Ectodermal dysplasia
Gene: CREBBP
CREBBP (CREB binding protein)
EnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 18 panels
1 review
Catherine Snow (Genomics England)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Rubinstein-Taybi syndrome 1, 180849
- OMIM
- 600140
- Clinvar variants
- Variants in CREBBP
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- DDG2P
- Sarcoma cancer susceptibility
- Intellectual disability
- Monogenic short stature
- Familial Hirschsprung Disease
- Osteogenesis imperfecta
- Ectodermal dysplasia
- Familial rhabdomyosarcoma
- Sarcoma susceptibility
- IUGR and IGF abnormalities
- Structural eye disease
- Fetal anomalies
- Severe microcephaly
- Glaucoma (developmental)
- Skeletal dysplasia
- Radial dysplasia
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