Groopman et al 2019 - Genes with diagnostic variants

Gene: NPHS1

Amber List (moderate evidence)

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

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