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Skeletal dysplasia

Gene: EP300

Red List (low evidence)

EP300 (E1A binding protein p300)
EnsemblGeneIds (GRCh38): ENSG00000100393
EnsemblGeneIds (GRCh37): ENSG00000100393
OMIM: 602700, Gene2Phenotype
EP300 is in 9 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Brachydactylies (with extraskeletal manifestations) gp of SD, several cases reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rubinstein-Taybi syndrome 180849

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Keeping red for now. Associated with Rubinstein-Taybi syndrome. Mainly minor digital phenotype
Created: 11 Dec 2019, 5:20 p.m. | Last Modified: 11 Dec 2019, 5:20 p.m.
Panel Version: 1.286
Associated with Rubinstein-Taybi syndrome 2 #613684 (AD) in OMIM with Broad thumbs, Square distal fingertips, Syndactyly (in some patients) and Broad great toes listed as skeletal clinical features.

Heterozygous mutations reported in > 3 cases in OMIM.
Created: 20 Nov 2019, 11:19 p.m. | Last Modified: 20 Nov 2019, 11:19 p.m.
Panel Version: 1.221
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: EP300; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Details

Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Rubinstein-Taybi syndrome 180849
  • Rubinstein Taybi syndrome
OMIM
602700
Clinvar variants
Variants in EP300
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ep300 has been classified as Red List (Low Evidence).

6 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Rubinstein-Taybi syndrome 180849 for gene: EP300

6 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to EP300.

9 Aug 2016, Gel status: 0

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

EP300 was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

EP300 was added to Unexplained skeletal dysplasiapanel. Sources: