Genes in panel

Inborn errors of metabolism

Gene: FUK

Amber List (moderate evidence)

FUK (fucokinase)
EnsemblGeneIds (GRCh38): ENSG00000157353
EnsemblGeneIds (GRCh37): ENSG00000157353
OMIM: 608675, Gene2Phenotype
FUK is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

I don't know

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 FCSK
Created: 8 Feb 2021, 1:30 p.m. | Last Modified: 8 Feb 2021, 1:30 p.m.
Panel Version: 2.37

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated individuals reported.
Sources: Expert list
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324
  • congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777
Tags
watchlist new-gene-name
OMIM
608675
Clinvar variants
Variants in FUK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Aug 2021, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: FUK was added gene: FUK was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list watchlist, new-gene-name tags were added to gene: FUK. 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 OMIM:618324; congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777