| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.221 | SPATA5 | Bryony Thompson Marked gene: SPATA5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.221 | SPATA5 | Bryony Thompson Gene: spata5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.221 | SPATA5 | Bryony Thompson Classified gene: SPATA5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.221 | SPATA5 | Bryony Thompson Gene: spata5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.220 | SPATA5 |
Bryony Thompson gene: SPATA5 was added gene: SPATA5 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5 were set to 30009132; 29343804 Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Review for gene: SPATA5 was set to GREEN Added comment: At least five cases with biallelic variants had a clinical presentation resembling a mitochondrial disorder. Functional assays showed SPATA5-deficient neurons had a significant imbalance in the mitochondrial fusion-fission rate, impaired energy production and short axons. Sources: NHS GMS |
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