Genomics England
GMS Panels
Panels
Genes and Entities

NLRP7

NLR family pyrin domain containing 7
OMIM: 609661
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
Phenotype resulting from under expression: Biparental complete hydatidiform mole, Affected tissue: all (incompatible with life), Multi Locus Imprinting Disturbance, hydatidiform mole, recurrent, 1 MONDO:0009273