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Ataxia - adult onset

Gene: CACNA1A

Green List (high evidence)
CACNA1A (calcium voltage-gated channel subunit alpha1 A)
EnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 17 panels

2 reviews

Anna Ritchie (Victorian Clinical Genetics Services)

I don't know

Four newborns, all presenting with hypotonia, mild facial dysmorphic features, encephalopathy, and seizures were born
from consanguineous parents. Testing was only performed on two of the newborns in the family. A novel homozygous nonsense c.2767C>T p.(Arg932*) variant in the exon 19 of the CACNA1A gene (NM_001127221.1). Segregation analysis showed that both parents were heterozygous carriers and they were diagnosed with EA2.
Created: 1 Nov 2021, 4:53 a.m. | Last Modified: 1 Nov 2021, 4:53 a.m.
Panel Version: 0.9572

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 1 Nov 2021, 4:53 a.m.
Last Modified: 1 Nov 2021, 4:53 a.m.
Panel version: Imported from Mendeliome panel version 0.9572

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Ataxia can be caused by a triplet repeat expansion in this gene, which is not detectable with current WES/WGS technologies. However, SNVs have also been reported as disease-causing.
Created: 23 Apr 2020, 4:25 a.m. | Last Modified: 23 Apr 2020, 4:25 a.m.
Panel Version: 0.53
Created: 23 Apr 2020, 4:25 a.m.
Last Modified: 23 Apr 2020, 4:25 a.m.
Panel version: 0.53

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia 6
  • familial hemiplegic migraine type 1, 141500
  • Familial hemiplegic migraine 1, 141500
  • SCA6, 183086
  • episodic ataxia type 2 (EA2),108500
  • Episodic ataxia type 2, 108500
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
  • Episodic ataxia, type 2
Tags
STR
OMIM
601011
Clinvar variants
Variants in CACNA1A
Penetrance
None
Panels with this gene

History Filter Activity

23 Apr 2020, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag STR tag was added to gene: CACNA1A.

23 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cacna1a has been classified as Green List (High Evidence).

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CACNA1A was added gene: CACNA1A was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA1A were set to Spinocerebellar ataxia 6; familial hemiplegic migraine type 1, 141500; Familial hemiplegic migraine 1, 141500; SCA6, 183086; episodic ataxia type 2 (EA2),108500; Episodic ataxia type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; Episodic ataxia, type 2