1. Genes and Genomic Entities
  2. CACNA1B

CACNA1B

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green CACNA1B in DDG2P


Version 6.426
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS 618497
    Green CACNA1B in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.147
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497
    • Global developmental delay
    • Developmental regression
    • Seizures
    • Intellectual disability
    • Abnormality of movement
    • Progressive Epilepsy-Dyskinesia
    Green CACNA1B in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497
    • Progressive Epilepsy-Dyskinesia
    • Seizures
    • Abnormality of movement
    • Intellectual disability
    • Developmental regression
    • Global developmental delay