POFUT1

protein O-fucosyltransferase 1
OMIM: 607491, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber POFUT1 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 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 1.1891

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