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| Dystonia - isolated/combined v0.18 | PDE10A | Zornitza Stark reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27058447; Phenotypes: Early onset chorea without epilepsy, infantile onset limb and orofacial dyskinesia (OMIM 616921); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.18 | PDE10A | Zornitza Stark Marked gene: PDE10A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.18 | PDE10A | Zornitza Stark Gene: pde10a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.18 | PDE10A | Zornitza Stark Classified gene: PDE10A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.18 | PDE10A | Zornitza Stark Gene: pde10a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.17 | PDE10A | Eunice Chan commented on gene: PDE10A: Due to marked fluctuations in movement disorder that can be seen ?consider adding to PxD panel also | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.17 | PDE10A |
Eunice Chan gene: PDE10A was added gene: PDE10A was added to Dystonia - isolated/combined. Sources: Expert list Mode of inheritance for gene: PDE10A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE10A were set to PMID 27058447 Phenotypes for gene: PDE10A were set to Early onset chorea without epilepsy; infantile onset limb and orofacial dyskinesia (OMIM 616921) Added comment: Generalised dyskinesia (chorea, ballismus, orolingual dyskinesia), axial hypotonia, dysarthria Bilateral striatal lesions on MRI Sources: Expert list |
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