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: < or = 18
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 24 panels

1 review

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Created: 5 Dec 2018, 12:43 p.m.

Details

Name
CACNA1A_CAG
Chromosome
19
GRCh37 Coordinates
13318673-13318711
GRCh38 Coordinates
13207859-13207897
Repeated Sequence
CAG
Normal Number of Repeats: < or =
18
Pathogenic Number of Repeats: = or >
20
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Spinocerebellar ataxia 6 183086
Tags
STR
OMIM
601011
Clinvar variants
Variants in CACNA1A
Penetrance
None

History Filter Activity

7 Dec 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6 183086

7 Dec 2018, Gel status: 3

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for STR: CACNA1A_CAG were changed from to Spinocerebellar ataxia 6 183086

5 Dec 2018, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag STR tag was added to STR: CACNA1A_CAG.

5 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

5 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arianna Tucci (Genomics England Curator)

STR: CACNA1A_CAG was added STR: CACNA1A_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STR: CACNA1A_CAG was marked as current diagnostic