MT-TK

mitochondrially encoded tRNA lysine
OMIM: 590060, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green MT-TK in Multiple lipomas Version 1.2	review	MITOCHONDRIAL	Sources Expert Review Green Literature Phenotypes multiple symmetric lipomatosis Tags gene-checked locus-type-rna-transfer
Red MT-TK in Gastrointestinal neuromuscular disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.30	review	MITOCHONDRIAL	Sources Expert Review Red Literature Phenotypes MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
Amber MT-TK in Optic neuropathy Level 2: Ophthalmology Version 5.48 Latest signed off version: v5.0 (30 Apr 2025)	review	MITOCHONDRIAL	Sources Expert Review Amber Literature Phenotypes MERRF syndrome, MONDO:0010790 optic atrophy, MONDO:0003608 Tags locus-type-rna-transfer technical-limitations
Red MT-TK in Congenital myopathy Level 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MITOCHONDRIAL	Sources NHS GMS Expert Review Red Literature Phenotypes MERRF syndrome, MONDO:0010790 inborn mitochondrial myopathy, MONDO:0009637 Tags locus-type-rna-transfer
Green MT-TK in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green MT-TK in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MITOCHONDRIAL	Sources Expert Review Green Tags locus-type-rna-transfer gene-checked
Amber MT-TK in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MITOCHONDRIAL	Sources Expert Review Amber Literature Phenotypes MERRF syndrome, MONDO:0010790 Sensorineural hearing impairment, HP:0000407 Tags locus-type-rna-transfer technical-limitations
Amber MT-TK in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MITOCHONDRIAL	Sources Expert Review Amber Literature Phenotypes MERRF syndrome, MONDO:0010790 Tags Q3_25_promote_green Q3_25_NHS_review locus-type-rna-transfer
Red MT-TK in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MITOCHONDRIAL	Sources Expert Review Red Expert Review Red Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes MERRF syndrome 545000 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
Green MT-TK in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	MITOCHONDRIAL	Sources Expert Review Green Emory Genetics Laboratory UKGTN Tags locus-type-rna-transfer gene-checked
No list MT-TK in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Phenotypes MERRF SYNDROME Tags curated_removed