PanelApp (test)
  1. Genes and Genomic Entities
  2. CACNB1:Ensemblv90

CACNB1:Ensemblv90

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber CACNB1 in Mendeliome


Version 1.3802

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 1.112

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

    Amber CACNB1 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Congenital muscular dystrophy MONDO:0020121, CACNB1-related

    Red CACNB1 in Skeletal Muscle Channelopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		2 reviews Not set
    Sources
    • Royal Melbourne Hospital
    • Expert Review Red
    • Expert list
    • Expert Review Red
    Phenotypes
    • ?Malignant hyperthermia susceptibility

    Red CACNB1 in Malignant Hyperthermia Susceptibility


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		2 reviews Unknown
    Sources
    • Royal Melbourne Hospital
    • Expert list
    • Expert Review Red
    • Other
    Phenotypes
    • Malignant hyperthermia susceptibility