Genomics England
GMS Panels
Panels
Genes and Entities

CD3E

CD3e molecule
OMIM: 186830
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
Immunodeficiency 18, SCID variant, Severe Combined Immune Deficiency, Immunodeficiency due to defect in CD3-epsilon, T-B+ SCID, CD3e deficiency, Atypical Severe Combined Immunodeficiency (Atypical SCID), Severe combined immunodeficiency (SCID), Nl NK, no g/d T cells, Immunodeficiencies affecting cellular and humoral immunity