Skeletal dysplasia
Gene: CREBBPEnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 18 panels
3 reviews
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, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rubinstein-Taybi syndrome 180849
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CREBBP; Initial rating suggestion: GreenCreated: 6 Mar 2019, 11:36 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 1 Aug 2016, 1:32 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Emory Genetics Laboratory
- Phenotypes
-
- Rubinstein-Taybi syndrome 180849
- Rubinstein-Taybi syndrome 180849
- OMIM
- 600140
- Clinvar variants
- Variants in CREBBP
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Sarcoma cancer susceptibility
- Monogenic short stature
- Familial Hirschsprung Disease
- Osteogenesis imperfecta
- Ectodermal dysplasia
- Familial rhabdomyosarcoma
- Sarcoma susceptibility
- IUGR and IGF abnormalities
- Structural eye disease
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Severe microcephaly
- Glaucoma (developmental)
- Radial dysplasia
- Intellectual disability
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Rubinstein-Taybi syndrome 180849 for gene: CREBBP
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to CREBBP. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CREBBP were set to Rubinstein-Taybi syndrome 180849
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for CREBBP was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)CREBBP was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)CREBBP was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory CREBBP was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red
Added New Source
Sarah Leigh (Genomics England Curator)CREBBP was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)CREBBP was created by sleigh