Structural eye disease
Gene: EP300Comment on list classification: Promoting from grey to red as 1 case with a structural eye phenotype reportedCreated: 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
One reported case of Rubinstein-Taybi syndrome 2 with an EP300 genetic diagnosis, having a phenotype including coloboma.
Sources: LiteratureCreated: 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
Gene: ep300 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: EP300 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Publications for gene: EP300 were set to PMID: 26279656
Mode of pathogenicity for gene: EP300 was changed from Other to None
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