FUK

fucokinase
OMIM: 608675, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green FUK in Congenital disorders of glycosylation Level 2: Metabolic Version 7.15 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324 congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777 Tags new-gene-name
Green FUK in Likely inborn error of metabolism Level 2: Metabolic Version 8.100 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324 congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777 Tags new-gene-name
Green FUK in DDG2P Version 6.440 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION Tags new-gene-name
Green FUK in Early onset or syndromic epilepsy Level 2: Neurology Version 8.162 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Literature Phenotypes Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324 congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777 Tags new-gene-name
Green FUK in Intellectual disability Level 2: Developmental disorders Version 9.336 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Expert Review Literature Phenotypes Congenital disorder of glycosylation with defective fucosylation 2, OMIM:618324 Tags new-gene-name