POFUT1

protein O-fucosyltransferase 1
OMIM: 607491, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber POFUT1 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

1 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 2.0

1 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 2.0

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