Osteogenesis imperfecta
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
3 reviews
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Chris Boustred (Genomics England)
Comment when marking as ready: Keep as red because of disagreement between expert reviewersCreated: 10 May 2016, 12:47 p.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Proportionate Short Stature/Small for Gestational Age
- OMIM
- 600140
- Clinvar variants
- Variants in CREBBP
- Penetrance
- Complete
- Panels with this gene
-
- Severe microcephaly
- Sarcoma cancer susceptibility
- Ectodermal dysplasia
- Intellectual disability
- Familial Hirschsprung Disease
- Structural eye disease
- Familial rhabdomyosarcoma
- Fetal anomalies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Skeletal dysplasia
- Sarcoma susceptibility
- Osteogenesis imperfecta
- IUGR and IGF abnormalities
- Monogenic short stature
- DDG2P
- Glaucoma (developmental)
- Early onset or syndromic epilepsy
- Radial dysplasia
History Filter Activity
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Red List (Low Evidence).
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CREBBP was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory