Congenital disorders of glycosylation
Gene: FUK
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least three variants reported in two unrelated cases.Created: 8 Feb 2021, 1:35 p.m. | Last Modified: 8 Feb 2021, 1:35 p.m.
Panel Version: 2.38
FUK is the old gene symbol for fucose kinase, the new gene symbol is FCSKCreated: 8 Feb 2021, 1:30 p.m. | Last Modified: 8 Feb 2021, 1:30 p.m.
Panel Version: 2.37
Two unrelated individuals reported.
Sources: Expert listCreated: 22 Jul 2020, 8:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Publications
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
Gene: fuk has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: FUK.
Tag new-gene-name tag was added to gene: FUK.
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