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 Review Green;NHS GMS Cardiac conduction disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted heart conduction disease MONDO:0000992 Cardiac conduction abnormality;HP:0031546 39252922;16376610;16890305 False 3 100;0;0 1.6 True ENSG00000175084 ENSG00000175084 HGNC:2770 EMD gene EMD Expert Review Green;NHS GMS Cardiac conduction disease Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females heart conduction disease MONDO:0000992 Cardiac conduction abnormality;HP:0031546 32755394;31802929;11385714 False 3 100;0;0 1.6 False ENSG00000102119 ENSG00000102119 HGNC:3331 GLA gene GLA Expert Review Green;NHS GMS Cardiac conduction disease Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Fabry disease MONDO:0010526" Cardiac conduction abnormality;HP:0031546 34067605;34266644;31286959;28668140 False 3 100;0;0 1.6 True ENSG00000102393 ENSG00000102393 HGNC:4296 HCN4 gene HCN4 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Cardiac conduction disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sick sinus syndrome MONDO:0001823 Cardiac conduction abnormality;HP:0031546 21220308;15123648;29447731;12750403;16407510;17646576;25145518 False 3 100;0;0 1.6 True ENSG00000138622 ENSG00000138622 HGNC:16882 LAMP2 gene LAMP2 Expert Review Green;NHS GMS Cardiac conduction disease Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease MONDO:0010281 Cardiac conduction abnormality;HP:0031546 25228319;30857840 False 3 100;0;0 1.6 True ENSG00000005893 ENSG00000005893 HGNC:6501 LMNA gene LMNA Expert Review Green;NHS GMS Cardiac conduction disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted atrioventricular block MONDO:0000465 Cardiac conduction abnormality;HP:0031546 18035086;27884249;20301717 False 3 100;0;0 1.6 True ENSG00000160789 ENSG00000160789 HGNC:6636 NKX2-5 gene NKX2-5 Expert Review Green;NHS GMS Cardiac conduction disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NKX2.5-related congenital, conduction and myopathic heart disease MONDO:0800441 Cardiac conduction abnormality;HP:0031546 28259982;15109497;37697673 False 3 100;0;0 1.6 True ENSG00000183072 ENSG00000183072 HGNC:2488 POPDC2 gene POPDC2 Expert Review Green;Literature;Other Cardiac conduction disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367 Cardiac conduction abnormality;HP:0031546 39006410;32535041 False 3 100;0;0 1.6 True ENSG00000121577 ENSG00000121577 HGNC:17648 PRKAG2 gene PRKAG2 Expert Review Green;NHS GMS Cardiac conduction disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PRKAG2-related cardiomyopathy MONDO:0800484 Cardiac conduction abnormality;HP:0031546 26729852;32646569 False 3 100;0;0 1.6 True ENSG00000106617 ENSG00000106617 HGNC:9386 SCN5A gene SCN5A Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Cardiac conduction disease Cardiovascular disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal progressive familial heart block MONDO:0019490;SCN5A-related cardiac rhythm disorder MONDO:1010181 Cardiac conduction abnormality;HP:0031546 39134129;11804990;16643399;15466643 False 3 100;0;0 1.6 False ENSG00000183873 ENSG00000183873 HGNC:10593 TBX5 gene TBX5 Expert Review Green;NHS GMS Cardiac conduction disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holt-Oram syndrome MONDO:0007732 Cardiac conduction abnormality;HP:0031546 20301290 False 3 100;0;0 1.6 True ENSG00000089225 ENSG00000089225 HGNC:11604 TNNI3K gene TNNI3K Expert Review Green;NHS GMS Cardiac conduction disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted atrial conduction disease MONDO:0014500 Cardiac conduction abnormality;HP:0031546 25791106;24925317;30010057;29355681 False 3 100;0;0 1.6 True ENSG00000116783 ENSG00000116783 HGNC:19661 TTR gene TTR Expert Review Green;NHS GMS Cardiac conduction disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary amyloidosis MONDO:0018634 Cardiac conduction abnormality;HP:0031546 35074177;39196575 False 3 100;0;0 1.6 True ENSG00000118271 ENSG00000118271 HGNC:12405 CLCA2 gene CLCA2 Expert Review Amber;NHS GMS Cardiac conduction disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted heart conduction disease MONDO:0000992 Cardiac conduction abnormality;HP:0031546 31326550 False 2 0;100;0 1.6 True ENSG00000137975 ENSG00000137975 HGNC:2016 GJA5 gene GJA5 Expert Review Amber;NHS GMS Cardiac conduction disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted heart conduction disease MONDO:0000992 Cardiac conduction abnormality;HP:0031546 9501069;10086977;22247482;36352534 False 2 0;100;0 1.6 True ENSG00000143140 ENSG00000265107 HGNC:4279 SCN1B gene SCN1B Expert Review Amber;NHS GMS Cardiac conduction disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heart conduction disease MONDO:0000992 Cardiac conduction abnormality;HP:0031546 19808477;18464934;28878239;29758173 False 2 0;100;0 1.6 True ENSG00000105711 ENSG00000105711 HGNC:10586 TRPM4 gene TRPM4 Expert Review Amber;NHS GMS Cardiac conduction disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted progressive familial heart block type IB MONDO:0011474 Cardiac conduction abnormality;HP:0031546 41195386;19726882;26820365;21887725;32681584;20562447;25531103;27207958;29568272;29748318;36352534;35205305 False 2 0;100;0 1.6 True Other ENSG00000130529 ENSG00000130529 HGNC:17993 GNB2 gene GNB2 Expert list;Expert Review Red;Literature Cardiac conduction disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sick sinus syndrome 4, MIM# 619464 Cardiac conduction abnormality;HP:0031546 28219978 False 1 0;0;100 1.6 False ENSG00000172354 ENSG00000172354 HGNC:4398 MRC2 gene MRC2 Expert Review Red;Literature Cardiac conduction disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wolff-Parkinson-White syndrome - MONDO:0008685, MRC2-related Cardiac conduction abnormality;HP:0031546 PMID - 38953222 False 1 0;0;100 1.6 True ENSG00000011028 ENSG00000011028 HGNC:16875 NNT gene NNT Expert Review Red;Literature Cardiac conduction disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted left ventricular noncompaction MONDO:0018901 Cardiac conduction abnormality;HP:0031546 26025024 False 1 0;0;100 1.6 True ENSG00000112992 ENSG00000112992 HGNC:7863