Proteinuric renal disease
Gene: NUP160
NUP160 (nucleoporin 160)
EnsemblGeneIds (GRCh38): ENSG00000030066
EnsemblGeneIds (GRCh37): ENSG00000030066
OMIM: 607614, Gene2Phenotype
NUP160 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000030066
EnsemblGeneIds (GRCh37): ENSG00000030066
OMIM: 607614, Gene2Phenotype
NUP160 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: NUP160; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 30179222 ; Other comments: Amber: Two unrelated families with NS and rare AR NUP160 variantsCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Nephrotic syndrome, type 19 #618178
Publications
- PMID: 30179222
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- ?Nephrotic syndrome, type 19 #618178
- OMIM
- 607614
- Clinvar variants
- Variants in NUP160
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
23 Jun 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: NUP160 were changed from to ?Nephrotic syndrome, type 19 #618178
23 Jun 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: NUP160 were set to
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: NUP160 was added gene: NUP160 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: NUP160 was set to