Hereditary ataxia
Gene: ATXN1EnsemblGeneIds (GRCh38): ENSG00000124788
EnsemblGeneIds (GRCh37): ENSG00000124788
OMIM: 601556, Gene2Phenotype
ATXN1 is in 14 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 9 Nov 2021, 4:52 p.m. | Last Modified: 9 Nov 2021, 4:52 p.m.
Panel Version: 1.268
Ellen McDonagh (Genomics England Curator)
Comment on mode of pathogenicity: Added 'currently-ngs-unreportable' tag.Created: 30 Nov 2016, 5:10 p.m.
Comment on mode of pathogenicity: Trinucleotide expansion.Created: 21 Jul 2016, 7:44 a.m.
emma baple (Genomics England Curator)
Comment when marking as ready: Good evidence, but due to a trinucleotide expansion so exclude for nowCreated: 3 Jun 2016, 11:54 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
Spinocerebellarataxia1,164400
Mode of pathogenicity
Other - please provide details in the comments
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Spinocerebellar ataxia 1, OMIM:164400
- Tags
- OMIM
- 601556
- Clinvar variants
- Variants in ATXN1
- Penetrance
- Complete
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Adult onset hereditary spastic paraplegia
- Intellectual disability
- Hereditary ataxia
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ATXN1 was changed from to Other
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATXN1 were changed from Spinocerebellarataxia1,164400 to Spinocerebellar ataxia 1, OMIM:164400
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for ATXN1 was changed to Other - please provide details in the comments
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for ATXN1 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).
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)ATXN1 was added to Hereditary ataxiapanel. Sources: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)ATXN1 was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)ATXN1 was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen