Proteinuric renal disease

Gene: NUP133

Green List (high evidence)

NUP133 (nucleoporin 133)
EnsemblGeneIds (GRCh38): ENSG00000069248
EnsemblGeneIds (GRCh37): ENSG00000069248
OMIM: 607613, Gene2Phenotype
NUP133 is in 5 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that proteinuria is a relevant feature of Galloway-Mowat syndrome. Sufficient cases to rate green.
Created: 30 Jun 2019, 4:31 p.m. | Last Modified: 30 Jun 2019, 4:31 p.m.
Panel Version: 1.215
This gene has a provisional association with ?Galloway-Mowat syndrome 8 (618349) and an association with Nephrotic syndrome, type 18 (618177) in OMIM.

Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that proteinuria is a relevant feature of Galloway-Mowat syndrome, and NUP133 should be included on the Proteinuric renal disease panel.

PMID: 30179222 - Braun et al. (2018) - 2 families with nonsyndromic SRNS. In consanguineous family F797-21 they identified a homozygous (c.2922T>G, p.Ser974Arg) variant in 1 patient, and in a second family they identified compound heterozygous missense mutations (c.691C>G, p.Arg231Gly, and c.3164T>C, p.Leu1055Ser) in two siblings (A2174-21 and A2174-22).

PMID: 30427554 - Fujita et al (2018) - identified a homozygous NUP133 mutation, c.3335-11T>A, which results in the insertion of 9bp of intronic sequence between exons 25 and 26 in the mutant transcript in a GAMOS family. A nup133-knockdown zebrafish model exhibited microcephaly, fewer neuronal cells, underdeveloped glomeruli, and fusion of the foot processes of the podocytes, which mimicked human GAMOS features. nup133 morphants could be rescued by human wild-type NUP133 mRNA but not by mutant mRNA
Created: 26 Mar 2019, 11:15 a.m.
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: NUP133; Suggested initial gene rating: green; Evidence for inclusion: PMID: 30179222 ; Other comments: Two unrelated families with NS and rare AR NUP133 variants in PMID: 30179222. One family with Galloway-Mowat syndrome and rare homozygous splice site variant in PMID: 3017922
Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 18 #618177

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Galloway-Mowat syndrome 8 618349
  • Nephrotic syndrome, type 18 618177
OMIM
607613
Clinvar variants
Variants in NUP133
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: nup133 has been classified as Green List (High Evidence).

26 Mar 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: NUP133 were changed from to ?Galloway-Mowat syndrome 8 618349; Nephrotic syndrome, type 18 618177

26 Mar 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: NUP133 were set to

26 Mar 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: NUP133 was changed from to BIALLELIC, autosomal or pseudoautosomal

4 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: NUP133 was added gene: NUP133 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: NUP133 was set to