Adult onset movement disorderGene: PDHX
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, 4:44 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 Lacticacidemia due to PDX1 deficiency, 245349 for gene: PDHX Publications for gene PDHX were changed from to 20002125; 25087164
Source NHS GMS was added to PDHX.
Source South West GLH was added to PDHX.
gene: PDHX was added gene: PDHX was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: PDHX was set to Phenotypes for gene: PDHX were set to Dystonia