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  2. Disorders of immune dysregulation
  3. CTPS1
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Disorders of immune dysregulation

Gene: CTPS1

Green List (high evidence)
CTPS1 (CTP synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000171793
EnsemblGeneIds (GRCh37): ENSG00000171793
OMIM: 123860, Gene2Phenotype
CTPS1 is in 6 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

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

  • https://search.clinicalgenome.org/CCID:008376

Created: 8 Nov 2024, 4:38 a.m.
Last Modified: 8 Nov 2024, 4:38 a.m.
Panel version: Imported from Mendeliome panel version 1.2094

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 families reported.
Sources: Expert list
Created: 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

Created: 5 Apr 2020, 4:18 a.m.

Panel version: 0.38

Details

Mode of Inheritance
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
OMIM
123860
Clinvar variants
Variants in CTPS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctps1 has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctps1 has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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