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| Mendeliome v1.942 | VWA8 | Zornitza Stark Phenotypes for gene: VWA8 were changed from Retinitis pigmentosa (MONDO:0019200), VWA8-related to Retinitis pigmentosa 97, MIM#620422 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.941 | VWA8 | Zornitza Stark reviewed gene: VWA8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 97, MIM#620422; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.792 | VWA8 | Zornitza Stark Marked gene: VWA8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.792 | VWA8 | Zornitza Stark Gene: vwa8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.792 | VWA8 | Zornitza Stark Classified gene: VWA8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.792 | VWA8 | Zornitza Stark Gene: vwa8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.781 | VWA8 |
Dean Phelan gene: VWA8 was added gene: VWA8 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: VWA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VWA8 were set to PMID: 37012052 Phenotypes for gene: VWA8 were set to Retinitis pigmentosa (MONDO:0019200), VWA8-related Review for gene: VWA8 was set to AMBER Added comment: PMID: 37012052 - Single family with 11 affected patients, 9 - 87y, all presented initial symptoms of night blindness, visual field defects and reduced visual acuity later, macular changes, including macular degeneration and dystrophy. A heterozygous two-loci variant in VWA8 c.3070G>A;c.4558C>T (p.Gly1024Arg; p.Arg1520Ter) was identified and segregated with disease. Expression studies showed reduced protein expression. Zebrafish knockout model displayed an RP phenotype. Sources: Literature |
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