Clinical Domain Working Groups

Long QT Syndrome Gene Curation Expert Panel

Membership 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.

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