Adult onset movement disorderGene: TREX1
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, 4:51 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.
Numerous variants reported. Dystonia can be a feature. Onset in infancy
Created: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Vasculopathy, retinal, with cerebral leukodystrophy, 192315
Mode of inheritance for gene: TREX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 for gene: TREX1 Publications for gene TREX1 were changed from to 25582466
Source NHS GMS was added to TREX1.
Source South West GLH was added to TREX1.
gene: TREX1 was added gene: TREX1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: TREX1 was set to Phenotypes for gene: TREX1 were set to Dystonia