Activity
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6 actions
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| DDG2P v6.101 | CFL2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CFL2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CFL2 | Achchuthan Shanmugasundram edited their review of gene: CFL2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CFL2-related nemaline myopathy are strong, biallelic_autosomal and undetermined (PMID:17160903). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00394.; Changed phenotypes to: CFL2-related nemaline myopathy, MONDO:0012538, OMIM:610687.0, NEMALINE MYOPATHY 7, OMIM:610687 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CFL2 | Achchuthan Shanmugasundram reviewed gene: CFL2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17160903; Phenotypes: NEMALINE MYOPATHY 7, OMIM:610687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CFL2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CFL2. Mode of pathogenicity for gene CFL2 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 v0.2 | CFL2 | Rebecca Foulger reviewed gene: CFL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CFL2 |
Rebecca Foulger gene: CFL2 was added gene: CFL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFL2 were set to 17160903 Phenotypes for gene: CFL2 were set to NEMALINE MYOPATHY 7 610687 Mode of pathogenicity for gene: CFL2 was set to Other - please provide details in the comments |
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