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  2. Renal and urinary tract disorders
  3. NPHS1
STRs in panel
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Renal and urinary tract disorders

Gene: NPHS1

Green List (high evidence)
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: Imported from End-stage renal disease - childhood onset panel version 0.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 1 256300
OMIM
602716
Clinvar variants
Variants in NPHS1
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment on list classification

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: NPHS1 was added gene: NPHS1 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHS1 were set to Nephrotic syndrome, type 1