Activity
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6 actions
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| DDG2P v6.161 | FBXW11 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: FBXW11 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | FBXW11 | Achchuthan Shanmugasundram edited their review of gene: FBXW11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FBXW11-related syndromic intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:31402090). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02790.; Changed phenotypes to: FBXW11-related syndromic intellectual disability, MONDO:0030057, OMIM:618914.0, SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBXW11 | Achchuthan Shanmugasundram reviewed gene: FBXW11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31402090; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FBXW11 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FBXW11. Mode of pathogenicity for gene FBXW11 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 v1.130 | FBXW11 | Rebecca Foulger reviewed gene: FBXW11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.129 | FBXW11 |
Rebecca Foulger gene: FBXW11 was added gene: FBXW11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXW11 were set to 31402090 Phenotypes for gene: FBXW11 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 Mode of pathogenicity for gene: FBXW11 was set to Other - please provide details in the comments |
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