Proteinuria
Gene: NPHS2

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 17 Nov 2020, 1:13 a.m. | Last Modified: 17 Nov 2020, 1:13 a.m.

Panel Version: 0.145

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 2 (MIM#600995), AR

Publications

Created: 17 Nov 2020, 1:13 a.m.
Last Modified: 17 Nov 2020, 1:13 a.m.
Panel version: 0.145

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

Well reported disease gene for nephrotic syndrome.
Created: 16 Nov 2020, 10:21 p.m. | Last Modified: 16 Nov 2020, 10:21 p.m.

Panel Version: 0.5381

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 2 (MIM#600995), AR

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Nov 2020, 10:21 p.m.
Last Modified: 16 Nov 2020, 10:21 p.m.
Panel version: Imported from Mendeliome panel version 0.5381

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Nephrotic syndrome, type 2 (MIM#600995), AR

OMIM

604766

Clinvar variants

Variants in NPHS2

Penetrance

None

Publications

Panels with this gene