CACNB1

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber CACNB1 in Mendeliome


Version 1.3512

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Congenital muscular dystrophy MONDO:0020121
  • Malignant hyperthermia susceptibility, MONDO:0800188, CACNB1-related

Amber CACNB1 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Congenital muscular dystrophy MONDO:0020121, 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
  • 2 reviews 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
  • 2 reviews Unknown
    Sources
    • Other
    • Expert Review Red
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • Malignant hyperthermia susceptibility