ClinGen Dosage Sensitivity Curation Page

GJB2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000013.10) (NC_000013.11)

Haploinsufficiency phenotype comments:

GJB2 is associated with both autosomal recessive and autosomal dominant nonsydromic hearing loss, as well as a number of autosomal dominant deafness/skin disorders (see loss phenotype OMIM ID). Mutations seen in the AD forms of disease are missense mutations and are believed to act in a dominant negative action. A discussion of this can be found in PMID:19939300 and The GeneReviews for DFNA3 (NBK1536).

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity