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Severe Paediatric Disorders v0.12 | TK2 | Louise Daugherty reviewed gene: TK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | TK2 | Louise Daugherty Publications for gene TK2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | TK2 | Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 for gene: TK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | TK2 | Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 for gene: TK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | TK2 | Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 for gene: TK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | TK2 | Louise Daugherty Added phenotypes ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069; Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 for gene: TK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | TK2 |
Louise Daugherty Mode of inheritance for gene TK2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 for gene: TK2 |
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Severe Paediatric Disorders v0.7 | TK2 | Louise Daugherty Source Next Generation Children Project was added to TK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | TK2 |
Louise Daugherty Source Expert Review Green was added to TK2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | TK2 |
Louise Daugherty gene: TK2 was added gene: TK2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TK2 was set to |