Adult onset movement disorderGene: RNASEH2C
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, 4:49 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 Aicardi-Goutieres syndrome 3, 610329 for gene: RNASEH2C Publications for gene RNASEH2C were changed from to 17846997; 25604658; 16845400
Source NHS GMS was added to RNASEH2C.
Source South West GLH was added to RNASEH2C.
gene: RNASEH2C was added gene: RNASEH2C was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: RNASEH2C was set to Phenotypes for gene: RNASEH2C were set to Dystonia