1. Panels
  2. Fetal anomalies
  3. NPNT
Genes in panel
Prev Next

Fetal anomalies

Gene: NPNT

Amber List (moderate evidence)
NPNT (nephronectin)
EnsemblGeneIds (GRCh38): ENSG00000168743
EnsemblGeneIds (GRCh37): ENSG00000168743
OMIM: 610306, Gene2Phenotype
NPNT is in 1 panel

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)

I don't know

NOT OMIM or gene2phenotype. 35246978- describes 2 families with renal agenesis and a single founder homozygous variant. PMID34049960- A consanguineous Han family with 3 cases of bilateral renal agenesis- homozygous frameshift variant on NPNT detected. PMID: 33002343- This paper identified Nephronectin as an important gene in regulating kidney development. Not on any other PanelApp panels. Needs more evidence to be added to Fatal Anomalies panel.
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
Renal agenesis, MONDO:0018470, NPNT-related

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 Amber
  • NHS GMS
Phenotypes
  • Renal agenesis, MONDO:0018470, NPNT-related
OMIM
610306
Clinvar variants
Variants in NPNT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: NPNT was added gene: NPNT was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: NPNT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPNT were set to 34049960; 35246978; 17537792 Phenotypes for gene: NPNT were set to Renal agenesis, MONDO:0018470, NPNT-related