1. Genes and Genomic Entities
  2. CAPN3

CAPN3

calpain 3
OMIM: 114240, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red CAPN3 in Arthrogryposis


Level 2: Neurology
Version 9.31
Latest signed off version: v9.0 (30 Apr 2025)

review Not set
Sources
  • Expert Review Red
  • Expert list
Green CAPN3 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


Level 2: Neurology
Version 5.39
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600
    • Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129