Proteinuric renal disease

Gene: WDR73

Green List (high evidence)

Comment on list classification: Sufficient cases and GMS renal specialist test group decided Galloway-Mowat syndrome is appropriate for this panel

Created: 30 Jun 2019, 4:29 p.m. | Last Modified: 30 Jun 2019, 4:29 p.m.

Panel Version: 1.213

WDR73 is associated with Galloway-Mowat syndrome 1 (251300) 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 WDR73 should be included on the Proteinuric renal disease panel.

PMID: 26123727 - Vodopiutz et al 2015. Report 2 patients from unrelated consanguineous families diagnosed with Galloway-Mowat syndrome. One with Indian one with Turkish ethnicity. Two variants identified, one missense, the other truncating; c.287G>A p.(Arg96Lys) and c.940C>T p.(Gln314*).

PMID: 25466283 - Colin et al 2014. Report 2 families with children with Galloway-Mowat syndrome. In family A (Moroccan) there are two affected children. One developed proteinuria, the other did not (at age 7). A homozygous A nonsense WDR73 mutation (c.129T>G [p.Tyr43∗]) was identified. In family B (consanguineous Turkish family) with one affected child who showed proteinuria as part of the phenotype, they detected another homozygous frameshift mutation in WDR73 (c.766dupC [p.Arg256Profs∗18]). Both variants segregated with the disease in the families, and neither is referenced in the NHLBI Exome Variant Server or in dbSNP.

PMID: 25873735 - Ben-Omran et al. (2015) - In 2 sisters, born of consanguineous Arab parents, with GAMOS1, identified a homozygous truncating mutation in the WDR73 gene (Q235X). One sister had proteinuria and other findings are suggestive of nephrotic disease (age 11 years), and the other sister at age 5 had findings suggestive of early features that might progress towards nephrotic disease.

PMID: 26070982 - Jinks et al. (2015) - report 27 Amish patients with GAMOS1 and identified a homozygous truncating mutation in the WDR73 gene. 57% developed steroid non-responsive, fluctuating proteinuria.

Created: 26 Mar 2019, 12:51 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: WDR73; Suggested initial gene rating: green; Evidence for inclusion: PMID: 26123727; PMID: 25466283 ; Other comments: Multiple reports of unrelated patients with SRNS and GMS

Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 1 #251300

Publications

• PMID: 26123727
• PMID: 25466283