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Long QT syndrome

From SNPedia

Long QT syndrome (LQTS) is a rare inherited or acquired heart condition involving episodes of irregular heartbeats. These episodes may lead to palpitations, fainting, and sudden death due to ventricular fibrillation.Wikipedia

LQTS can arise from mutations in over ten different genes, but the genes most commonly involved are KCNQ1 (leading to Long QT syndrome 1, aka LQT1), KCNH2 (LQT2), and SCN5A (LQT3). Mutations deemed potentially pathogenic in any of these three genes are considered important enough by the ACMG to warrant reporting to any person who's DNA sequence reveals them incidentally.[PMID 23788249OA-icon.png]