IL1RN

interleukin 1 receptor antagonist
OMIM: 147679, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green IL1RN in Periodic fever syndromes

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.12

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Interleukin 1 receptor antagonist deficiency, 612852
  • OMPP
  • DIRA syndrome
  • recurrent fever

Green IL1RN in COVID-19 research


Level 2: Viral research
Version 1.69

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Other autoinflammatory diseases with known genetic defect
  • DIRA
  • Interleukin 1 receptor antagonist deficiency 612852
  • Autoinflammatory Disorders
  • sterile multifocal osteomyelitis, periostitis, and pustulosis
  • Neonatal onset of sterile multifocal osteomyelitis, periostitis and pustulosis.

No list IL1RN in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.59

review Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Gastric cancer risk after H. pylori infection}, 137215
  • {Microvascular complications of diabetes 4}, 612628
  • Interleukin 1 receptor antagonist deficiency, 612852

Green IL1RN in Rare genetic inflammatory skin disorders


Version 1.7
Signed off v.1.6 on 15 Oct 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS
  • OMPP
  • Recurrent pustular psoriasis

Green IL1RN in Primary immunodeficiency


Version 2.369
Signed off v.2.1 on 24 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
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

Green IL1RN in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.32
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert list
    Phenotypes
    • Interleukin 1 receptor antagonist deficiency 612852
    • Interleukin 1 receptor antagonist deficiency 612852

    Green IL1RN in Severe Paediatric Disorders


    Version 1.19

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Interleukin 1 receptor antagonist deficiency, 612852