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  2. Early onset or syndromic epilepsy
  3. MT-TK
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Early onset or syndromic epilepsy

Gene: MT-TK

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

1 review

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

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