FUK

fucokinase
OMIM: 608675, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green FUK in Congenital disorders of glycosylation


Level 2: Metabolic
Version 8.8
Latest signed off version: v8.7 (12 Aug 2026)

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 9.30
    Latest signed off version: v9.29 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • 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 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    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 9.57
    Latest signed off version: v9.56 (12 Aug 2026)

    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 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • 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