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Hereditary ataxia - adult onset

STR: ATXN2_CAG

Green List (high evidence)

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

ATXN2 (ataxin 2)
EnsemblGeneIds (GRCh38): ENSG00000204842
EnsemblGeneIds (GRCh37): ENSG00000204842
OMIM: 601517, Gene2Phenotype
ATXN2 is in 16 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, 11:47 a.m. | Last Modified: 15 Mar 2022, 11:47 a.m.
Panel Version: 2.147

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Created: 5 Aug 2019, 3:10 p.m. | Last Modified: 5 Aug 2019, 3:10 p.m.
Panel Version: 1.194
Green rating for STR submitted on behalf of James Polke, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 27 Apr 2019, 9:33 p.m. | Last Modified: 7 Jul 2019, 3:40 p.m.
Panel Version: 1.174
Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert list
Created: 21 Dec 2018, 12:40 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 2 183090

Details

Name
ATXN2_CAG
Chromosome
12
GRCh37 Coordinates
112036755-112036823
GRCh38 Coordinates
111598951-111599019
Repeated Sequence
CAG
Normal Number of Repeats: < or =
32
Pathogenic Number of Repeats: = or >
35
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 2, 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

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.

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

7 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: ATXN2_CAG.

7 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: ATXN2_CAG.

7 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to STR: ATXN2_CAG.

9 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Source PanelApp panels : Hered

21 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

21 Dec 2018, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

STR: ATXN2_CAG was added STR: ATXN2_CAG was added to Hereditary ataxia - adult onset. 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