Genomic imprinting
Gene: NLRP7Comment 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
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
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
Gene: nlrp7 has been classified as Green List (High Evidence).
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
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
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
Publications for gene: NLRP7 were set to PMID: 16462743; 19246479;
NLRP7 was created by ellenmcdonagh
NLRP7 was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain