CD3E

Green CD3E in ClinGen Gene Validity Curations

Version 0.65

Sources

• ClinGen
• Expert Review Green
• Other

Phenotypes

• Immunodeficiency 18
• ORPHA183660
• OMIM 615615

Green CD3E in COVID-19 research

Level 2: Viral research
Version 1.142

Sources

• IUIS Classification February 2018
• SCID v1.6
• London North GLH
• GOSH PID v.8.0
• NHS GMS
• GRID V2.0
• Victorian Clinical Genetics Services
• North West GLH
• ESID Registry 20171117
• Expert Review Green
• NHS GMS
• North West GLH
• London North GLH
• IUIS Classification February 2018
• Victorian Clinical Genetics Services
• Expert Review Green
• ESID Registry 20171117
• GRID V2.0
• GOSH PID v.8.0
• SCID v1.6

Phenotypes

• Immunodeficiency due to defect in CD3-epsilon
• Severe Combined Immune Deficiency
• Atypical Severe Combined Immunodeficiency (Atypical SCID)
• Nl NK, no g/d T cells
• Immunodeficiencies affecting cellular and humoral immunity
• T-B+ SCID
• Immunodeficiency 18, SCID variant
• Severe combined immunodeficiency (SCID)
• CD3e deficiency

Green CD3E in Primary immunodeficiency or monogenic inflammatory bowel disease

Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• Other
• NHS GMS
• North West GLH
• London North GLH
• IUIS Classification February 2018
• Victorian Clinical Genetics Services
• ESID Registry 20171117
• GRID V2.0
• GOSH PID v.8.0
• SCID v1.6

Phenotypes

• Immunodeficiency 18, SCID variant
• Severe Combined Immune Deficiency
• Immunodeficiency due to defect in CD3-epsilon
• T-B+ SCID
• CD3e deficiency
• Atypical Severe Combined Immunodeficiency (Atypical SCID)
• Severe combined immunodeficiency (SCID)
• Nl NK, no g/d T cells
• Immunodeficiencies affecting cellular and humoral immunity

Green CD3E in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Immunodeficiency 18, SCID variant, 615615
• Immunodeficiency 18, 615615