Genes in panel

Ataxia and cerebellar anomalies - narrow panel

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 11 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 42 616795
OMIM
604065
Clinvar variants
Variants in CACNA1G
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

Set mode of pathogenicity, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for gene CACNA1G was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Spinocerebellar ataxia 42 616795 for gene: CACNA1G Publications for gene CACNA1G were changed from to 25558065; 29878067; 17397049; 28726809

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

gene: CACNA1G was added gene: CACNA1G was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene: CACNA1G was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments