PanelApp (test)
  1. Genes and Genomic Entities
  2. SVIL

SVIL

supervillin
OMIM: 604126, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber SVIL in Mendeliome


Version 1.1902

review 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 1.27

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Other
    • Expert Review Amber
    • Literature
    Phenotypes
    • Myofibrillar myopathy 10 (MIM#619040)