Adult onset neurodegenerative disorder
STR: CACNA1A_CAG

Chromosome: 19
GRCh37 Position: 13318673-13318711
GRCh38 Position: 13207859-13207897
Repeated Sequence: CAG
Normal Number of Repeats: < 19
Pathogenic Number of Repeats: = or > 20

CACNA1A (calcium voltage-gated channel subunit alpha1 A)
EnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 0 panels

5 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

There are numerous reports of CACNA1A_CAG repeat expansions in cases of Spinocerebellar ataxia 6 (OMIM: 183086)(PMID: 18285829;19817876;16595610;8988170). The age of onset of OMIM: 183086 is typically 20-65 years (PMID: 9311738).
Created: 23 Apr 2025, 2:51 p.m. | Last Modified: 23 Apr 2025, 2:53 p.m.

Panel Version: 7.22

Created: 23 Apr 2025, 2:51 p.m.
Last Modified: 23 Apr 2025, 2:53 p.m.
Panel version: 7.22

Louise Daugherty (Healx)

Green List (high evidence)

Created: 23 Mar 2022, 6:23 p.m.
Last Modified: 23 Mar 2022, 6:23 p.m.
Panel version: 2.268

Eleanor Williams (Genomics England Curator)

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 12:50 p.m. | Last Modified: 15 Mar 2022, 12:50 p.m.

Panel Version: 2.267

Created: 15 Mar 2022, 12:50 p.m.
Last Modified: 15 Mar 2022, 12:50 p.m.
Panel version: 2.267

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Created: 8 Oct 2020, 9:28 a.m. | Last Modified: 8 Oct 2020, 9:28 a.m.

Panel Version: 2.26

Created: 8 Oct 2020, 9:28 a.m.
Last Modified: 8 Oct 2020, 9:28 a.m.
Panel version: 2.26

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment: Age of onset 20-65 years
Created: 23 Jul 2019, 4:53 p.m. | Last Modified: 23 Jul 2019, 4:53 p.m.

Panel Version: 1.75

Source PanelApp panels : Hereditary ataxia v1.148, Brain channelopathy v1.46, Hereditary spastic paraplegia v1.141.
Sources: Expert list
Created: 20 Dec 2018, 4:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 6 183086

Variants in this STR are reported as part of current diagnostic practice

Created: 20 Dec 2018, 4:22 p.m.

Panel version: 1.75

Details

Name

CACNA1A_CAG

Chromosome

GRCh37 Coordinates

13318673-13318711

GRCh38 Coordinates

13207859-13207897

Repeated Sequence

CAG

Normal Number of Repeats: <

Pathogenic Number of Repeats: = or >

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Amber
Yorkshire and North East GLH
Expert list

Phenotypes

Spinocerebellar ataxia 6, OMIM:183086
spinocerebellar ataxia type 6, MONDO:0008457

Tags

STR Q2_25_ promote_green Q2_25_expert_review

OMIM

601011

Clinvar variants

Variants in CACNA1A

Penetrance

None

Publications