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Xp11.23 region (includes MAOA and MAOB) Loss
ISCA-37468-Loss 2

Adult onset dystonia, chorea or related movement disorder
STR: ATXN3_CAG

Chromosome: 14
GRCh37 Position: 92537355-92537396
GRCh38 Position: 92071011-92071052
Repeated Sequence: CAG
Normal Number of Repeats: < 45
Pathogenic Number of Repeats: = or > 60

ATXN3 (ataxin 3)
EnsemblGeneIds (GRCh38): ENSG00000066427
EnsemblGeneIds (GRCh37): ENSG00000066427
OMIM: 607047, Gene2Phenotype
ATXN3 is in 0 panels

4 reviews

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, 4:37 p.m. | Last Modified: 29 Jun 2023, 4:37 p.m.

Panel Version: 3.4

Created: 29 Jun 2023, 4:37 p.m.
Last Modified: 29 Jun 2023, 4:37 p.m.
Panel version: 3.4

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, 1:47 p.m. | Last Modified: 31 Jul 2023, 1:47 p.m.

Panel Version: 3.9

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 11:58 a.m. | Last Modified: 15 Mar 2022, 11:58 a.m.

Panel Version: 1.166

Created: 15 Mar 2022, 11:58 a.m.
Last Modified: 15 Mar 2022, 11:58 a.m.
Panel version: 3.9

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, 10:30 a.m. | Last Modified: 6 Oct 2020, 10:30 a.m.

Panel Version: 1.8

Created: 6 Oct 2020, 10:30 a.m.
Last Modified: 6 Oct 2020, 10:30 a.m.
Panel version: 1.8

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, 3:16 p.m. | Last Modified: 5 Aug 2019, 3:16 p.m.

Panel Version: 0.93

STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STR suggested by Huw and Raquel.
Created: 23 Apr 2019, 1:31 p.m.

Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Created: 11 Jan 2019, 3:51 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Machado-Joseph disease 109150

Created: 11 Jan 2019, 3:51 p.m.

Panel version: 0.93

Details

Name

ATXN3_CAG

Chromosome

GRCh37 Coordinates

92537355-92537396

GRCh38 Coordinates

92071011-92071052

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
NHS GMS
London North GLH
Expert list

Phenotypes

Machado-Joseph disease, OMIM:109150

Tags

STR

OMIM

607047

Clinvar variants

Variants in ATXN3

Penetrance

None

History Filter Activity

31 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Str: atxn3_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: ATXN3_CAG. Tag Q3_23_promote_green was removed from STR: ATXN3_CAG.

29 Jun 2023, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green tag was added to STR: ATXN3_CAG.

8 Jun 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from STR: ATXN3_CAG.

10 Mar 2022, Gel status: 2