Clinical Domain Working Groups
Intellectual Disability and Autism Gene Curation Expert PanelMembership 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
Intellectual Disability and Autism Gene Curation Expert Panel COIConflict Of Interest (COI) - March 26, 2019
Gene-Disease Validity Standard Operating Procedures, Version 6Curation Activity Procedures - August 29, 2018
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.