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 ACTN2 gene ACTN2 Expert Review Red;NHS GMS Progressive cardiac conduction disease MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heart conduction disease, MONDO:0000992 False 1 0;0;100 2.6 False ENSG00000077522 ENSG00000077522 HGNC:164 ANK2 gene ANK2 South West GLH Progressive cardiac conduction disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heart conduction disease, MONDO:0000992 30929919 False 1 0;0;100 2.6 False ENSG00000145362 ENSG00000145362 HGNC:493 FLNC gene FLNC Expert Review Red;NHS GMS Progressive cardiac conduction disease MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heart conduction disease, MONDO:0000992 False 1 0;0;100 2.6 False ENSG00000128591 ENSG00000128591 HGNC:3756 GJA5 gene GJA5 South West GLH Progressive cardiac conduction disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heart conduction disease, MONDO:0000992 22247482 False 1 0;33;67 2.6 False ENSG00000143140 ENSG00000265107 HGNC:4279 KCNK17 gene KCNK17 South West GLH Progressive cardiac conduction disease Unknown Heart conduction disease, MONDO:0000992 24972929 False 1 0;33;67 2.6 False ENSG00000124780 ENSG00000124780 HGNC:14465 TBX3 gene TBX3 Expert Review Red;South West GLH Progressive cardiac conduction disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heart conduction disease, MONDO:0000992 30820409 False 1 0;33;67 2.6 False ENSG00000135111 ENSG00000135111 HGNC:11602