SKAP2

src kinase associated phosphoprotein 2
OMIM: 605215, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red SKAP2 in Mendeliome


Version 1.4215

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Inborn error of immunity, MONDO:0003778

Red SKAP2 in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 2.45

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Inborn error of immunity, MONDO:0003778