CD247

CD247 molecule
OMIM: 186780, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green CD247 in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • SCID v1.6
  • GOSH PID v.8.0
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • SCID v1.6
Phenotypes
  • ?Immunodeficiency 25
  • T-B+ severe combined immunodeficiency due to CD3zeta
  • Immunodeficiency 25, 610163
  • Nl NK, no g/d T cells
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Immunodeficiencies affecting cellular and humoral immunity
  • T-B+ SCID
  • Severe combined immunodeficiency (SCID)
Green CD247 in Primary immunodeficiency or monogenic inflammatory bowel disease


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • SCID v1.6
Phenotypes
  • T-B+ severe combined immunodeficiency due to CD3zeta
  • ?Immunodeficiency 25
  • T-B+ SCID
  • Immunodeficiency 25, 610163
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Severe combined immunodeficiency (SCID)
  • Nl NK, no g/d T cells
  • Immunodeficiencies affecting cellular and humoral immunity
Green CD247 in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 25, 610163