Adult onset dystonia, chorea or related movement disorder
Gene: FOXRED1
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, 4:19 p.m.
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, 4:14 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.
Limited cases and movement disorder is not the predominant feature.Created: 23 Apr 2019, 12:14 p.m.
Phenotypes
Mitochondrial complex I deficiency, nuclear type 19, 618241
Added phenotypes Mitochondrial complex I deficiency, nuclear type 19, 618241 for gene: FOXRED1
Source NHS GMS was added to FOXRED1.
Source South West GLH was added to FOXRED1.
gene: FOXRED1 was added gene: FOXRED1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: FOXRED1 was set to Phenotypes for gene: FOXRED1 were set to Dystonia