Mitochondrial disorders
Gene: MT-TK

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

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Two reviewers agree this should be promoted from amber.
Created: 8 Feb 2016, 2:10 p.m.

Created: 8 Feb 2016, 2:10 p.m.

Panel version: 0.54

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:30 a.m.

Panel version: 0.37

Details

Mode of Inheritance

MITOCHONDRIAL

Sources

Expert Review Green
Emory Genetics Laboratory
UKGTN

Tags

locus-type-rna-transfer gene-checked

OMIM

590060

Clinvar variants

Variants in MT-TK

Penetrance

Complete

Panels with this gene

History Filter Activity

15 Jul 2024, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag locus-type-rna-transfer tag was added to gene: MT-TK.

4 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

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

8 Feb 2016, Gel status: 4