Renal and urinary tract disorders
Gene: NUP93

NUP93 (nucleoporin 93)
EnsemblGeneIds (GRCh38): ENSG00000102900
EnsemblGeneIds (GRCh37): ENSG00000102900
OMIM: 614351, Gene2Phenotype
NUP93 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least five variants reported
Created: 5 Aug 2016, 8:33 a.m.

Comment on list classification: Promoted from Red to Green because this gene is Green in Version 1 of the Proteinuric renal disease gene panel
Created: 17 Jun 2016, 9:24 a.m.

Created: 17 Jun 2016, 9:24 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.28

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Nephrotic syndrome, type 12 616892

OMIM

614351

Clinvar variants

Variants in NUP93

Penetrance

None

Publications

26878725

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment on list classification

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: NUP93 were changed from Nephrotic syndrome, type 12 to Nephrotic syndrome, type 12 616892

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: NUP93 was added gene: NUP93 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: NUP93 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP93 were set to 26878725 Phenotypes for gene: NUP93 were set to Nephrotic syndrome, type 12

Renal and urinary tract disorders Gene: NUP93