Clinical Domain Working Groups

The arrhythmogenic right ventricular cardiomyopathy (ARVC) Gene Curation Expert Panel is focused on defining the genes in which pathogenic variants clearly cause arrhythmogenic right ventricular cardiomyopathy. The gene-disease validity curation process includes 6 classification categories describing the level of evidence supporting a given gene-disease relationship: Definitive, Strong, Moderate, Limited, Disputed, and Refuted.

This GCEP will analyze gene:disease relationships for ARVC; the ARVC gene list includes Cypher/ZASP (LDB3), RYR2, DSP, CDH2, JUP, DES, DSC2, DSG2, LMNA, CTNNA3, PLN, SCN5A, TTN, TMEM43, PKP2, and TGFB3.

Addendum: In December 2018, additional genes were added to this gene list. These genes included the sarcomere genes and newly associated ARVC genes found in the literature: ACTC1, MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2, TPM1, TNNC1 and TJP1.