Activity
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6 actions
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| DDG2P v6.293 | PNPLA1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PNPLA1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PNPLA1 | Achchuthan Shanmugasundram edited their review of gene: PNPLA1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PNPLA1-related congenital ichthyosis are strong, biallelic_autosomal and undetermined (PMIDs: 22246504, 24344921, 26691440, 28403545, 31120544, 31833240, 33786896, 34899144, 36647593). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00829.; Changed publications to: 36647593, 24344921, 26691440, 22246504, 28403545, 34899144, 33786896, 31120544, 31833240; Changed phenotypes to: CONGENITAL ICHTHYOSIS, PNPLA1-related congenital ichthyosis, MONDO:0014011, OMIM:615024.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PNPLA1 | Achchuthan Shanmugasundram reviewed gene: PNPLA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CONGENITAL ICHTHYOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PNPLA1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PNPLA1. Mode of pathogenicity for gene PNPLA1 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 v0.2 | PNPLA1 | Rebecca Foulger reviewed gene: PNPLA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PNPLA1 |
Rebecca Foulger gene: PNPLA1 was added gene: PNPLA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA1 were set to CONGENITAL ICHTHYOSIS Mode of pathogenicity for gene: PNPLA1 was set to Other - please provide details in the comments |
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