Hydrops fetalis

Gene: NPR1

Red List (low evidence)

NPR1 (natriuretic peptide receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000169418
EnsemblGeneIds (GRCh37): ENSG00000169418
OMIM: 108960, Gene2Phenotype
NPR1 is in 3 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

single family (4 affected infants) with neonatal hypertension/cardiogenic shock
3/4 sibs had NT >3.5
a slight reduction in the expected number of homozygous
Npr1 knockout mutant mice was statistically significant and
is related to fetal hydrops observed in approximately 10% of
homozygous embryos

Sources: Literature
Created: 1 Jun 2023, 1:35 a.m. | Last Modified: 1 Jun 2023, 1:42 a.m.
Panel Version: 0.300

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Genetic hypertension MONDO:0015512

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Genetic hypertension MONDO:0015512
OMIM
108960
Clinvar variants
Variants in NPR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: npr1 has been classified as Red List (Low Evidence).

1 Jun 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: npr1 has been classified as Red List (Low Evidence).

1 Jun 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

gene: NPR1 was added gene: NPR1 was added to Hydrops fetalis. Sources: Literature Mode of inheritance for gene: NPR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPR1 were set to PMID: 37080586 Phenotypes for gene: NPR1 were set to Genetic hypertension MONDO:0015512 Review for gene: NPR1 was set to RED