Unexplained kidney failure in young people
Gene: NPHS1

NPHS1 (NPHS1, nephrin)
EnsemblGeneIds (GRCh38): ENSG00000161270
EnsemblGeneIds (GRCh37): ENSG00000161270
OMIM: 602716, Gene2Phenotype
NPHS1 is in 5 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 5 Aug 2016, 8:17 a.m.

Comment on list classification: Promoted from Red to Green because this gene is Green in Version 1 of the Proteinuric renal disease gene panel
Created: 17 Jun 2016, 9:22 a.m.

Created: 17 Jun 2016, 9:22 a.m.

Panel version: 0.26

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
UKGTN
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Eligibility statement prior genetic testing

Phenotypes

Nephrotic syndrome, type 1 256300

OMIM

602716

Clinvar variants

Variants in NPHS1

Penetrance

Complete

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: NPHS1 were changed from Nephrotic syndrome, type 1 256300 to Nephrotic syndrome, type 1 256300

17 Aug 2016, Gel status: 4