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;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000090861 ENSG00000090861 HGNC:20 AARS2 gene AARS2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000124608 ENSG00000124608 HGNC:21022 ABAT gene ABAT Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000183044 ENSG00000183044 HGNC:23 ACOX1 gene ACOX1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000161533 ENSG00000161533 HGNC:119 ADAR gene ADAR Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000160710 ENSG00000160710 HGNC:225 ADGRG1 gene ADGRG1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000205336 ENSG00000205336 HGNC:4512 ADSL gene ADSL Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000239900 ENSG00000239900 HGNC:291 AIMP1 gene AIMP1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000164022 ENSG00000164022 HGNC:10648 AKT1 gene AKT1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000142208 ENSG00000142208 HGNC:391 AKT3 gene AKT3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000117020 ENSG00000117020 HGNC:393 ALDH5A1 gene ALDH5A1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000112294 ENSG00000112294 HGNC:408 ALDH7A1 gene ALDH7A1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000164904 ENSG00000164904 HGNC:877 ALG1 gene ALG1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000033011 ENSG00000033011 HGNC:18294 ALG11 gene ALG11 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000253710 ENSG00000253710 HGNC:32456 ALG12 gene ALG12 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG13 gene ALG13 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000101901 ENSG00000101901 HGNC:30881 ALG2 gene ALG2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000119523 ENSG00000119523 HGNC:23159 ALG3 gene ALG3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000086848 ENSG00000086848 HGNC:15672 ALPL gene ALPL Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000162551 ENSG00000162551 HGNC:438 AMPD2 gene AMPD2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000116337 ENSG00000116337 HGNC:469 AMT gene AMT Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000145020 ENSG00000145020 HGNC:473 AP3B2 gene AP3B2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000103723 ENSG00000103723 HGNC:567 ARFGEF2 gene ARFGEF2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000124198 ENSG00000124198 HGNC:15853 ARHGEF9 gene ARHGEF9 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000131089 ENSG00000131089 HGNC:14561 ARID1B gene ARID1B Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000049618 ENSG00000049618 HGNC:18040 ARV1 gene ARV1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000173409 ENSG00000173409 HGNC:29561 ARX gene ARX Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000004848 ENSG00000004848 HGNC:18060 ASPA gene ASPA Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000108381 ENSG00000108381 HGNC:756 ATP1A3 gene ATP1A3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP5A1 gene ATP5A1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000152234 ENSG00000152234 HGNC:823 ATP6AP2 gene ATP6AP2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000182220 ENSG00000182220 HGNC:18305 ATP7A gene ATP7A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000165240 ENSG00000165240 HGNC:869 ATRX gene ATRX Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000085224 ENSG00000085224 HGNC:886 BCKDHA gene BCKDHA Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000083123 ENSG00000083123 HGNC:987 BCS1L gene BCS1L Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000074582 ENSG00000074582 HGNC:1020 BOLA3 gene BOLA3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000163170 ENSG00000163170 HGNC:24415 BRAF gene BRAF Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000157764 ENSG00000157764 HGNC:1097 BRAT1 gene BRAT1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000106009 ENSG00000106009 HGNC:21701 BTD gene BTD Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000169814 ENSG00000169814 HGNC:1122 C12orf57 gene C12orf57 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000111678 ENSG00000111678 HGNC:29521 CACNA1A gene CACNA1A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA2D2 gene CACNA2D2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000007402 ENSG00000007402 HGNC:1400 CASK gene CASK Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000147044 ENSG00000147044 HGNC:1497 CC2D2A gene CC2D2A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC88A gene CCDC88A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000115355 ENSG00000115355 HGNC:25523 CCND2 gene CCND2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000118971 ENSG00000118971 HGNC:1583 CDKL5 gene CDKL5 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000008086 ENSG00000008086 HGNC:11411 CHD2 gene CHD2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000173575 ENSG00000173575 HGNC:1917 CHRNA2 gene CHRNA2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000120903 ENSG00000120903 HGNC:1956 CHRNA4 gene CHRNA4 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000101204 ENSG00000101204 HGNC:1958 CHRNB2 gene CHRNB2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000160716 ENSG00000160716 HGNC:1962 CLCN4 gene CLCN4 