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Disorders of immune dysregulation v0.39 CTPS1 Zornitza Stark Marked gene: CTPS1 as ready
Disorders of immune dysregulation v0.39 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.39 CTPS1 Zornitza Stark Classified gene: CTPS1 as Green List (high evidence)
Disorders of immune dysregulation v0.39 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.38 CTPS1 Zornitza Stark 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
Added comment: At least 5 families reported.
Sources: Expert list