| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital ophthalmoplegia v0.68 | POLG2 | Zornitza Stark Marked gene: POLG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.68 | POLG2 | Zornitza Stark Gene: polg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.68 | POLG2 | Zornitza Stark Publications for gene: POLG2 were set to PMID: 21555342; 16685652 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.67 | POLG2 | Zornitza Stark Classified gene: POLG2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.67 | POLG2 | Zornitza Stark Gene: polg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.66 | POLG2 |
Shannon LeBlanc gene: POLG2 was added gene: POLG2 was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: POLG2 were set to PMID: 21555342; 16685652 Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome 16 (hepatic type) - 618528; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 - 610131 Review for gene: POLG2 was set to GREEN Added comment: PEOA4 - age of onset range from infancy to adulthood. Sources: Literature |
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| Congenital ophthalmoplegia v0.65 | POLG | Zornitza Stark Marked gene: POLG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.65 | POLG | Zornitza Stark Gene: polg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.65 | POLG | Zornitza Stark Classified gene: POLG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.65 | POLG | Zornitza Stark Gene: polg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.59 | POLG |
Shannon LeBlanc gene: POLG was added gene: POLG was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450 Review for gene: POLG was set to GREEN Added comment: Well established gene-disease associaition. Variable age of onset of ophthalmoplegia, including infancy and early childhood. Sources: Literature |
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