Genomics England
GMS Panels
Panels
Genes and Entities

CD27

CD27 molecule
OMIM: 186711
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lymphoproliferative syndrome 2, Combined immunodeficiency with EBV-associated lymphoproliferation, Combined immunodeficiency, CD27 deficiency, Features triggered by EBV infection, HLH, aplastic anemia, low iNKT cells, lymphoma, Diseases of Immune Dysregulation