PanelApp
  1. Genes and Genomic Entities
  2. CACNA1G

CACNA1G

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green CACNA1G in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.92

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

Green CACNA1G in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.405

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087

Green CACNA1G in Mendeliome


Version 1.3795

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087

Green CACNA1G in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.307

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087

    Green CACNA1G in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.497

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087

    Green CACNA1G in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.158

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits MIM#618087

    Green CACNA1G in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.290

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM# 618087

    Amber CACNA1G in Fetal anomalies


    Version 1.481

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087