1. Panels
  2. Retinitis pigmentosa_Autosomal Dominant
  3. VWA8
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinitis pigmentosa_Autosomal Dominant

Gene: VWA8

Amber List (moderate evidence)
VWA8 (von Willebrand factor A domain containing 8)
EnsemblGeneIds (GRCh38): ENSG00000102763
EnsemblGeneIds (GRCh37): ENSG00000102763
OMIM: 617509, Gene2Phenotype
VWA8 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 97, MIM#620422

Created: 16 Jun 2023, 3:11 p.m.
Last Modified: 16 Jun 2023, 3:11 p.m.
Panel version: 0.56

Dean Phelan (Victorian Clinical Genetics Services)

I don't know

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
Created: 6 Apr 2023, 2:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa (MONDO:0019200), VWA8-related

Publications

Created: 6 Apr 2023, 2:50 a.m.

Panel version: 0.55

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Retinitis pigmentosa 97, MIM#620422
OMIM
617509
Clinvar variants
Variants in VWA8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jun 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VWA8 were changed from Retinitis pigmentosa (MONDO:0019200), VWA8-related to Retinitis pigmentosa 97, MIM#620422

6 Apr 2023, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: vwa8 has been classified as Amber List (Moderate Evidence).

6 Apr 2023, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: vwa8 has been classified as Amber List (Moderate Evidence).

6 Apr 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Dean Phelan (Victorian Clinical Genetics Services)

gene: VWA8 was added gene: VWA8 was added to Retinitis pigmentosa_Autosomal Dominant. 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