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Adult onset neurodegenerative disorder
STR: ATN1_CAG

Chromosome: 12
GRCh37 Position: 7045880-7045936
GRCh38 Position: 6936717-6936772
Repeated Sequence: CAG
Normal Number of Repeats: < 36
Pathogenic Number of Repeats: = or > 48

ATN1 (atrophin 1)
EnsemblGeneIds (GRCh38): ENSG00000111676
EnsemblGeneIds (GRCh37): ENSG00000111676
OMIM: 607462, Gene2Phenotype
ATN1 is in 0 panels

5 reviews

Eleanor Williams (Genomics England Curator)

The rating of this STR has been updated to green after review of STRs on panels that have moved to WGS in phase 2 and NHS Genomic Medicine Service approval.
Created: 31 Jul 2023, 1:51 p.m. | Last Modified: 31 Jul 2023, 1:51 p.m.

Panel Version: 4.32

Created: 31 Jul 2023, 1:51 p.m.
Last Modified: 31 Jul 2023, 1:51 p.m.
Panel version: 4.32

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.
Created: 29 Jun 2023, 4 p.m. | Last Modified: 29 Jun 2023, 4 p.m.

Panel Version: 4.28

Created: 29 Jun 2023, 4 p.m.
Last Modified: 29 Jun 2023, 4 p.m.
Panel version: 4.28

Ivone Leong (Genomics England Curator)

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 11:39 a.m. | Last Modified: 15 Mar 2022, 11:39 a.m.

Panel Version: 2.267

Created: 15 Mar 2022, 11:39 a.m.
Last Modified: 15 Mar 2022, 11:39 a.m.
Panel version: 2.267

Arina Puzriakova (Genomics England Curator)

Comment on list classification: This STR has been temporarily downgraded from Green to Amber, and will be repromoted when this clinical indication moves to WGS.
Created: 6 Oct 2020, 10:35 a.m. | Last Modified: 6 Oct 2020, 10:35 a.m.

Panel Version: 2.18

Created: 6 Oct 2020, 10:35 a.m.
Last Modified: 6 Oct 2020, 10:35 a.m.
Panel version: 2.18

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, 4:50 p.m. | Last Modified: 23 Jul 2019, 4:50 p.m.

Panel Version: 1.75

Green rating inferred from review comment on 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, 10:16 a.m. | Last Modified: 9 Jul 2019, 10:16 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, 2:05 p.m. | Last Modified: 9 Jul 2019, 10:16 a.m.

Panel Version: 1.59

Source PanelApp panels : Hereditary ataxia v1.150, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Brain channelopathy v1.48, Parkinson Disease and Complex Parkinsonism v1.64.
Sources: Expert list
Created: 21 Dec 2018, 10:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dentatorubro-pallidoluysian atrophy 125370

Publications

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

Created: 21 Dec 2018, 10:30 a.m.
Last Modified: 9 Jul 2019, 10:16 a.m.
Panel version: 1.75

Details

Name

ATN1_CAG

Chromosome

GRCh37 Coordinates

7045880-7045936

GRCh38 Coordinates

6936717-6936772

Repeated Sequence

CAG

Normal Number of Repeats: <

Pathogenic Number of Repeats: = or >

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Yorkshire and North East GLH
NHS GMS
South West GLH
London North GLH
Expert list

Phenotypes

Dentatorubral-pallidoluysian atrophy, OMIM:125370

Tags

STR

OMIM

607462

Clinvar variants

Variants in ATN1

Penetrance

None

Publications

History Filter Activity

31 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Str: atn1_cag has been classified as Green List (High Evidence).

31 Jul 2023, Gel status: 2

Removed Tag, Removed Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist was removed from STR: ATN1_CAG. Tag Q3_23_promote_green was removed from STR: ATN1_CAG.

29 Jun 2023, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green tag was added to STR: ATN1_CAG.

10 Mar 2022, Gel status: 2

Changed Normal Number of Repeats

Arina Puzriakova (Genomics England Curator)

Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.

5 Nov 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to STR: ATN1_CAG.

5 Nov 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370

20 Jan 2021, Gel status: 2

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from STR: ATN1_CAG.

20 Jan 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to STR: ATN1_CAG.

6 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Str: atn1_cag has been classified as Amber List (Moderate Evidence).

23 Jul 2019, Gel status: 3