| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.333 | CD320 | Bryony Thompson Marked gene: CD320 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.333 | CD320 | Bryony Thompson Gene: cd320 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.333 | CD320 | Bryony Thompson Classified gene: CD320 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.333 | CD320 | Bryony Thompson Added comment: Comment on list classification: Benign clinical condition | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.333 | CD320 | Bryony Thompson Gene: cd320 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.332 | CD320 |
Bryony Thompson 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 Added comment: 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 |
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