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  3. CD320
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Molecular autopsy

Gene: CD320

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

0 reviews

Details

Mode of Inheritance
Unknown
Sources
  • 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

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Methylmalonic aciduria due to transcobalamin receptor defect for gene: CD320

20 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 Molecular autopsy. 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