Proteinuria
Gene: XPO5
XPO5 (exportin 5)
EnsemblGeneIds (GRCh38): ENSG00000124571
EnsemblGeneIds (GRCh37): ENSG00000124571
OMIM: 607845, Gene2Phenotype
XPO5 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000124571
EnsemblGeneIds (GRCh37): ENSG00000124571
OMIM: 607845, Gene2Phenotype
XPO5 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Singe family reported.
Sources: Expert listCreated: 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