1. Genes and Genomic Entities
  2. CACNA1D

CACNA1D

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

8 panels

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

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

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


Version 0.36

review Not set
Sources
  • Expert Review Amber
  • SFARI
Amber CACNA1D in Fetal anomalies


Version 3.157
Latest signed off version: v3.0 (22 Mar 2023)

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 3.87
Latest signed off version: v3.1 (22 Mar 2023)

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
    Red CACNA1D in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Sinoatrial node dysfunction and deafness, 614896
    Green CACNA1D in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.195
    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 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 615474 AD
    • Sinoatrial node dysfunction and deafness 614896 AR
    Green CACNA1D in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    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 615474 AD
    • Sinoatrial node dysfunction and deafness 614896 AR
    Green CACNA1D in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Primary aldosteronism, seizures, and neurologic abnormalities, 615474
    • Sinoatrial node dysfunction and deafness, 614896