Genomics England
GMS Panels
Panels
Genes and Entities

CD3D

CD3d molecule
OMIM: 186790
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 19, Severe Combined Immune Deficiency, Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, T-B+ SCID, CD3d deficiency, Atypical Severe Combined Immunodeficiency (Atypical SCID), Severe combined immunodeficiency (SCID), Nl NK, no g/d T cells, Immunodeficiencies affecting cellular and humoral immunity