Ataxia and cerebellar anomalies - narrow panel
Gene: CACNA1GEnsemblGeneIds (GRCh38): ENSG00000006283
EnsemblGeneIds (GRCh37): ENSG00000006283
OMIM: 604065, Gene2Phenotype
CACNA1G is in 10 panels
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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
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Cerebellar hypoplasia
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Adult onset neurodegenerative disorder
History Filter Activity
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.
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
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