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.
|Peter van Tintelen, MD, PhD||Executive Leadership|
|Cindy James, ScM, CGC, PhD||Executive Leadership|
|Jan Jongbloed, PhD||Executive Leadership|
|Ray Hershberger, MD||Executive Leadership|
|Petros Syrris||Executive Committee|
|Ana Morales, MS, LGC||Executive Committee|
|Kalliopi (Kelly) Pilichou||Executive Committee|
|Argelia Medeiros Domingo, MD, PhD||Executive Committee|
|Dan Judge, MD||Executive Committee|
|C. Lisa Kurtz, PhD||Coordinator|
|Elizabeth Jordan, MS, LGC||Member|
|Julia Cadrin-Tourigny, MD||Member|
|Emily Brown, MGC, CGC||Member|
|Brittney Murray, MS, CGC||Member|
|Ronald Lekanne Deprez||Member|
|Paul van der Zwaag||Member|
|Babken Asatryan, MD||Member|
|Jennifer McGlaughon, PhD||Member|
|Courtney Thaxton, PhD||Member|
Please contact a coordinator if you have questions.
A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.