Growth failure
Gene: NLRP7EnsemblGeneIds (GRCh38): ENSG00000167634
EnsemblGeneIds (GRCh37): ENSG00000167634
OMIM: 609661, Gene2Phenotype
NLRP7 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
A number of patients with IUGR and failure of catch up have an imprinting error (within the spectrum of Silver Russell syndrome) caused by mutations in NLRP7 in the MOTHER of the patient. Some of the affected pregnancies fail to progress.
Note that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multi-locus imprinting disturbance through methylation testing or vice versa, methylation abnormalities in offspring may prompt genomic evaluation of the mother.
Current trio filtering protocols may not account for this adequately.Created: 3 Sep 2021, 3:30 a.m. | Last Modified: 3 Sep 2021, 3:30 a.m.
Panel Version: 0.398
Mode of inheritance
Other
Phenotypes
IUGR
Publications
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Amber
- Genomics England PanelApp
- Phenotypes
-
- IUGR
- OMIM
- 609661
- Clinvar variants
- Variants in NLRP7
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nlrp7 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NLRP7 were changed from hydatidiform mole, recurrent, 1 MONDO:0009273; Short stature; fetal wastage; Hydatidiform mole, recurrent, 1 OMIM:231090; IUGR; Multi Locus Imprinting Disturbance to IUGR
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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 Other
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NLRP7 was added gene: NLRP7 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber Mode of inheritance for gene: NLRP7 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NLRP7 were set to 28561018 Phenotypes for gene: NLRP7 were set to hydatidiform mole, recurrent, 1 MONDO:0009273; Short stature; fetal wastage; Hydatidiform mole, recurrent, 1 OMIM:231090; IUGR; Multi Locus Imprinting Disturbance