ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000004.11) (NC_000004.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

WFS1 is most commonly associated with Wolfran syndrome, an autosomal recessive phenotype (see OMIM #222300). Deletions, nonsense mutations, frameshift mutations, etc., have all been seen in the context of Wolfran syndrome. WFS1 is also associated with two autosomal dominant conditions - Wolfran-like syndrome (see OMIM #614296) and low frequency autosomal dominant hearing loss (see OMIM #600965). Thus far, only missense mutations have been reported in association with these phenotypes. It is believed that the missense mutations associated with the hearing loss phenotype function in a dominant-negative fashion (PMID: 12073007; PMID: 12955714). Additionally only a few mutations have been associated with AD Wolfran-like syndrome; the functional implications of these missense changes are unclear (PMID: 21538838). Reports have also suggested that carriers within Wolfran syndrome families are at an increased risk for psychiatric disease compared to noncarriers (PMID: 15852062, and others).

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

Triplosensitivity phenotype comment:

No reports found regarding triplosensitivity of WFS1.