Activity
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6 actions
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| DDG2P v6.275 | NSMCE3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: NSMCE3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NSMCE3 | Achchuthan Shanmugasundram edited their review of gene: NSMCE3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NSMCE3-related distinct DNA breakage syndrome are limited, biallelic_autosomal and undetermined (PMIDs: 27427983, 33741030, 40728043). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01140.; Changed publications to: 40728043, 33741030, 27427983; Changed phenotypes to: NSMCE3-related distinct DNA breakage syndrome, DISTINCT DNA BREAKAGE SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NSMCE3 | Achchuthan Shanmugasundram reviewed gene: NSMCE3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: DISTINCT DNA BREAKAGE SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NSMCE3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NSMCE3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NSMCE3 | Rebecca Foulger reviewed gene: NSMCE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NSMCE3 |
Rebecca Foulger gene: NSMCE3 was added gene: NSMCE3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NSMCE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NSMCE3 were set to DISTINCT DNA BREAKAGE SYNDROME Mode of pathogenicity for gene: NSMCE3 was set to Other - please provide details in the comments |
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