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| Mitochondrial disorders v1.446 | PTRH2 | Sarah Leigh Phenotypes for gene: PTRH2 were changed from to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 616263 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.446 | PTRH2 | Sarah Leigh Publications for gene: PTRH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | PTRH2 | Sarah Leigh reviewed gene: PTRH2: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 28328138, 31057140, 25558065; Phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.422 | PTRH2 |
Sarah Leigh gene: PTRH2 was added gene: PTRH2 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: PTRH2 was set to |
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