Clinical Domain Working Groups
Long QT Syndrome Gene Curation Expert PanelMembership Documents
The disease area of focus will be Long QT Syndrome (LQTS). LQTS is a cardiac electrophysiologic disorder characterized by prolonged QT intervals and T-wave abnormalities on ECG. The most common symptom in affected individuals is syncope, but can include ventricular fibrillation or sudden death. Diagnosis is verified by prolongation of the QTc interval.
The genes to be curated by the LQTS GCEP include:
AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, and TRDN.
Expert Panel Status - In progress
ClinGen Long QT Syndrome Gene Curation Expert Panel COIConflict Of Interest (COI) - April 12, 2019
Gene-Disease Validity Standard Operating Procedures, Version 6Curation Activity Procedures - August 29, 2018
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.