ClinGen Dosage Sensitivity Curation Page

USH1G

  • Curation Status: Complete

Location Information

Select assembly: (NC_000017.10) (NC_000017.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: USHER SYNDROME, TYPE IG; USH1G

Haploinsufficiency phenotype comments:

Variants in USH1G have been reported in association with Usher syndrome type 1 (USH1), an autosomal recessive condition. Furthermore, the overall evidence that USH1G, when altered, causes USH1 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