Hereditary ataxia

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 23 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Comment on list classification: changed to green as diagnostic for ataxia
Created: 5 Jun 2018, 10:57 a.m.

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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

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
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 6 183086
Tags
STR
OMIM
601011
Clinvar variants
Variants in CACNA1A
Penetrance
None

History Filter Activity

5 Jun 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).

31 May 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: CACNA1A_CAG. Panel: Hereditary ataxia

31 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: CACNA1A_CAG was added to Hereditary ataxia panel. Sources: Expert list

31 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: CACNA1A_CAG was created by Ellen McDonagh