Monogenic short stature
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
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Rubenstein Taybi
- OMIM
- 600140
- Clinvar variants
- Variants in CREBBP
- Penetrance
- None
- Panels with this gene
-
- Monogenic short stature
- Severe microcephaly
- Sarcoma cancer susceptibility
- Osteogenesis imperfecta
- Familial Hirschsprung Disease
- Familial rhabdomyosarcoma
- Skeletal dysplasia
- Intellectual disability
- Sarcoma susceptibility
- DDG2P
- Primary immunodeficiency or monogenic inflammatory bowel disease
- IUGR and IGF abnormalities
- Fetal anomalies
- Ectodermal dysplasia
- Early onset or syndromic epilepsy
- Glaucoma (developmental)
- Structural eye disease
- Radial dysplasia
History Filter Activity
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: CREBBP was added gene: CREBBP was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CREBBP were set to Rubenstein Taybi