Genomics England
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Genes and Entities

C1QB

complement C1q B chain
OMIM: 120570
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 due to an early component of complement deficiency, 613652, C1q deficiency, Complement component 1 deficiency, SLE, lupus-like disease, susceptibility to invasive bacterial infection, SLE, infections with encapsulated organisms, Complement Deficiencies