Unexplained kidney failure in young people
Gene: NUP107

NUP107 (nucleoporin 107)
EnsemblGeneIds (GRCh38): ENSG00000111581
EnsemblGeneIds (GRCh37): ENSG00000111581
OMIM: 607617, Gene2Phenotype
NUP107 is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reported
Created: 5 Aug 2016, 8:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 11 616730

Publications

26411495

Created: 5 Aug 2016, 8:29 a.m.

Panel version: 0.235

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Nephrotic syndrome, type 11 616730

OMIM

607617

Clinvar variants

Variants in NUP107

Penetrance

Complete

Publications

26411495

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: NUP107 were changed from Nephrotic syndrome, type 11 616730 to Nephrotic syndrome, type 11 616730

17 Aug 2016, Gel status: 4