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| Adult onset dystonia, chorea or related movement disorder v0.88 | VPS37A | Louise Daugherty edited their review of gene: VPS37A: 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 | VPS37A | Louise Daugherty reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | VPS37A | Emily Jones reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: ; Publications: 22717650; Phenotypes: Spastic paraplegia 53, autosomal recessive, 614898; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.48 | VPS37A |
Louise Daugherty Added phenotypes Spastic paraplegia 53, autosomal recessive, 614898 for gene: VPS37A Publications for gene VPS37A were changed from to 22717650 |
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| Adult onset dystonia, chorea or related movement disorder v0.47 | VPS37A | Louise Daugherty Source NHS GMS was added to VPS37A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.46 | VPS37A | Louise Daugherty Source South West GLH was added to VPS37A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | VPS37A |
Ellen McDonagh gene: VPS37A was added gene: VPS37A was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: VPS37A was set to Phenotypes for gene: VPS37A were set to Dystonia |
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