ClinGen Dosage Sensitivity Curation Page

EP300

  • Curation Status: Complete

Location Information

Select assembly: (NC_000022.10) (NC_000022.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
15706485 Roelfsema et al (2005) reported 3 patients with Rubinstein-Taybi syndrome with de novo loss of function mutations, including one nonsense, one frameshift, and one deletion of exon 1. All resulted in loss of the HAT domain.
19353645 Foley et al (2009) reported a patient with mild Rubinstein-Taybi syndrome with a de novo deletion of exons 3-8.

Haploinsufficiency phenotype comments:

Several loss of function mutations, including exonic deletions, frameshift, and nonsense mutations, are catalogued in the LOVD EP300 mutation database. These are associated with Rubinstein-Taybi syndrome and may cause a milder phenotype than mutations in CREBBP. See GeneReviews. Additional case reports include PMIDs 20717166 and 17299436.

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