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Amyotrophic lateral sclerosis/motor neuron disease

STR: ATXN2_CAG

No list
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

3 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: 1.56
Created: 15 Mar 2022, 11:46 a.m.
Last Modified: 15 Mar 2022, 11:46 a.m.
Panel version: 1.56

Louise Daugherty (Genomics England Curator)

Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Created: 5 Dec 2018, 5:45 p.m.
Created: 5 Dec 2018, 5:45 p.m.

Panel version: 1.23

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comments from Arianna Tucci: Paternal transmission of expanded alleles more unstable.
Created: 31 May 2018, 2:09 p.m.

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

Created: 31 May 2018, 2:09 p.m.

Panel version: 1.13

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 Removed
  • Expert list
Phenotypes
  • {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Tags
STR curated_removed
OMIM
601517
Clinvar variants
Variants in ATXN2
Penetrance
None

History Filter Activity

10 Mar 2022, Gel status: 0

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: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

1 Mar 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to STR: ATXN2_CAG.

5 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: atxn2_cag has been removed from the panel.

31 May 2018, Gel status: 1

Changed GRCh37, Changed GRCh38

Ellen McDonagh (Genomics England Curator)

GRCh37 position for ATXN2_CAG was changed from 111881289-112037480 to 112036755-112036823. Panel: Amyotrophic lateral sclerosis/motor neuron disease GRCh38 position for ATXN2_CAG was changed from 111443485-111599676 to 111598951-111599019. Panel: Amyotrophic lateral sclerosis/motor neuron disease

31 May 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: ATXN2_CAG. Panel: Amyotrophic lateral sclerosis/motor neuron disease

31 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: ATXN2_CAG was added to Amyotrophic lateral sclerosis/motor neuron disease panel. Sources: Expert list

31 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: ATXN2_CAG was created by Ellen McDonagh