| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.308 | MICU2 | Bryony Thompson Marked gene: MICU2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.308 | MICU2 | Bryony Thompson Gene: micu2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.308 | MICU2 |
Bryony Thompson gene: MICU2 was added gene: MICU2 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: MICU2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MICU2 were set to 29053821 Phenotypes for gene: MICU2 were set to cognitive impairment; spasticity; white matter involvement Review for gene: MICU2 was set to RED Added comment: Single multiplex consanguineous family segregating a homozygous truncating variant. Abnormal mitochondrial calcium homeostasis in patient cells. Sources: NHS GMS |
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