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  3. ATXN3
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Adult onset neurodegenerative disorder

Gene: ATXN3

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

4 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: 2.213
Created: 5 Nov 2021, 4:30 p.m.
Last Modified: 5 Nov 2021, 4:30 p.m.
Panel version: 2.213

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Point mutations not associated with SCA3
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
familial parkinsonism; (CAGexpansion)

Created: 23 Jul 2019, 3:35 p.m.
Last Modified: 23 Jul 2019, 3:35 p.m.
Panel version: 1.72

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 3:05 p.m.
Created: 23 Apr 2019, 3:05 p.m.

Panel version: 1.106

Anthony Dallosso (Bristol Genetics Laboratory)

I don't know

Caused by repeat expansion. Green gene in multiple subpanels.
Created: 23 Apr 2019, 2:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
familial parkinsonism; (CAGexpansion)

Created: 23 Apr 2019, 2:42 p.m.

Panel version: 1.6

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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other

5 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ATXN3 were changed from familial parkinsonism; (CAGexpansion) to Machado-Joseph disease, OMIM:109150; Susceptibility to Late-Onset Parkinson Disease

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ATXN3.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ATXN3.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to ATXN3.

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

Added Tag, Added Tag

Rebecca Foulger (Genomics England curator)

Tag nucleotide-repeat-expansion tag was added to gene: ATXN3. Tag currently-ngs-unreportable tag was added to gene: ATXN3.

18 Dec 2018, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes familial parkinsonism; (CAGexpansion) for gene: ATXN3

18 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Rebecca Foulger (Genomics England curator)

gene: ATXN3 was added gene: ATXN3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ATXN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown