CD48

CD48 molecule
OMIM: 109530, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CD48 in Mendeliome


Version 2.109

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Inborn error of immunity, MONDO:0003778, CD48-related

Amber CD48 in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 2.2

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Inborn error of immunity, MONDO:0003778, CD48-related

    Amber CD48 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 3.9

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Inborn error of immunity, MONDO:0003778, CD48-related