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  3. CREBBP
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Glaucoma congenital

Gene: CREBBP

Green List (high evidence)
CREBBP (CREB binding protein)
EnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Glaucoma is a recognised feature of RTS.
Created: 2 Aug 2020, 8:12 a.m. | Last Modified: 2 Aug 2020, 8:12 a.m.
Panel Version: 0.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rubinstein-Taybi syndrome 1, MIM# 180849

Created: 2 Aug 2020, 8:12 a.m.
Last Modified: 2 Aug 2020, 8:12 a.m.
Panel version: 0.10

History Filter Activity

2 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: crebbp has been classified as Green List (High Evidence).

2 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CREBBP were changed from to Rubinstein-Taybi syndrome 1, MIM# 180849

2 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CREBBP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CREBBP was added gene: CREBBP was added to Glaucoma congenital_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CREBBP was set to Unknown