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 GABRA1 gene GABRA1 Expert list;Expert Review Green Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 611136 11992121;21714819;16718694 False 3 100;0;0 1.24 True ENSG00000022355 ENSG00000022355 HGNC:4075 GABRG2 gene GABRG2 Expert Review Green;Radboud University Medical Center, Nijmegen Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, generalized, with febrile seizures plus,type3;Febrile seizures, familial, 8;611277 27066572;11326275;11326274 False 3 100;0;0 1.24 True ENSG00000113327 ENSG00000113327 HGNC:4087 PCDH19 gene PCDH19 Expert list;Expert Review Green Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 300088 19752159 False 3 100;0;0 1.24 True Other - please provide details in the comments ENSG00000165194 ENSG00000165194 HGNC:14270 SCN1A gene SCN1A Expert Review Green;Radboud University Medical Center, Nijmegen Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, generalized, with febrile seizures plus, type 2;Febrile seizures, familial, 3A;604403 10742094 False 3 100;0;0 1.24 True ENSG00000144285 ENSG00000144285 HGNC:10585 SCN1B gene SCN1B Expert Review Green;Radboud University Medical Center, Nijmegen Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, generalized, with febrile seizures plus, type 1;604233 16205844;9697698 False 3 100;0;0 1.24 True ENSG00000105711 ENSG00000105711 HGNC:10586 SLC2A1 gene SLC2A1 Expert Review Green;Radboud University Medical Center, Nijmegen Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Epilepsy,idiopathicgeneralized,suscpetibilityto,12};614847;606777;612126 22282645;20574033 False 3 100;0;0 1.24 True ENSG00000117394 ENSG00000117394 HGNC:11005 TRAK1 gene TRAK1 Expert Review Green;Literature Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fatal encephalopathy 28364549 False 3 100;0;0 1.24 False ENSG00000182606 ENSG00000182606 HGNC:29947 CACNA1H gene CACNA1H Expert Review Amber;Literature Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Hyperaldosteronism, familial, type IV 617027;{Epilepsy, childhood absence, susceptibility to, 6} 611942;{Epilepsy, idiopathic generalized, susceptibility to, 6} 611942" 12891677;12891677 False 2 0;100;0 1.24 False ENSG00000196557 ENSG00000196557 HGNC:1395 CACNA1G gene CACNA1G Literature Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 42 616795 17397049 False 1 0;0;100 1.24 False ENSG00000006283 ENSG00000006283 HGNC:1394 CACNB4 gene CACNB4 Radboud University Medical Center, Nijmegen Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682{Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682Episodic ataxia, type 5, 613855 False 1 0;0;0 1.24 False ENSG00000182389 ENSG00000182389 HGNC:1404 CASR gene CASR Radboud University Medical Center, Nijmegen Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899Hypercalciuric hypercalcemia{Calcium, serum level of} False 1 0;0;0 1.24 False ENSG00000036828 ENSG00000036828 HGNC:1514 CLCN2 gene CLCN2 Literature Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leukoencephalopathy with ataxia, 615651;{Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628;{Epilepsy, juvenile absence, susceptibility to, 2}, 607628;{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 23707145;19191339 False 1 0;0;100 1.24 False ENSG00000114859 ENSG00000114859 HGNC:2020 CNTN2 gene CNTN2 Radboud University Medical Center, Nijmegen Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders Epilepsy, familial adult myoclonic, 5 False 1 0;0;0 1.24 False ENSG00000184144 ENSG00000184144 HGNC:2172 CPA6 gene CPA6 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Temporal Lobe Epilepsy False 1 0;0;0 1.24 False ENSG00000165078 ENSG00000165078 HGNC:17245 DEPDC5 gene DEPDC5 Radboud University Medical Center, Nijmegen Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders Epilepsy, familial focal, with variable foci False 1 0;0;0 1.24 False ENSG00000100150 ENSG00000100150 HGNC:18423 FTL gene FTL Radboud University Medical Center, Nijmegen Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders Epilepsy, familial temporal lobe, 2 (2) False 1 0;0;0 1.24 False ENSG00000087086 ENSG00000087086 HGNC:3999 GABRB3 gene GABRB3 Radboud University Medical Center, Nijmegen Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders {Epilepsy,juvenilemyoclonic,susceptibilityto,8},607628{Epilepsy,juvenileabsence,susceptibilityto,2},607628{Epilepsy,idiopathicgeneralized,susceptibilityto,11},607628 False 1 0;0;0 1.24 False ENSG00000166206 ENSG00000166206 HGNC:4083 KCNMA1 gene KCNMA1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Generalized Epilepsy and Paroxysmal Dyskinesia False 1 0;0;0 1.24 False ENSG00000156113 ENSG00000156113 HGNC:6284 KCNQ3 gene KCNQ3 Illumina TruGenome Clinical Sequencing Services Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Benign Familial Neonatal Seizures False 1 0;0;0 1.24 False ENSG00000184156 ENSG00000184156 HGNC:6297 LGI1 gene LGI1 Radboud University Medical Center, Nijmegen Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders Epilepsy, familial temporal lobe, 1 False 1 0;0;0 1.24 False ENSG00000108231 ENSG00000108231 HGNC:6572 NEDD4L gene NEDD4L Radboud University Medical Center, Nijmegen Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders pilepsy,photosensitivegeneralized(Dibbens(2007)GenesBrainBehav6,750) False 1 0;0;0 1.24 False ENSG00000049759 ENSG00000049759 HGNC:7728 PRRT2 gene PRRT2 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders False 1 0;0;0 1.24 False ENSG00000167371 ENSG00000167371 HGNC:30500 SCN2A gene SCN2A Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Benign Familial Neonatal Infantile Seizures False 1 0;0;0 1.24 False ENSG00000136531 ENSG00000136531 HGNC:10588 SCN9A gene SCN9A Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Febrile Seizures False 1 0;0;0 1.24 False ENSG00000169432 ENSG00000169432 HGNC:10597 TBC1D24 gene TBC1D24 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial Genetic Generalised Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Familial Infantile Myoclonic Epilepsy False 1 0;0;0 1.24 False ENSG00000162065 ENSG00000162065 HGNC:29203