1. Genes and Genomic Entities
  2. VWA8

VWA8

von Willebrand factor A domain containing 8
OMIM: 617509, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red VWA8 in Intellectual disability


Level 2: Developmental disorders
Version 11.25
Latest signed off version: v11.0 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    Amber VWA8 in Retinal disorders


    Level 2: Ophthalmology
    Version 9.19
    Latest signed off version: v9.14 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Retinitis pigmentosa 97, OMIM:620422
    • retinitis pigmentosa 97, MONDO:0957314
    Tags
    • Q3_26_promote_green