KCNQ1 encodes the alpha subunit of the slowly activating delayed rectifier cardiac potassium channel (Iks). Wang et al. were the first to identify variants in this gene using linkage analysis in families with LQTS (PMID 8528244). An abundance of experimental and genetic evidence, including segregation and case-control data, has accumulated over the decades since this publication to support the association of KCNQ1 with LQTS. Note: All LQTS genes were curated by 3 separate blinded teams. The evidence and scores reached by these 3 teams were reviewed by the LQTS Clinical Domain Expert Panel. For a detailed discussion of this group's work and the separate scores of the 3 teams please see "Adler et al. An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome. Circulation 2020;141(6):418-428. doi: 10.1161/CIRCULATIONAHA.119.043132”
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