SVIL

supervillin
OMIM: 604126, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SVIL in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Myofibrillar myopathy, MIM#619040

    Amber SVIL in Mendeliome


    Version 1.3795

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Myofibrillar myopathy, MIM#619040

    Amber SVIL in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Other
    • Expert Review Amber
    • Literature
    Phenotypes
    • Myofibrillar myopathy 10 (MIM#619040)