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 1.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475