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  3. ATXN2_CAG
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Childhood onset dystonia, chorea or related movement disorder

STR: ATXN2_CAG

Green List (high evidence)
Chromosome: 12
GRCh37 Position: 112036755-112036823
GRCh38 Position: 111598951-111599019
Repeated Sequence: CAG
Normal Number of Repeats: < 32
Pathogenic Number of Repeats: = or > 35

ATXN2 (ataxin 2)
EnsemblGeneIds (GRCh38): ENSG00000204842
EnsemblGeneIds (GRCh37): ENSG00000204842
OMIM: 601517, Gene2Phenotype
ATXN2 is in 0 panels

2 reviews

Ivone Leong (Genomics England Curator)

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 11:46 a.m. | Last Modified: 15 Mar 2022, 11:46 a.m.
Panel Version: 1.217
Created: 15 Mar 2022, 11:46 a.m.
Last Modified: 15 Mar 2022, 11:46 a.m.
Panel version: 1.217

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

New STR submitted and discussed with GLHs for the GMS Neurology Specialist Test Group, who agreed that there is sufficient evidence to rate this STR Green on this panel.
Sources: Expert list
Created: 1 Oct 2020, 1:08 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 2, 183090

Variants in this STR are reported as part of current diagnostic practice

Created: 1 Oct 2020, 1:08 p.m.

Panel version: 1.52

Details

Name
ATXN2_CAG
Chromosome
12
GRCh37 Coordinates
112036755-112036823
GRCh38 Coordinates
111598951-111599019
Repeated Sequence
CAG
Normal Number of Repeats: <
32
Pathogenic Number of Repeats: = or >
35
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 2, OMIM:183090
  • {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Tags
STR
OMIM
601517
Clinvar variants
Variants in ATXN2
Penetrance
None

History Filter Activity

10 Mar 2022, Gel status: 3

Changed Normal Number of Repeats, Changed Pathogenic Number of Repeats, Added New Source

Arina Puzriakova (Genomics England Curator)

Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35. Source NHS GMS was added to STR: ATXN2_CAG.

5 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2, 183090 to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090

1 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Str: atxn2_cag has been classified as Green List (High Evidence).

1 Oct 2020, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

STR: ATXN2_CAG was added STR: ATXN2_CAG was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list STR tags were added to STR: ATXN2_CAG. Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2, 183090 Review for STR: ATXN2_CAG was set to GREEN STR: ATXN2_CAG was marked as current diagnostic