ClinGen Dosage Sensitivity Curation Page
EP300
- Curation Status: Complete
- id: ISCA-21306
- Date last evaluated: 2013-03-14
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about EP300 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/2033
- OMIM: https://omim.org/entry/602700
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1526/?term=EP300
- ClinGen Haploinsufficiency Score: 3
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 1.0
Select assembly:
(NC_000022.10)
(NC_000022.11)
- Haploinsufficiency score: 3
- Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity
- Haploinsufficiency Phenotype: RUBINSTEIN-TAYBI SYNDROME 2; RSTS2
| 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