Adult onset movement disorderGene: SLC46A1
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, 4:47 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.
Movement disorder not listed as a part of the phenotype
Created: 23 Apr 2019, 12:14 p.m.
Folate malabsorption, hereditary, 229050
Added phenotypes Folate malabsorption, hereditary, 229050 for gene: SLC46A1 Publications for gene SLC46A1 were changed from to 20301716
Source NHS GMS was added to SLC46A1.
Source South West GLH was added to SLC46A1.
gene: SLC46A1 was added gene: SLC46A1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: SLC46A1 was set to Phenotypes for gene: SLC46A1 were set to Dystonia