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  2. IUGR and IGF abnormalities
  3. EP300
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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 10 panels

4 reviews

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Philip Murray (University of Manchester)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Peter Clayton (University of Manchester)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

emma baple (Genomics England Curator)

Comment on phenotypes: Prenatal growth typically normal, rapid decline in pastnatal growth
Created: 3 Apr 2016, 8:09 p.m.
Created: 3 Apr 2016, 8:09 p.m.

Panel version: 0.71

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 Filter Activity

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 Mode 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