Glaucoma (developmental)
Gene: CREBBPEnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 18 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been given a Green rating.Created: 16 Apr 2021, 1:59 p.m. | Last Modified: 16 Apr 2021, 1:59 p.m.
Panel Version: 1.27
Zornitza Stark (Australian Genomics)
Glaucoma is a feature of this syndrome.
Sources: Expert listCreated: 2 Aug 2020, 9:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rubinstein Taybi syndrome
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Rubinstein-Taybi syndrome 1, OMIM:180849
- OMIM
- 600140
- Clinvar variants
- Variants in CREBBP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Sarcoma cancer susceptibility
- Fetal anomalies
- 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
- Severe microcephaly
- Glaucoma (developmental)
- Radial dysplasia
- Intellectual disability
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: crebbp has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: CREBBP were set to
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CREBBP were changed from Rubinstein Taybi syndrome to Rubinstein-Taybi syndrome 1, OMIM:180849
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: CREBBP was added gene: CREBBP was added to Glaucoma (developmental). Sources: Expert list Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CREBBP were set to Rubinstein Taybi syndrome Review for gene: CREBBP was set to GREEN gene: CREBBP was marked as current diagnostic