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Adult onset hereditary spastic paraplegia

STR: CACNA1A_CAG

Green List (high evidence)
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

2 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: 1.95
Created: 15 Mar 2022, 12:49 p.m.
Last Modified: 15 Mar 2022, 12:49 p.m.
Panel version: 1.95

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.
Created: 22 May 2019, 12:15 p.m.
Green rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 26 Apr 2019, 1:09 p.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
Sources: Expert list
Created: 26 Apr 2019, 12:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 6 183086

Created: 26 Apr 2019, 12:01 p.m.

Panel version: 0.151

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
  • South West GLH
  • London North GLH
  • Expert Review Green
  • 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: 3

Changed Normal Number of Repeats

Arina Puzriakova (Genomics England Curator)

Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.

8 Nov 2021, Gel status: 3

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

26 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: CACNA1A_CAG.

26 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to STR: CACNA1A_CAG.

26 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: CACNA1A_CAG.

26 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to STR: CACNA1A_CAG. Rating Changed from Red List (low evidence) to Green List (high evidence)

26 Apr 2019, 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 - adult 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