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  2. Unexplained kidney failure in young people
  3. NPHS2
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Unexplained kidney failure in young people

Gene: NPHS2

Green List (high evidence)
NPHS2 (NPHS2, podocin)
EnsemblGeneIds (GRCh38): ENSG00000116218
EnsemblGeneIds (GRCh37): ENSG00000116218
OMIM: 604766, Gene2Phenotype
NPHS2 is in 6 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, 8:20 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, 9:23 a.m.
Created: 17 Jun 2016, 9:23 a.m.

Panel version: 0.27

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 2 600995
OMIM
604766
Clinvar variants
Variants in NPHS2
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: NPHS2 were changed from Nephrotic syndrome, type 2 600995 to Nephrotic syndrome, type 2 600995

17 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 17th August 2016

5 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

NPHS2 was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

22 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NPHS2 were set to Nephrotic syndrome, type 2 600995

22 Jun 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for NPHS2 was changed to BIALLELIC, autosomal or pseudoautosomal

17 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NPHS2 was added to Unexplained kidney failure in young peoplepanel. Source: UKGTN NPHS2 was added to Unexplained kidney failure in young peoplepanel. Source: Expert Review Red

16 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

NPHS2 was created by sleigh

16 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

NPHS2 was added to Unexplained kidney failure in young peoplepanel. Sources: Eligibility statement prior genetic testing