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  2. Severe Combined Immunodeficiency (absent T present B cells)
  3. CD3E
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Severe Combined Immunodeficiency (absent T present B cells)

Gene: CD3E

Green List (high evidence)
CD3E (CD3e molecule)
EnsemblGeneIds (GRCh38): ENSG00000198851
EnsemblGeneIds (GRCh37): ENSG00000198851
OMIM: 186830, Gene2Phenotype
CD3E is in 3 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

6 individuals from 3 unrelated families reported with bi-allelic (nonsense, del & frameshift) variants resulting in premature stop codons. All individuals presented with T- B+ NK+ SCID.

Other phenotypic features include onset in infancy or early childhood of recurrent infections (otitis media, reparatory and gastrointestinal infections) diarrhoea, decreased Ig levels and failure to thrive.
Created: 28 Sep 2021, 1:56 a.m. | Last Modified: 28 Sep 2021, 1:56 a.m.
Panel Version: 0.28

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 18 MIM# 615615

Publications

Created: 28 Sep 2021, 1:56 a.m.
Last Modified: 28 Sep 2021, 1:56 a.m.
Panel version: 0.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 18 MIM# 615615
Tags
treatable
OMIM
186830
Clinvar variants
Variants in CD3E
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: CD3E.

28 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd3e has been classified as Green List (High Evidence).

28 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CD3E were changed from to Immunodeficiency 18 MIM# 615615

28 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CD3E were set to

28 Sep 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CD3E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CD3E was added gene: CD3E was added to Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CD3E was set to Unknown