Adult onset movement disorderGene: SDHAF1
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.
Added phenotypes Mitochondrial complex II deficiency, 252011 for gene: SDHAF1 Publications for gene SDHAF1 were changed from to 27683074; 23322652
Source NHS GMS was added to SDHAF1.
Source South West GLH was added to SDHAF1.
gene: SDHAF1 was added gene: SDHAF1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: SDHAF1 was set to Phenotypes for gene: SDHAF1 were set to Dystonia