| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.434 | CISD2 | Zornitza Stark Marked gene: CISD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.434 | CISD2 | Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.434 | CISD2 | Zornitza Stark Classified gene: CISD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.434 | CISD2 | Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.313 | CISD2 |
Bryony Thompson gene: CISD2 was added gene: CISD2 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CISD2 were set to 29237418; 28335035; 27459537; 26230298; 17846994 Phenotypes for gene: CISD2 were set to Wolfram syndrome 2 MIM#604928 Review for gene: CISD2 was set to GREEN Added comment: At least 3 families and a mouse model. Culture of patient-derived fibroblasts in glucose-free galactose medium revealed a respiratory chain defect in complexes I and II, and a trend towards decreased ATP levels. Sources: NHS GMS |
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