Activity
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9 actions
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| Likely inborn error of metabolism v8.68 | CD320 | Achchuthan Shanmugasundram Classified gene: CD320 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.68 | CD320 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there is sufficient evidence available (at least eight unrelated families) for the association of biallelic CD320 variants with 'Methylmalonic aciduria, transient, due to transcobalamin receptor defect', the reported individuals had no major health or developmental concerns. As it is a benign condition, this gene is rated amber for now. |
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| Likely inborn error of metabolism v8.68 | CD320 | Achchuthan Shanmugasundram Gene: cd320 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.67 | CD320 | Achchuthan Shanmugasundram Phenotypes for gene: CD320 were changed from Methylmalonic aciduria due to transcobalamin receptor defect to Methylmalonic aciduria, transient, due to transcobalamin receptor defect, OMIM:613646; methylmalonic acidemia due to transcobalamin receptor defect, MONDO:0013341 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.66 | CD320 | Achchuthan Shanmugasundram Publications for gene: CD320 were set to 27604308; 20524213 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.65 | CD320 | Achchuthan Shanmugasundram Mode of inheritance for gene: CD320 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.64 | CD320 | Achchuthan Shanmugasundram reviewed gene: CD320: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, transient, due to transcobalamin receptor defect, OMIM:613646, methylmalonic acidemia due to transcobalamin receptor defect, MONDO:0013341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | CD320 |
Ivone Leong Source NHS GMS was added to CD320. Source London North GLH was added to CD320. |
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| Likely inborn error of metabolism v0.4 | CD320 |
Ellen McDonagh gene: CD320 was added gene: CD320 was added to Inborn errors of metabolism. 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 |
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