Genomics England
GMS Panels
Panels
Genes and Entities

POFUT1

protein O-fucosyltransferase 1
OMIM: 607491
PanelMode of inheritanceDetails
1 panel
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
DOWLING-DEGOS DISEASE 2, DDD2, Dowling-Degos disease