Multi locus imprinting disorders

Gene: NLRP5

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #620333) and the OMIM record was last accessed on 18 December 2025.

Created: 18 Dec 2025, 10:07 p.m. | Last Modified: 18 Dec 2025, 10:07 p.m.

Panel Version: 1.16

Comment 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 disorder

Created: 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

• PMID: 26323243