CACNA1H

calcium voltage-gated channel subunit alpha1 H
OMIM: 607904, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber CACNA1H in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.20

Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Hyperaldosteronism, familial, type IV 617027
    • {Epilepsy, childhood absence, susceptibility to, 6} 611942
    • {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942

    Amber CACNA1H in Autism


    Version 0.22

    review Not set
    Sources
    • Expert Review Amber
    • SFARI

    Red CACNA1H in DDG2P


    Version 2.78
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 611942

    Amber CACNA1H in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.572
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Expert
    • Literature
    Phenotypes
    • Hyperaldosteronism, familial, type IV 617027
    • {Epilepsy, childhood absence, susceptibility to, 6} 611942
    • {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942

    Red CACNA1H in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    Phenotypes
    • Hyperaldosteronism, familial, type IV 617027
    • {Epilepsy, childhood absence, susceptibility to, 6} 611942
    • {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942