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| Retinal disorders v4.50 | VWA8 | Arina Puzriakova Tag watchlist tag was added to gene: VWA8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.50 | VWA8 | Arina Puzriakova Classified gene: VWA8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.50 | VWA8 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Hannah Knight. A single family (PMID: 37012052) with 11 individuals all presenting initial symptoms of visual defects which later progressed to macular changes, including macular degeneration and dystrophy. Two variants (c.3070G>A;c.4558C>T (p.Gly1024Arg; p.Arg1520Ter)) on the same allele of the VWA8 gene were found to segregate with disease. Expression studies showed reduced protein expression. Zebrafish knockdown model displayed a similar phenotype to that of humans. Although there is only one family reported to date, multi-generational segregation with disease and concordant phenotype in a knockdown zebrafish model supports pathogenicity and therefore rating Amber with a 'watchlist' tag. |
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| Retinal disorders v4.50 | VWA8 | Arina Puzriakova Gene: vwa8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.49 | VWA8 | Arina Puzriakova Phenotypes for gene: VWA8 were changed from ?Retinitis pigmentosa 97 to ?Retinitis pigmentosa 97, OMIM:620422 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.41 | VWA8 |
Hannah Knight gene: VWA8 was added gene: VWA8 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: VWA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VWA8 were set to 37012052 Phenotypes for gene: VWA8 were set to ?Retinitis pigmentosa 97 Review for gene: VWA8 was set to AMBER Added comment: PMID: 37012052 (2023) identified VWA8 as a novel cause of adRP in a four generation family with 11 affected family members. 6 of the affected members appear to have been tested and confirmed to carry the variant, while 5 unaffected members appear to have been confirmed NOT to Sources: Literature |
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