Proteinuric renal disease
Gene: NXF5
NXF5 (nuclear RNA export factor 5)
EnsemblGeneIds (GRCh38): ENSG00000126952
EnsemblGeneIds (GRCh37): ENSG00000126952
OMIM: 300319, Gene2Phenotype
NXF5 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000126952
EnsemblGeneIds (GRCh37): ENSG00000126952
OMIM: 300319, Gene2Phenotype
NXF5 is in 2 panels
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: NXF5; Suggested initial gene rating: red; Evidence for inclusion: PMID: 23686279; Other comments: Reported as VUS in one family with FSGS and heart-block in 2013. Reported variant has MAF of 0.04% and seen in >30 healthy hemizygotes in gnomADCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
FSGS and heart-block disorder
Publications
- PMID: 23686279
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- FSGS
- heart-block disorder
- OMIM
- 300319
- Clinvar variants
- Variants in NXF5
- 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: NXF5 were changed from to FSGS; heart-block disorder
24 Jun 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: NXF5 were set to
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: NXF5 was added gene: NXF5 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: NXF5 was set to