1. Genes and Genomic Entities
  2. CACNA1H

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 1.21

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 0.36

    		review Not set
    Sources
    • Expert Review Amber
    • SFARI
    Red CACNA1H in DDG2P


    Version 3.88
    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 Red
    Phenotypes
    • EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 611942
    Amber CACNA1H in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.196
    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 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    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
    • 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