| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cone-rod Dystrophy v0.57 | CREB3 | Zornitza Stark Marked gene: CREB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.57 | CREB3 | Zornitza Stark Gene: creb3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.57 | CREB3 | Zornitza Stark Tag founder tag was added to gene: CREB3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.57 | CREB3 | Zornitza Stark Classified gene: CREB3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.57 | CREB3 | Zornitza Stark Gene: creb3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.56 | CREB3 | Zornitza Stark reviewed gene: CREB3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.56 | CREB3 |
Sarah Milton gene: CREB3 was added gene: CREB3 was added to Cone-rod Dystrophy. Sources: Literature Mode of inheritance for gene: CREB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CREB3 were set to PMID: 40674075 Phenotypes for gene: CREB3 were set to Retinal degeneration, MONDO:0004580, CREB3-related Review for gene: CREB3 was set to GREEN Added comment: CREB3 encodes Cyclic AMP response element binding protein-3 which is an endoplasmic reticulum–membrane-bound transcription factor. PMID: 40674075 describes 13 individuals from 4 families with the same homozygous nonsense variant (CREB:c.881G>A|p.Trp294). Affected individuals had retinal degeneration presenting initially with slowly progressive decreased visual acuity – significant variability in age of onset and severity – age 8-65. 2 different haplotypes identified on which the variant was found. Homozygous LOF variants not present in CREB3 in gnomad v4. Functional studies performed only demonstrated that mRNA transcript doesn't undergo NMD and that protein is expressed in retina. No variant specific or downstream effects investigated. Sources: Literature |
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