SCID
Gene: CD3D

CD3D (CD3d molecule)
EnsemblGeneIds (GRCh38): ENSG00000167286
EnsemblGeneIds (GRCh37): ENSG00000167286
OMIM: 186790, Gene2Phenotype
CD3D 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, 2:01 p.m.

Comment on list classification: Agreement from 5 reviewers.
Created: 20 May 2016, 2:01 p.m.

Created: 20 May 2016, 2:01 p.m.

Panel version: 0.9

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
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive,
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
T-B+ SCID

OMIM

186790

Clinvar variants

Variants in CD3D

Penetrance

Complete

Panels with this gene