Clinical Domain Working Groups
Hearing Loss Variant Curation Expert PanelMembership Documents
The ClinGen Hearing Loss Expert Panel represents members at over 15 institutions across 4 continents, with a diverse array of backgrounds, including physicians (clinical geneticists, otolaryngologists, neuro-otologists,), clinical laboratory diagnosticians, and clinical and basic research scientists and genetic counselors. All members have a focus on the genetics and genomics of hearing loss.
The Hearing Loss Expert Panel aims to specify the existing ACMG guidelines for variant classification in hearing loss genes and review variants for expert classification including resolving discrepancies in existing variant classification in ClinVar prioritizing the most common genes and variants associated to hearing loss.
Expert Panel Status
Expert Interpretation of Genes and Variants in Hereditary Hearing LossPublications - September 16, 2020
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossPublications - October 11, 2018
ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1Curation Activity Procedures - August 15, 2018
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.