CACNB1

calcium voltage-gated channel auxiliary subunit beta 1
OMIM: 114207, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red CACNB1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
  • Expert Review Red
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Malignant hyperthermia susceptibility, MONDO:0800188, CACNB1-related

Red CACNB1 in Skeletal Muscle Channelopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • review Not set
    Sources
    • Expert Review Red
    • Expert list
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • ?Malignant hyperthermia susceptibility

    Red CACNB1 in Malignant Hyperthermia Susceptibility


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.8

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • review Unknown
    Sources
    • Other
    • Expert Review Red
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • Malignant hyperthermia susceptibility