| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.836 | ACAT1 | Zornitza Stark Tag treatable tag was added to gene: ACAT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.608 | ACAT1 | Zornitza Stark Marked gene: ACAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.608 | ACAT1 | Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.247 | ACAT1 | Bryony Thompson Classified gene: ACAT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.247 | ACAT1 | Bryony Thompson Gene: acat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.246 | ACAT1 |
Bryony Thompson gene: ACAT1 was added gene: ACAT1 was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAT1 were set to 31268215; 25778941; 1715688 Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria MIM#203750 Review for gene: ACAT1 was set to GREEN Added comment: Mitochondrial acetoacetyl-CoA thiolase deficiency is an inherited disorder of ketone body and isoleucine metabolism. A defect in the substrate-generating upstream reactions of OXPHOS. Over 100 cases reported. Sources: NHS GMS, Literature |
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