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  3. MT-TK
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Early onset or syndromic epilepsy

Gene: MT-TK

Green List (high evidence)
MT-TK (mitochondrially encoded tRNA lysine)
EnsemblGeneIds (GRCh38): ENSG00000210156
EnsemblGeneIds (GRCh37): ENSG00000210156
OMIM: 590060, Gene2Phenotype
MT-TK is in 11 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MITOCHONDRIAL following NHS Genomic Medicine Service approval.
Created: 11 Mar 2026, 3:39 p.m. | Last Modified: 11 Mar 2026, 3:39 p.m.
Panel Version: 8.134
Created: 11 Mar 2026, 3:39 p.m.
Last Modified: 11 Mar 2026, 3:39 p.m.
Panel version: 8.134

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: This gene should be promoted to Green at the next GMS panel update.
Created: 30 Jul 2025, 1:41 p.m. | Last Modified: 30 Jul 2025, 1:41 p.m.
Panel Version: 8.18
Adding MT-TK to this panel by suggestion of North East and Yorkshire GLH where a patient was identified with a tier 3 diagnostic MT-TK variant due to absence of the gene on this applied panel.

MT-TK gene has been associated with severe mitochondrial diseases which includes myoclonic epilepsy - multiple (at least 8) unrelated cases with epilepsy as a presenting feature have been reported in the literature (PMID: 1463006; 8228033; 18651333; 29663531; 33766967)
Sources: Literature
Created: 30 Jul 2025, 1:40 p.m.

Mode of inheritance
MITOCHONDRIAL

Phenotypes
MERRF syndrome, MONDO:0010790

Publications

Created: 30 Jul 2025, 1:40 p.m.

Panel version: 8.16

History Filter Activity

20 Mar 2026, Gel status: 3

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag gene-checked tag was added to gene: MT-TK.

11 Mar 2026, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: MT-TK. Tag Q3_25_NHS_review was removed from gene: MT-TK.

11 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to MT-TK. Source Expert Review Green was added to MT-TK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Jul 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: mt-tk has been classified as Amber List (Moderate Evidence).

30 Jul 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: mt-tk has been classified as Amber List (Moderate Evidence).

30 Jul 2025, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: MT-TK was added gene: MT-TK was added to Early onset or syndromic epilepsy. Sources: Literature locus-type-rna-transfer, Q3_25_promote_green, Q3_25_NHS_review tags were added to gene: MT-TK. Mode of inheritance for gene gene: MT-TK was set to MITOCHONDRIAL Publications for gene: MT-TK were set to 1463006; 8228033; 18651333; 29663531; 33766967 Phenotypes for gene: MT-TK were set to MERRF syndrome, MONDO:0010790 Review for gene: MT-TK was set to GREEN