Hereditary neuropathy or pain disorder
STR: ATXN3_CAGGRCh37 Position: 92537355-92537396
GRCh38 Position: 92071011-92071052
Repeated Sequence: CAG
Normal Number of Repeats: < 45
Pathogenic Number of Repeats: = or > 60
ATXN3 (ataxin 3)
EnsemblGeneIds (GRCh38): ENSG00000066427
EnsemblGeneIds (GRCh37): ENSG00000066427
OMIM: 607047, Gene2Phenotype
ATXN3 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, 10:32 a.m. | Last Modified: 25 Feb 2025, 10:32 a.m.
Panel Version: 6.153
ATXN3_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, 4:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ataxia neuropathy syndromes
Details
- Name
- ATXN3_CAG
- Chromosome
- 14
- GRCh37 Coordinates
- 92537355-92537396
- GRCh38 Coordinates
- 92071011-92071052
- Repeated Sequence
- CAG
- Normal Number of Repeats: <
- 45
- Pathogenic Number of Repeats: = or >
- 60
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Machado-Joseph disease, OMIM:109150
- Tags
- OMIM
- 607047
- Clinvar variants
- Variants in ATXN3
- Penetrance
- None
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Str: atxn3_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: ATXN3_CAG. Tag Q3_24_NHS_review was removed from STR: ATXN3_CAG.
Added Tag
Sarah Leigh (Genomics England Curator)Gene was set to ATXN3.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for STR: ATXN3_CAG were changed from Ataxia neuropathy syndromes to Machado-Joseph disease, OMIM:109150
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Str: atxn3_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: ATXN3_CAG was added STR: ATXN3_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: ATXN3_CAG. Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN3_CAG were set to Ataxia neuropathy syndromes Review for STR: ATXN3_CAG was set to GREEN