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| Neurodegenerative disorders, adult onset v9.15 | PDE8B |
Rhys Dore gene: PDE8B was added gene: PDE8B was added to Neurodegenerative disorders, adult onset. Sources: Research Mode of inheritance for gene: PDE8B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDE8B were set to PMID: 20085714, 26475694; 26769607; 31726290; 34022587 Phenotypes for gene: PDE8B were set to striatal degeneration; Parkinsonism; bradykinesia, rigidity; dysarthria Penetrance for gene: PDE8B were set to unknown Review for gene: PDE8B was set to GREEN Added comment: Four families with consistent clinical features of adult onset striatal degeneration and features of Parkinsonism with concomitant predicted loss of function heterozygous variants in PDE8B. A fifth family with a pLOF variant and similar striatal degeneration, but with tremor and dystonia. Sources: Research |
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