Groopman et al 2019 - Genes with diagnostic variants
Gene: NPHS2

NPHS2 (NPHS2, podocin)
EnsemblGeneIds (GRCh38): ENSG00000116218
EnsemblGeneIds (GRCh37): ENSG00000116218
OMIM: 604766, Gene2Phenotype
NPHS2 is in 6 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

Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert review green
Literature

Phenotypes

Nephropathy of unknown origin
Hypertensive nephropathy
Glomerulopathy
Nephrotic syndrome type 2
MIM 600995

OMIM

604766

Clinvar variants

Variants in NPHS2

Penetrance

None

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

Groopman et al 2019 - Genes with diagnostic variants Gene: NPHS2