CD3E

CD3e molecule
OMIM: 186830, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CD3E in ClinGen Gene Validity Curations


Version 0.64

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Immunodeficiency 18
  • ORPHA183660
  • OMIM 615615

Green CD3E in COVID-19 research


Level 2: Viral research
Version 1.80

review BIALLELIC, autosomal or pseudoautosomal
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


Version 2.480
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
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 1.84

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 18, SCID variant, 615615
  • Immunodeficiency 18, 615615