Adult onset movement disorderGene: TPK1
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, 4:52 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.
PMID 28431625 descibes 1 patient with childhood onset generalised dystonia.
Created: 23 Apr 2019, 12:14 p.m.
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458
Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1 Publications for gene TPK1 were changed from to 28431625
Source NHS GMS was added to TPK1.
Source South West GLH was added to TPK1.
gene: TPK1 was added gene: TPK1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: TPK1 was set to Phenotypes for gene: TPK1 were set to Dystonia