ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000010.10) (NC_000010.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: USHER SYNDROME, TYPE IF; USH1F

Haploinsufficiency phenotype comments:

Variation in PCDH15 has been reported in individuals with Usher syndrome 1 (USH1) and autosomal recessive nonsyndromic hearing loss (ARNSHL); furthermore, the overall evidence that PCDH15, when altered, can cause USH1 was expert reviewed by the ClinGen Hearing Loss Working Group (HLWG) and classified as DEFINITIVE. The evidence supporting the association between PCDH15 and ARNSHL was classified as MODERATE by the ClinGen HLWG after primary curation.

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