Genomics England
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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 7.0
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