| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.836 | SLC25A20 | Zornitza Stark Tag treatable tag was added to gene: SLC25A20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.243 | SLC25A20 | Bryony Thompson Marked gene: SLC25A20 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.243 | SLC25A20 | Bryony Thompson Gene: slc25a20 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.243 | SLC25A20 | Bryony Thompson Classified gene: SLC25A20 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.243 | SLC25A20 | Bryony Thompson Gene: slc25a20 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.242 | SLC25A20 |
Bryony Thompson gene: SLC25A20 was added gene: SLC25A20 was added to Mitochondrial disease. Sources: Literature,NHS GMS Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A20 were set to 9399886; 31108048; 25778941 Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency MIM#212138 Review for gene: SLC25A20 was set to GREEN Added comment: >3 cases. Condition is a recessive disorder of mitochondrial fatty acid oxidation. Sources: Literature, NHS GMS |
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