| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.836 | ETFB | Zornitza Stark Tag treatable tag was added to gene: ETFB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.121 | ETFB | Zornitza Stark Marked gene: ETFB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.121 | ETFB | Zornitza Stark Gene: etfb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.100 | ETFB | Bryony Thompson Classified gene: ETFB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.100 | ETFB | Bryony Thompson Gene: etfb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.99 | ETFB |
Bryony Thompson gene: ETFB was added gene: ETFB was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFB were set to 12815589; 7912128 Phenotypes for gene: ETFB were set to Glutaric acidemia IIB MIM#231680; Multiple acyl-CoA dehydrogenase deficiency (MADD) Review for gene: ETFB was set to GREEN Added comment: The enzyme encoded by this gene is required for electron transfer to the main respiratory chain in the mitochondria. >3 cases reported. Very similar phenotypes to ETFA and ETFDH. Sources: Literature |
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| Mitochondrial disease v0.98 | ETFA |
Bryony Thompson gene: ETFA was added gene: ETFA was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFA were set to 1882842; 12815589 Phenotypes for gene: ETFA were set to Glutaric acidemia IIA MIM#231680; Multiple acyl-CoA dehydrogenase deficiency (MADD) Review for gene: ETFA was set to GREEN Added comment: The enzyme encoded by this gene is required for electron transfer to the main respiratory chain. >3 cases reported. Very similar phenotypes to ETFB and ETFDH. Sources: Literature |
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