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000073464 ENSG00000073464 HGNC:2022 CLN3 gene CLN3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000188603 ENSG00000188603 HGNC:2074 CNKSR2 gene CNKSR2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000149970 ENSG00000149970 HGNC:19701 CNPY3 gene CNPY3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000137161 ENSG00000137161 HGNC:11968 CNTNAP2 gene CNTNAP2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000174469 ENSG00000174469 HGNC:13830 COG4 gene COG4 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000103051 ENSG00000103051 HGNC:18620 COG6 gene COG6 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000133103 ENSG00000133103 HGNC:18621 COG7 gene COG7 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000168434 ENSG00000168434 HGNC:18622 COG8 gene COG8 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000213380 ENSG00000213380 HGNC:18623 COL18A1 gene COL18A1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000182871 ENSG00000182871 HGNC:2195 COL4A1 gene COL4A1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000134871 ENSG00000134871 HGNC:2203 COQ2 gene COQ2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ6 gene COQ6 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ9 gene COQ9 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX10 gene COX10 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000014919 ENSG00000014919 HGNC:2263 CSNK2B gene CSNK2B Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000204435 ENSG00000204435 HGNC:2460 CSTB gene CSTB Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000160213 ENSG00000160213 HGNC:2482 CTSD gene CTSD Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000117984 ENSG00000117984 HGNC:2529 D2HGDH gene D2HGDH Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000180902 ENSG00000180902 HGNC:28358 DBT gene DBT Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000137992 ENSG00000137992 HGNC:2698 DCX gene DCX Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000077279 ENSG00000077279 HGNC:2714 DDX3X gene DDX3X Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000215301 ENSG00000215301 HGNC:2745 DENND5A gene DENND5A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000184014 ENSG00000184014 HGNC:19344 DEPDC5 gene DEPDC5 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000100150 ENSG00000100150 HGNC:18423 DHCR24 gene DHCR24 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000116133 ENSG00000116133 HGNC:2859 DNAJC6 gene DNAJC6 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000116675 ENSG00000116675 HGNC:15469 DNM1 gene DNM1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000106976 ENSG00000106976 HGNC:2972 DNM1L gene DNM1L Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000087470 ENSG00000087470 HGNC:2973 DOCK7 gene DOCK7 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000116641 ENSG00000116641 HGNC:19190 DOLK gene DOLK Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000175283 ENSG00000175283 HGNC:23406 DPAGT1 gene DPAGT1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000172269 ENSG00000172269 HGNC:2995 DPM1 gene DPM1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM2 gene DPM2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000136908 ENSG00000136908 HGNC:3006 DYNC1H1 gene DYNC1H1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000197102 ENSG00000197102 HGNC:2961 DYRK1A gene DYRK1A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000157540 ENSG00000157540 HGNC:3091 EARS2 gene EARS2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000103356 ENSG00000103356 HGNC:29419 EEF1A2 gene EEF1A2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000101210 ENSG00000101210 HGNC:3192 EHMT1 gene EHMT1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000181090 ENSG00000181090 HGNC:24650 EIF2B1 gene EIF2B1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000145191 ENSG00000145191 HGNC:3261 EIF2S3 gene EIF2S3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000130741 ENSG00000130741 HGNC:3267 EMX2 gene EMX2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000170370 ENSG00000170370 HGNC:3341 EPG5 gene EPG5 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000152223 ENSG00000152223 HGNC:29331 EPM2A gene EPM2A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000112425 ENSG00000112425 HGNC:3413 ETHE1 gene ETHE1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000105755 ENSG00000105755 HGNC:23287 EXOSC3 gene EXOSC3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000107371 ENSG00000107371 HGNC:17944 FARS2 gene FARS2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000145982 ENSG00000145982 HGNC:21062 FASTKD2 gene FASTKD2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000118246 ENSG00000118246 HGNC:29160 FBXL4 gene FBXL4 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000112234 ENSG00000112234 HGNC:13601 FGF12 gene FGF12 Expert Review Green;Victorian Clinical Genetics Services Epileptic 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Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000110195 ENSG00000110195 HGNC:3791 FOXG1 gene FOXG1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000176165 ENSG00000176165 HGNC:3811 FOXRED1 gene FOXRED1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000110074 