KCNQ1 Variant Curation Expert Panel


KCNQ1 has been associated with Long QT Syndrome (LQTS), a life-threatening cardiac arrhythmia syndrome and leading cause of sudden death.

The goal of the KCNQ1 Variant Curation Expert Panel is to specifiy the ACMG guidelines for KCNQ1.

Expert Status - In progress

Step 1
Step 2
Step 3
Step 4
Define Group
Complete
Develop Classification Rules
In progress
Pilot Rules
Expert Panel Approval

Leadership

Michael Gollob, MD


Coordinators

Please contact a coordinator if you have questions.

C. Lisa Kurtz, PhD
lisa_kurtz@med.unc.edu


Membership

Membership in this committee spans many fields, including genetics, medical, academia, and industry. [View Members]
For more information, please contact:

C. Lisa Kurtz, PhD
lisa_kurtz@med.unc.edu


What is VARIANT CURATION?

A systematic process of evaluating evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.