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Mendeliome

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)

Comment on list classification: Benign clinical condition
Created: 9 Feb 2021, 2:28 a.m. | Last Modified: 9 Feb 2021, 2:28 a.m.
Panel Version: 0.6299
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.
Created: 9 Feb 2021, 2:28 a.m. | Last Modified: 9 Feb 2021, 2:28 a.m.
Panel Version: 0.6298

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
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

21 Apr 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CD320 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

9 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).

9 Feb 2021, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: CD320 were changed from to Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646; Disorders of cobalamin absorption, transport and metabolism

9 Feb 2021, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: CD320 were set to

9 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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CD320 was added gene: CD320 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CD320 was set to Unknown