Activity
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6 actions
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| DDG2P v6.317 | RANBP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RANBP2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RANBP2 | Achchuthan Shanmugasundram edited their review of gene: RANBP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RANBP2-related acute necrotizing encephalopathy, susceptibility to are limited, monoallelic_autosomal and undetermined (PMID:19118815). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01534.; Changed phenotypes to: RANBP2-related acute necrotizing encephalopathy, susceptibility to, OMIM:608033.0, ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO, OMIM:285648, MONDO:0011953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RANBP2 | Achchuthan Shanmugasundram reviewed gene: RANBP2: Rating: RED; Mode of pathogenicity: Other; Publications: 19118815; Phenotypes: ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO, OMIM:285648; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RANBP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene RANBP2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | RANBP2 | Rebecca Foulger reviewed gene: RANBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RANBP2 |
Rebecca Foulger gene: RANBP2 was added gene: RANBP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RANBP2 were set to 19118815 Phenotypes for gene: RANBP2 were set to ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO 285648 Mode of pathogenicity for gene: RANBP2 was set to Other - please provide details in the comments |
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