Genes in panel

Adult onset movement disorder

Gene: ARX

Amber List (moderate evidence)

ARX (aristaless related homeobox)
EnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 15 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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)

I don't know

Gene is associated with wide spectrum of disease. Partington syndrome has characteristic hand dystonia, but dystonia can be a feature across the ARX spectrum. More likely to present in childhood. Appears appropriate for panel but clinical input may be helpful before upgrading. A recurrent variant c.441_464dup may not be detected by clinical exome due to polyalanine tract in exon 2
Created: 23 Apr 2019, 12:14 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Partington Syndrome, 300382

Publications

Mode of pathogenicity
Other - please provide details in the comments

History Filter Activity

27 Apr 2019, Gel status: 2

Set mode of pathogenicity

Louise Daugherty (Genomics England Curator)

Mode of pathogenicity for gene: ARX was changed from to Other

27 Apr 2019, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ARX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

27 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: arx has been classified as Amber List (Moderate Evidence).

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Partington Syndrome, 300382 for gene: ARX Publications for gene ARX were changed from to 29343471; 17664398; 26029707

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ARX.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to ARX.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ARX was added gene: ARX was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: ARX was set to Phenotypes for gene: ARX were set to Dystonia