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  3. EP300
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Structural eye disease

Gene: EP300

Red List (low evidence)
EP300 (E1A binding protein p300)
EnsemblGeneIds (GRCh38): ENSG00000100393
EnsemblGeneIds (GRCh37): ENSG00000100393
OMIM: 602700, Gene2Phenotype
EP300 is in 10 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Promoting from grey to red as 1 case with a structural eye phenotype reported
Created: 9 Sep 2022, 11:17 p.m. | Last Modified: 9 Sep 2022, 11:17 p.m.
Panel Version: 1.137
As reviewer notes PMID: 26279656 (Masuda et al 2015) reports the first case of a patient with a denovo EP300 1bp deletion variant (resulting in a frameshift) and a phenotype that includes ocular coloboma as well as an imperforate anus.
Created: 9 Sep 2022, 11:14 p.m. | Last Modified: 9 Sep 2022, 11:14 p.m.
Panel Version: 1.132
Created: 9 Sep 2022, 11:14 p.m.
Last Modified: 9 Sep 2022, 11:14 p.m.
Panel version: 1.132

Samantha Malka (Moorfields Eye Hospital)

Red List (low evidence)

One reported case of Rubinstein-Taybi syndrome 2 with an EP300 genetic diagnosis, having a phenotype including coloboma.
Sources: Literature
Created: 2 Sep 2022, 11:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rubinstein-Taybi syndrome 2

Publications

Mode of pathogenicity
Other

Created: 2 Sep 2022, 11:04 a.m.

Panel version: 1.132

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Rubinstein-Taybi syndrome 2, OMIM:613684
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, MONDO:0013364
OMIM
602700
Clinvar variants
Variants in EP300
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

9 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

9 Sep 2022, Gel status: 0

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: EP300 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

9 Sep 2022, Gel status: 0

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: EP300 were changed from Rubinstein-Taybi syndrome 2 to Rubinstein-Taybi syndrome 2, OMIM:613684; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, MONDO:0013364

9 Sep 2022, Gel status: 0

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: EP300 were set to PMID: 26279656

9 Sep 2022, Gel status: 0

Set mode of pathogenicity

Eleanor Williams (Genomics England Curator)

Mode of pathogenicity for gene: EP300 was changed from Other to None

2 Sep 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Samantha Malka (Moorfields Eye Hospital)

gene: EP300 was added gene: EP300 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EP300 were set to PMID: 26279656 Phenotypes for gene: EP300 were set to Rubinstein-Taybi syndrome 2 Penetrance for gene: EP300 were set to unknown Mode of pathogenicity for gene: EP300 was set to Other Review for gene: EP300 was set to RED