CACNA1B

calcium voltage-gated channel subunit alpha1 B
OMIM: 601012, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red CACNA1B in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM#618497

Green CACNA1B in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497

Green CACNA1B in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497

    Green CACNA1B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497

    Red CACNA1B in Dystonia - isolated/combined


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.37

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Other
    Phenotypes
    • Myoclonus-dystonia syndrome MONDO:0000903