1. Genes and Genomic Entities
  2. CACNA1D

CACNA1D

calcium voltage-gated channel subunit alpha1 D
OMIM: 114206, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green CACNA1D in Congenital hyperinsulinism


Level 2: Endocrinology
Version 3.8
Latest signed off version: v3.7 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • hyperinsulinaemic hypoglycaemia, heart defects
  • severe hypotonia
Amber CACNA1D in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.5
Latest signed off version: v7.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474
Green CACNA1D in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 615474
    • SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 614896
    Amber CACNA1D in Monogenic hearing loss


    Level 2: Audiology
    Version 6.4
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Sinoatrial node dysfunction and deafness, OMIM:614896
    • sinoatrial node dysfunction and deafness, MONDO:0013960
    Tags
    • Q2_26_promote_green
    Green CACNA1D in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.1
    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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Literature
    • Literature
    Phenotypes
    • Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474
    • aldosterone-producing adenoma with seizures and neurological abnormalities, MONDO:0014200
    Tags
    • Q2_26_MOI
    Green CACNA1D in Intellectual disability


    Level 2: Developmental disorders
    Version 10.10
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474
    • aldosterone-producing adenoma with seizures and neurological abnormalities, MONDO:0014200
    Tags
    • Q2_26_MOI
    Amber CACNA1D in Cardiac arrhythmias - additional genes


    Level 2: Cardiology
    Version 3.12
    Latest signed off version: v3.11 (6 May 2026)

    Component of the following Super Panels:

  • Cardiac arrhythmias

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Sinoatrial node dysfunction and deafness, OMIM:614896
    • sinoatrial node dysfunction and deafness, MONDO:0013960
    Tags
    • Q2_26_promote_green