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Proteinuria

Gene: NUP160

Green List (high evidence)
NUP160 (nucleoporin 160)
EnsemblGeneIds (GRCh38): ENSG00000030066
EnsemblGeneIds (GRCh37): ENSG00000030066
OMIM: 607614, Gene2Phenotype
NUP160 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 30910934 1 x patient with familial steroid-resistant nephrotic syndrome (SRNS) and FSGS carried novel compound-heterozygous variants in NUP160 (R1173X and E803K).

Silencing of Drosophila NUP160 specifically in nephrocytes (fly renal cells) led to functional abnormalities, reduced cell size and nuclear volume, and disorganized nuclear membrane structure. These defects were completely rescued by the expression of the wild-type human NUP160 gene in nephrocytes.

PMID: 30179222 1 x family (2 sibs) with compound het variants E803K and Arg910X. 1 Sib had SRNS and FSGS, the other had proteinuria.

PMID: 33456446 1 x family (2 sibs) with SRNS and chronic kidney disease. Homozygous for NUP160 c.1179+5G>A, confirmed by RT-PCR to cause abnormal splicing [r.1102_1179del;p.(Phe368_Gln393del)]. These individuals also had additional neurological features of intellectual disability and epilepsy.

PMID: 38224683 Generated a podocyte-specific Nup160 knockout (Nup160podKO) mouse model using CRISPR/Cas9 and Cre/loxP technologies. They showed that Nup160podKO mice develop typical signs of NS.
Created: 1 Feb 2024, 1:23 a.m. | Last Modified: 1 Feb 2024, 1:23 a.m.
Panel Version: 0.221
Single family, no functional data.
Sources: Literature
Created: 20 Dec 2019, 4:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 19, MIM#618178

Publications

Created: 20 Dec 2019, 4:35 a.m.

Panel version: 0.221

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephrotic syndrome, type 19, MIM#618178
OMIM
607614
Clinvar variants
Variants in NUP160
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nup160 has been classified as Green List (High Evidence).

20 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nup160 has been classified as Red List (Low 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: NUP160 was added gene: NUP160 was added to Proteinuria_VCGS_KidGen. Sources: Literature Mode of inheritance for gene: NUP160 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP160 were set to 30179222 Phenotypes for gene: NUP160 were set to Nephrotic syndrome, type 19, MIM#618178 Review for gene: NUP160 was set to RED