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Gene: NPHS1

Green List (high evidence)

NPHS1 (NPHS1, nephrin)
EnsemblGeneIds (GRCh38): ENSG00000161270
EnsemblGeneIds (GRCh37): ENSG00000161270
OMIM: 602716, Gene2Phenotype
NPHS1 is in 8 panels

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Gene-disease association: strong. Nephrotic syndrome type 1 (NPHS1) is characterized by prenatal onset of massive proteinuria followed by severe steroid-resistant nephrotic syndrome apparent at birth with rapid progression to end-stage renal failure.

The frequency of the disorder is significantly higher in Finland with two NPHS1 founder mutations

HGNC approved symbol/name: NPHS1
Is the phenotype(s) severe and onset <18yo? Y
Created: 20 Jan 2025, 3:38 a.m. | Last Modified: 20 Jan 2025, 3:38 a.m.
Panel Version: 1.1235

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 1, MIM# 256300; congenital nephrotic syndrome, Finnish type MONDO:0009732

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephrotic syndrome, type 1, MIM# 256300
OMIM
602716
Clinvar variants
Variants in NPHS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nphs1 has been classified as Green List (High Evidence).

20 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NPHS1 were changed from Nephrotic syndrome, type 1, 256300 (3) to Nephrotic syndrome, type 1, MIM# 256300

20 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NPHS1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Nephrotic syndrome, type 1, 256300 (3) for gene: NPHS1

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: NPHS1 was added gene: NPHS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHS1 were set to Nephrotic syndrome, type 1, 256300 (3)