ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000017.10) (NC_000017.11)

Haploinsufficiency phenotype comments:

Wrap53 is a natural antisense transcript of p53 that regulates endogenous p53 mRNA levels and is required for induction of p53 protein by targeting the 5'untranslated region of p53 mRNA [Farnebo, 2009, PMID:19571673] . Pathogenic missense variants in WRAP53 are known to cause Dyskeratosis Congenita type 3, an autosomal recessive condition. Deletions involving WRAP53 are essentially absent in both patient and control populations.

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