Hereditary Hearing Loss

Clinical Domain Working Groups(CDWG)

 

The Hearing Loss Working Group aims to create a comprehensive, standardized knowledge base of genes and variants relevant to syndromic and nonsyndromic hearing loss.

Goals:

  • 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.

 


Chairs

Heidi Rehm, PhD
Principal Investigator, "Unified Clinical Genomics Database" (U41 Grant)

Coordinator


Members