Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Glaucoma (developmental) v1.27 CREBBP Ivone Leong Classified gene: CREBBP as Green List (high evidence)
Glaucoma (developmental) v1.27 CREBBP Ivone Leong Added comment: 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.
Glaucoma (developmental) v1.27 CREBBP Ivone Leong Gene: crebbp has been classified as Green List (High Evidence).
Glaucoma (developmental) v1.26 CREBBP Ivone Leong Publications for gene: CREBBP were set to
Glaucoma (developmental) v1.25 CREBBP Ivone Leong Phenotypes for gene: CREBBP were changed from Rubinstein Taybi syndrome to Rubinstein-Taybi syndrome 1, OMIM:180849
Glaucoma (developmental) v1.8 CREBBP Zornitza Stark 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
Added comment: Glaucoma is a feature of this syndrome.
Sources: Expert list