Adult onset movement disorderGene: DRD2
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, 4:18 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.
Linkage association with myoclonus dystonia 11 reported. However variants in SCGE were later detected in reported families.
Created: 23 Apr 2019, 12:14 p.m.
Dystonia, myoclonic, 159900
Added phenotypes Dystonia, myoclonic, 159900 for gene: DRD2 Publications for gene DRD2 were changed from http://www.ncbi.nlm.nih.gov/books/NBK1414/ to 20301587
Source NHS GMS was added to DRD2.
Source South West GLH was added to DRD2.
gene: DRD2 was added gene: DRD2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: DRD2 was set to Publications for gene: DRD2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1414/ Phenotypes for gene: DRD2 were set to Dystonia, myoclonic, 159900