Hereditary neuropathy or pain 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
1 review
Sarah Leigh (Genomics England Curator)
The rating of this STR has been updated to green following NHS Genomic Medicine Service approval.Created: 25 Feb 2025, 10:27 a.m. | Last Modified: 25 Feb 2025, 10:30 a.m.
Panel Version: 6.151
ATXN10_ATTCT has been added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.
Sources: NHS GMSCreated: 21 Oct 2024, 3:50 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ataxia neuropathy syndromes
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
- 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
Sarah Leigh (Genomics England Curator)Str: atxn10_attct has been classified as Green List (High Evidence).
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from STR: ATXN10_ATTCT. Tag Q3_24_NHS_review was removed from STR: ATXN10_ATTCT.
Added Tag
Sarah Leigh (Genomics England Curator)Tag STR tag was added to STR: ATXN10_ATTCT.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for STR: ATXN10_ATTCT were changed from Ataxia neuropathy syndromes to Spinocerebellar ataxia 10, OMIM:603516
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Str: atxn10_attct has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)STR: ATXN10_ATTCT was added STR: ATXN10_ATTCT was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS Q3_24_promote_green, Q3_24_NHS_review 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 Ataxia neuropathy syndromes Review for STR: ATXN10_ATTCT was set to GREEN