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| Possible mitochondrial disorder - nuclear genes v3.108 | TRMT5 | Arina Puzriakova Phenotypes for gene: TRMT5 were changed from Combined oxidative phosphorylation deficiency 26, 616539 to Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | TRMT5 | Ivone Leong reviewed gene: TRMT5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 26, 616539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.4 | TRMT5 |
Ivone Leong gene: TRMT5 was added gene: TRMT5 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMT5 were set to Combined oxidative phosphorylation deficiency 26, 616539 |
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