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Possible mitochondrial disorder - nuclear genes

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

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069

Publications

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

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

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069
OMIM
188250
Clinvar variants
Variants in TK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: TK2 was added gene: TK2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TK2 were set to 21937588 Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069