Genomics England
GMS Panels
Panels
Genes and Entities

NLRP5

NLR family pyrin domain containing 5
OMIM: 609658
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
Phenotype resulting from under expression: Biparental complete hydatidiform mole, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder, Affected tissue: all