Genomics England
GMS Panels
Panels
Genes and Entities

CD247

CD247 molecule
OMIM: 186780
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.123
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
T-B+ severe combined immunodeficiency due to CD3zeta, ?Immunodeficiency 25, T-B+ SCID, Immunodeficiency 25, 610163, Atypical Severe Combined Immunodeficiency (Atypical SCID), Severe combined immunodeficiency (SCID), Nl NK, no g/d T cells, Immunodeficiencies affecting cellular and humoral immunity