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 CLCA2 gene CLCA2 Expert Review Amber;NHS GMS Progressive cardiac conduction disease MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heart conduction disease, MONDO:0000992 False 2 0;100;0 2.6 False ENSG00000137975 ENSG00000137975 HGNC:2016 SCN1B gene SCN1B Expert Review Amber;London South GLH;South West GLH Progressive cardiac conduction disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac conduction defect, nonspecific, OMIM:612838;Brugada syndrome 5, OMIM:612838;Atrial fibrillation, familial, 13, OMIM:615377 18464934;28878239;25426816 False 2 0;100;0 2.6 False ENSG00000105711 ENSG00000105711 HGNC:10586 TBX5 gene TBX5 Expert Review Amber;London South GLH;South West GLH Progressive cardiac conduction disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holt-Oram syndrome, OMIM:142900 29755943 False 2 40;60;0 2.6 False ENSG00000089225 ENSG00000089225 HGNC:11604 TRPM4 gene TRPM4 Expert Review Amber;London South GLH;South West GLH;Wessex and West Midlands GLH Progressive cardiac conduction disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive familial heart block, type IB, OMIM:604559 19726882;20562447;21887725;29748318;30021168;29568272 False 2 50;50;0 2.6 False ENSG00000130529 ENSG00000130529 HGNC:17993 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