PanelApp
  1. Genes and Genomic Entities
  2. CTPS1

CTPS1

CTP synthase 1
OMIM: 123860, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CTPS1 in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 24, MIM# 615897
  • Recurrent/chronic bacterial and viral infections (EBV, VZV)
  • EBV lymphoproliferation
  • B-cell non-Hodgkin lymphoma

Green CTPS1 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.138

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 24, MIM# 615897
    • Recurrent/chronic bacterial and viral infections (EBV, VZV)
    • EBV lymphoproliferation
    • B-cell non-Hodgkin lymphoma

    Green CTPS1 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.33

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 24, MIM# 615897
    • Recurrent/chronic bacterial and viral infections (EBV, VZV)
    • EBV lymphoproliferation
    • B-cell non-Hodgkin lymphoma

    Green CTPS1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Immunodeficiency 24, 615897 (3)

    Green CTPS1 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Immunodeficiency 24, 615897 (3)
    Tags
    • founder

    Green CTPS1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Immunodeficiency 24, MIM# 615897
    Tags
    • treatable
    • immunological