Clinical Domain Working Groups
Long QT Syndrome Gene Curation Expert PanelMembership Documents
Long QT syndrome (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 - Approved Expert Panel
ClinGen Long QT Syndrome Gene Curation Expert Panel COIConflict Of Interest (COI) - April 24, 2019
Gene-Disease Validity Standard Operating Procedures, Version 6Curation Activity Procedures - August 29, 2018 Archived Document
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.