ClinGen Dosage Sensitivity Curation Page

USH2A

  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype

Haploinsufficiency phenotype comments:

Variants in USH2A have been reported in association with Usher syndrome type 2 (USH2), an autosomal recessive condition. Furthermore, the overall evidence that USH2A, when altered, causes USH2 has been expert reviewed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE

  • Triplosensitivity score: Not yet evaluated
  • Strength of Evidence (disclaimer): Not yet evaluated