| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.836 | CPT1A | Zornitza Stark Tag treatable tag was added to gene: CPT1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.266 | CPT1A | Bryony Thompson Marked gene: CPT1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.266 | CPT1A | Bryony Thompson Gene: cpt1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.266 | CPT1A | Bryony Thompson Classified gene: CPT1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.266 | CPT1A | Bryony Thompson Gene: cpt1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.265 | CPT1A |
Bryony Thompson gene: CPT1A was added gene: CPT1A was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPT1A were set to 25778941; 12189492; 23430932 Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA MIM#255120 Review for gene: CPT1A was set to GREEN Added comment: Hepatic carnitine palmitoyltransferase (CPT) deficiency type 1A is a disorder of mitochondrial fatty acid oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. Sources: NHS GMS, Literature |
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