This Panel is marked as Deleted
Mitochondrial disorders Victorian Clinical Genetics Services
Gene: TK2
TK2 (thymidine kinase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000166548
EnsemblGeneIds (GRCh37): ENSG00000166548
OMIM: 188250, Gene2Phenotype
TK2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000166548
EnsemblGeneIds (GRCh37): ENSG00000166548
OMIM: 188250, Gene2Phenotype
TK2 is in 15 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 188250
- Clinvar variants
- Variants in TK2
- Penetrance
- None
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Mitochondrial DNA maintenance disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- Paediatric pseudo-obstruction syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Arthrogryposis
- Fetal anomalies
- Mitochondrial disorders
- Rhabdomyolysis and metabolic muscle disorders
- DDG2P
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Congenital muscular dystrophy
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)TK2 was added to Mitochondrial disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)TK2 was created by Sarah Leigh