NLRP7

NLR family pyrin domain containing 7
OMIM: 609661, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green NLRP7 in Genomic imprinting Version 0.149	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Imprinting GeCIP Subdomain 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
Amber NLRP7 in Growth failure in early childhood Version 3.94 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes IUGR Short stature fetal wastage Multi Locus Imprinting Disturbance Hydatidiform mole, recurrent, 1 OMIM:231090 hydatidiform mole, recurrent, 1 MONDO:0009273
Green NLRP7 in Multi locus imprinting disorders Level 2: Endocrinology Version 1.6 Latest signed off version: v1.2 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Imprinting GeCIP Subdomain 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