Amyotrophic lateral sclerosis/motor neuron disease
Gene: ATXN2Comment 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
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.
Mode of inheritance for gene: ATXN2 was changed from to Other
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
Tag currently-ngs-unreportable tag was added to gene: ATXN2.
Promoted to version 1 on 19th December 2016 following external review and internal curation
This gene has been classified as Red List (Low Evidence).
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
Mode of pathogenicity for ATXN2 was changed to Other - please provide details in the comments
This gene has been classified as Red List (Low Evidence).
Publications for ATXN2 were set to 24488689
This gene has been classified as Red List (Low Evidence).
ATXN2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
ATXN2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Radboud University Medical Center, Nijmegen