ENSG00000110074 HGNC:26927 FRRS1L gene FRRS1L Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000260230 ENSG00000260230 HGNC:1362 FUCA1 gene FUCA1 Expert Review Green;Victorian Clinical 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False ENSG00000166206 ENSG00000166206 HGNC:4083 GABRG2 gene GABRG2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000113327 ENSG00000113327 HGNC:4087 GALC gene GALC Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000054983 ENSG00000054983 HGNC:4115 GAMT gene GAMT Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000130005 ENSG00000130005 HGNC:4136 GBA gene GBA Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000177628 ENSG00000177628 HGNC:4177 GCH1 gene GCH1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000131979 ENSG00000131979 HGNC:4193 GCSH gene GCSH Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000140905 ENSG00000140905 HGNC:4208 GFAP gene GFAP Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000131095 ENSG00000131095 HGNC:4235 GFM1 gene GFM1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000168827 ENSG00000168827 HGNC:13780 GLB1 gene GLB1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLDC gene GLDC Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000178445 ENSG00000178445 HGNC:4313 GLI3 gene GLI3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000106571 ENSG00000106571 HGNC:4319 GLUD1 gene GLUD1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000148672 ENSG00000148672 HGNC:4335 GLUL gene GLUL Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000135821 ENSG00000135821 HGNC:4341 GM2A gene GM2A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000196743 ENSG00000196743 HGNC:4367 GNAO1 gene GNAO1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000087258 ENSG00000087258 HGNC:4389 GNAQ gene GNAQ Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000156052 ENSG00000156052 HGNC:4390 GNB1 gene GNB1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000078369 ENSG00000078369 HGNC:4396 GOSR2 gene GOSR2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000108433 ENSG00000108433 HGNC:4431 GPAA1 gene GPAA1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000197858 ENSG00000197858 HGNC:4446 GPHN gene GPHN Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000171723 ENSG00000171723 HGNC:15465 GRIN1 gene GRIN1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000176884 ENSG00000176884 HGNC:4584 GRIN2A gene GRIN2A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000183454 ENSG00000183454 HGNC:4585 GRIN2B gene GRIN2B Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000273079 ENSG00000273079 HGNC:4586 GRIN2D gene GRIN2D Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000105464 ENSG00000105464 HGNC:4588 GTPBP3 gene GTPBP3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000130299 ENSG00000130299 HGNC:14880 H3F3A gene H3F3A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000163041 ENSG00000163041 HGNC:4764 H3F3B gene H3F3B Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000132475 ENSG00000132475 HGNC:4765 HAX1 gene HAX1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000143575 ENSG00000143575 HGNC:16915 HCCS gene HCCS Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000004961 ENSG00000004961 HGNC:4837 HCFC1 gene HCFC1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000172534 ENSG00000172534 HGNC:4839 HCN1 gene HCN1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000164588 ENSG00000164588 HGNC:4845 HCN2 gene HCN2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000099822 ENSG00000099822 HGNC:4846 HECW2 gene HECW2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000138411 ENSG00000138411 HGNC:29853 HEPACAM gene HEPACAM Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000165478 ENSG00000165478 HGNC:26361 HEXA gene HEXA Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000049860 ENSG00000049860 HGNC:4879 HLCS gene HLCS Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000159267 ENSG00000159267 HGNC:4976 HNRNPU gene HNRNPU Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000153187 ENSG00000153187 HGNC:5048 HOXA1 gene HOXA1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000105991 ENSG00000105991 HGNC:5099 HPRT1 gene HPRT1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000165704 ENSG00000165704 HGNC:5157 HRAS gene HRAS Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000174775 ENSG00000174775 HGNC:5173 HSD17B4 gene HSD17B4 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000133835 ENSG00000133835 HGNC:5213 HSPD1 gene HSPD1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000144381 ENSG00000144381 HGNC:5261 HTRA2 gene HTRA2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000115317 ENSG00000115317 HGNC:14348 IER3IP1 gene IER3IP1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000134049 ENSG00000134049 HGNC:18550 IFIH1 gene IFIH1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000115267 ENSG00000115267 HGNC:18873 IKBKG gene IKBKG Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000073009 ENSG00000269335 HGNC:5961 IQSEC2 gene IQSEC2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000124313 ENSG00000124313 HGNC:29059 ISPD gene ISPD Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000214960 ENSG00000214960 HGNC:37276 ITPA gene