Genomics England
GMS Panels
Panels
Genes and Entities

NLRP2

NLR family pyrin domain containing 2
OMIM: 609364
PanelMode of inheritanceDetails
1 panel
Green
in Multi locus imprinting disorders
R-numbers: R417.2
Signed-off version 2.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Oocyte/zygote/embryo maturation arrest 18, OMIM:620332, oocyte/zygote/embryo maturation arrest 18, MONDO:0957230, Beckwith-Wiedemann syndrome due to imprinting defect of 11p15, MONDO:0016475