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  3. NPR3
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Fetal anomalies

Gene: NPR3

Red List (low evidence)
NPR3 (natriuretic peptide receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000113389
EnsemblGeneIds (GRCh37): ENSG00000113389
OMIM: 108962, Gene2Phenotype
NPR3 is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Samantha Doyle (The National Maternity Hospital)

Red List (low evidence)

On skeletal dysplasia panel and DDG2P panel. PMID: 30032985- aortic root dilataion, overgrowth. 10468599: Mouse model paper linking gene with skeletal overgrowth. Not enough clinical data linking gene with prenatal phenotype. Isolated dilated aortic root not an indication for R21. Multiple epiphyses not likely to be identified prenatally.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Boudin-Mortier syndrome, MIM#619543

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Boudin-Mortier syndrome, OMIM:619543
OMIM
108962
Clinvar variants
Variants in NPR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: NPR3 was added gene: NPR3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: NPR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPR3 were set to 30032985; 10468599 Phenotypes for gene: NPR3 were set to Boudin-Mortier syndrome, OMIM:619543