Proteinuric renal disease
Gene: XPO5
XPO5 (exportin 5)
EnsemblGeneIds (GRCh38): ENSG00000124571
EnsemblGeneIds (GRCh37): ENSG00000124571
OMIM: 607845, Gene2Phenotype
XPO5 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000124571
EnsemblGeneIds (GRCh37): ENSG00000124571
OMIM: 607845, Gene2Phenotype
XPO5 is in 1 panel
1 review
Eleanor Williams (Genomics England Curator)
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
- PMID: 26878725
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