Primary ciliary disorders
Gene: ATXN10
ATXN10 (ataxin 10)
EnsemblGeneIds (GRCh38): ENSG00000130638
EnsemblGeneIds (GRCh37): ENSG00000130638
OMIM: 611150, Gene2Phenotype
ATXN10 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000130638
EnsemblGeneIds (GRCh37): ENSG00000130638
OMIM: 611150, Gene2Phenotype
ATXN10 is in 17 panels
4 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: 1.35
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Removed from the panel due to two reviewer comments.Created: 1 Jun 2018, 9:10 a.m.
Comment on mode of pathogenicity: Nucleotide tandem repeats have been associated with Spinocerebellar ataxia 10 in this gene.Created: 30 Nov 2016, 10:38 a.m.
Ian Berry (Leeds Genetics Laboratory)
Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.Created: 8 Dec 2015, 5:32 p.m.
Phenotypes
ciliopathies
Hannah Mitchison (UCL and GOSH)
This is a ciliopathy but not a Primary Ciliary Disorder gene and should be removed from the panelCreated: 8 Dec 2015, 4:25 p.m.
Phenotypes
ciliopathies
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Spinocerebellar ataxia 10, OMIM:603516
- Ciliopathies
- Tags
- OMIM
- 611150
- Clinvar variants
- Variants in ATXN10
- Penetrance
- Complete
- Mode of Pathogenicity
- Other - 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
5 Nov 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag currently-ngs-unreportable tag was added to gene: ATXN10.
5 Nov 2021, Gel status: 0
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ATXN10 was changed from to Other
5 Nov 2021, Gel status: 0
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATXN10 were changed from ciliopathies to Spinocerebellar ataxia 10, OMIM:603516; Ciliopathies
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: ATXN10.
1 Jun 2018, Gel status: 0
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: atxn10 has been removed from the panel.
30 Nov 2016, Gel status: 1
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for ATXN10 was changed to Other - please provide details in the comments
16 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ATXN10 was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory