Activity
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4 actions
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| DDG2P v6.317 | RAP1B | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAP1B was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RAP1B | Achchuthan Shanmugasundram edited their review of gene: RAP1B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAP1B-related developmental disorder are limited, monoallelic_autosomal and undetermined (PMIDs: 26280580, 32627184). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03053.; Changed publications to: 26280580, 32627184; Changed phenotypes to: OMIM:620654.0, RAP1B-related developmental disorder, MONDO:0958000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAP1B | Achchuthan Shanmugasundram reviewed gene: RAP1B: Rating: RED; Mode of pathogenicity: Other; Publications: 32627184, 26280580; Phenotypes: RAP1B-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RAP1B |
Achchuthan Shanmugasundram gene: RAP1B was added gene: RAP1B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAP1B were set to 32627184; 26280580 Phenotypes for gene: RAP1B were set to RAP1B-related developmental disorder Mode of pathogenicity for gene: RAP1B was set to Other |
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