JAK1

Janus kinase 1
OMIM: 147795, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green JAK1 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
  • Eosinophilia
  • Eosinophilic enteritis
  • Thyroid disease
  • Poor growth
  • Viral infections
  • Susceptibility to mycobacteria and viruses

Green JAK1 in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 0.186

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Eosinophilia
    • Eosinophilic enteritis
    • Thyroid disease
    • Poor growth
    • Viral infections
    • Viral infections
    • Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999

    Amber JAK1 in Defects of innate immunity


    Level 2: Immunological disorders
    Version 0.134

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Susceptibility to mycobacteria and viruses
    • Viral infections
    • Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999

    Green JAK1 in Systemic Autoinflammatory Disease_Periodic Fever


    Level 2: Immunological disorders
    Version 1.47

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999