 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLC4A4 gene SLC4A4 Expert Review;Expert Review Red Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278" Seizure;HP:0001250 33439394 False 1 0;0;100 1.108 True ENSG00000080493 ENSG00000080493 HGNC:11030 SLC7A6OS gene SLC7A6OS Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic, 12, MIM# 619191;Progressive myoclonus epilepsy Seizure;HP:0001250 33085104 False 1 0;0;100 1.108 True ENSG00000103061 ENSG00000103061 HGNC:25807 SMARCA4 gene SMARCA4 Expert Review Green;Expert Review Red;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Refractory seizures Seizure;HP:0001250 33333793 False 1 50;0;50 1.108 True ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCE1 gene SMARCE1 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coffin-Siris syndrome 5 MIM#616938 Seizure;HP:0001250 PMID: 30548424 False 1 0;0;100 1.108 True ENSG00000073584 ENSG00000073584 HGNC:11109 SOX11 gene SOX11 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism MIM#615866 Seizure;HP:0001250 False 1 0;0;100 1.108 True ENSG00000176887 ENSG00000176887 HGNC:11191 STAT3 gene STAT3 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders Unknown Seizure;HP:0001250 36935347 False 1 0;0;100 1.108 True ENSG00000168610 ENSG00000168610 HGNC:11364 SUMF1 gene SUMF1 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency MIM#272200 Seizure;HP:0001250 36980153;36959582 False 1 0;0;100 1.108 True ENSG00000144455 ENSG00000144455 HGNC:20376 SV2B gene SV2B Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders Unknown seizures Seizure;HP:0001250 23617838;23937191 False 1 0;0;100 1.108 True ENSG00000185518 ENSG00000185518 HGNC:16874 SYNE1 gene SYNE1 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092 Seizure;HP:0001250 PMID: 31703138;37096302;30573412 False 1 0;0;100 1.108 True ENSG00000131018 ENSG00000131018 HGNC:17089 TAF1C gene TAF1C Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), TAF1C-related Seizure;HP:0001250 32779182 False 1 0;0;100 1.108 True ENSG00000103168 ENSG00000103168 HGNC:11534 TAOK1 gene TAOK1 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay with or without intellectual impairment or behavioral abnormalities MIM#619575 Seizure;HP:0001250 False 1 0;0;100 1.108 True ENSG00000160551 ENSG00000160551 HGNC:29259 TBC1D7 gene TBC1D7 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Macrocephaly/megalencephaly syndrome, autosomal recessive MIM#248000 Seizure;HP:0001250 23687350;24515783 False 1 0;0;100 1.108 True ENSG00000145979 ENSG00000145979 HGNC:21066 TGIF1 gene TGIF1 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 4 MIM#142946 Seizure;HP:0001250 False 1 0;0;100 1.108 True ENSG00000177426 ENSG00000177426 HGNC:11776 TMEM5 gene TMEM5 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 MIM#615041 Seizure;HP:0001250 False 1 0;0;100 1.108 True ENSG00000118600 ENSG00000118600 HGNC:13530 TNRC6A gene TNRC6A Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial adult myoclonic, 6 MIM#618074 Seizure;HP:0001250 PMID: 29507423;33040085 False 1 0;0;100 1.108 True ENSG00000090905 ENSG00000090905 HGNC:11969 TRAPPC2L gene TRAPPC2L Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 Seizure;HP:0001250 30120216;32843486;36849228 False 1 0;33;67 1.108 True ENSG00000167515 ENSG00000167515 HGNC:30887 TRPC3 gene TRPC3 Expert list;Expert Review Amber;Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Spinocerebellar ataxia 41 - 616410 Seizure;HP:0001250 32135163;25477146 False 1 0;50;50 1.108 True ENSG00000138741 ENSG00000138741 HGNC:12335 TSEN34 gene TSEN34 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2C, MIM#612390 Seizure;HP:0001250 False 1 0;0;100 1.108 True ENSG00000170892 ENSG00000170892 HGNC:15506 TUBA8 gene TUBA8 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Red;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 8, MIM#613180 Seizure;HP:0001250 31481326;19896110;28388629 False 1 0;0;100 1.108 True ENSG00000183785 ENSG00000183785 HGNC:12410 UGGT1 gene UGGT1 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders Unknown Seizure;HP:0001250 False 1 0;0;100 1.108 True ENSG00000136731 ENSG00000136731 HGNC:15663 UNC13B gene UNC13B Expert list;Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy Seizure;HP:0001250 33876820 False 1 0;0;100 1.108 True ENSG00000198722 ENSG00000198722 HGNC:12566 WASHC4 gene WASHC4 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Intellectual developmental disorder, autosomal recessive 43 MIM#615817" Seizure;HP:0001250 PMID: 34599609 False 1 0;0;100 1.108 True ENSG00000136051 ENSG00000136051 HGNC:29174 WDFY3 gene WDFY3 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microcephaly 18, primary, autosomal dominant MIM#617520 Seizure;HP:0001250 PMID: 31327001 False 1 0;0;100 1.108 True ENSG00000163625 ENSG00000163625 HGNC:20751 YEATS2 gene YEATS2 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Epilepsy, myoclonic, familial adult, 4 MIM#615127 Seizure;HP:0001250 PMID: 22713812;31539032 False 1 0;0;100 1.108 True ENSG00000163872 ENSG00000163872 HGNC:25489 ZDHHC15 gene ZDHHC15 Expert list;Expert Review Red;Literature;Victorian Clinical Genetics Services Genetic Epilepsy 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) Intellectual disability, X-linked 91, 300577 Seizure;HP:0001250 34345675;15915161;26290131;32989326 False 1 0;0;100 1.108 True ENSG00000102383 ENSG00000102383 HGNC:20342 ZIC2 gene ZIC2 Expert Review Red;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 5 MIM#609637 Seizure;HP:0001250 False 1 0;0;100 1.108 True ENSG00000043355 ENSG00000043355 HGNC:12873