SCID
Gene: CD3E

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

6 reviews

Christopher Duncan (Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM.
Created: 20 May 2016, 2:02 p.m.

Comment on list classification: Agreement from 5 reviewers.
Created: 20 May 2016, 2:02 p.m.

Created: 20 May 2016, 2:02 p.m.

Panel version: 0.11

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Severe Combined Immune Deficiency
Immunodeficiency due to defect in CD3-epsilon
T-B+ SCID

OMIM

186830

Clinvar variants

Variants in CD3E

Penetrance

Complete

Panels with this gene