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  2. Dystonia - complex
  3. CACNA1G
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Dystonia - complex

Gene: CACNA1G

Green List (high evidence)
CACNA1G (calcium voltage-gated channel subunit alpha1 G)
EnsemblGeneIds (GRCh38): ENSG00000006283
EnsemblGeneIds (GRCh37): ENSG00000006283
OMIM: 604065, Gene2Phenotype
CACNA1G is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated individuals reported with variable spasticity, hypertonia, or dystonia of the limbs in addition to intellectual disability and ataxia.
Sources: Expert list
Created: 5 Sep 2020, 4:26 a.m. | Last Modified: 5 Sep 2020, 4:26 a.m.
Panel Version: 0.82

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM# 618087

Publications

Created: 5 Sep 2020, 4:26 a.m.
Last Modified: 5 Sep 2020, 4:26 a.m.
Panel version: 0.81

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM# 618087
OMIM
604065
Clinvar variants
Variants in CACNA1G
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cacna1g has been classified as Green List (High Evidence).

5 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cacna1g has been classified as Green List (High Evidence).

5 Sep 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CACNA1G was added gene: CACNA1G was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1G were set to 29878067 Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM# 618087 Review for gene: CACNA1G was set to GREEN