| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.836 | HMGCL | Zornitza Stark Tag treatable tag was added to gene: HMGCL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.249 | HMGCL | Bryony Thompson Marked gene: HMGCL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.249 | HMGCL | Bryony Thompson Gene: hmgcl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.249 | HMGCL | Bryony Thompson Classified gene: HMGCL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.249 | HMGCL | Bryony Thompson Gene: hmgcl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.248 | HMGCL |
Bryony Thompson gene: HMGCL was added gene: HMGCL was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCL were set to 25778941; 11129331; 19036343 Phenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency MIM#246450 Review for gene: HMGCL was set to GREEN Added comment: 3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder due to a deficiency of the 3-hydroxy-3-methylglutarylCoA lyase (HMG-CoA lyase), a mitochondrial enzyme involved in ketogenesis and in the final step of l-leucine catabolism. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. Sources: NHS GMS, Literature |
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