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Newborns main panel

Gene: CTPS1

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Awareness.

Additional Information: All patients reported so far are homozygous for the same splice site variant: c.1692-1G>C, p.T566Dfs26X (PMID: 32161190).
Created: 25 Sep 2024, 4:15 p.m. | Last Modified: 25 Sep 2024, 4:15 p.m.
Panel Version: 0.469
Created: 25 Sep 2024, 4:15 p.m.
Last Modified: 25 Sep 2024, 4:15 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://pubmed.ncbi.nlm.nih.gov/32161190/
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 24
Tags
special_consideration
OMIM
123860
Clinvar variants
Variants in CTPS1
Penetrance
None
Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: CTPS1.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 24 for gene: CTPS1

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 24 for gene: CTPS1

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 24 for gene: CTPS1

15 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: CTPS1 were changed from HM3 Immunodeficiency 24; Immunodeficiency 24 to Immunodeficiency 24

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CTPS1. Added phenotypes Immunodeficiency 24 for gene: CTPS1 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to CTPS1. Added phenotypes HM3 Immunodeficiency 24 for gene: CTPS1 Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes HM3 Immunodeficiency 24 for gene: CTPS1

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CTPS1 was added gene: CTPS1 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal