VWA8:Ensemblv90

von Willebrand factor A domain containing 8
OMIM: 617509, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green VWA8 in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa 97, MIM#620422

Green VWA8 in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 0.225

Component of the following Super Panels:

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

    Green VWA8 in Retinitis pigmentosa_Autosomal Dominant


    Level 2: Ophthalmological disorders
    Version 0.82

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Retinitis pigmentosa 97, MIM#620422