Genomics England
GMS Panels
Panels
Genes and Entities

C17orf62

chromosome 17 open reading frame 62
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chronic granulomatous disease 5, autosomal recessive, OMIM:618935, Autosomal recessive CGD EROS, Congenital defects of phagocyte number or function, Chronic granulomatous disease