Activity
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6 actions
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| DDG2P v6.135 | DDX59 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDX59 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DDX59 | Achchuthan Shanmugasundram edited their review of gene: DDX59: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DDX59-related orofaciodigital syndrome are strong, biallelic_autosomal and undetermined (PMID:23972372). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01525.; Changed phenotypes to: MONDO:0008267, DDX59-related orofaciodigital syndrome, OMIM:174300.0, OROFACIODIGITAL SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX59 | Achchuthan Shanmugasundram reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23972372; Phenotypes: OROFACIODIGITAL SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DDX59 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DDX59. Mode of pathogenicity for gene DDX59 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 | DDX59 | Rebecca Foulger reviewed gene: DDX59: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DDX59 |
Rebecca Foulger gene: DDX59 was added gene: DDX59 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDX59 were set to 23972372 Phenotypes for gene: DDX59 were set to OROFACIODIGITAL SYNDROME Mode of pathogenicity for gene: DDX59 was set to Other - please provide details in the comments |
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