NLRP12:Ensemblv90

NLR family pyrin domain containing 12
OMIM: 609648, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green NLRP12 in Vasculitis


Level 2: Immunological disorders
Version 0.95

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Familial cold autoinflammatory syndrome 2 - MIM#611762

Green NLRP12 in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Familial cold autoinflammatory syndrome 2 - MIM#611762

Amber NLRP12 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Familial cold autoinflammatory syndrome 2 - MIM#611762

Green NLRP12 in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 2.40

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Familial cold autoinflammatory syndrome 2 - MIM#611762

    Green NLRP12 in Vasculitis


    Level 2: Immunological disorders
    Version 1.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Familial cold autoinflammatory syndrome 2 - MIM#611762

    Amber NLRP12 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 2.0

    3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    Phenotypes
    • Familial cold autoinflammatory syndrome 2 - MIM#611762

    Green NLRP12 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 3.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Expert Review Green
    Phenotypes
    • Familial cold autoinflammatory syndrome 2 - MIM#611762