High-throughput phenotyping of heteromeric human ether-a-go-go-related gene potassium channel variants can discriminate pathogenic from rare benign variants

摘要

BACKGROUND KCNH2 encodes the human ether-a-go-go-related gene potassium channel, which passes the rapid delayed rectifier potassium current. Loss-of-function variants in KCNH2 cause long QT syndrome type 2, which is associated with a markedly increased risk of cardiac arrhythmias. The majority of rare KCNH2 variants, however, are likely to be benign.