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| Structural eye disease v1.115 | CREBBP |
Ivone Leong Tag Q2_21_rating was removed from gene: CREBBP. Tag Q1_22_NHS_review was removed from gene: CREBBP. |
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| Structural eye disease v1.115 | CREBBP | Ivone Leong commented on gene: CREBBP: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.114 | CREBBP |
Ivone Leong Source Expert Review Green was added to CREBBP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v1.110 | CREBBP | Ivone Leong Publications for gene: CREBBP were set to 25599811 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.109 | CREBBP | Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CREBBP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.101 | CREBBP | Nicola Ragge reviewed gene: CREBBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 25599811, 11004107, 33629314, 19938080, 21480480; Phenotypes: Rubinstein-Taybi syndrome 1 MIM:180849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.63 | CREBBP | Ivone Leong Classified gene: CREBBP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.63 | CREBBP | Ivone Leong Gene: crebbp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.62 | CREBBP |
Ivone Leong 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 Added comment: 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 |
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