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| Dystonia and Chorea v0.344 | DRD2 | Bryony Thompson Marked gene: DRD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.344 | DRD2 | Bryony Thompson Gene: drd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.344 | DRD2 | Bryony Thompson Classified gene: DRD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.344 | DRD2 | Bryony Thompson Gene: drd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.343 | DRD2 | Bryony Thompson edited their review of gene: DRD2: Added comment: PMIDs 33200438, 34145635 and 38643909 report 7 individuals from 3 unrelated families with monoallelic gain‑of‑function DRD2 missense variants presenting with a hyperkinetic movement‑disorder spectrum—from adolescent‑onset chorea with cervical dystonia to infancy‑onset severe motor, cognitive and neuropsychiatric deficits. Functional assays demonstrate constitutive G‑protein activation and reduced arrestin‑β‑arrestin recruitment; two de novo cases confirm dominant inheritance. PMID 36456191 reports a mouse model of I212F with a hyperkinetic movement disorder.; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications: 38643909, 34145635, 33974399, 33200438, 36456191 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.343 | Bryony Thompson Added reviews for gene DRD2 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.301 | Bryony Thompson Copied gene DRD2 from panel Dystonia - isolated/combined | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.301 | DRD2 |
Bryony Thompson gene: DRD2 was added gene: DRD2 was added to Dystonia - complex. Sources: Expert Review Amber,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 Combined dystonia, MONDO:0020065, DRD2-related; 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 |
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