Activity
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| POLG-related disorder v1.2 | POLG | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #157640, #203700, #258450, #607459 & #613662) and the OMIM records were last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POLG-related disorder v1.2 | POLG | Achchuthan Shanmugasundram Phenotypes for gene: POLG were changed from to Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640; Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450; Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, MONDO:0024528; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, MONDO:0009783; sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, MONDO:0011835; mitochondrial DNA depletion syndrome 4a, MONDO:0008758; mitochondrial DNA depletion syndrome 4b, MONDO:0013350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POLG-related disorder v1.1 | Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POLG-related disorder v1.0 | Sarah Leigh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POLG-related disorder v0.3 | Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POLG-related disorder v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POLG-related disorder v0.1 | POLG | Achchuthan Shanmugasundram reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POLG-related disorder v0.1 | POLG |
Achchuthan Shanmugasundram gene: POLG was added gene: POLG was added to POLG-related disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| POLG-related disorder v0.0 |
Achchuthan Shanmugasundram Added Panel POLG-related disorder Set list of related panels to R315 Set panel types to: GMS Rare Disease |
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