PanelApp (test)
  1. Genes and Genomic Entities
  2. FUT8

FUT8

fucosyltransferase 8
OMIM: 602589, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green FUT8 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.44

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital disorder of glycosylation with defective fucosylation, 618005

    Green FUT8 in Mendeliome


    Version 1.1902

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation with defective fucosylation 1 MONDO:0020775

    Green FUT8 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital disorder of glycosylation with defective fucosylation, 618005

    Green FUT8 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital disorder of glycosylation with defective fucosylation 1, MIM#618005

    Green FUT8 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Congenital disorder of glycosylation with defective fucosylation 1, OMIM:618005
    • Congenital disorder of glycosylation with defective fucosylation 1, MONDO:0020775