Congenital disorders of glycosylation
Gene: FUKEnsemblGeneIds (GRCh38): ENSG00000157353
EnsemblGeneIds (GRCh37): ENSG00000157353
OMIM: 608675, Gene2Phenotype
FUK is in 5 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:41 p.m. | Last Modified: 24 Feb 2025, 5:41 p.m.
Panel Version: 6.10
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
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, 2:31 p.m. | Last Modified: 19 Jul 2024, 2:31 p.m.
Panel Version: 5.8
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, 2:29 p.m. | Last Modified: 19 Jul 2024, 2:29 p.m.
Panel Version: 5.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation with defective fucosylation 2, OMIM:618324
Publications
Sarah Leigh (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324
- congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777
- Tags
- OMIM
- 608675
- Clinvar variants
- Variants in FUK
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag watchlist was removed from gene: FUK. Tag Q3_24_promote_green was removed from gene: FUK.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to FUK. Source NHS GMS was added to FUK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: FUK.
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: fuk has been classified as Amber List (Moderate Evidence).
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: FUK were set to 30503518
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: fuk has been classified as Amber List (Moderate Evidence).
Added Tag
Sarah Leigh (Genomics England Curator)Tag watchlist tag was added to gene: FUK.
Added Tag
Sarah Leigh (Genomics England Curator)Tag new-gene-name tag was added to gene: FUK.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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