Hereditary neuropathy
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
3 reviews
Eleanor Williams (Genomics England Curator)
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:15 p.m. | Last Modified: 15 Mar 2022, 12:15 p.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, 12:36 p.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, 12:35 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
- 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
Arina Puzriakova (Genomics England Curator)Str: atxn3_cag has been classified as Green List (High Evidence).
Changed Normal Number of Repeats, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45. Source NHS GMS was added to STR: ATXN3_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease, OMIM:109150
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease 109150
Set Phenotypes
Arianna Tucci (Genomics England Curator)Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease 109150
Set Phenotypes
Arianna Tucci (Genomics England Curator)Phenotypes for STR: ATXN3_CAG were changed from to Machado-Joseph disease 109150
Added Tag
Louise Daugherty (Genomics England Curator)Tag STR tag was added to STR: ATXN3_CAG.
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: atxn3_cag has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: atxn3_cag has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: atxn3_cag has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Arianna Tucci (Genomics England Curator)STR: ATXN3_CAG was added STR: ATXN3_CAG was added to Hereditary neuropathy. Sources: Expert Review Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STR: ATXN3_CAG was marked as current diagnostic