Activity
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6 actions
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| DDG2P v6.318 | RBPJ | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RBPJ was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RBPJ | Achchuthan Shanmugasundram edited their review of gene: RBPJ: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RBPJ-related Adams-Oliver syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 22883147, 28160419). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01131.; Changed publications to: 22883147, 28160419; Changed phenotypes to: OMIM:614814.0, ADAMS OLIVER SYNDROME, MONDO:0013895, RBPJ-related Adams-Oliver syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RBPJ | Achchuthan Shanmugasundram reviewed gene: RBPJ: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22883147; Phenotypes: ADAMS OLIVER SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RBPJ |
Achchuthan Shanmugasundram Source Expert Review Green was added to RBPJ. Mode of pathogenicity for gene RBPJ 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 | RBPJ | Rebecca Foulger reviewed gene: RBPJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RBPJ |
Rebecca Foulger gene: RBPJ was added gene: RBPJ was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RBPJ were set to 22883147 Phenotypes for gene: RBPJ were set to ADAMS OLIVER SYNDROME Mode of pathogenicity for gene: RBPJ was set to Other - please provide details in the comments |
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