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 DES gene DES Expert list;Expert Review Green;South West GLH Progressive cardiac conduction disease BOTH monoallelic and biallelic, autosomal or pseudoautosomal Desminopathy-associated AV conduction block;atrioventricular block (disease), MONDO:0000465 16376610;16890305 False 3 60;40;0 2.6 False ENSG00000175084 ENSG00000175084 HGNC:2770 EMD gene EMD Expert Review Green;South West GLH Progressive cardiac conduction disease X-LINKED: hemizygous mutation in males, biallelic mutations in females Heart conduction disease, MONDO:0000992 29349559 False 3 50;50;0 2.6 False ENSG00000102119 ENSG00000102119 HGNC:3331 GLA gene GLA Expert Review Green;NHS GMS Progressive cardiac conduction disease X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease, cardiac variant, OMIM:301500 False 3 50;50;0 2.6 False ENSG00000102393 ENSG00000102393 HGNC:4296 HCN4 gene HCN4 Expert Review Green;South West GLH Progressive cardiac conduction disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sick sinus syndrome 2, OMIM:163800 19796353;16407510;12750403;17646576 False 3 75;25;0 2.6 False ENSG00000138622 ENSG00000138622 HGNC:16882 LAMP2 gene LAMP2 Expert Review Green;NHS GMS Progressive cardiac conduction disease X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease, 300257 False 3 50;50;0 2.6 False ENSG00000005893 ENSG00000005893 HGNC:6501 LMNA gene LMNA Expert list;Expert Review Green;London South GLH;South West GLH Progressive cardiac conduction disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Laminopathy-associated AV conduction block;atrioventricular block (disease), MONDO:0000465 18035086;27884249;29095976;23582089 False 3 67;33;0 2.6 False ENSG00000160789 ENSG00000160789 HGNC:6636 NKX2-5 gene NKX2-5 Expert Review Green;London South GLH;South West GLH Progressive cardiac conduction disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect 7, with or without AV conduction defects OMIM:108900 28259982;15109497 False 3 50;50;0 2.6 False ENSG00000183072 ENSG00000183072 HGNC:2488 PRKAG2 gene PRKAG2 Expert list;Expert Review Green;London South GLH Progressive cardiac conduction disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wolff-Parkinson-White syndrome, OMIM:194200 26729852;12015471;26085771 False 3 60;40;0 2.6 False ENSG00000106617 ENSG00000106617 HGNC:9386 SCN5A gene SCN5A Expert list;Expert Review Green;London South GLH;South West GLH;Wessex and West Midlands GLH Progressive cardiac conduction disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heart block, progressive, OMIM:113900;Heart block, progressive, type IA, OMIM:113900 11804990;16643399;15466643;15372490 False 3 71;29;0 2.6 False ENSG00000183873 ENSG00000183873 HGNC:10593 TNNI3K gene TNNI3K Expert Review Green;Literature Progressive cardiac conduction disease MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac conduction disease with or without dilated cardiomyopathy, OMIM:616117 24925317;25791106;29355681;30010057 False 3 100;0;0 2.6 False ENSG00000116783 ENSG00000116783 HGNC:19661 TTR gene TTR Expert Review Green;NHS GMS Progressive cardiac conduction disease MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heart conduction disease, MONDO:0000992 False 3 50;50;0 2.6 False ENSG00000118271 ENSG00000118271 HGNC:12405