FUK:Ensemblv90

fucokinase
OMIM: 608675, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green FUK in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.80

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 FUK in Mendeliome


    Version 1.3802

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

    Green FUK in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.309

    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 FUK in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

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

    Green FUK in Congenital Disorders of Glycosylation


    Level 2: Metabolic disorders
    Version 2.0

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

    Green FUK in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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

    Green FUK in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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