Genes in panel
STRs in panel
Prev Next

Undiagnosed metabolic disorders

Gene: CD320

Red List (low evidence)

CD320 (CD320 molecule)
EnsemblGeneIds (GRCh38): ENSG00000167775
EnsemblGeneIds (GRCh37): ENSG00000167775
OMIM: 606475, Gene2Phenotype
CD320 is in 3 panels

1 review

Sarah Leigh (Genomics England Curator)

gene: CD320 review by Sarah Leigh

Variant rs2336573 associated with serum B12 levels
Created: 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 cases
Created: 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 unclear
Created: 14 Feb 2017, 10:48 a.m.

Mode of inheritance
Unknown

Phenotypes
Methylmalonic aciduria, transient, due to transcobalamin receptor defect 613646

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Amber
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Methylmalonic aciduria due to transcobalamin receptor defect 613646
  • Methylmalonic aciduria, transient, due to transcobalamin receptor defect 613646
Tags
treatable
OMIM
606475
Clinvar variants
Variants in CD320
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Feb 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

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

24 Feb 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CD320 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber

16 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

16 Jan 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CD320 were set to Methylmalonic aciduria due to transcobalamin receptor defect 613646

16 Jan 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CD320 were set to 27604308; 20524213

16 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

16 Jan 2017, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

CD320 was added to Undiagnosed metabolic disorderspanel. Sources: UKGTN

16 Jan 2017, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

CD320 was added to Undiagnosed metabolic disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

16 Jan 2017, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene CD320 was set to Unknown

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CD320 was created by sleigh

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

CD320 was added to Undiagnosed metabolic disorderspanel. Sources: Literature