Clinical Domain Working Groups

KCNQ1 Variant Curation Expert Panel

Membership Documents

KCNQ1 codes for a protein involved in potassium channel construction and plays a key role in the generation and transmission of electrical signals, primarily in the inner ear and heart. Pathogenic variants in KCNQ1 are estimated to cause approximately ⅓ to ½ of long QT syndrome cases, a common form of arrhythmia inherited in an autosomal dominant fashion. Several pathogenic variants have also been identified in patients with short QT syndrome. About 90% of Jervell and Lange-Nielsen syndrome, an arrhythmia and hearing loss disorder, cases are caused by pathogenic variants in this gene when inherited in an autosomal recessive manner.

This expert panel will provide assessment regarding the pathogenicity of variants in KCNQ1 with respect to the AD long QT syndrome only.

Expert Panel Status

Step 1
Step 2
Step 3
Step 4
Define Group
Completed Nov. 2017
Develop Classification Rules
Completed Oct. 2018
Pilot Rules
In progress
Expert Panel Approval