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  3. CD320
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Miscellaneous Metabolic Disorders

Gene: CD320

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Benign clinical condition
Created: 8 Feb 2021, 10:13 p.m. | Last Modified: 8 Feb 2021, 10:13 p.m.
Panel Version: 0.333
At least 9 cases reported with biallelic variants, all but 1 case are homozygous for p.Glu88del. The AF of this variant is ~1% in gnomAD v2.1.1, with 12 homozygotes. However, this is not unexpected given the apparent asymptomatic nature of the metabolic condition. Null mouse model has vitamin B12 deficiency.
Sources: Literature
Created: 8 Feb 2021, 10:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646; Disorders of cobalamin absorption, transport and metabolism

Publications

Created: 8 Feb 2021, 10:12 p.m.

Panel version: 0.332

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646
  • Disorders of cobalamin absorption, transport and metabolism
OMIM
606475
Clinvar variants
Variants in CD320
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cd320 has been classified as Amber List (Moderate Evidence).

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cd320 has been classified as Amber List (Moderate Evidence).

8 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CD320 was added gene: CD320 was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: CD320 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD320 were set to 29663633; 27604308; 30303736 Phenotypes for gene: CD320 were set to Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646; Disorders of cobalamin absorption, transport and metabolism Review for gene: CD320 was set to GREEN