Structural eye disease
Gene: CREBBP
Milani et al. 2015 report in review paper that coloboma occurs in about 10% of individuals with Rubinstein-Taybi syndrome (RTS), however, her references refer to old papers that have not linked the cases to CREBBP (note that EP300 is also a RTS gene). Developmental Glaucoma however is also a feature of RTS. Huang et al. 2021 report RTS case with glaucoma and denovo stopgain variant. Wieczorek et al. 2009 describe another RTS case with glaucoma and a stopgain variant - segregation not mentioned. Rosaki et al. describe twins with RTS one of which has glaucoma, with a het deletion of CREBBP. There are multiple older reports without analysis of CREBBP linking glaucoma to RTSCreated: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rubinstein-Taybi syndrome 1 MIM:180849
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:54 a.m. | Last Modified: 8 Mar 2022, 10:54 a.m.
Panel Version: 1.115
This gene is Green on Glaucoma (developmental) (Version 1.27).
"Glaucoma is a feature of this syndrome. Sources: Expert list
Zornitza Stark (Australian Genomics), 2 Aug 2020"
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be given a Green rating at the next review.
Sources: LiteratureCreated: 16 Apr 2021, 2:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rubinstein-Taybi syndrome 1, OMIM:180849
Publications
Tag Q2_21_rating was removed from gene: CREBBP. Tag Q1_22_NHS_review was removed from gene: CREBBP.
Source Expert Review Green was added to CREBBP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: CREBBP were set to 25599811
Tag Q1_22_NHS_review tag was added to gene: CREBBP.
Gene: crebbp has been classified as Amber List (Moderate Evidence).
gene: CREBBP was added gene: CREBBP was added to Structural eye disease. Sources: Literature Q2_21_rating tags were added to gene: CREBBP. Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CREBBP were set to 25599811 Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 1, OMIM:180849 Review for gene: CREBBP was set to GREEN