Adult onset hereditary spastic paraplegia
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
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, 1:53 p.m. | Last Modified: 31 Jul 2023, 1:53 p.m.
Panel Version: 3.14
Sarah Leigh (Genomics England Curator)
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, 4:40 p.m. | Last Modified: 29 Jun 2023, 4:40 p.m.
Panel Version: 3.10
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: 1.95
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, 10:38 a.m. | Last Modified: 6 Oct 2020, 10:38 a.m.
Panel Version: 1.9
Louise Daugherty (Genomics England Curator)
STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.Created: 22 May 2019, 12:06 p.m.
Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment: str. I'm not convinved NGS (illumina) has diagnostic utility to call an expansion > 800ATTCT repeats?Created: 26 Apr 2019, 1:07 p.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
Sources: Expert listCreated: 26 Apr 2019, 11:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 10 603516
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 Green
- NHS GMS
- South West GLH
- London North GLH
- Expert list
- Phenotypes
-
- Spinocerebellar ataxia 10, OMIM:603516
- Tags
- OMIM
- 611150
- Clinvar variants
- Variants in ATXN10
- Penetrance
- None
History Filter Activity
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Str: atxn10_attct has been classified as Green List (High Evidence).
Removed Tag, Removed Tag
Eleanor Williams (Genomics England Curator)Tag watchlist was removed from STR: ATXN10_ATTCT. 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.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review 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 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.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to STR: ATXN10_ATTCT. Rating Changed from Red List (low evidence) to 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 Hereditary spastic paraplegia - 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