Activity
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6 actions
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| DDG2P v6.363 | SPRTN | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SPRTN was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SPRTN | Achchuthan Shanmugasundram edited their review of gene: SPRTN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SPRTN-related progeria and hepatocellular carcinoma are limited, biallelic_autosomal and undetermined (PMID:25261934). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01584.; Changed publications to: 25261934; Changed phenotypes to: MONDO:0014527, PROGEROID SYNDROME, SPRTN-related progeria and hepatocellular carcinoma, OMIM:616200.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPRTN | Achchuthan Shanmugasundram reviewed gene: SPRTN: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: PROGEROID SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SPRTN | Achchuthan Shanmugasundram Mode of pathogenicity for gene SPRTN was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SPRTN | Rebecca Foulger reviewed gene: SPRTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SPRTN |
Rebecca Foulger gene: SPRTN was added gene: SPRTN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SPRTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPRTN were set to PROGEROID SYNDROME Mode of pathogenicity for gene: SPRTN was set to Other - please provide details in the comments |
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