ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000019.9) (NC_000019.10)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: PERRAULT SYNDROME 3; PRLTS3

Haploinsufficiency phenotype comments:

Variation in CLPP has been reported in individuals with autosomal recessive (AR) Perrault syndrome, which is definted as sensorineural hearing loss (SNHL) in males, and SNHL with premature ovarian failure in females. Additional clinical features have been reported by Jenkinson et al. 2013 23541340. Furthermore, the overall evidence that CLPP, when altered, causes Perrault has been assessed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE.

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