IL1RN

interleukin 1 receptor antagonist
OMIM: 147679
PanelMode of inheritanceDetails
3 panels
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Interleukin 1 receptor antagonist deficiency 612852, sterile multifocal osteomyelitis, periostitis, and pustulosis, Other autoinflammatory diseases with known genetic defect, DIRA, Neonatal onset of sterile multifocal osteomyelitis, periostitis and pustulosis., Autoinflammatory Disorders
R-numbers: R332
Signed-off version 1.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS, OMPP, Recurrent pustular psoriasis
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Interleukin 1 receptor antagonist deficiency 612852, Interleukin 1 receptor antagonist deficiency 612852