1. Genes and Genomic Entities
  2. NLRP12

NLRP12

NLR family pyrin domain containing 12
OMIM: 609648, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green NLRP12 in Periodic fever syndromes

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.34

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Familial cold autoinflammatory syndrome 2, OMIM:611762
Green NLRP12 in COVID-19 research


Level 2: Viral research
Version 1.146

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
  • Familial cold autoinflammatory syndrome 2, OMIM:611762
  • Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure
  • Preterm premature rupture of membranes (PPROM)
  • Autoinflammatory Disorders
Green NLRP12 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

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
  • Familial cold autoinflammatory syndrome 2, OMIM:611762
  • Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure
  • Preterm premature rupture of membranes (PPROM)
  • Autoinflammatory Disorders
Green NLRP12 in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Familial cold autoinflammatory syndrome 2, OMIM:611762
    • sensorineural hearing loss disorder, MONDO:0020678
    Green NLRP12 in Autoinflammatory disorders


    Level 2: Immunology
    Version 2.35
    Latest signed off version: v2.0 (1 May 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Familial cold autoinflammatory syndrome 2, OMIM:611762