Proteinuric renal diseaseGene: NUP133
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
Nephrotic syndrome, type 18 #618177
Gene: nup133 has been classified as Green List (High Evidence).
Phenotypes for gene: NUP133 were changed from to ?Galloway-Mowat syndrome 8 618349; Nephrotic syndrome, type 18 618177
Publications for gene: NUP133 were set to
Mode of inheritance for gene: NUP133 was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: NUP133 was added gene: NUP133 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: NUP133 was set to