Activity
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6 actions
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| DDG2P v6.140 | DHFR | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHFR was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DHFR | Achchuthan Shanmugasundram edited their review of gene: DHFR: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHFR-related megaloblastic anemia due to dihydrofolate reductase deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 21310276, 21310277). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00614.; Changed phenotypes to: OMIM:613839.0, MONDO:0013456, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OMIM:613839, DHFR-related megaloblastic anemia due to dihydrofolate reductase deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHFR | Achchuthan Shanmugasundram reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21310277, 21310276; Phenotypes: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OMIM:613839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DHFR | Achchuthan Shanmugasundram Mode of pathogenicity for gene DHFR was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DHFR | Rebecca Foulger reviewed gene: DHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DHFR |
Rebecca Foulger gene: DHFR was added gene: DHFR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHFR were set to 21310277; 21310276 Phenotypes for gene: DHFR were set to MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY 613839 Mode of pathogenicity for gene: DHFR was set to Other - please provide details in the comments |
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