Proteinuric renal disease
Gene: CUBNEnsemblGeneIds (GRCh38): ENSG00000107611
EnsemblGeneIds (GRCh37): ENSG00000107611
OMIM: 602997, Gene2Phenotype
CUBN is in 8 panels
3 reviews
Eleanor Williams (Genomics England Curator)
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
Ellen Thomas (Genomics England Curator)
Comment on list classification: Causes proteinuria as part of Imerslund-Grasbeck syndrome.Created: 15 Apr 2016, 10:29 a.m.
Maggie Williams (North Bristol NHS Trust)
1 publication, 2 siblings, to be on extended UKGTN panel currently under developmentCreated: 19 Oct 2015, 1:12 p.m.
Publications
- J Am Soc Nephrol. 2011 Oct
- 22(10):1815-20
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Megaloblastic anemia-1, Finnish type, 261100
- Megaloblastic Anemia
- (originally on the Imerslund-Grasbeck syndrome gene panel)
- OMIM
- 602997
- Clinvar variants
- Variants in CUBN
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: CUBN were set to 21903995
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to CUBN. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set publications
Sarah Leigh (Genomics England Curator)Publications for CUBN were set to 21903995
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen Thomas (Genomics England Curator)Publications for CUBN were set to J Am Soc Nephrol. 2011 Oct; 22(10):1815-20
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CUBN was added to Proteinuric renal diseasepanel. Source: Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CUBN was added to Proteinuric renal diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)CUBN was added to Proteinuric renal diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert