Congenital Disorders of Glycosylation
Gene: FUK
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: LiteratureCreated: 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
Publications for gene: FUK were set to 30503518
Gene: fuk has been classified as Green List (High Evidence).
Gene: fuk has been classified as Amber List (Moderate Evidence).
Gene: fuk has been classified as Amber List (Moderate Evidence).
gene: FUK was added gene: FUK was added to Congenital Disorders of Glycosylation. Sources: Literature 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