IUGR and IGF abnormalities

Gene: EP300

Green List (high evidence)

EP300 (E1A binding protein p300)
EnsemblGeneIds (GRCh38): ENSG00000100393
EnsemblGeneIds (GRCh37): ENSG00000100393
OMIM: 602700, Gene2Phenotype
EP300 is in 5 panels

4 reviews

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Philip Murray (University of Manchester)

Green List (high evidence)

Peter Clayton (University of Manchester)

Green List (high evidence)

emma baple (Genomics England Curator)

Comment on phenotypes: Prenatal growth typically normal, rapid decline in pastnatal growth
3 Apr 2016, 9:09 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Rubenstein Taybi
OMIM
602700
Clinvar variants
Variants in EP300
Penetrance
Complete
Panels with this gene

History

3 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Apr 2016, Gel status: 4

Set Phenotypes

emma baple (Genomics England Curator)

Phenotypes for EP300 were set to Rubenstein Taybi

3 Apr 2016, Gel status: 4

Set Model of Inheritance

emma baple (Genomics England Curator)

Mode of inheritance for EP300 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

3 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

EP300 was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory