ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000016.9) (NC_000016.10)

Haploinsufficiency phenotype comments:

Variation in OTOA has been reported in individuals with autosomal recessive nonsyndromic deafness characterized by severe to profound prelingual onset. Furthermore, the overall evidence that OTOA, when altered, causes autosomal recessive nonsyndromic deafness was assessed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE after primary curation.

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