Early onset dystonia
Gene: TPK1
TPK1 (thiamin pyrophosphokinase 1)
EnsemblGeneIds (GRCh38): ENSG00000196511
EnsemblGeneIds (GRCh37): ENSG00000196511
OMIM: 606370, Gene2Phenotype
TPK1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000196511
EnsemblGeneIds (GRCh37): ENSG00000196511
OMIM: 606370, Gene2Phenotype
TPK1 is in 10 panels
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Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 606370
- Clinvar variants
- Variants in TPK1
- Penetrance
- Complete
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Pyruvate dehydrogenase (PDH) deficiency
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Intellectual disability
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
17 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
28 Apr 2015, Gel status: 1
Added New Source
GEL ()TPK1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory