Proteinuric renal disease
Gene: NUP107
Comment on list classification: 3 families with variants in this gene.Created: 26 Mar 2019, 4:43 p.m.
Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that although it is clearly rare with no variants found in >600 cases in Bristol, it is appropriate for inclusion in the panel.Created: 26 Mar 2019, 4:35 p.m.
Associated with Galloway-Mowat syndrome 7 (618348) and Nephrotic syndrome, type 11 (616730) in OMIM.
PMID: 26411495 - Miyake et al 2015 - biallelic NUP107 mutations in nine affected individuals who are from five unrelated families and show early-onset steroid-resistant nephrotic syndrome (SRNS). All individuals were compound heterozgyous, and all had a c.2492A>C (p.Asp831Ala) variant in common. This variant, c.2492A>C, was observed at a frequency of 0.0013587 only in HGVD, but not in the EVS, ExAC Browser, or in-house Japanese exome database. Three other variants were found in addition - c.469G>T (p.Asp157Tyr),c.969+1G>A (splice site) and c.1079_1083delAAGAG (p.Glu360Glyfs∗6).
PMID: 30179222 - Braun et al 2018 - homozgyous or compound heterozygous variants found in 7 families with SRNS.. The same homozygous missense mutation (c.303G>A, p.Met101Ile) in NUP107 was detected 5 consanguineous families with SRNS and represents a South Asian founder allele. They also detected a homozygous missense mutation of NUP107 (c.2666A>G, p.Tyr889Cys) in family A3825 and 2 compound heterozygous alleles (c.1021dup, p.Glu341Glyfs*3, and c.2129_2131delAAG, p.Glu710del) of NUP107 in family A1830.Created: 26 Mar 2019, 4:34 p.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: NUP107; Suggested initial gene rating: green; Evidence for inclusion: PMID: 26411495; PMID 30179222 ; Other comments: Multiple unrelated families with rare AR NUP107 variants and SRNS. No positive cases in >600 referrals for SRNS.Created: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 11 #616730
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: NUP107 were changed from to Nephrotic syndrome, type 11 #616730
Publications for gene: NUP107 were set to
Mode of inheritance for gene: NUP107 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: nup107 has been classified as Green List (High Evidence).
gene: NUP107 was added gene: NUP107 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: NUP107 was set to