Skeletal dysplasiaGene: EP300
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
Rubinstein-Taybi syndrome 180849
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.
Gene: ep300 has been classified as Red List (Low Evidence).
Added phenotypes Rubinstein-Taybi syndrome 180849 for gene: EP300
Source NHS GMS was added to EP300.
Promoted to version 1 9th August 2016
EP300 was created by sleigh
EP300 was added to Unexplained skeletal dysplasiapanel. Sources: