ClinGen Dosage Sensitivity Curation Page

OTOF

  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)

Haploinsufficiency phenotype comments:

Variation in OTOF has been reported in individuals with ARNSHL that is typically prelingual or congenital deafness; furthermore, the overall evidence that OTOF, when altered, causes ARNSHL has been expert reviewed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE.

  • Triplosensitivity score: Not yet evaluated
  • Strength of Evidence (disclaimer): Not yet evaluated