ClinGen Dosage Sensitivity Curation Page

HIRA

  • Curation Status: Complete

Location Information

Select assembly: (NC_000022.10) (NC_000022.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

HIRA is located within the 22q11.2 critical region, and is considered a candidate gene for some of the DiGeorge syndrome phenotypes, but no mutations of HIRA alone have been reported in humans.

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