ITPA Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000125877 ENSG00000125877 HGNC:6176 KAT5 gene KAT5 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000172977 ENSG00000172977 HGNC:5275 KCNA2 gene KCNA2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000177301 ENSG00000177301 HGNC:6220 KCNB1 gene KCNB1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000158445 ENSG00000158445 HGNC:6231 KCNC1 gene KCNC1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000129159 ENSG00000129159 HGNC:6233 KCNJ10 gene KCNJ10 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ11 gene KCNJ11 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000187486 ENSG00000187486 HGNC:6257 KCNMA1 gene KCNMA1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000156113 ENSG00000156113 HGNC:6284 KCNQ2 gene KCNQ2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000184156 ENSG00000184156 HGNC:6297 KCNQ5 gene KCNQ5 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000185760 ENSG00000185760 HGNC:6299 KCNT1 gene KCNT1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000107147 ENSG00000107147 HGNC:18865 KCTD3 gene KCTD3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000136636 ENSG00000136636 HGNC:21305 KCTD7 gene KCTD7 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000243335 ENSG00000243335 HGNC:21957 KIAA1109 gene KIAA1109 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000138688 ENSG00000138688 HGNC:26953 KIF1A gene KIF1A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000130294 ENSG00000130294 HGNC:888 KIF1BP gene KIF1BP Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000198954 ENSG00000198954 HGNC:23419 KIF2A gene KIF2A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000068796 ENSG00000068796 HGNC:6318 KIF5C gene KIF5C Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000168280 ENSG00000168280 HGNC:6325 KRAS gene KRAS Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000133703 ENSG00000133703 HGNC:6407 LARGE1 gene LARGE1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000133424 ENSG00000133424 HGNC:6511 LIAS gene LIAS Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000121897 ENSG00000121897 HGNC:16429 LIPT2 gene LIPT2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000175536 ENSG00000175536 HGNC:37216 MANBA gene MANBA Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000109323 ENSG00000109323 HGNC:6831 MAP2K1 gene MAP2K1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000126934 ENSG00000126934 HGNC:6842 MBD5 gene MBD5 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000204406 ENSG00000204406 HGNC:20444 MBOAT7 gene MBOAT7 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000125505 ENSG00000125505 HGNC:15505 MDH2 gene MDH2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000146701 ENSG00000146701 HGNC:6971 MECP2 gene MECP2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000169057 ENSG00000169057 HGNC:6990 MED12 gene MED12 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000184634 ENSG00000184634 HGNC:11957 MED17 gene MED17 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000042429 ENSG00000042429 HGNC:2375 MEF2C gene MEF2C Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000081189 ENSG00000081189 HGNC:6996 MLC1 gene MLC1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000100427 ENSG00000100427 HGNC:17082 MMACHC gene MMACHC Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000168288 ENSG00000168288 HGNC:25221 MOCS1 gene MOCS1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000164172 ENSG00000164172 HGNC:7193 MOGS gene MOGS Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000115275 ENSG00000115275 HGNC:24862 MPDU1 gene MPDU1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000129255 ENSG00000129255 HGNC:7207 MTHFR gene MTHFR Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000177000 ENSG00000177000 HGNC:7436 MTOR gene MTOR Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000198793 ENSG00000198793 HGNC:3942 MTR gene MTR Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000116984 ENSG00000116984 HGNC:7468 NACC1 gene NACC1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000160877 ENSG00000160877 HGNC:20967 NAGA gene NAGA Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000198951 ENSG00000198951 HGNC:7631 NARS2 gene NARS2 Expert Review Green;Victorian Clinical Genetics Services Epileptic 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HGNC:7683 NDUFA10 gene NDUFA10 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA11 gene NDUFA11 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA2 gene NDUFA2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFAF2 gene NDUFAF2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFAF5 gene NDUFAF5 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFS1 gene NDUFS1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS4 gene NDUFS4 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS6 gene NDUFS6 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000167792 ENSG00000167792 HGNC:7716 NECAP1 gene NECAP1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000089818 ENSG00000089818 HGNC:24539 NEDD4L gene NEDD4L Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000049759 ENSG00000049759 HGNC:7728 NEXMIF gene NEXMIF Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000050030 