Activity
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6 actions
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| DDG2P v6.168 | FTO | Achchuthan Shanmugasundram Mode of pathogenicity for gene: FTO was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | FTO | Achchuthan Shanmugasundram edited their review of gene: FTO: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FTO-related growth retardation, developmental delay, coarse facies, and early death are limited, biallelic_autosomal and undetermined (PMID:19559399). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00102.; Changed phenotypes to: GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH, OMIM:612938, OMIM:612938.0, FTO-related growth retardation, developmental delay, coarse facies, and early death | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FTO | Achchuthan Shanmugasundram reviewed gene: FTO: Rating: RED; Mode of pathogenicity: Other; Publications: 19559399; Phenotypes: GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH, OMIM:612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FTO | Achchuthan Shanmugasundram Mode of pathogenicity for gene FTO was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FTO | Rebecca Foulger reviewed gene: FTO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FTO |
Rebecca Foulger gene: FTO was added gene: FTO was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTO were set to 19559399 Phenotypes for gene: FTO were set to GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH 612938 Mode of pathogenicity for gene: FTO was set to Other - please provide details in the comments |
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