1. Panels
  2. Hereditary ataxia
  3. ATXN3

Hereditary ataxia

Gene: ATXN3

Red List (low evidence)
ATXN3 (ataxin 3)
EnsemblGeneIds (GRCh38): ENSG00000066427
EnsemblGeneIds (GRCh37): ENSG00000066427
OMIM: 607047, Gene2Phenotype
ATXN3 is in 13 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 5 Nov 2021, 4:30 p.m. | Last Modified: 5 Nov 2021, 4:30 p.m.
Panel Version: 1.256
Created: 5 Nov 2021, 4:30 p.m.
Last Modified: 5 Nov 2021, 4:30 p.m.
Panel version: 1.256

Alice Gardham (Genomics England)

Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice Gardham
Created: 5 Dec 2016, 9:41 a.m.
Created: 5 Dec 2016, 9:41 a.m.

Panel version: 1.42

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Trinucleotide repeat
Created: 21 Jul 2016, 7:45 a.m.
Created: 21 Jul 2016, 7:45 a.m.

Panel version: 1.3

emma baple (Genomics England Curator)

Comment when marking as ready: trinucleotide repeat disorder, not appropriate currently
Created: 11 Jul 2016, 4:52 a.m.
Created: 11 Jul 2016, 4:52 a.m.

Panel version: 0.81

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

I don't know

Repeat expansion. NOT APPROPRIATE
Created: 24 Nov 2015, 4:57 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 24 Nov 2015, 4:57 p.m.

Panel version: 0

History Filter Activity

5 Nov 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: ATXN3 was changed from to Other

5 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ATXN3 were changed from to Machado-Joseph disease, OMIM:109150

5 Dec 2016, Gel status: 1

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for ATXN3 was changed to Other - please provide details in the comments

21 Jul 2016, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for ATXN3 was changed to Other - please provide details in the comments

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ATXN3 was added to Hereditary ataxiapanel. Sources: Eligibility statement prior genetic testing