Glaucoma (developmental)
Gene: CREBBPComment 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
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
Gene: crebbp has been classified as Green List (High Evidence).
Publications for gene: CREBBP were set to
Phenotypes for gene: CREBBP were changed from Rubinstein Taybi syndrome to Rubinstein-Taybi syndrome 1, OMIM:180849
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