Activity
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6 actions
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| DDG2P v6.289 | PIGY | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGY was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PIGY | Achchuthan Shanmugasundram edited their review of gene: PIGY: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGY-related glycosylphosphatidylinositol deficiency are strong, biallelic_autosomal and undetermined (PMID:26293662). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01784.; Changed phenotypes to: OMIM:616809.0, MONDO:0014780, Glycosylphosphatidylinositol deficiency, OMIM:610293, PIGY-related glycosylphosphatidylinositol deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGY | Achchuthan Shanmugasundram reviewed gene: PIGY: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26293662; Phenotypes: Glycosylphosphatidylinositol deficiency, OMIM:610293; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIGY |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIGY. Mode of pathogenicity for gene PIGY 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 | PIGY | Rebecca Foulger reviewed gene: PIGY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PIGY |
Rebecca Foulger gene: PIGY was added gene: PIGY was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIGY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGY were set to 26293662 Phenotypes for gene: PIGY were set to Glycosylphosphatidylinositol deficiency Mode of pathogenicity for gene: PIGY was set to Other - please provide details in the comments |
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