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.
|Michael Gollob, MD||Executive Leadership|
|Michael Ackerman, MD PhD||Executive Committee|
|Ray Hershberger, MD||Executive Committee|
|Arthur Wilde MD, PhD||Executive Committee|
|C. Lisa Kurtz, PhD||Coordinator|
|Melanie Care, MSc, CGC||Member|
|John Garcia, PhD||Member|
|Valeria Novelli PhD||Member|
|Amy Sturm, MS, LGC||Member|
|James Ware, PhD||Member|
Please contact a coordinator if you have questions.
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.