ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000012.11) (NC_000012.12)

Haploinsufficiency phenotype comments:

Variants in PTPRQ have been reported in association with autosomal recessive nonsyndromic hearing loss (ARNSHL). Furthermore, the overall evidence that PTPRQ, when altered, causes ARNSHL 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