Multi locus imprinting disorders
Gene: NLRP5Comment on mode of inheritance: Review from Eamonn Maher: I think it would be better that these are maternal effect genes for which biallelic variants in a healthy women cause a reproductive phenotype that may include miscarriage, hydatidiform mole or children with a congenital imprinting disorderCreated: 21 Apr 2021, 2:41 p.m. | Last Modified: 21 Apr 2021, 2:41 p.m.
Panel Version: 0.95
Comments from Prof Ian Morison (Department of Pathology, University of Otago) NLRP5 is a component of the subcortical maternal complex. Required for the establishment of imprinting, but not imprinted itself.Created: 2 Feb 2021, 5:36 p.m. | Last Modified: 2 Feb 2021, 5:36 p.m.
Panel Version: 0.84
Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust) for the involvement of NLRP5 variants in Multi Locus Imprinting Disturbances.Created: 2 Feb 2021, 2:45 p.m. | Last Modified: 2 Feb 2021, 2:45 p.m.
Panel Version: 0.72
Comment on mode of inheritance: MOI based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).Created: 2 Feb 2021, 2:33 p.m. | Last Modified: 2 Feb 2021, 2:33 p.m.
Panel Version: 0.68
http://www.imprinting-disorders.eu/?page_id=1112. This is (c) gene whose mutation deranges imprinting in trans.Created: 4 May 2017, 2:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Phenotype resulting from under expression: Biparental complete hydatidiform mole, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder; Affected tissue: all
Publications
Tag gene-checked tag was added to gene: NLRP5.
gene: NLRP5 was added gene: NLRP5 was added to Multi locus imprinting disorders. Sources: Imprinting GeCIP Subdomain,Expert Review Green Mode of inheritance for gene: NLRP5 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NLRP5 were set to 26323243; 31201414; 31829238 Phenotypes for gene: NLRP5 were set to Phenotype resulting from under expression: Biparental complete hydatidiform mole, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder; Affected tissue: all Penetrance for gene: NLRP5 were set to Complete