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| Possible mitochondrial disorder - nuclear genes v1.145 | POLG2 | Arina Puzriakova Publications for gene: POLG2 were set to 30157269 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.144 | POLG2 | Arina Puzriakova Phenotypes for gene: POLG2 were changed from Mitochondrial DNA depletion syndrome, NA; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 to Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528; Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.105 | POLG2 | Arina Puzriakova reviewed gene: POLG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31778857, 21555342, 27592148, 16685652; Phenotypes: ?Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM: 618528, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM: 610131, ?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM: 619425; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | POLG2 | Ivone Leong reviewed gene: POLG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30157269; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131, Mitochondrial DNA depletion syndrome, NA; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.3 | POLG2 |
Ivone Leong gene: POLG2 was added gene: POLG2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: POLG2 were set to 30157269 Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome, NA; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 |
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