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Ataxia and cerebellar anomalies - narrow panel
STR: ATXN10_ATTCT

Chromosome: 22
GRCh37 Position: 46191235-46191304
GRCh38 Position: 45795355-45795424
Repeated Sequence: ATTCT
Normal Number of Repeats: < 33
Pathogenic Number of Repeats: = or > 800

ATXN10 (ataxin 10)
EnsemblGeneIds (GRCh38): ENSG00000130638
EnsemblGeneIds (GRCh37): ENSG00000130638
OMIM: 611150, Gene2Phenotype
ATXN10 is in 0 panels

5 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

There are numerous reports of ATXN10 repeat expansions in cases of Spinocerebellar ataxia 10 (OMIM:603516), especially amongst South American populations (PMID: 12164725;35441258;36199580;40067487).
Created: 23 Apr 2025, 2:06 p.m. | Last Modified: 23 Apr 2025, 2:06 p.m.

Panel Version: 7.27

Created: 23 Apr 2025, 2:06 p.m.
Last Modified: 23 Apr 2025, 2:06 p.m.
Panel version: 7.27

Louise Daugherty (Healx)

Green List (high evidence)

Created: 23 Mar 2022, 6:04 p.m.
Last Modified: 23 Mar 2022, 6:04 p.m.
Panel version: 2.289

Ivone Leong (Genomics England Curator)

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 11:44 a.m. | Last Modified: 15 Mar 2022, 11:44 a.m.

Panel Version: 2.288

Created: 15 Mar 2022, 11:44 a.m.
Last Modified: 15 Mar 2022, 11:44 a.m.
Panel version: 2.288

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Created: 8 Oct 2020, 9:11 a.m. | Last Modified: 8 Oct 2020, 9:11 a.m.

Panel Version: 2.16

Created: 8 Oct 2020, 9:11 a.m.
Last Modified: 8 Oct 2020, 9:11 a.m.
Panel version: 2.16

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Created: 21 Dec 2018, 3:13 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 10 603516

Publications

12164725

Created: 21 Dec 2018, 3:13 p.m.

Panel version: 0.13

Details

Name

ATXN10_ATTCT

Chromosome

GRCh37 Coordinates

46191235-46191304

GRCh38 Coordinates

45795355-45795424

Repeated Sequence

ATTCT

Normal Number of Repeats: <

Pathogenic Number of Repeats: = or >

800

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Amber
Expert list

Phenotypes

Spinocerebellar ataxia 10, OMIM:603516
spinocerebellar ataxia type 10, MONDO:0011330

Tags

STR Q2_25_ promote_green Q2_25_expert_review

OMIM

611150

Clinvar variants

Variants in ATXN10

Penetrance

None

Publications

History Filter Activity

27 May 2025, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_25_expert_review tag was added to STR: ATXN10_ATTCT.

23 Apr 2025, Gel status: 2

Removed Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist was removed from STR: ATXN10_ATTCT. Tag Q2_25_ promote_green tag was added to STR: ATXN10_ATTCT.

23 Apr 2025, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10, OMIM:603516 to Spinocerebellar ataxia 10, OMIM:603516; spinocerebellar ataxia type 10, MONDO:0011330

23 Apr 2025, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for STR: ATXN10_ATTCT were set to 12164725

8 Jun 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from STR: ATXN10_ATTCT.

10 Mar 2022, Gel status: 2