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Newborns main panel

Gene: CD3E

Green List (high evidence)
CD3E (CD3e molecule)
EnsemblGeneIds (GRCh38): ENSG00000198851
EnsemblGeneIds (GRCh37): ENSG00000198851
OMIM: 186830, Gene2Phenotype
CD3E is in 2 panels

1 review

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
CD3E curation results (clinicalgenome.org)
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 18
OMIM
186830
Clinvar variants
Variants in CD3E
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 18 for gene: CD3E

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 18 for gene: CD3E

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 18 for gene: CD3E

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 CD3E. Added phenotypes Immunodeficiency 18 for gene: CD3E 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 CD3E. Added phenotypes Immunodeficiency 18 for gene: CD3E 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 Immunodeficiency 18 for gene: CD3E

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CD3E was added gene: CD3E was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: CD3E was set to BIALLELIC, autosomal or pseudoautosomal