Rhabdomyolysis and metabolic muscle disorders

Gene: TK2

Green List (high evidence)

TK2 (thymidine kinase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000166548
EnsemblGeneIds (GRCh37): ENSG00000166548
OMIM: 188250, Gene2Phenotype
TK2 is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: changed phenotype to Mitochondrial DNA depletion syndrome 2 (myopathic type), as Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 relates to variants of the gene SUCLA2, not TK2
Created: 8 Jan 2019, 5:23 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 6 variants reported.
Created: 5 Dec 2016, 2:34 p.m.
Comment on phenotypes: Also associated with ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 617069 (one case, two variants)
Created: 5 Dec 2016, 2:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Literature
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
OMIM
188250
Clinvar variants
Variants in TK2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

5 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Dec 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TK2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073

1 Dec 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

TK2 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen,UKGTN

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TK2 was created by sleigh