Proteinuric renal disease

Gene: XPO5

Red List (low evidence)

XPO5 (exportin 5)
EnsemblGeneIds (GRCh38): ENSG00000124571
EnsemblGeneIds (GRCh37): ENSG00000124571
OMIM: 607845, Gene2Phenotype
XPO5 is in 2 panels

1 review

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: XPO5; Suggested initial gene rating: red; Evidence for inclusion: PMID: 26878725; Other comments: One patient with nephrotic syndrome and homozygous rare variant (VUS)
Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Sources
  • NHS GMS
Phenotypes
  • Nephrotic syndrome
OMIM
607845
Clinvar variants
Variants in XPO5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jun 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: XPO5 were changed from to Nephrotic syndrome

24 Jun 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: XPO5 were set to

4 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: XPO5 was added gene: XPO5 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: XPO5 was set to