Activity
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7 actions
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| Dystonia, chorea or related movement disorder, adult onset v0.88 | SUOX | Louise Daugherty edited their review of gene: SUOX: 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, more associated with childhood onset, which this panel does not represent.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.50 | SUOX | Louise Daugherty reviewed gene: SUOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.49 | SUOX | Emily Jones reviewed gene: SUOX: Rating: RED; Mode of pathogenicity: ; Publications: 28933809; Phenotypes: Sulfite oxidase deficiency, 272300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.48 | SUOX |
Louise Daugherty Added phenotypes Sulfite oxidase deficiency, 272300 for gene: SUOX Publications for gene SUOX were changed from to 28933809 |
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| Dystonia, chorea or related movement disorder, adult onset v0.47 | SUOX | Louise Daugherty Source NHS GMS was added to SUOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.46 | SUOX | Louise Daugherty Source South West GLH was added to SUOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.2 | SUOX |
Ellen McDonagh gene: SUOX was added gene: SUOX was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUOX were set to Dystonia |
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