Amyotrophic lateral sclerosis/motor neuron disease

Gene: ATXN2

Red List (low evidence)

ATXN2 (ataxin 2)
EnsemblGeneIds (GRCh38): ENSG00000204842
EnsemblGeneIds (GRCh37): ENSG00000204842
OMIM: 601517, Gene2Phenotype
ATXN2 is in 16 panels

1 review

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.

History Filter Activity

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 19th December 2016 following external review and internal curation

3 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Nov 2016, Gel status: 1

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

3 Nov 2016, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for ATXN2 was changed to Other - please provide details in the comments

3 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Nov 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ATXN2 were set to 24488689

15 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATXN2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen

18 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATXN2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Radboud University Medical Center, Nijmegen