Activity
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6 actions
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| DDG2P v6.252 | MOGS | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MOGS was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MOGS | Achchuthan Shanmugasundram edited their review of gene: MOGS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MOGS-related congenital disorder of glycosylation are strong, biallelic_autosomal and undetermined (PMIDs: 10788335, 24716661, 35790351). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00017.; Changed publications to: 10788335, 35790351, 24716661; Changed phenotypes to: MOGS-related congenital disorder of glycosylation, OMIM:606056.0, CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379, MONDO:0011629 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MOGS | Achchuthan Shanmugasundram reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MOGS |
Achchuthan Shanmugasundram Source Expert Review Green was added to MOGS. Mode of pathogenicity for gene MOGS 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 | MOGS | Rebecca Foulger reviewed gene: MOGS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MOGS |
Rebecca Foulger gene: MOGS was added gene: MOGS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOGS were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Mode of pathogenicity for gene: MOGS was set to Other - please provide details in the comments |
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