Activity
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6 actions
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| DDG2P v6.312 | RAB11B | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAB11B was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RAB11B | Achchuthan Shanmugasundram edited their review of gene: RAB11B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAB11B-related intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:29106825). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01972.; Changed phenotypes to: RAB11B-related intellectual disability, OMIM:617807.0, MONDO:0060624, INTELLECTUAL DISABILITY, OMIM:616579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB11B | Achchuthan Shanmugasundram reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29106825; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RAB11B |
Achchuthan Shanmugasundram Source Expert Review Green was added to RAB11B. Mode of pathogenicity for gene RAB11B 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 | RAB11B | Rebecca Foulger reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RAB11B |
Rebecca Foulger gene: RAB11B was added gene: RAB11B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAB11B were set to 29106825 Phenotypes for gene: RAB11B were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: RAB11B was set to Other - please provide details in the comments |
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