ENSG00000050030 HGNC:29433 NGLY1 gene NGLY1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000151092 ENSG00000151092 HGNC:17646 NHLRC1 gene NHLRC1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000187566 ENSG00000187566 HGNC:21576 NPRL2 gene NPRL2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000114388 ENSG00000114388 HGNC:24969 NPRL3 gene NPRL3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000103148 ENSG00000103148 HGNC:14124 NRAS gene NRAS Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000213281 ENSG00000213281 HGNC:7989 NRXN1 gene NRXN1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000179915 ENSG00000179915 HGNC:8008 NSD1 gene NSD1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000165671 ENSG00000165671 HGNC:14234 NSDHL gene NSDHL Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000147383 ENSG00000147383 HGNC:13398 NUBPL gene NUBPL Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000151413 ENSG00000151413 HGNC:20278 OCLN gene OCLN Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000197822 ENSG00000197822 HGNC:8104 OPHN1 gene OPHN1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000079482 ENSG00000079482 HGNC:8148 OTX2 gene OTX2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000165588 ENSG00000165588 HGNC:8522 PAFAH1B1 gene PAFAH1B1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000007168 ENSG00000007168 HGNC:8574 PAH gene PAH Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000171759 ENSG00000171759 HGNC:8582 PCCA gene PCCA Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000114054 ENSG00000114054 HGNC:8654 PCDH19 gene PCDH19 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000165194 ENSG00000165194 HGNC:14270 PCLO gene PCLO Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000186472 ENSG00000186472 HGNC:13406 PDHA1 gene PDHA1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHX gene PDHX Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDSS2 gene PDSS2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000164494 ENSG00000164494 HGNC:23041 PET100 gene PET100 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000229833 ENSG00000229833 HGNC:40038 PEX1 gene PEX1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX7 gene PEX7 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000112357 ENSG00000112357 HGNC:8860 PHGDH gene PHGDH Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000092621 ENSG00000092621 HGNC:8923 PIGA gene PIGA Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000165195 ENSG00000165195 HGNC:8957 PIGC gene PIGC Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000135845 ENSG00000135845 HGNC:8960 PIGN gene PIGN Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000197563 ENSG00000197563 HGNC:8967 PIGO gene PIGO Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000165282 ENSG00000165282 HGNC:23215 PIGT gene PIGT Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000124155 ENSG00000124155 HGNC:14938 PIGW gene PIGW Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000184886 ENSG00000277161 HGNC:23213 PIK3CA gene PIK3CA Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R2 gene PIK3R2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000105647 ENSG00000105647 HGNC:8980 PLAA gene PLAA Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000137055 ENSG00000137055 HGNC:9043 PLCB1 gene PLCB1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000182621 ENSG00000182621 HGNC:15917 PLPBP gene PLPBP Expert list;Expert Review Green Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal False 3 0;0;0 0.5 False ENSG00000147471 ENSG00000147471 HGNC:9457 PMM2 gene PMM2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000140650 ENSG00000140650 HGNC:9115 PNKP gene PNKP Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000039650 ENSG00000039650 HGNC:9154 PNPO gene PNPO Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000108439 ENSG00000108439 HGNC:30260 POLG gene POLG Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000140521 ENSG00000140521 HGNC:9179 POMGNT1 gene POMGNT1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMT1 gene POMT1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000009830 ENSG00000009830 HGNC:19743 PPP3CA gene PPP3CA Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000138814 ENSG00000138814 HGNC:9314 PPT1 gene PPT1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRICKLE1 gene PRICKLE1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000139174 ENSG00000139174 HGNC:17019 PRRT2 gene PRRT2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000167371 ENSG00000167371 HGNC:30500 PSAP gene PSAP Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSAT1 gene PSAT1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSPH gene PSPH Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000146733 ENSG00000146733 HGNC:9577 PTEN gene PTEN Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTF1A gene PTF1A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000168267 ENSG00000168267 HGNC:23734 PTPN23 gene PTPN23 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000076201 ENSG00000076201 HGNC:14406 PTS gene PTS Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000150787 ENSG00000150787 HGNC:9689 PURA gene PURA Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000185129 ENSG00000185129 