POFUT1

protein O-fucosyltransferase 1
OMIM: 607491, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green POFUT1 in Pigmentary skin disorders


Level 2: Dermatology
Version 4.13
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • DOWLING-DEGOS DISEASE 2
  • DDD2
  • Dowling-Degos disease