Adult onset dystonia, chorea or related movement disorder
Gene: ATXN1
ATXN1 (ataxin 1)
EnsemblGeneIds (GRCh38): ENSG00000124788
EnsemblGeneIds (GRCh37): ENSG00000124788
OMIM: 601556, Gene2Phenotype
ATXN1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000124788
EnsemblGeneIds (GRCh37): ENSG00000124788
OMIM: 601556, Gene2Phenotype
ATXN1 is in 14 panels
3 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: 1.147
Louise Daugherty (Genomics England Curator)
New RED gene added from James Polke (Neurogenetics Laboratory, Institute of Neurology, London), this is likely to relate to the STR ATXN1_CAG and not the gene entity, as there are no SNVs for this gene being associated to the disorder, this gene is rated RED, the STR ATXN1_CAG is rated GREEN. To clarify with the Neurology Test Group in July 2019Created: 19 Jun 2019, 3:31 p.m.
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- Other
- Sources
-
- NHS GMS
- London North GLH
- Phenotypes
-
- Spinocerebellar ataxia 1, OMIM:164400
- Tags
- OMIM
- 601556
- Clinvar variants
- Variants in ATXN1
- Penetrance
- None
- Panels with this gene
-
- Adult onset hereditary spastic paraplegia
- Hereditary ataxia
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- 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
9 Nov 2021, Gel status: 1
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag nucleotide-repeat-expansion tag was added to gene: ATXN1. Tag currently-ngs-unreportable tag was added to gene: ATXN1.
9 Nov 2021, Gel status: 1
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ATXN1 was changed from to Other
9 Nov 2021, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATXN1 were changed from to Spinocerebellar ataxia 1, OMIM:164400
23 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ATXN1.
23 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: ATXN1 was added gene: ATXN1 was added to Adult onset movement disorder. Sources: London North GLH Mode of inheritance for gene: ATXN1 was set to