Activity
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6 actions
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| DDG2P v6.326 | RTTN | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RTTN was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RTTN | Achchuthan Shanmugasundram edited their review of gene: RTTN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RTTN-related bilateral diffuse polymicrogyria are definitive, biallelic_autosomal and undetermined (PMIDs: 22939636, 26608784, 29883675). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01577.; Changed phenotypes to: RTTN-related bilateral diffuse polymicrogyria, MONDO:0018764, BILATERAL DIFFUSE POLYMICROGYRIA, OMIM:614833, OMIM:614833.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RTTN | Achchuthan Shanmugasundram reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26608784, 29883675, 22939636; Phenotypes: BILATERAL DIFFUSE POLYMICROGYRIA, OMIM:614833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RTTN |
Achchuthan Shanmugasundram Mode of pathogenicity for gene RTTN was changed from Other - please provide details in the comments to Other Publications for gene: RTTN were updated from 22939636; 29883675; 26608784 to 26608784; 22939636; 29883675 |
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| DDG2P v0.2 | RTTN | Rebecca Foulger reviewed gene: RTTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RTTN |
Rebecca Foulger gene: RTTN was added gene: RTTN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTTN were set to 22939636; 29883675; 26608784 Phenotypes for gene: RTTN were set to BILATERAL DIFFUSE POLYMICROGYRIA 614833 Mode of pathogenicity for gene: RTTN was set to Other - please provide details in the comments |
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