Genomics England
GMS Panels
Panels
Genes and Entities

CFP

complement factor properdin
OMIM: 300383
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Properdin deficiency, Properdin P factor complement deficiency (PFC), Neisserial infections, Complement Deficiencies