NLRP12

NLR family pyrin domain containing 12
OMIM: 609648, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green NLRP12 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 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 1.141

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


Version 4.201
Latest signed off version: v4.0 (22 Mar 2023)

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
Amber NLRP12 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Familial cold autoinflammatory syndrome 2, OMIM:611762
    • sensorineural hearing loss disorder, MONDO:0020678
    Tags
    • Q2_24_promote_green
    Green NLRP12 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
    • Familial cold autoinflammatory syndrome 2, OMIM:611762
    Green NLRP12 in Autoinflammatory disorders

    Level 3: Primary immunodeficiency disorders
    Level 2: Haematological disorders
    Version 1.17
    Latest signed off version: v1.0 (30 Nov 2022)

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