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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: CTPS1

Green List (high evidence)
CTPS1 (CTP synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000171793
EnsemblGeneIds (GRCh37): ENSG00000171793
OMIM: 123860, Gene2Phenotype
CTPS1 is in 2 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
Phenotypes
  • EBV lymphoproliferation
  • Immunodeficiency 24, MIM#615897
  • B-cell non-Hodgkin lymphoma
  • Recurrent/chronic bacterial and viral infections (EBV, VZV)
OMIM
123860
Clinvar variants
Variants in CTPS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: CTPS1 was added gene: CTPS1 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services 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 EBV lymphoproliferation; Immunodeficiency 24, MIM#615897; B-cell non-Hodgkin lymphoma; Recurrent/chronic bacterial and viral infections (EBV, VZV)