Hearing Loss CDWGExpert Panels Documents Membership
The Hearing Loss Working Group aims to create a comprehensive, standardized knowledge base of genes and variants relevant to syndromic and nonsyndromic hearing loss.
- Identify and recruit hearing loss experts with expertise in racially/ethnically/regionally diverse populations throughout the world.
- Develop and implement a variant assessment framework for hearing loss genes.
- Implement the variant assessment framework to resolve discrepancies in variant interpretations in ClinVar.
- Establish a group with Expert Panel status for variant submission to ClinVar.
- Curate and adjudicate genes associated with hearing loss using ClinGen's Gene Curation Working Group's "Clinical Validity Classifications."
- Disseminate expert consensus gene and variant curation results via ClinVar, ClinGen's website, and publications.
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
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossPublications - October 11, 2018
Membership spans many fields, including genetics, medical, academia, and industry.