HGNC:9701 QARS gene QARS Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000172053 ENSG00000172053 HGNC:9751 QDPR gene QDPR Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000151552 ENSG00000151552 HGNC:9752 RAB11B gene RAB11B Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000185236 ENSG00000185236 HGNC:9761 RAB18 gene RAB18 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000099246 ENSG00000099246 HGNC:14244 RAB3GAP1 gene RAB3GAP1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000118873 ENSG00000118873 HGNC:17168 RARS2 gene RARS2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000146282 ENSG00000146282 HGNC:21406 RELN gene RELN Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000189056 ENSG00000189056 HGNC:9957 RFT1 gene RFT1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000163933 ENSG00000163933 HGNC:30220 RMND1 gene RMND1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000155906 ENSG00000155906 HGNC:21176 RNASEH2A gene RNASEH2A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000026297 ENSG00000026297 HGNC:21686 RNU4ATAC gene RNU4ATAC Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000264229 ENSG00000264229 HGNC:34016 ROGDI gene ROGDI Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000067836 ENSG00000067836 HGNC:29478 RORB gene RORB Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000198963 ENSG00000198963 HGNC:10259 RRM2B gene RRM2B Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000048392 ENSG00000048392 HGNC:17296 RTTN gene RTTN Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 26608784 False 3 0;0;0 0.5 False ENSG00000176225 ENSG00000176225 HGNC:18654 RUSC2 gene RUSC2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000198853 ENSG00000198853 HGNC:23625 SAMHD1 gene SAMHD1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000101347 ENSG00000101347 HGNC:15925 SCN1A gene SCN1A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCN1B gene SCN1B Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN2A gene SCN2A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000136531 ENSG00000136531 HGNC:10588 SCN8A gene SCN8A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000196876 ENSG00000196876 HGNC:10596 SCO1 gene SCO1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000130489 ENSG00000130489 HGNC:10604 SDHA gene SDHA Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000073578 ENSG00000073578 HGNC:10680 SEPSECS gene SEPSECS Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000109618 ENSG00000109618 HGNC:30605 SETBP1 gene SETBP1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000152217 ENSG00000152217 HGNC:15573 SETD1B gene SETD1B Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000139718 ENSG00000139718 HGNC:29187 SETD5 gene SETD5 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000168137 ENSG00000168137 HGNC:25566 SHH gene SHH Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000164690 ENSG00000164690 HGNC:10848 SIK1 gene SIK1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000142178 ENSG00000142178 HGNC:11142 SIX3 gene SIX3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000138083 ENSG00000138083 HGNC:10889 SLC12A5 gene SLC12A5 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000124140 ENSG00000124140 HGNC:13818 SLC13A5 gene SLC13A5 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC16A2 gene SLC16A2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000147100 ENSG00000147100 HGNC:10923 SLC1A2 gene SLC1A2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000110436 ENSG00000110436 HGNC:10940 SLC25A12 gene SLC25A12 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A22 gene SLC25A22 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000177542 ENSG00000177542 HGNC:19954 SLC2A1 gene SLC2A1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC35A2 gene SLC35A2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000102100 ENSG00000102100 HGNC:11022 SLC45A1 gene SLC45A1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000162426 ENSG00000162426 HGNC:17939 SLC6A1 gene SLC6A1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000157103 ENSG00000157103 HGNC:11042 SLC6A8 gene SLC6A8 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000130821 ENSG00000130821 HGNC:11055 SLC9A6 gene SLC9A6 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000198689 ENSG00000198689 HGNC:11079 SMC1A gene SMC1A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000072501 ENSG00000072501 HGNC:11111 SNORD118 gene SNORD118 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000200463 ENSG00000200463 HGNC:32952 SPR gene SPR Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000116096 ENSG00000116096 HGNC:11257 SPTAN1 gene SPTAN1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000197694 ENSG00000197694 HGNC:11273 ST3GAL3 gene ST3GAL3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000126091 ENSG00000126091 HGNC:10866 ST3GAL5 gene ST3GAL5 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000115525 ENSG00000115525 HGNC:10872 STAG1 gene STAG1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000118007 ENSG00000118007 HGNC:11354 STAMBP gene STAMBP Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000124356 ENSG00000124356 HGNC:16950 STRADA gene STRADA Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000266173 