NLRP5

NLR family pyrin domain containing 5
OMIM: 609658, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green NLRP5 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, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder Affected tissue: all
No list NLRP5 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert Review Removed DD-Gene2Phenotype Phenotypes Multilocus imprinting disorder Tags curated_removed
Amber NLRP5 in Growth failure in early childhood Version 3.88 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 Failure to thrive body asymmetry multilocus imprinting disturbances
Green NLRP5 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, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder Affected tissue: all Tags gene-checked