Congenital Disorders of Glycosylation

Gene: FUK

Green List (high evidence)

PMID: 35718084: Reporting on 3 unrelated patients from literature and 1 new patient. All reported to have mild-severe intellectual disability, developmental delay and brain abnormalities, and 3/4 present with seizures. Phenotypes are childhood onset. Homozygous and compound heterozygous variants have been reported.

PMID: 36426412: Reporting on new 1 patient (homozygous missense). Not affected by intellectual disability, developmental delay, or brain abnormalities. Presents with seizures. Loss of function suggested due to depletion of the FUK gene expression.

Created: 7 Dec 2023, 3:35 a.m. | Last Modified: 7 Dec 2023, 3:35 a.m.

Panel Version: 1.42

Two unrelated individuals reported.
Sources: Literature

Created: 26 Jan 2020, 7:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324

Publications

• 30503518
• 35718084
• 36426412