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 Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Myofibrillar myopathy 10, OMIM:619040
Amber SVIL in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Myofibrillar myopathy 10, OMIM:619040
    Tags
    • watchlist