Proteinuria

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Singe family reported.
Sources: Expert list
Created: 20 Dec 2019, 3:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Nephrotic syndrome
OMIM
607845
Clinvar variants
Variants in XPO5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: xpo5 has been classified as Red List (Low Evidence).

20 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: xpo5 has been classified as Amber List (Moderate Evidence).

20 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: xpo5 has been classified as Amber List (Moderate Evidence).

20 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: XPO5 was added gene: XPO5 was added to Proteinuria_VCGS_KidGen. Sources: Expert list Mode of inheritance for gene: XPO5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPO5 were set to 26878725 Phenotypes for gene: XPO5 were set to Nephrotic syndrome Review for gene: XPO5 was set to AMBER