VWA1

von Willebrand factor A domain containing 1
OMIM: 611901, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green VWA1 in Mendeliome


Version 1.4220

1 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 1.77

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hereditary motor neuropathy

    Green VWA1_HMNMYO_GCGCGGAGCG STR in Mendeliome


    Version 1.4220

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

    Green VWA1_HMNMYO_GCGCGGAGCG STR in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.77

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • Neuropathy, hereditary motor, with myopathic features MIM#619216
    Tags
    • paediatric-onset

    Green VWA1_HMNMYO_GCGCGGAGCG STR in Repeat Disorders


    Version 0.272

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