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 CHRNA4 gene CHRNA4 Expert Review Green;Literature Familial Focal Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 600513 7550350 False 3 100;0;0 1.11 True ENSG00000101204 ENSG00000101204 HGNC:1958 CHRNB2 gene CHRNB2 Expert Review Green;Literature Familial Focal Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 605375 11062464 False 3 50;0;50 1.11 True ENSG00000160716 ENSG00000160716 HGNC:1962 CNTNAP2 gene CNTNAP2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial Focal Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical Dysplasia-Focal Epilepsy Syndrome 16571880 False 3 0;0;0 1.11 True ENSG00000174469 ENSG00000174469 HGNC:13830 DEPDC5 gene DEPDC5 Expert Review Green;Radboud University Medical Center, Nijmegen Familial Focal Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial focal, with variable foci;604364 14510823;15329069;10825362;10577924;9851433;23542701 False 3 100;0;0 1.11 True ENSG00000100150 ENSG00000100150 HGNC:18423 KCNT1 gene KCNT1 Expert Review Green;Literature Familial Focal Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 615005 23086396 False 3 100;0;0 1.11 True ENSG00000107147 ENSG00000107147 HGNC:18865 LGI1 gene LGI1 Expert Review;Expert Review Green Familial Focal Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epilepsy, familial temporal lobe, 1 600512" False 3 100;0;0 1.11 True ENSG00000108231 ENSG00000108231 HGNC:6572 SCN1A gene SCN1A Expert Review Green;Literature Familial Focal Epilepsies Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 607208 26188943 False 3 100;0;0 1.11 True ENSG00000144285 ENSG00000144285 HGNC:10585