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Adult onset dystonia, chorea or related movement disorder v0.88 ERCC6 Louise Daugherty edited their review of gene: ERCC6: 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 dystonia, chorea or related movement disorder v0.50 ERCC6 Louise Daugherty reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 ERCC6 Emily Jones reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.48 ERCC6 Louise Daugherty Added phenotypes Dystonia for gene: ERCC6
Adult onset dystonia, chorea or related movement disorder v0.47 ERCC6 Louise Daugherty Source NHS GMS was added to ERCC6.
Adult onset dystonia, chorea or related movement disorder v0.46 ERCC6 Louise Daugherty Source South West GLH was added to ERCC6.
Adult onset dystonia, chorea or related movement disorder v0.2 ERCC6 Ellen McDonagh 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