Activity
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7 actions
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| DDG2P v6.245 | MAP3K7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAP3K7 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MAP3K7 | Achchuthan Shanmugasundram edited their review of gene: MAP3K7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAP3K7-related frontometaphyseal dysplasia are strong, monoallelic_autosomal and undetermined (PMIDs: 27426733, 27426734). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01776.; Changed publications to: 27426734, 27426733; Changed phenotypes to: MONDO:0014935, OMIM:617137.0, FRONTOMETAPHYSEAL DYSPLASIA, OMIM:617137, MAP3K7-related frontometaphyseal dysplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAP3K7 | Achchuthan Shanmugasundram reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27426733, 27426734; Phenotypes: FRONTOMETAPHYSEAL DYSPLASIA, OMIM:617137; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAP3K7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MAP3K7. Mode of pathogenicity for gene MAP3K7 was changed from Other - please provide details in the comments to Other Publications for gene: MAP3K7 were updated from 27426734; 27426733 to 27426733; 27426734 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | MAP3K7 | Rebecca Foulger reviewed gene: MAP3K7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MAP3K7 |
Rebecca Foulger Added phenotypes FRONTOMETAPHYSEAL DYSPLASIA 305620 for gene: MAP3K7 Publications for gene MAP3K7 were changed from 27426734 to 27426734; 27426733 |
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| DDG2P v0.1 | MAP3K7 |
Rebecca Foulger gene: MAP3K7 was added gene: MAP3K7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAP3K7 were set to 27426734 Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome Mode of pathogenicity for gene: MAP3K7 was set to Other - please provide details in the comments |
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