Hereditary neuropathy
STR: ATXN2_CAGGRCh37 Position: 112036755-112036823
GRCh38 Position: 111598951-111599019
Repeated Sequence: CAG
Normal Number of Repeats: < 32
Pathogenic Number of Repeats: = or > 35
ATXN2 (ataxin 2)
EnsemblGeneIds (GRCh38): ENSG00000204842
EnsemblGeneIds (GRCh37): ENSG00000204842
OMIM: 601517, Gene2Phenotype
ATXN2 is in 0 panels
3 reviews
Ivone Leong (Genomics England Curator)
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:47 a.m. | Last Modified: 15 Mar 2022, 11:47 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, 9:48 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, 12:15 p.m.
Sources: Expert ReviewCreated: 5 Dec 2018, 12:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this STR are reported as part of current diagnostic practice
Details
- Name
- ATXN2_CAG
- Chromosome
- 12
- GRCh37 Coordinates
- 112036755-112036823
- GRCh38 Coordinates
- 111598951-111599019
- Repeated Sequence
- CAG
- Normal Number of Repeats: <
- 32
- Pathogenic Number of Repeats: = or >
- 35
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Spinocerebellar ataxia 2, OMIM:183090
- {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
- Tags
- OMIM
- 601517
- Clinvar variants
- Variants in ATXN2
- Penetrance
- None
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Str: atxn2_cag has been classified as Green List (High Evidence).
Changed Normal Number of Repeats, Changed Pathogenic Number of Repeats, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35. Source NHS GMS was added to STR: ATXN2_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2 183090
Set Phenotypes
Arianna Tucci (Genomics England Curator)Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090
Added Tag
Louise Daugherty (Genomics England Curator)Tag STR tag was added to STR: ATXN2_CAG.
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: atxn2_cag has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: atxn2_cag has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Arianna Tucci (Genomics England Curator)STR: ATXN2_CAG was added STR: ATXN2_CAG was added to Hereditary neuropathy. Sources: Expert Review Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for STR: ATXN2_CAG was set to GREEN STR: ATXN2_CAG was marked as current diagnostic