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| Severe Paediatric Disorders v0.12 | TOP3A | Louise Daugherty reviewed gene: TOP3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | TOP3A | Louise Daugherty Publications for gene TOP3A were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | TOP3A | Louise Daugherty Added phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 for gene: TOP3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | TOP3A | Louise Daugherty Added phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 for gene: TOP3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | TOP3A | Louise Daugherty Added phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 for gene: TOP3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | TOP3A | Louise Daugherty Added phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 for gene: TOP3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | TOP3A |
Louise Daugherty Mode of inheritance for gene TOP3A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 for gene: TOP3A |
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| Severe Paediatric Disorders v0.7 | TOP3A | Louise Daugherty Source Next Generation Children Project was added to TOP3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | TOP3A |
Louise Daugherty Source Expert Review Green was added to TOP3A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | TOP3A |
Louise Daugherty gene: TOP3A was added gene: TOP3A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TOP3A was set to |
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