Skeletal dysplasia
Gene: CREBBP
Brachydactylies (with extraskeletal manifestations) gp of SD. 16p13.3 microdeletions and mutations in the gene.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rubinstein-Taybi syndrome 180849
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: CREBBP; Initial rating suggestion: GreenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 1 Aug 2016, 1:32 p.m.
Added phenotypes Rubinstein-Taybi syndrome 180849 for gene: CREBBP
Source NHS GMS was added to CREBBP. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for CREBBP were set to Rubinstein-Taybi syndrome 180849
Mode of inheritance for CREBBP was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
CREBBP was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
CREBBP was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory CREBBP was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red
CREBBP was added to Unexplained skeletal dysplasiapanel. Sources:
CREBBP was created by sleigh