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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.175 | CREB3 |
Sarah Milton gene: CREB3 was added gene: CREB3 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. 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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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.125 | RP2 | Zornitza Stark Marked gene: RP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.125 | RP2 | Zornitza Stark Gene: rp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.125 | RP2 | Zornitza Stark Publications for gene: RP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.124 | RP2 | Belinda Chong reviewed gene: RP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9697692, 10053026, 10942419, 11462235, 12417528, 8225316, 26143542; Phenotypes: Retinitis pigmentosa 2 MIM#312600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 | RP2 |
Bryony Thompson gene: RP2 was added gene: RP2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RP2 were set to Retinitis Pigmentosa, X-linked; Retinitis pigmentosa 2, 312600 |
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