ClinGen Dosage Sensitivity Curation Page

IRF6

  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)

Haploinsufficiency phenotype comments:

Loss of function mutations and deletions are associated with Van der Woude syndrome.

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