Clinical Domain Working Groups

Epilepsy Gene Curation Expert Panel

Membership Documents

The Epilepsy Gene Curation Expert Panel is focused on defining the genes in which pathogenic variants clearly cause epilepsy phenotypes. The gene-disease validity curation process includes 6 classification categories describing the level of evidence supporting a given gene-disease relationship: Definitive, Strong, Moderate, Limited, Disputed, Refuted.

Expert Panel Status - Approved Expert Panel

Step 1
Step 2
Define Group
Expert Panel Approval
Completed Jul. 2018


Expert Panel Membership

Membership spans many fields, including genetics, medical, academia, and industry.