Ectodermal dysplasia

Gene: CREBBP

Red List (low evidence)

CREBBP (CREB binding protein)
EnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 19 panels

1 review

Catherine Snow (Genomics England)

I don't know

Comment on list classification: Currently no gene disease association can be found.
Created: 2 Dec 2019, 4:03 p.m. | Last Modified: 2 Dec 2019, 4:03 p.m.
Panel Version: 0.27
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: CREBBP; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 3 Sep 2019, 4:15 p.m. | Last Modified: 3 Sep 2019, 4:15 p.m.
Panel Version: 0.17

History Filter Activity

2 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: crebbp has been classified as Red List (Low Evidence).

3 Sep 2019, Gel status: 2

Set Phenotypes

Catherine Snow (Genomics England)

Phenotypes for gene: CREBBP were changed from to Rubinstein-Taybi syndrome 1, 180849

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: CREBBP was added gene: CREBBP was added to Ectodermal dysplasia. Sources: Expert Review Amber Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown