Genomics England
GMS Panels
Panels
Genes and Entities

PTPRC

protein tyrosine phosphatase, receptor type C
OMIM: 151460
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
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, {Hepatitic C virus, susceptibility to}, 609532, T-B+ SCID, CD45 deficiency, Omenn syndrome, Severe combined immunodeficiency (SCID), Nl g/d T cells, Immunodeficiencies affecting cellular and humoral immunity