KCNE1 encodes the beta-subunit of voltage-gated potassium channels and is thought to assemble with KCNQ1/KVLQT1 to form Iks (the slowly activating delayed rectifier cardiac potassium channel). There is strong evidence associating KCNE1 with acquired LQTS, however, only limited evidence for its association with unprovoked LQTS. Furthermore, several case reports have identified homozygous or compound heterozygous rare variants in KCNE1 in patients with Jervell-Lange-Nielsen Syndrome, however parents or siblings carrying only one allele have reported normal phenotypes suggesting an association of this gene with an autosomal-recessive form of LQTS (PMIDs 9354783, 9328483, 9445165). 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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