IUGR and IGF abnormalities
Gene: CREBBPEnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 18 panels
4 reviews
Mehul Dattani (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
emma baple (Genomics England Curator)
Comment on phenotypes: Prenatal growth often normal, but rapid decline postnatallyCreated: 3 Apr 2016, 8:08 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Rubenstein Taybi
- OMIM
- 600140
- Clinvar variants
- Variants in CREBBP
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Sarcoma cancer susceptibility
- Skeletal dysplasia
- Osteogenesis imperfecta
- Familial Hirschsprung Disease
- Ectodermal dysplasia
- Familial rhabdomyosarcoma
- Severe microcephaly
- Sarcoma susceptibility
- Monogenic short stature
- Fetal anomalies
- Structural eye disease
- IUGR and IGF abnormalities
- Early onset or syndromic epilepsy
- DDG2P
- Glaucoma (developmental)
- Radial dysplasia
- Intellectual disability
History Filter Activity
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for CREBBP were set to Rubenstein Taybi
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for CREBBP was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()CREBBP was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory