Adult onset dystonia, chorea or related movement disorder
Gene: DRD5
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 REDCreated: 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.
Added phenotypes {Blepharospasm, primary benign}, 606798 for gene: DRD5 Publications for gene DRD5 were changed from PMID: 17133500 to 12700316; 17133500
Source NHS GMS was added to DRD5.
Source South West GLH was added to DRD5.
gene: DRD5 was added gene: DRD5 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: DRD5 was set to Publications for gene: DRD5 were set to PMID: 17133500 Phenotypes for gene: DRD5 were set to {Blepharospasm, primary benign}, 606798