Activity
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6 actions
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| DDG2P v6.282 | PDE10A | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PDE10A was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PDE10A | Achchuthan Shanmugasundram edited their review of gene: PDE10A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PDE10A-related childhood-onset chorea with bilateral striatal lesions are strong, monoallelic_autosomal and undetermined (PMID:27058447). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01729.; Changed phenotypes to: PDE10A-related childhood-onset chorea with bilateral striatal lesions, Childhood-Onset Chorea with Bilateral Striatal Lesions, OMIM:616922.0, MONDO:0014835 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDE10A | Achchuthan Shanmugasundram reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27058447; Phenotypes: Childhood-Onset Chorea with Bilateral Striatal Lesions; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PDE10A |
Achchuthan Shanmugasundram Source Expert Review Green was added to PDE10A. Mode of pathogenicity for gene PDE10A was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | PDE10A | Rebecca Foulger reviewed gene: PDE10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PDE10A |
Rebecca Foulger gene: PDE10A was added gene: PDE10A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PDE10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDE10A were set to 27058447 Phenotypes for gene: PDE10A were set to Childhood-Onset Chorea with Bilateral Striatal Lesions Mode of pathogenicity for gene: PDE10A was set to Other - please provide details in the comments |
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