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Inborn errors of metabolism

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
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Methylmalonic aciduria due to transcobalamin receptor defect
OMIM
606475
Clinvar variants
Variants in CD320
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CD320. Source London North GLH was added to CD320.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CD320 was added gene: CD320 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CD320 was set to Unknown Publications for gene: CD320 were set to 27604308; 20524213 Phenotypes for gene: CD320 were set to Methylmalonic aciduria due to transcobalamin receptor defect