PanelApp
  1. Genes and Genomic Entities
  2. SVIL

SVIL

supervillin
OMIM: 604126, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber SVIL in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.17

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 Hypertrophic cardiomyopathy


    Level 2: Cardiovascular disorders
    Version 1.25

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

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

    Amber SVIL in Mendeliome


    Version 1.4541

    		3 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 1.65

    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)