Genomics England
GMS Panels
Panels
Genes and Entities

CARD9

caspase recruitment domain family member 9
OMIM: 607212
PanelMode of inheritanceDetails
2 panels
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Candidiasis, familial, 2, 212050, CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency, Invasive candidiasis infection, deep dermatophytoses, other invasive fungal infections, Defects in Intrinsic and Innate Immunity
Green
in Rare genetic inflammatory skin disorders
R-numbers: R332
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deep dermatophytosis, MONDO:0018335