ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000021.8) (NC_000021.9)

Haploinsufficiency phenotype comments:

Variation in TMPRSS3 has been reported in individuals with autosomal recessive nonsyndromic hearing loss (ARNSHL); furthermore, the overall evidence that TMPRSS3, when altered, can cause ARNSHL was expert reviewed by the ClinGen Hearing Loss Working Group (HLWG) and classified as DEFINITIVE.

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