Activity
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4 actions
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| DDG2P v6.281 | PABPC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PABPC1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PABPC1 | Achchuthan Shanmugasundram commented on gene: PABPC1: The DDG2P confidence category, allelic requirement and molecular mechanism for PABPC1-related developmental delay are limited, monoallelic_autosomal and undetermined (PMID:35511136). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03484. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | PABPC1 | Achchuthan Shanmugasundram reviewed gene: PABPC1: Rating: RED; Mode of pathogenicity: Other; Publications: 35511136; Phenotypes: PABPC1-related developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | PABPC1 |
Achchuthan Shanmugasundram gene: PABPC1 was added gene: PABPC1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PABPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PABPC1 were set to 35511136 Phenotypes for gene: PABPC1 were set to PABPC1-related developmental delay Mode of pathogenicity for gene: PABPC1 was set to Other |
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