Genomics England
GMS Panels
Panels
Genes and Entities

POGLUT1

protein O-glucosyltransferase 1
OMIM: 615618
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
DDD4, DOWLING-DEGOS DISEASE 4, Dowling-Degos disease