CD247

CD247 molecule
OMIM: 186780, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CD247 in Mendeliome


Version 2.0

1 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


Level 2: Immunological disorders
Version 2.0

1 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 Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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