| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.251 | HMGCS2 | Bryony Thompson Marked gene: HMGCS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.251 | HMGCS2 | Bryony Thompson Gene: hmgcs2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.251 | HMGCS2 | Bryony Thompson Classified gene: HMGCS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.251 | HMGCS2 | Bryony Thompson Gene: hmgcs2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.250 | HMGCS2 |
Bryony Thompson gene: HMGCS2 was added gene: HMGCS2 was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCS2 were set to 25778941; 9337379; 23751782 Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency MIM#605911 Review for gene: HMGCS2 was set to GREEN Added comment: Mitochondrial HMG-CoA synthase deficiency is a rare inherited metabolic disorder that affects ketone-body synthesis. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. Sources: NHS GMS, Literature |
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