Hereditary neuropathy or pain disorder
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
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, 10:31 a.m. | Last Modified: 25 Feb 2025, 10:31 a.m.
Panel Version: 6.152
ATXN2_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.
Sources: NHS GMSCreated: 21 Oct 2024, 4:04 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ataxia neuropathy syndromes
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
- Tags
- OMIM
- 601517
- Clinvar variants
- Variants in ATXN2
- Penetrance
- None
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Str: atxn2_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: ATXN2_CAG. Tag Q3_24_NHS_review was removed from STR: ATXN2_CAG.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for STR: ATXN2_CAG were changed from Ataxia neuropathy syndromes to Spinocerebellar ataxia 2, OMIM:183090
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Str: atxn2_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: ATXN2_CAG was added STR: ATXN2_CAG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS Q3_24_promote_green, Q3_24_NHS_review, STR tags were added to STR: ATXN2_CAG. Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN2_CAG were set to Ataxia neuropathy syndromes Review for STR: ATXN2_CAG was set to GREEN