ClinGen Dosage Sensitivity Curation Page

CLRN1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000003.11) (NC_000003.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype

Haploinsufficiency phenotype comments:

Variants in CLRN1 have been reported in association with Usher syndrome type 3 (USH3), an autosomal recessive condition. Furthermore, the overall evidence that CLRN1, when altered, causes USH3 has been expert reviewed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE

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