Retinal disorders
Gene: VWA8Comment 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.Created: 3 Jan 2024, 3:13 p.m. | Last Modified: 3 Jan 2024, 3:13 p.m.
Panel Version: 4.50
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: LiteratureCreated: 16 Nov 2023, 4:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Retinitis pigmentosa 97
Publications
Tag watchlist tag was added to gene: VWA8.
Gene: vwa8 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: VWA8 were changed from ?Retinitis pigmentosa 97 to ?Retinitis pigmentosa 97, OMIM:620422
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