CD247

CD247 molecule
OMIM: 186780, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CD247 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 25, MIM# 610163
  • Absent T cells
  • Normal B cells
  • Normal NK cells

Green CD247 in Severe Combined Immunodeficiency (absent T present B cells)


Level 2: Immunological disorders
Version 1.6

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 25, MIM# 610163
    • Absent T cells
    • Normal B cells
    • Normal NK cells

    Green CD247 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Immunodeficiency 25, MIM# 610163
    Tags
    • treatable
    • immunological