TK2

thymidine kinase 2, mitochondrial
OMIM: 188250, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green TK2 in Rhabdomyolysis and metabolic muscle disorders Level 2: Neurology Version 6.9 Latest signed off version: v6.8 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Literature Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560
Green TK2 in Mitochondrial DNA maintenance disorder Level 2: Mitochondrial Version 3.11 Latest signed off version: v3.10 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069
Amber TK2 in Congenital muscular dystrophy Level 2: Neurology Version 7.27 Latest signed off version: v7.26 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301 Tags Q4_25_promote_green Q4_25_NHS_review
Red TK2 in Arthrogryposis Level 2: Neurology Version 10.23 Latest signed off version: v10.16 (12 Aug 2026)	review	Not set	Sources Expert Review Red Expert list
Amber TK2 in Congenital myopathy Level 2: Neurology Version 7.80 Latest signed off version: v7.77 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301 Tags Q2_26_promote_green Q2_26_NHS_review
Amber TK2 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 6.18 Latest signed off version: v6.17 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301 Tags Q4_25_promote_green Q4_25_NHS_review
Green TK2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069
Green TK2 in Likely inborn error of metabolism Level 2: Metabolic Version 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069
Green TK2 in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.23 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069
Green TK2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560
Green TK2 in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM 258276
Red TK2 in Intellectual disability Level 2: Developmental disorders Version 11.28 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560
Green TK2 in Mitochondrial disorders Level 2: Mitochondrial Version 10.23 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069
Red TK2 in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	Not set	Sources Expert Review Red London North GLH
Green TK2 in Acute rhabdomyolysis Level 2: Neurology Version 3.1 Latest signed off version: v3.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560
Red TK2 in Paediatric pseudo-obstruction syndrome Level 2: Gastrohepatology Version 2.8 Latest signed off version: v2.7 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560