CACNA1C

calcium voltage-gated channel subunit alpha1 C
OMIM: 114205, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Red CACNA1C in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature
Green CACNA1C in Congenital hyperinsulinism

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert review
Phenotypes
  • non-syndromic congeital hyperinsulinism
  • Timothy syndrome, OMIM:601005
  • Timothy syndrome, MONDO:0010979
  • CACNA1C-related disorder
Green CACNA1C in Hypertrophic cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.7
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • South West GLH
    • Literature
    Phenotypes
    • Hypertrophic cardiomyopathy
    • Timothy syndrome, OMIM:601005
    • Timothy syndrome, MONDO:0010979
    • Long QT syndrome 8, OMIM:618447
    • long qt syndrome 8, MONDO:0032756
    • Brugada syndrome 3, OMIM:611875
    • Brugada syndrome 3, MONDO:0012742
    • CACNA1C-related disorder
    Green CACNA1C in Short QT syndrome


    Version 3.10
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • West Midlands, Oxford and Wessex GLH
    • South West GLH
    • London South GLH
    • North West GLH
    • Brugada syndrome (Version 1.7)
    • UKGTN
    • Expert Review Green
    • Long QT syndrome (Version 1.5)
    • Emory Genetics Laboratory
    • Literature
    Phenotypes
    • Timothy syndrome, OMIM:601005
    • Timothy syndrome, MONDO:0010979
    • Long QT syndrome 8, OMIM:618447
    • long qt syndrome 8, MONDO:0032756
    • Brugada syndrome 3, OMIM:611875
    • Brugada syndrome 3, MONDO:0012742
    • Short QT
    • CACNA1C-related disorder
    Green CACNA1C in Long QT syndrome

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 3.7
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • London South GLH
    • North West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Timothy syndrome, OMIM:601005
    • Timothy syndrome, MONDO:0010979
    • Long QT syndrome 8, OMIM:618447
    • long qt syndrome 8, MONDO:0032756
    • Brugada syndrome 3, OMIM:611875
    • Brugada syndrome 3, MONDO:0012742
    • CACNA1C-related disorder
    Red CACNA1C in Brugada syndrome and cardiac sodium channel disease

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 3.8
    Latest signed off version: v3.2 (22 Mar 2023)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • London South GLH
    • Expert Review Red
    • Expert list
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Brugada syndrome 3, MONDO:0012742
    Green CACNA1C in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Timothy syndrome, OMIM:601005
    • Timothy syndrome, MONDO:0010979
    • Long QT syndrome 8, OMIM:618447
    • long qt syndrome 8, MONDO:0032756
    • Brugada syndrome 3, OMIM:611875
    • Brugada syndrome 3, MONDO:0012742
    • CACNA1C-related disorder
    Green CACNA1C in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Timothy syndrome, OMIM:601005
    • Timothy syndrome, MONDO:0010979
    • CACNA1C-related disorder
    Green CACNA1C in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Timothy syndrome OMIM:601005
    • CACNA1C-related disorder
    Green CACNA1C in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Timothy syndrome, OMIM:601005
    • Timothy syndrome, MONDO:0010979
    • Long QT syndrome 8, OMIM:618447
    • long qt syndrome 8, MONDO:0032756
    • Brugada syndrome 3, OMIM:611875
    • Brugada syndrome 3, MONDO:0012742
    • CACNA1C-related disorder
    Green CACNA1C in Paediatric or syndromic cardiomyopathy


    Version 3.46
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Timothy syndrome, OMIM:601005
    • Timothy syndrome, MONDO:0010979
    • Long QT syndrome 8, OMIM:618447
    • long qt syndrome 8, MONDO:0032756
    • Brugada syndrome 3, OMIM:611875
    • Brugada syndrome 3, MONDO:0012742
    • CACNA1C-related disorder
    Green CACNA1C in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Brugada syndrome 3, 611875
    • Long QT syndrome 8, 618447
    • Timothy syndrome, 601005