NLRP1

NLR family pyrin domain containing 1
OMIM: 606636, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green NLRP1 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoinflammation with arthritis and dyskeratosis, MIM# 617388
  • Palmoplantar carcinoma, multiple self-healing, MIM# 615225
  • Recurrent respiratory papillomatosis

Green NLRP1 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.132

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Palmoplantar carcinoma, multiple self-healing, OMIM # 615225

Red NLRP1 in Susceptibility to Viral Infections


Level 2: Immunological disorders
Version 0.117

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Recurrent respiratory papillomatosis

    Green NLRP1 in Systemic Autoinflammatory Disease_Periodic Fever


    Level 2: Immunological disorders
    Version 1.47

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Autoinflammation with arthritis and dyskeratosis, MIM# 617388
    • Palmoplantar carcinoma, multiple self-healing 615225
    • Recurrent respiratory papillomatosis