1. Genes and Genomic Entities
  2. CACNA1H

CACNA1H

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber CACNA1H in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.23

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
Red CACNA1H in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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 2: Neurology
    Version 8.125
    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 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 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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