Adult onset movement disorderGene: ARX
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.
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
Partington Syndrome, 300382
Mode of pathogenicity
Other - please provide details in the comments
Mode of pathogenicity for gene: ARX was changed from to Other
Mode of inheritance for gene: ARX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene: arx has been classified as Amber List (Moderate Evidence).
Added phenotypes Partington Syndrome, 300382 for gene: ARX Publications for gene ARX were changed from to 29343471; 17664398; 26029707
Source NHS GMS was added to ARX.
Source South West GLH was added to ARX.
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