Congenital myopathy
Gene: TK2
TK2 (thymidine kinase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000166548
EnsemblGeneIds (GRCh37): ENSG00000166548
OMIM: 188250, Gene2Phenotype
TK2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000166548
EnsemblGeneIds (GRCh37): ENSG00000166548
OMIM: 188250, Gene2Phenotype
TK2 is in 16 panels
1 review
Anna Sarkozy (Great Ormond Street Hospital)
(Slowly) progresive ophthalmoplegia and proximal muscle weakness with muscle atrophy. Clinically overlapping CM and CMD phenotypesCreated: 22 May 2026, 1:49 p.m. | Last Modified: 22 May 2026, 1:49 p.m.
Panel Version: 7.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- NHS GMS
- OMIM
- 188250
- Clinvar variants
- Variants in TK2
- Penetrance
- None
- Panels with this gene
-
- Congenital muscular dystrophy
- Mitochondrial DNA maintenance disorder
- Acute rhabdomyolysis
- Intellectual disability
- DDG2P
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Fetal anomalies
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Congenital myopathy
- Possible mitochondrial disorder - nuclear genes
- Paediatric pseudo-obstruction syndrome
- Arthrogryposis
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
History Filter Activity
22 May 2026, Gel status: 0
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: tk2 has been removed from the panel.
22 May 2026, Gel status: 1
Created, Added New Source, Set mode of inheritance
Arina Puzriakova (Genomics England Curator)gene: TK2 was added gene: TK2 was added to Congenital myopathy. Sources: NHS GMS Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal