Familial rhabdomyosarcoma
Gene: CREBBPEnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 18 panels
1 review
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
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)21st December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Helen Brittain.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for CREBBP were set to Rubinstein-Taybi syndrome 1, 180849
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for CREBBP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Louise Daugherty (Genomics England Curator)CREBBP was added to Familial rhabdomyosarcoma panel. Sources: Literature
Created
Louise Daugherty (Genomics England Curator)CREBBP was created by Louise Daugherty