Thoracic dystrophies
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 thoracic dystrophies are not a common feature of OMIM:603516.Created: 23 Apr 2025, 2:32 p.m. | Last Modified: 23 Apr 2025, 2:32 p.m.
Panel Version: 1.21
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: 1.18
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, 5:14 p.m.
Ellen McDonagh (Genomics England Curator)
Comments from Arianna Tucci: expanded repeat alleles are mostly unstable with paternal transmission but remarkably stable with maternal transmission (12164725).Created: 1 Jun 2018, 9:35 a.m.
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 Red
- NHS GMS
- Expert list
- Phenotypes
-
- Spinocerebellar ataxia 10, OMIM:603516
- Tags
- OMIM
- 611150
- Clinvar variants
- Variants in ATXN10
- Penetrance
- None
- Publications
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 Spinocerebellar ataxia 603516 to Spinocerebellar ataxia 10 603516
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia , 603516 to Spinocerebellar ataxia 603516
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Str: atxn10_attct has been removed from the panel.
Added Tag
Ellen McDonagh (Genomics England Curator)STR was added to STR: ATXN10_ATTCT. Panel: Thoracic dystrophies
Added New Source
Ellen McDonagh (Genomics England Curator)STR: ATXN10_ATTCT was added to Thoracic dystrophies panel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)STR: ATXN10_ATTCT was created by Ellen McDonagh