FCSK

fucose kinase
OMIM: 608675, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green FCSK in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324

    Green FCSK in Mendeliome


    Version 2.49

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324

    Green FCSK in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.6

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324

    Green FCSK in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.8

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324