Hereditary neuropathy or pain disorder
STR: ATXN1_CAGGRCh37 Position: 16327867-16327953
GRCh38 Position: 16327636-16327722
Repeated Sequence: CAG
Normal Number of Repeats: < 36
Pathogenic Number of Repeats: = or > 45
ATXN1 (ataxin 1)
EnsemblGeneIds (GRCh38): ENSG00000124788
EnsemblGeneIds (GRCh37): ENSG00000124788
OMIM: 601556, Gene2Phenotype
ATXN1 is in 0 panels
4 reviews
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, 10:30 a.m. | Last Modified: 25 Feb 2025, 10:30 a.m.
Panel Version: 6.151
ATXN1_CAG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.Created: 21 Oct 2024, 3:40 p.m. | Last Modified: 21 Oct 2024, 3:40 p.m.
Panel Version: 5.24
Phenotypes
Ataxia neuropathy syndromes
Ivone Leong (Genomics England Curator)
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:41 a.m. | Last Modified: 15 Mar 2022, 11:41 a.m.
Panel Version: 1.441
Louise Daugherty (Genomics England Curator)
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.Created: 29 Apr 2019, 9:47 a.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, 10:51 a.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, 10:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this STR are reported as part of current diagnostic practice
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Details
- Name
- ATXN1_CAG
- Chromosome
- 6
- GRCh37 Coordinates
- 16327867-16327953
- GRCh38 Coordinates
- 16327636-16327722
- Repeated Sequence
- CAG
- Normal Number of Repeats: <
- 36
- Pathogenic Number of Repeats: = or >
- 45
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Spinocerebellar ataxia 1, OMIM:164400
- Tags
- OMIM
- 601556
- Clinvar variants
- Variants in ATXN1
- Penetrance
- None
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Str: atxn1_cag 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: ATXN1_CAG. Tag Q3_24_NHS_review was removed from STR: ATXN1_CAG.
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_NHS_review tag was added to STR: ATXN1_CAG.
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to STR: ATXN1_CAG.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Str: atxn1_cag 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: ATXN1_CAG was added STR: ATXN1_CAG was added to Hereditary neuropathy or pain disorder. Sources: Expert Review Green,NHS GMS STR tags were added to STR: ATXN1_CAG. Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1, OMIM:164400