Retinal disorders
Gene: VWA8EnsemblGeneIds (GRCh38): ENSG00000102763
EnsemblGeneIds (GRCh37): ENSG00000102763
OMIM: 617509, Gene2Phenotype
VWA8 is in 1 panel
2 reviews
Arina Puzriakova (Genomics England Curator)
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.Created: 3 Jan 2024, 3:13 p.m. | Last Modified: 3 Jan 2024, 3:13 p.m.
Panel Version: 4.50
Hannah Knight (NIHR BioResource - University of Cambridge)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- ?Retinitis pigmentosa 97, OMIM:620422
- Tags
- OMIM
- 617509
- Clinvar variants
- Variants in VWA8
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag watchlist tag was added to gene: VWA8.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: vwa8 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: VWA8 were changed from ?Retinitis pigmentosa 97 to ?Retinitis pigmentosa 97, OMIM:620422
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Hannah Knight (NIHR BioResource - University of Cambridge)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