PanelApp (stage)
  1. Genes and Genomic Entities
  2. VWA1

VWA1

von Willebrand factor A domain containing 1
OMIM: 611901, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green VWA1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary motor neuropathy

Green VWA1 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.48

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hereditary motor neuropathy

    Green HMNMYO STR in Repeat Disorders


    Version 0.167

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neuropathy, hereditary motor, with myopathic features MIM#619216
    Tags
    • paediatric-onset