TK2

thymidine kinase 2, mitochondrial
OMIM: 188250, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green TK2 in Rhabdomyolysis and metabolic muscle disorders Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.48 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory UKGTN Literature Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Green TK2 in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Green TK2 in Mitochondrial DNA maintenance disorder Version 3.6 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069
Red TK2 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.22 Latest signed off version: v5.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red Expert list
Green TK2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Thymidine kinase 2 deficiency (Disorders of pyrimidine metabolism) Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Mitochondrial DNA Depletion Syndrome
Green TK2 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant 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), 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)
Green TK2 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069
Green TK2 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	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 3.87 Latest signed off version: v3.1 (22 Mar 2023) 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Green TK2 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.168 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	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 Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Mitochondrial DNA Depletion Syndrome
Red TK2 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green TK2 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069
Green TK2 in Acute rhabdomyolysis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 1.18 Latest signed off version: v1.7 (31 May 2023)	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 Version 1.5 Latest signed off version: v1.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560