This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal 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
Tracy Lester (Genetics laboratory, Oxford UK)
Brachydactylies (with extraskeletal manifestations) gp of SD. 16p13.3 microdeletions and mutations in the gene.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rubinstein-Taybi syndrome 180849
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Rubinstein-Taybi syndrome 180849
- OMIM
- 600140
- Clinvar variants
- Variants in CREBBP
- Penetrance
- None
- Panels with this gene
-
- Sarcoma cancer susceptibility
- Severe microcephaly
- Ectodermal dysplasia
- Structural eye disease
- Skeletal dysplasia
- Monogenic short stature
- Familial Hirschsprung Disease
- Familial rhabdomyosarcoma
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Intellectual disability
- IUGR and IGF abnormalities
- Early onset or syndromic epilepsy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Radial dysplasia
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: CREBBP was added gene: CREBBP was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 180849