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 1.33

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 4.191
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
Green NLRP12 in Severe Paediatric Disorders


Version 1.182

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 1.11
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