| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.311 | NNT | Zornitza Stark Marked gene: NNT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.311 | NNT | Zornitza Stark Gene: nnt has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.311 | NNT | Zornitza Stark Classified gene: NNT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.311 | NNT | Zornitza Stark Gene: nnt has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.310 | NNT | Zornitza Stark reviewed gene: NNT: Rating: AMBER; Mode of pathogenicity: None; Publications: 25778941; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.302 | NNT | Bryony Thompson Classified gene: NNT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.302 | NNT | Bryony Thompson Gene: nnt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.301 | NNT |
Bryony Thompson gene: NNT was added gene: NNT was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NNT were set to 26309815; 22634753 Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736 Review for gene: NNT was set to GREEN Added comment: >3 cases reported and a mouse model. A protein of the inner mitochondrial membrane with a key role in mitochondrial redox balance. Sources: NHS GMS |
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