Structural eye disease

Gene: CREBBP

Green List (high evidence)

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 RTS

Created: 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

• 25599811
• 11004107
• 33629314
• 19938080
• 21480480

Green List (high evidence)

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: Literature

Created: 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

• 25599811