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Severe Paediatric Disorders v0.12 | POLG2 | Louise Daugherty reviewed gene: POLG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | POLG2 | Louise Daugherty Publications for gene POLG2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | POLG2 | Louise Daugherty Mode of inheritance for gene POLG2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | POLG2 | Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131; Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 for gene: POLG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | POLG2 | Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131; Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 for gene: POLG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | POLG2 | Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131; Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 for gene: POLG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | POLG2 | Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 for gene: POLG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | POLG2 | Louise Daugherty Source Next Generation Children Project was added to POLG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | POLG2 |
Louise Daugherty Source Expert Review Green was added to POLG2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | POLG2 |
Louise Daugherty gene: POLG2 was added gene: POLG2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: POLG2 was set to |