NLRC4

NLR family CARD domain containing 4
OMIM: 606831, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red NLRC4 in Periodic fever syndromes

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.33

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Autoinflammation with infantile enterocolitis, OMIM:616050
  • ?Familial cold autoinflammatory syndrome 4, OMIM:616115
Red NLRC4 in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Autoinflammation with infantile enterocolitis, OMIM:616050
Green NLRC4 in COVID-19 research


Level 2: Viral research
Version 1.142

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • North West GLH
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Autoinflammation with infantile enterocolitis, OMIM:616050
  • ?Familial cold autoinflammatory syndrome 4, OMIM:616115
  • Severe enterocolitis and macrophage activation syndrome
  • Autoinflammatory Disorders
Green NLRC4 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 5.1
Latest signed off version: v5.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Autoinflammation with infantile enterocolitis, OMIM:616050
  • ?Familial cold autoinflammatory syndrome 4, OMIM:616115
  • Severe enterocolitis and macrophage activation syndrome
  • Autoinflammatory Disorders
Green NLRC4 in Severe Paediatric Disorders


Version 1.184

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Autoinflammation with infantile enterocolitis, OMIM:616050
  • ?Familial cold autoinflammatory syndrome 4, OMIM:616115
Green NLRC4 in Autoinflammatory disorders

Level 3: Primary immunodeficiency disorders
Level 2: Haematological disorders
Version 2.1
Latest signed off version: v2.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Autoinflammation with infantile enterocolitis, OMIM:616050
  • ?Familial cold autoinflammatory syndrome 4, OMIM:616115