Proteinuria

Gene: CUBN

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

• 31613795
• 21903995
• 31497480

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

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

• 10080186
• 31613795

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