Groopman et al 2019 - Genes with diagnostic variants

Gene: NPHS2

Green List (high evidence)

NPHS2 (NPHS2, podocin)
EnsemblGeneIds (GRCh38): ENSG00000116218
EnsemblGeneIds (GRCh37): ENSG00000116218
OMIM: 604766, Gene2Phenotype
NPHS2 is in 9 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: NPHS2; Inheritance: AR; Clinical diagnosis: Nephropathy of unknown origin; Glomerulopathy; Hypertensive nephropathy; Genetic diagnosis: Nephrotic syndrome type 2; OMIM phenotype MIM no.: 600995; Number of cases: 6 ((2 homozygous, 4 compound heterozygous)
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Expert review green
  • Literature
  • Nephropathy of unknown origin
  • Hypertensive nephropathy
  • Glomerulopathy
  • Nephrotic syndrome type 2
  • MIM 600995
Clinvar variants
Variants in NPHS2
Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to NPHS2. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: NPHS2 was added gene: NPHS2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHS2 were set to Nephropathy of unknown origin; Hypertensive nephropathy; Glomerulopathy; Nephrotic syndrome type 2; MIM 600995