Genes in panel

Prev Next

STRs in panel

Regions in panel

Prev Next

Adult onset neurodegenerative disorder
STR: ATXN1_CAG

Chromosome: 6
GRCh37 Position: 16327867-16327953
GRCh38 Position: 16327636-16327722
Repeated Sequence: CAG
Normal Number of Repeats: < 36
Pathogenic Number of Repeats: = or > 45

ATXN1 (ataxin 1)
EnsemblGeneIds (GRCh38): ENSG00000124788
EnsemblGeneIds (GRCh37): ENSG00000124788
OMIM: 601556, Gene2Phenotype
ATXN1 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, 11:42 a.m. | Last Modified: 15 Mar 2022, 11:42 a.m.

Panel Version: 2.267

Created: 15 Mar 2022, 11:42 a.m.
Last Modified: 15 Mar 2022, 11:42 a.m.
Panel version: 2.267

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Created: 8 Oct 2020, 9:26 a.m. | Last Modified: 8 Oct 2020, 9:26 a.m.

Panel Version: 2.22

Created: 8 Oct 2020, 9:26 a.m.
Last Modified: 8 Oct 2020, 9:26 a.m.
Panel version: 2.22

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.
Created: 23 Jul 2019, 4:51 p.m. | Last Modified: 23 Jul 2019, 4:51 p.m.

Panel Version: 1.75

Green rating inferred from review comment of the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Created: 9 Jul 2019, 10:18 a.m. | Last Modified: 9 Jul 2019, 10:18 a.m.

Panel Version: 1.59

Green rating for STR submitted on behalf of James Polke, also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 24 Apr 2019, 2:27 p.m. | Last Modified: 9 Jul 2019, 10:18 a.m.

Panel Version: 1.59

Source PanelApp panels :Hereditary ataxia v1.150, Hereditary spastic paraplegia v1.143, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Parkinson Disease and Complex Parkinsonism v1.64.
Sources: Expert list
Created: 21 Dec 2018, 10:21 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 1 164400

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

Created: 21 Dec 2018, 10:21 a.m.
Last Modified: 9 Jul 2019, 10:18 a.m.
Panel version: 1.75

Details

Name

ATXN1_CAG

Chromosome

GRCh37 Coordinates

16327867-16327953

GRCh38 Coordinates

16327636-16327722

Repeated Sequence

CAG

Normal Number of Repeats: <

Pathogenic Number of Repeats: = or >

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
NHS GMS
South West GLH
London North GLH
Expert list

Phenotypes

Spinocerebellar ataxia 1, OMIM:164400

Tags

watchlist STR

OMIM

601556

Clinvar variants

Variants in ATXN1

Penetrance

None

History Filter Activity

13 Jul 2023, Gel status: 2

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green was removed from STR: ATXN1_CAG.

29 Jun 2023, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green tag was added to STR: ATXN1_CAG.

8 Jun 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from STR: ATXN1_CAG.

10 Mar 2022, Gel status: 2

Changed Normal Number of Repeats, Changed Pathogenic Number of Repeats

Arina Puzriakova (Genomics England Curator)

Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.

9 Nov 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1, OMIM:164400

9 Nov 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to STR: ATXN1_CAG.

8 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Str: atxn1_cag has been classified as Amber List (Moderate Evidence).

8 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to STR: ATXN1_CAG.

9 Jul 2019, Gel status: 3