VWA1_HMNMYO_GCGCGGAGCG

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green VWA1_HMNMYO_GCGCGGAGCG STR in Mendeliome


Version 1.4851

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


Level 2: Neurology and neurodevelopmental disorders
Version 1.190

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    • Expert Review Green
    • Literature
    • 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