| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Vitamin metabolism disorders v1.6 | MCEE | Zornitza Stark Marked gene: MCEE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitamin metabolism disorders v1.6 | MCEE | Zornitza Stark Gene: mcee has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitamin metabolism disorders v1.6 | MCEE |
Bryony Thompson changed review comment from: Involved in the metabolism of cobalamin (vitamin B12). Serum B12 levels are measures as part of the diagnosis of this condition. Sources: Expert list; to: It is not directly involved in cobalamin (vitamin B12) metabolism, but serum B12 levels are measured in diagnosing this condition. Included as a differential diagnosis. Sources: Expert list |
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| Vitamin metabolism disorders v1.6 | MCEE | Bryony Thompson Classified gene: MCEE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitamin metabolism disorders v1.6 | MCEE | Bryony Thompson Gene: mcee has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitamin metabolism disorders v1.5 | MCEE |
Bryony Thompson gene: MCEE was added gene: MCEE was added to Vitamin metabolism disorders. Sources: Expert list Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCEE were set to 20301409 Phenotypes for gene: MCEE were set to methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615 Review for gene: MCEE was set to GREEN gene: MCEE was marked as current diagnostic Added comment: Involved in the metabolism of cobalamin (vitamin B12). Serum B12 levels are measures as part of the diagnosis of this condition. Sources: Expert list |
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