VWA8

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

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber VWA8 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0 (1 May 2024)

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