Genes in panel

Adult onset movement disorder

Gene: ATXN3

Red List (low evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Parkinson Disease and Complex Parkinsonism panel. It relates to the STR ATXN3_CAG (rated GREEN) and not the gene entity, as there are no SNVs for this gene being associated to the disorder, so this gene has been rated as RED.
Created: 19 Jun 2019, 3:40 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Triplet repeat expansion
Created: 23 Apr 2019, 12:14 p.m.

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

Phenotypes
(CAGexpansion); familial parkinsonism

Mode of pathogenicity
Other - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
Phenotypes
  • (CAGexpansion)
  • familial parkinsonism
OMIM
607047
Clinvar variants
Variants in ATXN3
Penetrance
None
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

History Filter Activity

23 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

gene: ATXN3 was added gene: ATXN3 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: ATXN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ATXN3 were set to (CAGexpansion); familial parkinsonism Mode of pathogenicity for gene: ATXN3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments