Proteinuria
Gene: CUBN
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
Well-established gene-disease associations (see OMIM entry). CUBN deficiency causes an inborn error of cobalamin metabolism.
Sources: NHS GMSCreated: 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
Tag treatable tag was added to gene: CUBN.
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