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BabyScreen+ newborn screening

Gene: TK2

Green List (high evidence)

TK2 (thymidine kinase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000166548
EnsemblGeneIds (GRCh37): ENSG00000166548
OMIM: 188250, Gene2Phenotype
TK2 is in 10 panels

2 reviews

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

three phenotypes with divergent survival:
(1) infantile-onset myopathy (~43%) with severe mitochondrial DNA (mtDNA) depletion, frequent neurological involvement and rapid progression to early mortality (median post-onset survival (POS) 1.00, CI 0.58 to 2.33 years); other organ system involvements have been reported, including an encephalomyopathic presentation with hypotonia, weakness, epilepsy, and microcephaly
(2) childhood-onset myopathy (~40%) with mtDNA depletion, moderate-to-severe progression of generalised weakness and median POS at least 13 years
(3) late-onset myopathy (~17%) with mild limb weakness at onset and slow progression to respiratory insufficiency with median POS of 23 years. Ophthalmoparesis and facial weakness are frequent in adults

Can be treated with deoxycytidine (dC) and deoxythymidine (dT) - should be possible to obtain these for compassionate use (PMID: 31125140)
Created: 23 Dec 2022, 6:02 a.m. | Last Modified: 23 Dec 2022, 6:02 a.m.
Panel Version: 0.1645

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
myopathy; ophthalmoparesis

Publications

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

Strong gene disease association
Progressive weakness
Variable age of onset (infant and childhood onset types both <5 but can also be older onset)
Treatment: In Rx website: deoxycytidine (dC) and deoxythymidine (dT) - single clinical trial? availability in Australia?
Created: 19 Dec 2022, 4 a.m. | Last Modified: 19 Dec 2022, 4 a.m.
Panel Version: 0.1530

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 2 (myopathic type) MIM#609560

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Tags
treatable metabolic
OMIM
188250
Clinvar variants
Variants in TK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TK2 were set to

23 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tk2 has been classified as Green List (High Evidence).

23 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560

23 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: TK2. Tag metabolic tag was added to gene: TK2.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TK2 was added gene: TK2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome