1. Genes and Genomic Entities
  2. CACNA1B

CACNA1B

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red CACNA1B in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green CACNA1B in DDG2P


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.1
    Latest signed off version: v6.0 (1 May 2024)

    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
    Green CACNA1B in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497