Activity
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| Dystonia, chorea or related movement disorder, adult onset v0.88 | NUP62 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.88 | NUP62 | Louise Daugherty commented on gene: NUP62: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.88 | NUP62 | Louise Daugherty edited their review of gene: NUP62: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.50 | NUP62 | Louise Daugherty reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.49 | NUP62 | Emily Jones reviewed gene: NUP62: Rating: RED; Mode of pathogenicity: ; Publications: 16786527, 14718703, 12374138; Phenotypes: Striatonigral degeneration, infantile 271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.48 | NUP62 | Louise Daugherty Added phenotypes Striatonigral degeneration, infantile 271930 for gene: NUP62 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.47 | NUP62 | Louise Daugherty Source NHS GMS was added to NUP62. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.46 | NUP62 | Louise Daugherty Source South West GLH was added to NUP62. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.2 | NUP62 |
Ellen McDonagh gene: NUP62 was added gene: NUP62 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP62 were set to 16786527; 14718703; 12374138 Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile |
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