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Genomic imprinting

Gene: NLRP5

Green List (high evidence)

NLRP5 (NLR family pyrin domain containing 5)
EnsemblGeneIds (GRCh38): ENSG00000171487
EnsemblGeneIds (GRCh37): ENSG00000171487
OMIM: 609658, Gene2Phenotype
NLRP5 is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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

Ellen McDonagh (Genomics England Curator)

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

Details

Mode of Inheritance
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
OMIM
609658
Clinvar variants
Variants in NLRP5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NLRP5 were changed from Phenotype resulting from under expression: Biparental complete hydatidiform mole, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder; Affected tissue: all to Phenotype resulting from under expression: Biparental complete hydatidiform mole, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder; Affected tissue: all

21 Apr 2021, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: NLRP5 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

2 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: nlrp5 has been classified as Green List (High Evidence).

2 Feb 2021, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: NLRP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

12 Jan 2021, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NLRP5 were set to PMID: 26323243

4 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NLRP5 was created by ellenmcdonagh

4 May 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NLRP5 was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain