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| Proteinuric renal disease v1.214 | WDR73 | Eleanor Williams Mode of inheritance for gene: WDR73 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.213 | WDR73 | Eleanor Williams Classified gene: WDR73 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.213 | WDR73 | Eleanor Williams Added comment: Comment on list classification: Sufficient cases and GMS renal specialist test group decided Galloway-Mowat syndrome is appropriate for this panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.213 | WDR73 | Eleanor Williams Gene: wdr73 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.127 | WDR73 | Eleanor Williams Phenotypes for gene: WDR73 were changed from to Galloway-Mowat syndrome 1 #251300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.126 | WDR73 | Eleanor Williams Publications for gene: WDR73 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.27 | WDR73 |
Eleanor Williams edited their review of gene: WDR73: Added comment: 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.; Changed publications: PMID: 26123727, PMID: 25466283 |
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| Proteinuric renal disease v1.16 | WDR73 | Eleanor Williams reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 26123727, PMID: 25466283 ; Phenotypes: Galloway-Mowat syndrome 1 #251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | WDR73 |
Eleanor Williams gene: WDR73 was added gene: WDR73 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: WDR73 was set to |
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