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 Disorder (MLID)
R-numbers: R417.2
Signed-off version 2.4
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Oocyte/zygote/embryo maturation arrest 19, OMIM:620333, oocyte/zygote/embryo maturation arrest 19, MONDO:0957231