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 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