Activity
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8 actions
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| DDG2P v6.162 | FUK | Achchuthan Shanmugasundram Mode of pathogenicity for gene: FUK was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | FUK | Achchuthan Shanmugasundram edited their review of gene: FUK: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FCSK-related congenital disorder of glycosylation are strong, biallelic_autosomal and undetermined (PMID:30503518). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02632.; Changed phenotypes to: OMIM:618324.0, FCSK-related congenital disorder of glycosylation, MONDO:0020777, CONGENITAL DISORDER OF GLYCOSYLATION, MONDO:0015286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FUK | Achchuthan Shanmugasundram reviewed gene: FUK: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30503518; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, MONDO:0015286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FUK |
Achchuthan Shanmugasundram Source Expert Review Green was added to FUK. Mode of pathogenicity for gene FUK 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 v1.41 | FUK | Louise Daugherty Tag new-gene-name tag was added to gene: FUK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.41 | FUK | Louise Daugherty commented on gene: FUK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | FUK | Rebecca Foulger reviewed gene: FUK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | FUK |
Rebecca Foulger gene: FUK was added gene: FUK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUK were set to 30503518 Phenotypes for gene: FUK were set to CONGENITAL DISORDER OF GLYCOSYLATION Mode of pathogenicity for gene: FUK was set to Other - please provide details in the comments |
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