Undiagnosed metabolic disorders
Gene: CUBNComment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 4 variants reported in 4 cases together with functional studiesCreated: 12 Jan 2017, 1:26 p.m.
Comment on publications: Functional studies reported in PMID 10887099Created: 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
Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for CUBN were set to 10887099; 27604308
Publications for CUBN were set to 10887099;27604308
Phenotypes for CUBN were set to Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism); Proteinuric renal disease; Unexplained kidney failure in young people; Megaloblastic anemia-1, Finnish type 261100
CUBN was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model of inheritance for gene CUBN was set to BIALLELIC, autosomal or pseudoautosomal
CUBN was added to Undiagnosed metabolic disorderspanel. Sources: Literature
CUBN was created by sleigh