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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.28 | TK2 | Ida Ertmanska Publications for gene: TK2 were set to 22345218 23303857 24198295 31092255 25948719 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.27 | TK2 | Ida Ertmanska Phenotypes for gene: TK2 were changed from mitochondrial disease; limb girdle muscular dystrophy; congenital muscular dystrophy to Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560; mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.26 | TK2 | Ida Ertmanska Classified gene: TK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.26 | TK2 | Ida Ertmanska Gene: tk2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.25 | TK2 |
Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: TK2. Tag Q4_25_NHS_review tag was added to gene: TK2. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.25 | TK2 |
Ida Ertmanska changed review comment from: PMID: 24198295 Alston et al., 2013 A 74-year-old woman with sensorineural hearing loss, progressive muscle weakness and rapidly progressive respiratory failure. Compound het TK2 variants c.103C>T (p.Gln35*) and c.582G>T (p.Lys194Asn). PMID: 35280287 Manini et al., 2022 55yo Italian woman; ptosis and dysphonia with onset at 8yo, dysphagia at 20yo, slowly progressive limb weakness reported in adulthood; compound het TK2 mutations: c.278A>G, p.Asn93Ser and c.543del, p.Leu182Phefs*11; mtDNA depletion demonstrated by qPCR in muscle tissue. PMID: 37527940 Morganroth et al., 2023 Report of a 40yo male patient with muscle weakness (limb girdle weakness, chronic progressive external ophthalmoplegia, dysphagia) and respiratory failure; developed limb girdle weakness at 21yo; homozygous for TK2 c.604_606del (p.K202del). Mother confirmed a heterozygous carrier. PMID: 38544965 Ceballos et al., 2024 Cohort of 53 Spanish patients with biallelic variants in TK2. 40% of patients presented with disease before 12yo. 50/53 patients had a diagnosis of mitochondrial myopathy based on muscle biopsy findings. PMID: 40098049 Li et al., 2025 Female patient with early-onset lipid storage myopathy (onset at 8 months old); compound het variatns in TK2: c.311G > A (p.Arg104His) and a deletion spanning TK2 exons 5-10 (g.66545871_66565372del); COX negative fibers and accumulation of lipid droplets noted on biceps biopsy; detected decrease in TK2 protein and mtDNA copy number in patient muscle samples. Based on literature review of 50 TK2-related myopathy cases, authors note that the same TK2 variant may cause variable onset and severity of disease between patients. Variable presentation of limb girdle muscle weakness, ptosis, respiratory failure, and facial weakness; range of congenital to adult disease onset. TK2 is associated with AR Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM:609560 and putatively associated with AR Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM:617069 (OMIM accessed 15th Dec 2025).; to: PMID: 24198295 Alston et al., 2013 A 74-year-old woman with sensorineural hearing loss, progressive muscle weakness and rapidly progressive respiratory failure. Compound het TK2 variants c.103C>T (p.Gln35*) and c.582G>T (p.Lys194Asn). PMID: 35280287 Manini et al., 2022 55yo Italian woman; ptosis and dysphonia with onset at 8yo, dysphagia at 20yo, slowly progressive limb weakness reported in adulthood; compound het TK2 mutations: c.278A>G, p.Asn93Ser and c.543del, p.Leu182Phefs*11; mtDNA depletion demonstrated by qPCR in muscle tissue. PMID: 37527940 Morganroth et al., 2023 Report of a 40yo male patient with muscle weakness (limb girdle weakness, chronic progressive external ophthalmoplegia, dysphagia) and respiratory failure; developed limb girdle weakness at 21yo; homozygous for TK2 c.604_606del (p.K202del). Mother confirmed to be a heterozygous carrier. PMID: 38544965 Ceballos et al., 2024 Cohort of 53 Spanish patients with biallelic variants in TK2. 40% of patients presented with disease before 12yo. 50/53 patients had a diagnosis of mitochondrial myopathy based on muscle biopsy findings. PMID: 40098049 Li et al., 2025 Female patient with early-onset lipid storage myopathy (onset at 8 months old); compound het variants in TK2: c.311G > A (p.Arg104His) and a deletion spanning TK2 exons 5-10 (g.66545871_66565372del); COX negative fibers and accumulation of lipid droplets noted on biceps biopsy; detected decrease in TK2 protein and mtDNA copy number in patient muscle samples. Based on literature review of 50 TK2-related myopathy cases, authors note that the same TK2 variant may cause variable onset and severity of disease between patients. Variable presentation of limb girdle muscle weakness, ptosis, respiratory failure, and facial weakness; range of congenital to adult disease onset. TK2 is associated with AR Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM:609560 and putatively associated with AR Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM:617069 (OMIM accessed 15th Dec 2025). |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.25 | TK2 | Ida Ertmanska commented on gene: TK2: Comment on list classification: There are numerous individuals reported in literature with biallelic TK2 variants and mitochondrial myopathy. Affected individuals may present with disease of variable severity and age of onset. The phenotype range includes progressive muscle weakness, ptosis, chronic progressive external ophthalmoplegia (CPEO), and respiratory failure. Based on available evidence, this gene should be promoted to Green for Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.25 | TK2 | Ida Ertmanska reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24198295, 35280287, 37527940, 38544965, 40098049; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560, mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.22 | TK2 |
William Macken gene: TK2 was added gene: TK2 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: NHS GMS Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TK2 were set to 22345218 23303857 24198295 31092255 25948719 Phenotypes for gene: TK2 were set to mitochondrial disease; limb girdle muscular dystrophy; congenital muscular dystrophy Penetrance for gene: TK2 were set to Complete Review for gene: TK2 was set to GREEN Added comment: This is already green in mitochondrial disease. It causes limb girdle muscular dystrophy and should be on this panel and the wider related panel other rare neuromuscular Sources: NHS GMS |
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