ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000011.9) (NC_000011.10)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype

Haploinsufficiency phenotype comments:

Mutations in USH1C are associated with autosomal recessive nonsyndrome sensorineural hearing loss, DFNB18 (OMIM 602092), and autosomal recessive Usher syndrome, type 1C. There is one report of two consanguinous families with children with Usher syndrome and enteropathy due to homozygous deletions including USH1C and neighboring genes (Bitner-Glindzicz, 2000, PMID: 10973248). Furthermore, the overall evidence that USH1C, when altered has been causes Usher syndrome 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