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 1.23

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
Amber CACNA1H in Congenital myopathy


Level 2: Neurology
Version 7.44
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Red CACNA1H in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    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 9.8
    Latest signed off version: v9.0 (6 May 2026)

    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 10.18
    Latest signed off version: v10.0 (6 May 2026)

    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