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

KCNH2 encodes the human ether- à-go-go-related gene (hERG) potassium channel, which passes the rapid delayed rectifier potassium current, IKr. Loss-of-function variants in KCNH2 cause long QT syndrome type 2 (LQTS2) which is associated with a markedly increased risk of cardiac arrhythmias. The majority of rare KCNH2 variants how ever are likely to be benign.

Source: Heart Rhythm - September 22, 2019 Category: Cardiology Authors: Chai-Ann Ng, Matthew D. Perry, Whitney Liang, Nicola J. Smith, Brian Foo, Alvin Shrier, Gergely L. Lukacs, Adam P. Hill, Jamie I. Vandenberg Source Type: research