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  2. Ataxia - paediatric
  3. CACNA1G
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Ataxia - paediatric

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Onset of ataxia is soon after birth or in early infancy.
Sources: Expert list
Created: 16 Apr 2020, 10:54 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 16 Apr 2020, 10:54 p.m.

Panel version: 0.91

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated patients reported with intellectual disability as well as ataxia phenotype and heterozygous variants in this gene.
Sources: Expert list
Created: 25 Nov 2019, 6:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 25 Nov 2019, 6:32 a.m.

Panel version: Imported from Mendeliome panel version Imported from Intellectual Disability syndromic and nonsyndromic_VCGS panel version 0.62

Details

Mode of Inheritance
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
OMIM
604065
Clinvar variants
Variants in CACNA1G
Penetrance
None
Panels with this gene

History Filter Activity

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

16 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CACNA1G was added gene: CACNA1G was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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