Genomics England
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Genes and Entities

C1QA

complement C1q A chain
OMIM: 120550
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.0
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