Activity
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6 actions
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| DDG2P v6.158 | EXOSC3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: EXOSC3 was changed from Other - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EXOSC3 | Achchuthan Shanmugasundram edited their review of gene: EXOSC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EXOSC3-related pontocerebellar hypoplasia are definitive, biallelic_autosomal and undetermined (PMID:34085948). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00730.; Changed phenotypes to: PONTOCEREBELLAR HYPOPLASIA TYPE 1, OMIM:607596, MONDO:0013853, OMIM:614678.0, EXOSC3-related pontocerebellar hypoplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXOSC3 | Achchuthan Shanmugasundram reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 1, OMIM:607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EXOSC3 | Achchuthan Shanmugasundram Publications for gene: EXOSC3 were updated from to 34085948 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EXOSC3 | Rebecca Foulger reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EXOSC3 |
Rebecca Foulger gene: EXOSC3 was added gene: EXOSC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXOSC3 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596 Mode of pathogenicity for gene: EXOSC3 was set to Other - please provide details in the comments |
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