Severe microcephaly
Gene: CREBBPEnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 18 panels
3 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Green expert review plus >3 cases of CREBBP mutations causing Rubinstein-Taybi syndrome.Created: 6 Feb 2017, 5:16 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 6 Feb 2017, 5:16 p.m.
Comment on list classification: Updated rating from Red to Green: 1 Green expert review plus >3 cases of CREBBP mutations causing Rubinstein-Taybi syndrome, which includes microcephaly as a phenotype.Created: 6 Feb 2017, 5:12 p.m.
emma baple (South West GMC)
Can be small at birthCreated: 6 Feb 2017, 5 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Other
- Phenotypes
-
- Rubinstein-Taybi syndrome, 180849 (microcephaly)
- OMIM
- 600140
- Clinvar variants
- Variants in CREBBP
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- DDG2P
- Sarcoma cancer susceptibility
- Intellectual disability
- Monogenic short stature
- Familial Hirschsprung Disease
- Osteogenesis imperfecta
- Ectodermal dysplasia
- Familial rhabdomyosarcoma
- Sarcoma susceptibility
- IUGR and IGF abnormalities
- Structural eye disease
- Fetal anomalies
- Severe microcephaly
- Glaucoma (developmental)
- Skeletal dysplasia
- Radial dysplasia
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CREBBP.
panel promoted to version 1
Rebecca Foulger (Genomics England curator)2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for CREBBP was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)CREBBP was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)CREBBP was created by rfoulger