Adult onset neurodegenerative disorder
STR: ATXN10_ATTCTGRCh37 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)
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: 7.22
Publications
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: 2.267
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 GroupCreated: 8 Oct 2020, 9:26 a.m. | Last Modified: 8 Oct 2020, 9:26 a.m.
Panel Version: 2.21
Louise Daugherty (Genomics England Curator)
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 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, 10:17 a.m. | Last Modified: 9 Jul 2019, 10:17 a.m.
Panel Version: 1.59
Green rating for STR submitted on behalf of James Polke on behalf of London North GLH for GMS Neurology specialist test group.Created: 24 Apr 2019, 2:33 p.m. | Last Modified: 9 Jul 2019, 10:17 a.m.
Panel Version: 1.59
Source PanelApp panels :Hereditary spastic paraplegia v1.143, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Hereditary ataxia v1.150
Sources: Expert listCreated: 21 Dec 2018, 10:26 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 10 603516
Variants in this STR are reported as part of current diagnostic practice
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
-
- Expert Review Amber
- NHS GMS
- South West GLH
- London North GLH
- Expert list
- Phenotypes
-
- Spinocerebellar ataxia 10, OMIM:603516
- spinocerebellar ataxia type 10, MONDO:0011330
- Tags
- OMIM
- 611150
- Clinvar variants
- Variants in ATXN10
- Penetrance
- None
- Publications
History Filter Activity
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.
Set publications
Sarah Leigh (Genomics England Curator)Publications for STR: ATXN10_ATTCT were set to 12164725; 35441258; 36199580; 40067487
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
Set publications
Sarah Leigh (Genomics England Curator)Publications for STR: ATXN10_ATTCT were set to
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_23_promote_green was removed from STR: ATXN10_ATTCT.
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_23_promote_green tag was added to STR: ATXN10_ATTCT.
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from STR: ATXN10_ATTCT.
Changed Normal Number of Repeats
Arina Puzriakova (Genomics England Curator)Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
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
Added Tag
Arina Puzriakova (Genomics England Curator)Tag watchlist tag was added to STR: ATXN10_ATTCT.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Str: atxn10_attct has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to STR: ATXN10_ATTCT.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to STR: ATXN10_ATTCT.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to STR: ATXN10_ATTCT.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to STR: ATXN10_ATTCT.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Source PanelApp panels :Heredi
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Str: atxn10_attct has been classified as Green List (High Evidence).
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 Neurodegenerative disorders - adult 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