Clinical Domain Working Groups
Hearing Loss Gene Curation Expert PanelMembership Documents
The Hereditary Hearing Loss Gene Curation Expert Panel is focused on defining the genes in which pathogenic variants cause hearing loss. 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
Expert Interpretation of Genes and Variants in Hereditary Hearing LossPublications - September 16, 2020
ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene–Disease PairsPublications - March 21, 2019
Gene-Disease Validity Standard Operating Procedures, Version 6 (Archived)Curation Activity Procedures - August 29, 2018 Archived Document
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.