Genomics England
GMS Panels
Panels
Genes and Entities

DEF6

DEF6, guanine nucleotide exchange factor
OMIM: 610094
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 87 and autoimmunity, OMIM:619573, Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections