Genomics England
GMS Panels
Panels
Genes and Entities

C1QC

complement C1q C chain
OMIM: 120575
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
C1q deficiency, 613652, Complement component 1 deficiency, Immunodeficiency due to a classical component pathway complement deficiency, SLE, infections with encapsulated organisms, Complement Deficiencies