Proteinuric renal disease
Gene: CUBN
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: CUBN; Suggested initial gene rating: green; Evidence for inclusion: PMID: 22574174; PMID: 21903995; Other comments: >3 unrelated patients reported in the literature with rare CUBN variants. Only VUS detected in <5 patients in cohort of >600 SRNS patientsCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megaloblastic anemia-1, Finnish type #261100
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Causes proteinuria as part of Imerslund-Grasbeck syndrome.Created: 15 Apr 2016, 10:29 a.m.
1 publication, 2 siblings, to be on extended UKGTN panel currently under developmentCreated: 19 Oct 2015, 1:12 p.m.
Publications
Publications for gene: CUBN were set to 21903995
Source NHS GMS was added to CUBN. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for CUBN were set to 21903995
This gene has been classified as Green List (High Evidence).
Publications for CUBN were set to J Am Soc Nephrol. 2011 Oct; 22(10):1815-20
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene CUBN was set to BIALLELIC, autosomal or pseudoautosomal
CUBN was added to Proteinuric renal diseasepanel. Source: Expert
Model of inheritance for gene CUBN was set to BIALLELIC, autosomal or pseudoautosomal
CUBN was added to Proteinuric renal diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services
CUBN was added to Proteinuric renal diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert