Hereditary spastic paraplegia - childhood onset

STR: CACNA1A_CAG

Amber List (moderate evidence)

Chromosome: 19
GRCh37 Position: 13318673-13318711
GRCh38 Position: 13207859-13207897
Repeated Sequence: CAG
Normal Number of Repeats: < or = 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 25 panels

3 reviews

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)

I don't know

typically more ataxia than spasticity
Created: 26 Feb 2019, 11:19 a.m.

Louise Daugherty (Genomics England Curator)

I don't know

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 list
Created: 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: < or =
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
STR
OMIM
601011
Clinvar variants
Variants in CACNA1A
Penetrance
None

History Filter Activity

10 Mar 2022, Gel status: 2

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.

8 Nov 2021, Gel status: 2

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

22 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: cacna1a_cag has been classified as Amber List (Moderate Evidence).

28 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Source PanelApp panels : Hered

21 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: cacna1a_cag has been classified as Green List (High Evidence).

21 Dec 2018, Gel status: 1

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