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Adult onset movement disorder v0.89 TREX1 Louise Daugherty edited their review of gene: TREX1: Added comment: 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; Changed rating: RED
Adult onset movement disorder v0.89 TREX1 Louise Daugherty Mode of inheritance for gene: TREX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.50 TREX1 Louise Daugherty reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.49 TREX1 Emily Jones reviewed gene: TREX1: Rating: RED; Mode of pathogenicity: ; Publications: 25582466; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, 225750, Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.48 TREX1 Louise Daugherty 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
Adult onset movement disorder v0.47 TREX1 Louise Daugherty Source NHS GMS was added to TREX1.
Adult onset movement disorder v0.46 TREX1 Louise Daugherty Source South West GLH was added to TREX1.
Adult onset movement disorder v0.2 TREX1 Ellen McDonagh 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