Hereditary Hearing Loss Variant Curation Expert Panel


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 Status - In progress

Step 1
Step 2
Step 3
Step 4
Define Group
Complete
Develop Classification Rules
Completed
Pilot Rules
In progress
Expert Panel Approval

Leadership

Ahmad Abou Tayoun, PhD

Sami Amr, PhD

Heidi Rehm, PhD


Coordinators

Please contact a coordinator if you have questions.

Andrea Oza, MS, CGC
amoza@partners.org


Membership

38 members contribute to the Hereditary Hearing Loss Variant EP. All Members
What is VARIANT CURATION?

A systematic process of evaluating evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.