Hereditary ataxia with onset in adulthood
Gene: ATXN10EnsemblGeneIds (GRCh38): ENSG00000130638
EnsemblGeneIds (GRCh37): ENSG00000130638
OMIM: 611150, Gene2Phenotype
ATXN10 is in 17 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, 1:47 p.m. | Last Modified: 5 Nov 2021, 1:47 p.m.
Panel Version: 2.95
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, 11:59 a.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)
ATTCT expansion in intron 9. No evidence for SNVsCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 10, 603516
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
-
- Spinocerebellar ataxia 10, OMIM:603516
- Tags
- OMIM
- 611150
- Clinvar variants
- Variants in ATXN10
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Hereditary neuropathy
- Intellectual disability
- Adult onset neurodegenerative disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Hereditary ataxia
- Hereditary neuropathy or pain disorder
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Childhood onset hereditary spastic paraplegia
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ATXN10 was changed from Unknown to Other
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATXN10 were changed from Spinocerebellar ataxia 10, 603516; Spinocerebellarataxia10, 603516 to Spinocerebellar ataxia 10, OMIM:603516
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Spinocerebellar ataxia 10, 603516 for gene: ATXN10
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ATXN10.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to ATXN10.
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: ATXN10. Tag currently-ngs-unreportable tag was added to gene: ATXN10.
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Eleanor Williams (Genomics England Curator)gene: ATXN10 was added gene: ATXN10 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATXN10 was set to Unknown Phenotypes for gene: ATXN10 were set to Spinocerebellarataxia10, 603516 Mode of pathogenicity for gene: ATXN10 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments