Undiagnosed metabolic disorders
Gene: CD320
Variant rs2336573 associated with serum B12 levelsCreated: 23 Feb 2017, 5:12 p.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. One homozygous variant reported in two casesCreated: 14 Feb 2017, 10:49 a.m.
INTERVENTION/RATIONALE: Treatment with IM vitamin B12 has shown to positively affect laboratory parameters, but long-term clinical sequelae are unclearCreated: 14 Feb 2017, 10:48 a.m.
Mode of inheritance
Unknown
Phenotypes
Methylmalonic aciduria, transient, due to transcobalamin receptor defect 613646
Publications
Source: Expert Review Amber was removed from gene: CD320
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
CD320 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber
This gene has been classified as Red List (Low Evidence).
Phenotypes for CD320 were set to Methylmalonic aciduria due to transcobalamin receptor defect 613646
Publications for CD320 were set to 27604308; 20524213
This gene has been classified as Red List (Low Evidence).
CD320 was added to Undiagnosed metabolic disorderspanel. Sources: UKGTN
CD320 was added to Undiagnosed metabolic disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Model of inheritance for gene CD320 was set to Unknown
CD320 was created by sleigh
CD320 was added to Undiagnosed metabolic disorderspanel. Sources: Literature