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  2. Childhood onset hereditary spastic paraplegia
  3. ATXN10_ATTCT

Childhood onset hereditary spastic paraplegia

STR: ATXN10_ATTCT

Amber List (moderate evidence)
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

4 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). The age of onset of OMIM:603516 can be from 14 years to 46 years (PMID: 17420323; 15505178).
Created: 23 Apr 2025, 2:14 p.m. | Last Modified: 23 Apr 2025, 2:14 p.m.
Panel Version: 7.10

Publications

Created: 23 Apr 2025, 2:14 p.m.
Last Modified: 23 Apr 2025, 2:14 p.m.
Panel version: 7.10

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: 2.130
Created: 15 Mar 2022, 11:44 a.m.
Last Modified: 15 Mar 2022, 11:44 a.m.
Panel version: 2.130

Arianna Tucci (Genomics England Curator)

Onset typically in adulthood, some patients with onset in adolescence (11506407). So far only found in Latin American populations
Created: 25 Feb 2019, 11:48 a.m.
Created: 25 Feb 2019, 11:48 a.m.

Panel version: 1.0

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019. Agreed to change the rating from Green to Amber.
Created: 22 May 2019, 11:08 a.m.
Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 28 Apr 2019, 4:20 p.m.
Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Created: 21 Dec 2018, 1:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 10 603516

Created: 21 Dec 2018, 1:46 p.m.

Panel version: 1.177

Details

Name
ATXN10_ATTCT
Chromosome
22
GRCh37 Coordinates
46191235-46191304
GRCh38 Coordinates
45795355-45795424
Repeated Sequence
ATTCT
Normal Number of Repeats: <
33
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

Added Tag

Sarah Leigh (Genomics England Curator)

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

10 Mar 2022, Gel status: 2

Changed Normal Number of Repeats, Added New Source

Arina Puzriakova (Genomics England Curator)

Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33. Source NHS GMS was added to STR: ATXN10_ATTCT.

5 Nov 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10, OMIM:603516

22 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: atxn10_attct has been classified as Amber List (Moderate Evidence).

28 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: atxn10_attct 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: ATXN10_ATTCT was added STR: ATXN10_ATTCT was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: ATXN10_ATTCT. Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN10_ATTCT were set to Spinocerebellar ataxia 10 603516 Review for STR: ATXN10_ATTCT was set to GREEN