Amyotrophic lateral sclerosis/motor neuron disease
Gene: ATXN2EnsemblGeneIds (GRCh38): ENSG00000204842
EnsemblGeneIds (GRCh37): ENSG00000204842
OMIM: 601517, Gene2Phenotype
ATXN2 is in 16 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, 3:56 p.m. | Last Modified: 5 Nov 2021, 3:56 p.m.
Panel Version: 1.41
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Due to a nucleotide repeat expansion, therefore for now should remain red as loss-of-function or missense variants are not relevant.Created: 3 Nov 2016, 6:51 p.m.
Comment on list classification: May be a disease-modifying genes - see PMID: 24488689.Created: 15 Jun 2016, 2:20 p.m.
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
- Tags
- OMIM
- 601517
- Clinvar variants
- Variants in ATXN2
- Penetrance
- Complete
- Publications
- 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
- Adult onset dystonia, chorea or related movement disorder
- Intellectual disability
- Adult onset neurodegenerative disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Hereditary ataxia
- Hereditary neuropathy or pain disorder
- Amyotrophic lateral sclerosis/motor neuron disease
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ATXN2 was changed from to Other
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATXN2 were changed from Spinocerebellar ataxia 2, 183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 to {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Added Tag
Arina Puzriakova (Genomics England Curator)Tag currently-ngs-unreportable tag was added to gene: ATXN2.
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 19th December 2016 following external review and internal curation
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for ATXN2 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 ATXN2 was changed to Other - please provide details in the comments
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ATXN2 were set to 24488689
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ATXN2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)ATXN2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Radboud University Medical Center, Nijmegen