ENSG00000266173 HGNC:30172 STX1B gene STX1B Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000099365 ENSG00000099365 HGNC:18539 STXBP1 gene STXBP1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000136854 ENSG00000136854 HGNC:11444 SUCLA2 gene SUCLA2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000163541 ENSG00000163541 HGNC:11449 SUOX gene SUOX Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000139531 ENSG00000139531 HGNC:11460 SURF1 gene SURF1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000148290 ENSG00000148290 HGNC:11474 SYNGAP1 gene SYNGAP1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000197283 ENSG00000197283 HGNC:11497 SYNJ1 gene SYNJ1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000159082 ENSG00000159082 HGNC:11503 SZT2 gene SZT2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000198198 ENSG00000198198 HGNC:29040 TBC1D20 gene TBC1D20 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000125875 ENSG00000125875 HGNC:16133 TBC1D24 gene TBC1D24 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000162065 ENSG00000162065 HGNC:29203 TBCD gene TBCD Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000141556 ENSG00000141556 HGNC:11581 TBCK gene TBCK Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000145348 ENSG00000145348 HGNC:28261 TBL1XR1 gene TBL1XR1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000177565 ENSG00000177565 HGNC:29529 TCF4 gene TCF4 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000196628 ENSG00000196628 HGNC:11634 TFE3 gene TFE3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000068323 ENSG00000068323 HGNC:11752 TIMM50 gene TIMM50 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000105197 ENSG00000105197 HGNC:23656 TMEM70 gene TMEM70 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000175606 ENSG00000175606 HGNC:26050 TNK2 gene TNK2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000061938 ENSG00000061938 HGNC:19297 TPP1 gene TPP1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000166340 ENSG00000166340 HGNC:2073 TRAK1 gene TRAK1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000182606 ENSG00000182606 HGNC:29947 TRAPPC12 gene TRAPPC12 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000171853 ENSG00000171853 HGNC:24284 TRAPPC6B gene TRAPPC6B Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000182400 ENSG00000182400 HGNC:23066 TREX1 gene TREX1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM8 gene TRIM8 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000171206 ENSG00000171206 HGNC:15579 TRIP13 gene TRIP13 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000071539 ENSG00000071539 HGNC:12307 TSC1 gene TSC1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000103197 ENSG00000103197 HGNC:12363 TSEN2 gene TSEN2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN34 gene TSEN34 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000170892 ENSG00000170892 HGNC:15506 TSEN54 gene TSEN54 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000182173 ENSG00000182173 HGNC:27561 TSFM gene TSFM Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000123297 ENSG00000123297 HGNC:12367 TUBA1A gene TUBA1A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBA8 gene TUBA8 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBB gene TUBB Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000196230 ENSG00000196230 HGNC:20778 TUBB2B gene TUBB2B Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000258947 ENSG00000258947 HGNC:20772 TUBB4A gene TUBB4A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000104833 ENSG00000104833 HGNC:20774 TUBG1 gene TUBG1 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000131462 ENSG00000131462 HGNC:12417 UBA5 gene UBA5 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000081307 ENSG00000081307 HGNC:23230 UBE2A gene UBE2A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000077721 ENSG00000077721 HGNC:12472 UBE3A gene UBE3A Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000114062 ENSG00000114062 HGNC:12496 UNC80 gene UNC80 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000144406 ENSG00000144406 HGNC:26582 VLDLR gene VLDLR Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000147852 ENSG00000147852 HGNC:12698 WDR45 gene WDR45 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000196998 ENSG00000196998 HGNC:28912 WDR45B gene WDR45B Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000141580 ENSG00000141580 HGNC:25072 WDR62 gene WDR62 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000075702 ENSG00000075702 HGNC:24502 WDR73 gene WDR73 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders 25466283 False 3 0;0;0 0.5 False ENSG00000177082 ENSG00000177082 HGNC:25928 WWOX gene WWOX Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000186153 ENSG00000186153 HGNC:12799 YWHAG gene YWHAG Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000170027 ENSG00000170027 HGNC:12852 ZBTB18 gene ZBTB18 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000179456 ENSG00000179456 HGNC:13030 ZEB2 gene ZEB2 Expert Review Green;Victorian Clinical Genetics Services Epileptic encephalopathy Victorian Clinical Genetics Services Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 3 0;0;0 0.5 False ENSG00000169554 ENSG00000169554 HGNC:14881