Hereditary spastic paraplegia
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
2 reviews
Eleanor Williams (Genomics England Curator)
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:16 p.m. | Last Modified: 15 Mar 2022, 12:16 p.m.
Panel Version: 1.289
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, 12:29 p.m.
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 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).
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 spastic paraplegia. 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