Clinical Domain Working Groups

Hearing Loss Variant Curation Expert Panel

Membership 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

Step 1
Step 2
Step 3
Step 4
Define Group
Completed Nov. 2017
Develop Classification Rules
Completed Aug. 2018
Pilot Rules
Completed Aug. 2018
Expert Panel Approval
Completed Aug. 2018

Documents

Expert Panel Membership

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

Coordinators


Chairs

Coordinators
Please contact a coordinator if you have questions.