Arrhythmogenic Right Ventricular Cardiomyopathy Gene Curation Expert Panel


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, Refuted.

This GCEP will begin by analyzing gene:disease relationships for ARVC; the ARVC gene list includes Cypher/ZASP, RyR2, DSP, CDH2, JUP, DES, DSC2, DSG2, LMNA, CTNNA3, PLN, SCN5A, TTN, TMEM43, TGFB3 and SCN3B, with others under consideration as curation goes on.

Expert Status - In progress

Step 1
Step 2
Define Group
In progress
Expert Panel Approval

Leadership

Peter van Tintelen, MD, PhD

Cindy James, ScM, CGC, PhD

Jan Jongbloed, PhD

Ray Hershberger, MD


Coordinators

Please contact a coordinator if you have questions.

C. Lisa Kurtz, PhD
lisa_kurtz@med.unc.edu


Membership

Membership in this committee spans many fields, including genetics, medical, academia, and industry. [View Members]
For more information, please contact:

C. Lisa Kurtz, PhD
lisa_kurtz@med.unc.edu


What is GENE CURATION?

A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.