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29 Dec 2025	Likely inborn error of metabolism v8.86	TK2	Arina Puzriakova Phenotypes for gene: TK2 were changed from 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) to Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069
13 Feb 2019	Likely inborn error of metabolism v1.47	TK2	Ivone Leong Source NHS GMS was added to TK2. Source London North GLH was added to TK2.
16 Dec 2018	Likely inborn error of metabolism 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
16 Dec 2018	Likely inborn error of metabolism 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)