Genomics England
GMS Panels
Panels
Genes and Entities

JAK1

Janus kinase 1
OMIM: 147795
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autoinflammation, immune dysregulation, and eosinophilia, OMIM:618999