POFUT1

protein O-fucosyltransferase 1
OMIM: 607491, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber POFUT1 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.66

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dowling-Degos disease 2 (MIM# 615327)

    Green POFUT1 in Mendeliome


    Version 1.2655

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dowling-Degos disease 2 (MIM# 615327)

    Green POFUT1 in Hereditary Pigmentary Disorders


    Level 2: Dermatological disorders
    Version 1.3

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dowling-Degos disease MONDO:0008371