Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Congenital disorders of glycosylation v2.39 | FUK | Sarah Leigh Phenotypes for gene: FUK were changed from Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324 to Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324; congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v2.38 | FUK | Sarah Leigh edited their review of gene: FUK: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least three variants reported in two unrelated cases.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v2.38 | FUK | Sarah Leigh Classified gene: FUK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v2.38 | FUK | Sarah Leigh Gene: fuk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v2.37 | FUK | Sarah Leigh Tag watchlist tag was added to gene: FUK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v2.37 | FUK | Sarah Leigh commented on gene: FUK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v2.37 | FUK | Sarah Leigh Tag new-gene-name tag was added to gene: FUK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v2.14 | FUK |
Zornitza Stark gene: FUK was added gene: FUK was added to Congenital disorders of glycosylation. Sources: Expert list 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 with defective fucosylation 2, MIM# 618324 Review for gene: FUK was set to AMBER Added comment: Two unrelated individuals reported. Sources: Expert list |