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
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
- Intracerebral calcification disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Paediatric or syndromic cardiomyopathy
- Retinal disorders
- Dystonia, chorea or related movement disorder, adult onset
- Leukodystrophy, adult onset
- COVID-19 research
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Juvenile dermatomyositis
- Fetal anomalies
- Early onset or syndromic epilepsy
- DDG2P
- 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