Adult onset movement disorderGene: SUOX
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED, more associated with childhood onset, which this panel does not represent.
Created: 19 Jun 2019, 4:46 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.
Dystonia and choreoathetosis, and ataxia are common in late onset (6-18months) isolated sulfite oxidase deficiency. Numerous variants reported. More appropriate for childhood onset panel
Created: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sulfite oxidase deficiency, 272300
Added phenotypes Sulfite oxidase deficiency, 272300 for gene: SUOX Publications for gene SUOX were changed from to 28933809
Source NHS GMS was added to SUOX.
Source South West GLH was added to SUOX.
gene: SUOX was added gene: SUOX was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUOX were set to Dystonia