Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |