Likely inborn error of metabolism
Gene: CUBN

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

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 4 variants reported in 4 cases together with functional studies
Created: 12 Jan 2017, 1:26 p.m.

Comment on publications: Functional studies reported in PMID 10887099
Created: 12 Jan 2017, 1:25 p.m.

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Unexplained kidney failure in young people

Created: 6 Jan 2017, 1:57 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

London North GLH
NHS GMS
Expert Review Green

Phenotypes

Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism)
Megaloblastic anemia-1, Finnish type
Proteinuric renal disease
Unexplained kidney failure in young people

OMIM

602997

Clinvar variants

Variants in CUBN

Penetrance

None

Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CUBN. Source London North GLH was added to CUBN.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CUBN was added gene: CUBN was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CUBN were set to Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism); Megaloblastic anemia-1, Finnish type; Proteinuric renal disease; Unexplained kidney failure in young people

Likely inborn error of metabolism Gene: CUBN