Adult onset movement disorderGene: ERCC6
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, 4:19 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.
Individuals with Cockayne Syndrome can have ataxia/tremor, but would present with severe growth failure/FTT.
Created: 23 Apr 2019, 12:14 p.m.
Added phenotypes Dystonia for gene: ERCC6
Source NHS GMS was added to ERCC6.
Source South West GLH was added to ERCC6.
gene: ERCC6 was added gene: ERCC6 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: ERCC6 was set to Phenotypes for gene: ERCC6 were set to Dystonia