Hypertension and Aldosterone disorders
Gene: NPR1
NPR1 (natriuretic peptide receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000169418
EnsemblGeneIds (GRCh37): ENSG00000169418
OMIM: 108960, Gene2Phenotype
NPR1 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000169418
EnsemblGeneIds (GRCh37): ENSG00000169418
OMIM: 108960, Gene2Phenotype
NPR1 is in 3 panels
1 review
Lilian Downie (Victorian Clinical Genetics Services)
4 sibs with systemic hypertension in the neonatal period - presenting with cardiogenic shock, with homozygous variants (consanguineous parents), parents confirmed heterozygotes. 3/4 infants had increased NT (>3.5) in utero
RT-PCR shows dramatic reduction of RNA levels
2 sibs in a second family, normal NT and pregnancy, neonatal systematic hypertension presenting with cardiogenic shock,
Sources: LiteratureCreated: 1 Jun 2023, 1:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Genetic hypertension MONDO:0015512
Publications
- PMID: 37080586
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Genetic hypertension MONDO:0015512
- OMIM
- 108960
- Clinvar variants
- Variants in NPR1
- Penetrance
- None
- Publications
-
- PMID: 37080586
- Panels with this gene
History Filter Activity
1 Jun 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: npr1 has been classified as Green List (High Evidence).
1 Jun 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: npr1 has been classified as Green List (High 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 Hypertension and Aldosterone disorders. 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 GREEN