Radial dysplasia

Gene: CREBBP

Red List (low evidence)

CREBBP (CREB binding protein)
EnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 15 panels

2 reviews

Helen Brittain (Genomics England Curator)

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.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 1 Aug 2016, 1:32 p.m.

History Filter Activity

23 May 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 May 2017, Gel status: 0

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for CREBBP were set to Rubinstein-Taybi syndrome 1, 180849

18 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CREBBP was added to Radial dysplasiapanel. Sources: Other

18 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CREBBP was created by rfoulger