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 CAVIN4 gene CAVIN4 South West GLH Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Cardiovascular disorders Unknown False 1 0;100;0 3.9 False ENSG00000170681 ENSG00000170681 HGNC:33742 CTNNA3 gene CTNNA3 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;South West GLH Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia, familial, 13, False 1 0;0;100 3.9 False ENSG00000183230 ENSG00000183230 HGNC:2511 LDB3 gene LDB3 Expert list;Expert Review Red;South West GLH Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;33;67 3.9 False ENSG00000122367 ENSG00000122367 HGNC:15710 RBM20 gene RBM20 London South GLH Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Cardiovascular disorders Cardiomyopathy, dilated, 1DD 613172 29650543;22466703;22561820;30482687 False 1 25;25;50 3.9 False ENSG00000203867 ENSG00000203867 HGNC:27424 RYR2 gene RYR2 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;London South GLH;Radboud University Medical Center, Nijmegen;South West GLH;Wessex and West Midlands GLH Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 2;Arrhythmogenic right ventricular dysplasia 2 (600996);Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) http://www.ncbi.nlm.nih.gov/books/NBK1131/;19926015;17875969;29567486;28404607 False 1 25;50;25 3.9 False ENSG00000198626 ENSG00000198626 HGNC:10484 SCN5A gene SCN5A Literature;London South GLH;South West GLH Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular cardiomyopathy; Long QT syndrome; Brugada syndrome; Dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 24317018;doi:10. 1007/ s12265-016-9673-5;26916278;28069705 False 1 20;20;60 3.9 False ENSG00000183873 ENSG00000183873 HGNC:10593 TGFB3 gene TGFB3 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;London South GLH;Radboud University Medical Center, Nijmegen;South West GLH Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 1 False 1 0;20;80 3.9 False ENSG00000119699 ENSG00000119699 HGNC:11769 TTN gene TTN Expert list;Expert Review Red;London South GLH;South West GLH Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1G, 604145 30535219;31251381;33106378 False 1 17;17;67 3.9 False ENSG00000155657 ENSG00000155657 HGNC:12403