Genomics England
GMS Panels
Panels
Genes and Entities

CTPS1

CTP synthase 1
OMIM: 123860
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
Immunodeficiency 24, 615897, Severe combined immunodeficiency due to CTPS1 deficiency, Patients develop Epstein-Barr Virus (EBV) driven Hemophagocytic Lymphohistiocytosis (HLH ), Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma, Diseases of Immune Dysregulation