Genomics England
GMS Panels
Panels
Genes and Entities

WDR1

WD repeat domain 1
OMIM: 604734
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mild neutropenia, poor wound healing, severe stomatitis, neutrophil nuclei herniate, Congenital defects of phagocyte number or function