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| Likely inborn error of metabolism - targeted testing not possible v1.47 | TK2 |
Ivone Leong Source NHS GMS was added to TK2. Source London North GLH was added to TK2. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | TK2 | Ellen McDonagh Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity for gene: TK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | TK2 |
Ellen McDonagh gene: TK2 was added gene: TK2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TK2 were set to 27604308 Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Thymidine kinase 2 deficiency (Disorders of pyrimidine metabolism) |
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