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  3. EP300
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Hand and foot malformations

Gene: EP300

Green List (high evidence)
EP300 (E1A binding protein p300)
EnsemblGeneIds (GRCh38): ENSG00000100393
EnsemblGeneIds (GRCh37): ENSG00000100393
OMIM: 602700, Gene2Phenotype
EP300 is in 11 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Limb anomalies are a feature of Rubinstein-Taybi syndrome
Created: 22 Sep 2021, 10:08 p.m. | Last Modified: 22 Sep 2021, 10:08 p.m.
Panel Version: 0.17
Created: 22 Sep 2021, 10:08 p.m.
Last Modified: 22 Sep 2021, 10:08 p.m.
Panel version: 0.17

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Only 2 Menke-Hennekam syndrome reported (Gln1824Pro and Arg1831del)

LOF established, DN also a suggested mechanism
Created: 18 Jun 2021, 4:48 a.m. | Last Modified: 18 Jun 2021, 4:48 a.m.
Panel Version: 0.8065

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Rubinstein-Taybi syndrome 2 MIM#613684; Menke-Hennekam syndrome 2 MIM#618333; Colorectal cancer, somatic MIM#114500

Publications

Created: 18 Jun 2021, 4:48 a.m.
Last Modified: 18 Jun 2021, 4:48 a.m.
Panel version: Imported from Mendeliome panel version 0.8065

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Rubinstein-Taybi syndrome 180849
OMIM
602700
Clinvar variants
Variants in EP300
Penetrance
None
Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ep300 has been classified as Green List (High Evidence).

22 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ep300 has been classified as Green List (High Evidence).

22 Sep 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: EP300 was added gene: EP300 was added to Hand and foot malformation. Sources: Expert list Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EP300 were set to Rubinstein-Taybi syndrome 180849