NLRP2

NLR family pyrin domain containing 2
OMIM: 609364, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green NLRP2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • female infertility
  • early embryonic arrest

Amber NLRP2 in Growth failure


Version 1.76

review Other
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Maternal effect gene- causing phenotypes that include IUGR

Green NLRP2 in Imprinting disorders


Version 1.3

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475
  • Early embryonic arrest
  • Multi locus imprinting disturbance in offspring