Early onset dystonia
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). However, it would appear that dystonia is not a common feature of OMIM:603516.Created: 23 Apr 2025, 2:29 p.m. | Last Modified: 23 Apr 2025, 2:29 p.m.
Panel Version: 1.148
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: 1.111
Louise Daugherty (Genomics England Curator)
Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.Created: 5 Dec 2018, 5:16 p.m.
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR resultsCreated: 5 Dec 2018, 1:10 p.m.
Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert ReviewCreated: 5 Dec 2018, 1:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 Red
- NHS GMS
- Phenotypes
-
- Spinocerebellar ataxia 10, OMIM:603516
- Tags
- OMIM
- 611150
- Clinvar variants
- Variants in ATXN10
- Penetrance
- None
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag curated_removed was removed from STR: ATXN10_ATTCT.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Str: atxn10_attct has been classified as Red List (Low Evidence).
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.
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 curated_removed tag was added to STR: ATXN10_ATTCT.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for STR: ATXN10_ATTCT were changed from to Spinocerebellar ataxia 10 603516
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Str: atxn10_attct has been removed from the panel.
Added Tag
Louise Daugherty (Genomics England Curator)Tag STR tag was added to STR: ATXN10_ATTCT.
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: atxn10_attct has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: atxn10_attct has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: atxn10_attct has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: atxn10_attct has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Arianna Tucci (Genomics England Curator)STR: ATXN10_ATTCT was added STR: ATXN10_ATTCT was added to Early onset dystonia. Sources: Expert Review Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted