Clinical Domain Working Groups

Intellectual Disability and Autism Gene Curation Expert Panel

Membership Documents

The Intellectual Disability/ Autism Gene Curation Expert Panel is focused on defining the genes in which pathogenic variants clearly cause intellectual disability and/or autism. 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
Complete
Expert Panel Approval
Completed Jul. 2018

Documents

Expert Panel Membership

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