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| Possible mitochondrial disorder - nuclear genes v4.19 | TK2 | Arina Puzriakova Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 to Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | TK2 | Ivone Leong reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937588; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.3 | TK2 |
Ivone Leong gene: TK2 was added gene: TK2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TK2 were set to 21937588 Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 |
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