Hereditary ataxia
Gene: ATXN10EnsemblGeneIds (GRCh38): ENSG00000130638
EnsemblGeneIds (GRCh37): ENSG00000130638
OMIM: 611150, Gene2Phenotype
ATXN10 is in 17 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 5 Nov 2021, 1:45 p.m. | Last Modified: 5 Nov 2021, 1:45 p.m.
Panel Version: 1.250
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P. CNVs (ATTCT)n associated with this gene. Cognitive impairment reported as a feature of this phenotype, but appears to be adult onset (PMID 17620556)Created: 14 Dec 2017, 3:58 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 10 603516
Publications
Alice Gardham (Genomics England)
Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice GardhamCreated: 5 Dec 2016, 9:22 a.m.
emma baple (Genomics England Curator)
Comment when marking as ready: Repeat expansionCreated: 11 Jul 2016, 4:37 a.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Repeat expansion. NOT APPROPRIATECreated: 24 Nov 2015, 4:57 p.m.
Phenotypes
Spinocerebellarataxia10,603516
Mode of pathogenicity
Other - please provide details in the comments
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spinocerebellar ataxia 10, OMIM:603516
- Tags
- OMIM
- 611150
- Clinvar variants
- Variants in ATXN10
- Penetrance
- Complete
- 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
-
- Skeletal dysplasia
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Early onset dystonia
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Hereditary spastic paraplegia
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag watchlist was removed from gene: ATXN10.
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ATXN10 was changed from to Other
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATXN10 were changed from Spinocerebellarataxia10,603516 to Spinocerebellar ataxia 10, OMIM:603516
Set mode of pathogenicity
Alice Gardham (Genomics England)Mode of pathogenicity for ATXN10 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for ATXN10 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for ATXN10 was changed to Other - please provide details in the comments
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ATXN10 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen