Childhood onset hereditary spastic paraplegia
STR: CACNA1A_CAGGRCh37 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
4 reviews
Sarah Leigh (Genomics England Curator)
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), therefore, CACNA1A_CAG has been rated as red on this panel.Created: 23 Apr 2025, 3 p.m. | Last Modified: 23 Apr 2025, 3 p.m.
Panel Version: 7.11
Eleanor Williams (Genomics England Curator)
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:49 p.m. | Last Modified: 15 Mar 2022, 12:49 p.m.
Panel Version: 2.130
Arianna Tucci (Genomics England Curator)
typically more ataxia than spasticityCreated: 26 Feb 2019, 11:19 a.m.
Louise Daugherty (Genomics England Curator)
Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May Agreed to change the rating from Green to Amber.Created: 22 May 2019, 11:36 a.m.
Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.Created: 28 Apr 2019, 4:21 p.m.
Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert listCreated: 21 Dec 2018, 2:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 6 183086
Details
- Name
- CACNA1A_CAG
- Chromosome
- 19
- GRCh37 Coordinates
- 13318673-13318711
- GRCh38 Coordinates
- 13207859-13207897
- Repeated Sequence
- CAG
- Normal Number of Repeats: <
- 19
- Pathogenic Number of Repeats: = or >
- 20
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Amber
- Expert list
- Phenotypes
-
- Spinocerebellar ataxia 6, OMIM:183086
- Tags
- OMIM
- 601011
- Clinvar variants
- Variants in CACNA1A
- Penetrance
- None
- Publications
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for STR: CACNA1A_CAG were set to
Changed Normal Number of Repeats, Added New Source
Arina Puzriakova (Genomics England Curator)Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19. Source NHS GMS was added to STR: CACNA1A_CAG.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6, OMIM:183086
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Str: cacna1a_cag has been classified as Amber List (Moderate Evidence).
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Source PanelApp panels : Hered
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Str: cacna1a_cag has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)STR: CACNA1A_CAG was added STR: CACNA1A_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: CACNA1A_CAG. Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086 Review for STR: CACNA1A_CAG was set to GREEN