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Prepair 1000+

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

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene disease association. Hereditary nephrotic syndrome is a heterogeneous disease, characterized by heavy proteinuria and rapid progression to renal failure. Onset in childhood and progression to end stage renal failure by first or second decade of life. Some patients can have later onset (see PMID: 12464671 at average of 26 years of age).

Incomplete penetrance has been reported (PMID: 24509478) - parents of affected children found to be compound heterozygous with R229Q and another variant, when this second variant occurs in exon 1 to 6.
Created: 11 Sep 2024, 4:52 a.m. | Last Modified: 11 Sep 2024, 4:52 a.m.
Panel Version: 1.287

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 2 MIM#600995

Publications

Created: 11 Sep 2024, 4:52 a.m.
Last Modified: 11 Sep 2024, 4:52 a.m.
Panel version: 1.287

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephrotic syndrome, type 2, 600995 (3)
OMIM
604766
Clinvar variants
Variants in NPHS2
Penetrance
None
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Nephrotic syndrome, type 2, 600995 (3) for gene: NPHS2

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NPHS2 was added gene: NPHS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHS2 were set to Nephrotic syndrome, type 2, 600995 (3)