| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.836 | HADHB | Zornitza Stark Tag treatable tag was added to gene: HADHB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.278 | HADHB | Bryony Thompson Marked gene: HADHB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.278 | HADHB | Bryony Thompson Gene: hadhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.278 | HADHB | Bryony Thompson Classified gene: HADHB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.278 | HADHB | Bryony Thompson Gene: hadhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.277 | HADHB |
Bryony Thompson gene: HADHB was added gene: HADHB was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHB were set to 25778941; 30682426; 9259266; 29956646 Phenotypes for gene: HADHB were set to Trifunctional protein deficiency MIM#609015 Review for gene: HADHB was set to GREEN Added comment: The heterooctameric mitochondrial trifunctional protein (MTP), composed of four α- and β-subunits harbours three enzymes that each perform a different function in mitochondrial fatty acid β-oxidation. MTP deficiency is a defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. Sources: NHS GMS, Literature |
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