Genomic imprinting
Gene: NLRP7EnsemblGeneIds (GRCh38): ENSG00000167634
EnsemblGeneIds (GRCh37): ENSG00000167634
OMIM: 609661, Gene2Phenotype
NLRP7 is in 2 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 disorderCreated: 21 Apr 2021, 2:42 p.m. | Last Modified: 21 Apr 2021, 2:42 p.m.
Panel Version: 0.96
Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust) for the involvement of NLRP7 variants in Multi Locus Imprinting Disturbances.Created: 2 Feb 2021, 2:46 p.m. | Last Modified: 2 Feb 2021, 2:46 p.m.
Panel Version: 0.73
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, 2:35 p.m. | Last Modified: 2 Feb 2021, 2:35 p.m.
Panel Version: 0.69
Ellen McDonagh (Genomics England Curator)
This is (c) gene whose mutation deranges imprinting in trans.Created: 4 May 2017, 2:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phenotype resulting from under expression: Biparental complete hydatidiform mole; Affected tissue: all (incompatible with life)
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
- Affected tissue: all (incompatible with life)
- Multi Locus Imprinting Disturbance
- hydatidiform mole, recurrent, 1 MONDO:0009273
- OMIM
- 609661
- Clinvar variants
- Variants in NLRP7
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: NLRP7 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
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: nlrp7 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: NLRP7 were changed from Phenotype resulting from under expression: Biparental complete hydatidiform mole; Affected tissue: all (incompatible with life); Multi Locus Imprinting Disturbance to 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
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: NLRP7 were changed from Phenotype resulting from under expression: Biparental complete hydatidiform mole; Affected tissue: all (incompatible with life) to Phenotype resulting from under expression: Biparental complete hydatidiform mole; Affected tissue: all (incompatible with life); Multi Locus Imprinting Disturbance
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: NLRP7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: NLRP7 were set to PMID: 16462743; 19246479;
Created
Ellen McDonagh (Genomics England Curator)NLRP7 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)NLRP7 was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain