Likely inborn error of metabolism

Gene: FUK

Green List (high evidence)

Comment on list classification: There are five unrelated families reported and hence this gene can be promoted to green rating in the next GMS update.

Created: 19 Jul 2024, 3:56 p.m. | Last Modified: 19 Jul 2024, 3:56 p.m.

Panel Version: 5.23

PMID:35718084 reviewed three previously published cases including the two patients from PMID:30503518 and reported a new patient with biallelic variants in FCSK/ FUK gene. The newly reported patient of Iranian descent was identified with two novel homozygous variants. All four reported individuals presented with mild-severe intellectual disability, developmental delay and brain abnormalities, and three of four patients had seizures. All these phenotypes had their onset in childhood.

PMID:36426412 reported a new patient with a homozygous missense variant and had a milder phenotype. The patient presented with infantile spasm, but not with intellectual disability, developmental delay, or brain abnormalities.

This gene has been associated with relevant phenotypes in OMIM (MIM #618324) and Gene2Phenotype (with 'strong' rating on the DD panel).

Created: 19 Jul 2024, 3:54 p.m. | Last Modified: 19 Jul 2024, 3:54 p.m.

Panel Version: 5.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation with defective fucosylation 2, OMIM:618324

Publications

• 35718084
• 36426412

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 25 Feb 2025, 9:09 a.m. | Last Modified: 25 Feb 2025, 9:09 a.m.

Panel Version: 7.12

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

• 30503518