EP300 E1A binding protein p300

Gene info

Synonyms

p300, KAT3B

Previous symbol

None

External ID

HGNC: 3373
Entrez Gene: 2033
Ensembl: ENSG00000100393
UCSC: uc003azl.6
OMIM: 602700
UniProtKB: Q09472

Disease info

CHD Phenotype

  • Ventricular septal defect
  • Patent foramen ovale
  • Patent ductus arteriosus

Extra Cardiac Phenotype

Dysmorphic facies, Microcephaly, Neurodevelopmental dysorder, Failure to thrive, Hypospadias, Hirsutism, scoliosis, digit deformities

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Mice homozygotes for targeted null mutations have CHD

MGI ID

Variant info

Clinvar

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for EP300: BED file

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Selected References

  1. Woods, S. A., Robinson, H. B., Kohler, L. J., Agamanolis, D., Sterbenz, G., & Khalifa, M. (2013). Exome sequencing identifies a novelEP300frame shift mutation in a patient with features that overlap cornelia de lange syndrome. American Journal of Medical Genetics Part A, 164(1), 251–258. DOI:10.1002/ajmg.a.36237 PMID:24352918
  2. Bartsch, O., Labonté, J., Albrecht, B., Wieczorek, D., Lechno, S., Zechner, U., & Haaf, T. (2009). Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. American Journal of Medical Genetics Part A, 152A(1), 181–184. DOI:10.1002/ajmg.a.33153 PMID:20014264
  3. Negri, G., Milani, D., Colapietro, P., Forzano, F., Della Monica, M., Rusconi, D., … Gervasini, C. (2014). Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of theEP300gene. Clinical Genetics, 87(2), 148–154. DOI:10.1111/cge.12348 PMID:24476420
  4. Bartholdi, D., Roelfsema, J. H., Papadia, F., Breuning, M. H., Niedrist, D., Hennekam, R. C., … Peters, D. J. M. (2007). Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. Journal of Medical Genetics, 44(5), 327–333. DOI:10.1136/jmg.2006.046698 PMID:17220215