NLRP5

NLR family pyrin domain containing 5
OMIM: 609658, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
No list NLRP5 in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert Review Removed
    • DD-Gene2Phenotype
    Phenotypes
    • Multilocus imprinting disorder
    Tags
    • curated_removed
    Green NLRP5 in Multi locus imprinting disorders


    Level 2: Endocrinology
    Version 2.1
    Latest signed off version: v2.0 (6 May 2026)

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Imprinting GeCIP Subdomain
    Phenotypes
    • Oocyte/zygote/embryo maturation arrest 19, OMIM:620333
    • oocyte/zygote/embryo maturation arrest 19, MONDO:0957231
    Amber NLRP5 in Monogenic short stature


    Level 2: Endocrinology
    Version 2.1
    Latest signed off version: v2.0 (6 May 2026)

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Oocyte/zygote/embryo maturation arrest 19, OMIM:620333
    • oocyte/zygote/embryo maturation arrest 19, MONDO:0957231