Activity
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12 actions
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| DDG2P v6.316 | RAD51C | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAD51C was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RAD51C | Achchuthan Shanmugasundram edited their review of gene: RAD51C: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAD51C-related Fanconi anemia are strong, biallelic_autosomal and undetermined (PMID:20400963). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01017.; Changed phenotypes to: RAD51C-related Fanconi anemia, OMIM:613390.0, MONDO:0013248, FANCONI ANEMIA, COMPLEMENTATION GROUP 0, OMIM:613390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAD51C | Achchuthan Shanmugasundram reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20400963; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP 0, OMIM:613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAD51 | Achchuthan Shanmugasundram reviewed gene: RAD51: Rating: RED; Mode of pathogenicity: ; Publications: 21242494; Phenotypes: MIRROR MOVEMENTS 2, OMIM:614508; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RAD51C |
Achchuthan Shanmugasundram Source Expert Review Green was added to RAD51C. Mode of pathogenicity for gene RAD51C 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 v1.72 | RAD51 | Rebecca Foulger Classified gene: RAD51 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.72 | RAD51 | Rebecca Foulger Added comment: Comment on list classification: Changed rating from Amber to Red to reflect a change in DD-G2P Disease confidence from probable to possible in June 2019. Disease remains as: MIRROR MOVEMENTS 2. Mode of inheritance remains as: monoallelic. Mode of pathogenicity remains as: loss of function. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.72 | RAD51 | Rebecca Foulger Gene: rad51 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | RAD51C | Rebecca Foulger reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | RAD51 | Rebecca Foulger reviewed gene: RAD51: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RAD51C |
Rebecca Foulger gene: RAD51C was added gene: RAD51C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAD51C were set to 20400963 Phenotypes for gene: RAD51C were set to FANCONI ANEMIA, COMPLEMENTATION GROUP 0 613390 Mode of pathogenicity for gene: RAD51C was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RAD51 |
Rebecca Foulger gene: RAD51 was added gene: RAD51 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAD51 were set to 21242494 Phenotypes for gene: RAD51 were set to MIRROR MOVEMENTS 2 614508 |
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