VWA8

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber VWA8 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa 97, MIM#620422

Amber VWA8 in Retinitis pigmentosa_Autosomal Dominant


Level 2: Ophthalmological disorders
Version 0.57

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Retinitis pigmentosa 97, MIM#620422