| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - isolated/combined v1.39 | DRD2 | Bryony Thompson Classified gene: DRD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.39 | DRD2 | Bryony Thompson Gene: drd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.38 | DRD2 | Bryony Thompson reviewed gene: DRD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 36456191, 34145635, 33200438; Phenotypes: Combined dystonia, MONDO:0020065, DRD2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.24 | DRD2 | Zornitza Stark Marked gene: DRD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.24 | DRD2 | Zornitza Stark Gene: drd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.24 | DRD2 | Zornitza Stark Phenotypes for gene: DRD2 were changed from dystonia; chorea; anxiety; ataxia; orofacial dyskinesia; tremor; memory problems to Combined dystonia, MONDO:0020065, DRD2-related; dystonia; chorea; anxiety; ataxia; orofacial dyskinesia; tremor; memory problems | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.23 | DRD2 | Chirag Patel Classified gene: DRD2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.23 | DRD2 | Chirag Patel Added comment: Comment on list classification: Single family only | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.23 | DRD2 | Chirag Patel Gene: drd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.22 | DRD2 | Shekeeb Mohammad edited their review of gene: DRD2: Changed rating: GREEN; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.22 | DRD2 |
Shekeeb Mohammad gene: DRD2 was added gene: DRD2 was added to Dystonia - isolated/combined. Sources: Literature Mode of inheritance for gene: DRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DRD2 were set to 33200438 Phenotypes for gene: DRD2 were set to dystonia; chorea; anxiety; ataxia; orofacial dyskinesia; tremor; memory problems Penetrance for gene: DRD2 were set to Complete Mode of pathogenicity for gene: DRD2 was set to Other Added comment: Gain of Function variants reported with disease in a single multigenerational family doi: 10.1002/mds.28385 Sources: Literature |
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