1. Genes and Genomic Entities
  2. CACNA1G

CACNA1G

calcium voltage-gated channel subunit alpha1 G
OMIM: 604065, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green CACNA1G in Ataxia and cerebellar anomalies - narrow panel


Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Spinocerebellar ataxia 42 616795
    Green CACNA1G in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 42, 61679
    Red CACNA1G in Autism


    Version 0.36

    		review Not set
    Sources
    • Expert Review Red
    • SFARI
    Green CACNA1G in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.73

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 42 616795
    Tags
    • missense
    Green CACNA1G in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Spinocerebellar ataxia 42, OMIM:616795
    Green CACNA1G in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087
    Green CACNA1G in DDG2P


    Version 3.87
    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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION
    • CACNA1G-related developmental disorder (monoallelic)
    Green CACNA1G in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 42 616795
    Tags
    • missense
    Green CACNA1G in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    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
    • Expert Review Green
    Phenotypes
    • Spinocerebellar ataxia 42 616795
    • Cerebellar atrophy, epilepsy, intellectual disability
    Green CACNA1G in Hereditary ataxia with onset in adulthood


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellar ataxia 42, 616795
    • early-onset SCA42 with neurodevelopmental deficits, 618087
    Green CACNA1G in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 618087
    • Spinocerebellar ataxia 42 616795
    Green CACNA1G in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 42, 616795
    • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087