Genomics England

TK2

thymidine kinase 2, mitochondrial

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM 258276
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 3.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 6.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560