| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.836 | ACADM |
Zornitza Stark Tag acadm was removed from gene: ACADM. Tag treatable tag was added to gene: ACADM. |
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| Mitochondrial disease v0.836 | ACADM | Zornitza Stark Tag acadm tag was added to gene: ACADM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.255 | ACADM | Bryony Thompson Marked gene: ACADM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.255 | ACADM | Bryony Thompson Gene: acadm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.255 | ACADM | Bryony Thompson Classified gene: ACADM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.255 | ACADM | Bryony Thompson Gene: acadm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.254 | ACADM |
Bryony Thompson gene: ACADM was added gene: ACADM was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADM were set to 25778941; 1972503; 26223887 Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450 Review for gene: ACADM was set to GREEN Added comment: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a disorder of mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. Sources: NHS GMS, Literature |
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