Disorders of immune dysregulation
Gene: CTPS1
Classified as DEFINITIVE by ClinGen Primary Immune Regulatory Disorders GCEP on 17/09/2024.Created: 8 Nov 2024, 4:38 a.m. | Last Modified: 8 Nov 2024, 4:38 a.m.
Panel Version: 1.2094
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe combined immunodeficiency due to CTPS1 deficiency MONDO:0014391
Publications
At least 5 families reported.
Sources: Expert listCreated: 5 Apr 2020, 4:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 24, MIM# 615897; Recurrent/chronic bacterial and viral infections (EBV, VZV); EBV lymphoproliferation; B-cell non-Hodgkin lymphoma
Publications
Gene: ctps1 has been classified as Green List (High Evidence).
Gene: ctps1 has been classified as Green List (High Evidence).
gene: CTPS1 was added gene: CTPS1 was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTPS1 were set to 24870241 Phenotypes for gene: CTPS1 were set to Immunodeficiency 24, MIM# 615897; Recurrent/chronic bacterial and viral infections (EBV, VZV); EBV lymphoproliferation; B-cell non-Hodgkin lymphoma Review for gene: CTPS1 was set to GREEN