Adult onset movement disorderGene: MPV17
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
Created: 19 Jun 2019, 4:39 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 seen in about 4% of patients with disorder so not a common feature. Presenting feature is metabolic decompensation / liver failure so more appropriate for it to be on other panels
Created: 23 Apr 2019, 12:14 p.m.
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
Added phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 for gene: MPV17 Publications for gene MPV17 were changed from to 22593919
Source NHS GMS was added to MPV17.
Source South West GLH was added to MPV17.
gene: MPV17 was added gene: MPV17 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: MPV17 was set to Phenotypes for gene: MPV17 were set to Dystonia