Groopman et al 2019 - Genes with diagnostic variants
Gene: NPHS1

NPHS1 (NPHS1, nephrin)
EnsemblGeneIds (GRCh38): ENSG00000161270
EnsemblGeneIds (GRCh37): ENSG00000161270
OMIM: 602716, Gene2Phenotype
NPHS1 is in 5 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: NPHS1; Inheritance: AR; Clinical diagnosis: Glomerulopathy; Genetic diagnosis: Nephrotic syndrome type 1; Number of cases: 2 (both 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 Amber
Exper review amber
Literature

Phenotypes

MIM 256300
Nephrotic syndrome type 1
Glomerulopathy

OMIM

602716

Clinvar variants

Variants in NPHS1

Penetrance

None

Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 2

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Amber was added to NPHS1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: NPHS1 was added gene: NPHS1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Exper review amber Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHS1 were set to MIM 256300; Nephrotic syndrome type 1; Glomerulopathy

Groopman et al 2019 - Genes with diagnostic variants Gene: NPHS1