Skeletal dysplasia
Gene: ATXN10EnsemblGeneIds (GRCh38): ENSG00000130638
EnsemblGeneIds (GRCh37): ENSG00000130638
OMIM: 611150, Gene2Phenotype
ATXN10 is in 17 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 5 Nov 2021, 1:46 p.m. | Last Modified: 5 Nov 2021, 1:46 p.m.
Panel Version: 2.150
Ellen McDonagh (Genomics England Curator)
Comment on mode of pathogenicity: Nucleotide expansion repeats have been reported for Spinocerebellar ataxia 10.Created: 30 Nov 2016, 10:50 a.m.
Details
- Mode of Inheritance
- Other
- Sources
-
- Emory Genetics Laboratory
- 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
-
- 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
Added Tag
Arina Puzriakova (Genomics England Curator)Tag currently-ngs-unreportable tag was added to 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 to Spinocerebellar ataxia 10, OMIM:603516
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 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 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
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Added New Source
Sarah Leigh (Genomics England Curator)ATXN10 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory
Created
Sarah Leigh (Genomics England Curator)ATXN10 was created by sleigh