Hereditary ataxia with onset in adulthood
Gene: ATXN3EnsemblGeneIds (GRCh38): ENSG00000066427
EnsemblGeneIds (GRCh37): ENSG00000066427
OMIM: 607047, Gene2Phenotype
ATXN3 is in 13 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 5 Nov 2021, 4:31 p.m. | Last Modified: 5 Nov 2021, 4:31 p.m.
Panel Version: 2.101
Louise Daugherty (Genomics England Curator)
This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group. The GREEN review from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH relates to the STR and not the gene entity (and is indicated in her comments), as there are no SNVs for this gene being associated to the disorder, this gene is rated RED.Created: 19 Jun 2019, 12:01 p.m.
Review and GREEN rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
CAG triplet expansion - no evidence for SNVsCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Machado-Joseph disease, 109150
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Details
- Mode of Inheritance
- Other
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Red
- Hereditary ataxia v1.148
- Phenotypes
-
- Machado-Joseph disease, OMIM:109150
- Tags
- OMIM
- 607047
- Clinvar variants
- Variants in ATXN3
- Penetrance
- None
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Intellectual disability
- Hereditary ataxia
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ATXN3 was changed from Unknown to Other
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATXN3 were changed from Machado-Joseph disease, 109150 to Machado-Joseph disease, OMIM:109150
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Machado-Joseph disease, 109150 for gene: ATXN3
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ATXN3.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to ATXN3.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: Implica
Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag nucleotide-repeat-expansion tag was added to gene: ATXN3. Tag currently-ngs-unreportable tag was added to gene: ATXN3.
Created, Added New Source, Set mode of inheritance, Set mode of pathogenicity
Eleanor Williams (Genomics England Curator)gene: ATXN3 was added gene: ATXN3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATXN3 was set to Unknown Mode of pathogenicity for gene: ATXN3 was set to Other - please provide details in the comments