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
0 reviews
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 606609
- Clinvar variants
- Variants in TREX1
- Penetrance
- Complete
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Intellectual disability
- Early onset or syndromic epilepsy
- Intracerebral calcification disorders
- Paediatric or syndromic cardiomyopathy
- COVID-19 research
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Retinal disorders
- Likely inborn error of metabolism
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Juvenile dermatomyositis
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Neurodegenerative disorders, adult onset
- DDG2P
- Fetal anomalies
- Familial cerebral small vessel disease
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