Early onset dystonia
Gene: TREX1
TREX1 (three prime repair exonuclease 1)
EnsemblGeneIds (GRCh38): ENSG00000213689
EnsemblGeneIds (GRCh37): ENSG00000213689
OMIM: 606609, Gene2Phenotype
TREX1 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000213689
EnsemblGeneIds (GRCh37): ENSG00000213689
OMIM: 606609, Gene2Phenotype
TREX1 is in 21 panels
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Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 606609
- Clinvar variants
- Variants in TREX1
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Intracerebral calcification disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset leukodystrophy
- DDG2P
- COVID-19 research
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Early onset or syndromic epilepsy
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Early onset dystonia
- Retinal disorders
- Juvenile dermatomyositis
- Adult onset neurodegenerative disorder
- Rare genetic inflammatory skin disorders
- Intellectual disability
- Familial cerebral small vessel disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Adult onset dystonia, chorea or related movement disorder
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 ()TREX1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory