Vitamin metabolism disorders
Gene: CUBN
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 has been classified as Green List (High Evidence).
Gene: cubn has been classified as Green List (High Evidence).
gene: CUBN was added gene: CUBN was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CUBN were set to 10080186; 31613795 Phenotypes for gene: CUBN were set to 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) Review for gene: CUBN was set to GREEN