Sarcoma cancer susceptibility
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
2 reviews
Ellen McDonagh (Genomics England Curator)
This gene was added to this panel after feedback from Laura King (Great Ormond Street Hospital, London) to include genes from the Familial rhabdomyosarcoma gene panel (code 290 version 1.4) and the Inherited predisposition to GIST gene panel (code 523, version 0.20). The highest rating for this gene from these two panels was Red, as captured here in this review.Created: 13 Mar 2019, 2:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rubinstein-Taybi syndrome 1, 180849
Helen Brittain (Genomics England Curator)
Causation is clear re Rubinstein-Taybi syndrome, however this would be expected to present in a syndromic manner prior to any tumour development. It is estimated that 5% of people with RTS develop a malignancy, a minority of which will be rhabdomyosarcomas. Therefore on balance, unlikely to be of benefit on a primary rhabdomyosarcoma panel.Created: 21 Dec 2017, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rubinstein-Taybi syndrome 1, 180849
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Literature
- 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
13 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CREBBP was added gene: CREBBP was added to Sarcoma pertinent cancer susceptibility. Sources: Literature,Expert Review Red Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 1, 180849