Radial dysplasiaGene: CREBBP
Comment when marking as ready: Causation clear. Phenotype not in keeping with radial dysplasia panel. Broad thumbs are a feature, which is not considered useful within the broad differential.
Created: 11 May 2017, 11:51 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 1 Aug 2016, 1:32 p.m.
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
This gene has been classified as Red List (Low Evidence).
Phenotypes for CREBBP were set to Rubinstein-Taybi syndrome 1, 180849
CREBBP was added to Radial dysplasiapanel. Sources: Other
CREBBP was created by rfoulger