Hereditary Hearing Loss Gene Curation Expert Panel


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 Status - Approved Expert Panel

Step 1
Step 2
Define Group
Complete
Expert Panel Approval
Complete

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

15 members contribute to the Hereditary Hearing Loss Gene EP. All Members
What is GENE CURATION?

A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.