Proteinuria

Gene: CUBN

Green List (high evidence)

CUBN (cubilin)
EnsemblGeneIds (GRCh38): ENSG00000107611
EnsemblGeneIds (GRCh37): ENSG00000107611
OMIM: 602997, Gene2Phenotype
CUBN is in 8 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Variants in the C-term (after vitamin B12-binding domain which encompases CUB5-8 regions) are assoicated with isolated proteinuria.

Note: Even homozygous PTCs after the B12-binding domain (but still within the NMD-predicted region) are only associated with proteinuria (PMID: 21903995, PMID: 31438875).
Created: 4 May 2022, 11:47 a.m. | Last Modified: 4 May 2022, 11:47 a.m.
Panel Version: 0.13755

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Imerslund-Grasbeck syndrome 1 MIM#261100 AR; [Proteinuria, chronic benign] MIM#618884

Publications

Variants in this GENE are reported as part of current diagnostic practice

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease associations (see OMIM entry). CUBN deficiency causes an inborn error of cobalamin metabolism.
Sources: NHS GMS
Created: 3 Feb 2021, 12:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Proteinuria, chronic benign MIM#618884; Imerslund-Grasbeck syndrome 1 MIM#261100; Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
treatable
OMIM
602997
Clinvar variants
Variants in CUBN
Penetrance
None
Panels with this gene

History Filter Activity

10 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: CUBN.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CUBN was added gene: CUBN was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CUBN was set to Unknown