NLRP5

NLR family pyrin domain containing 5
OMIM: 609658, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green NLRP5 in Mendeliome


Version 1.2789

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Early embryonic arrest
  • Multi locus imprinting disturbance in offspring

Amber NLRP5 in Growth failure


Version 1.77

review Other
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Short stature
  • Failure to thrive
  • multilocus imprinting disturbances
  • IUGR

Green NLRP5 in Imprinting disorders


Version 1.5

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Phenotype resulting from under expression: Biparental complete hydatidiform mole, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder
  • Affected tissue: all

Green NLRP5 in Infertility and Recurrent Pregnancy Loss


Version 1.7

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 19, MIM# 620333