Miscellaneous Metabolic Disorders
Gene: CD320
Comment on list classification: Benign clinical conditionCreated: 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: LiteratureCreated: 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
Gene: cd320 has been classified as Amber List (Moderate Evidence).
Gene: cd320 has been classified as Amber List (Moderate Evidence).
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