Adult onset dystonia, chorea or related movement disorder
Gene: TREX1EnsemblGeneIds (GRCh38): ENSG00000213689
EnsemblGeneIds (GRCh37): ENSG00000213689
OMIM: 606609, Gene2Phenotype
TREX1 is in 21 panels
2 reviews
Louise Daugherty (Genomics England Curator)
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:51 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Emily Jones (North Bristol NHS Trust)
Numerous variants reported. Dystonia can be a feature. Onset in infancyCreated: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Vasculopathy, retinal, with cerebral leukodystrophy, 192315
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Vasculopathy, retinal, with cerebral leukodystrophy, 192315
- Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
- Dystonia
- OMIM
- 606609
- Clinvar variants
- Variants in TREX1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Rare genetic inflammatory skin disorders
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Intracerebral calcification disorders
- Early onset or syndromic epilepsy
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Likely inborn error of metabolism
- Inherited white matter disorders
- Adult onset leukodystrophy
- Paediatric or syndromic cardiomyopathy
- Adult onset neurodegenerative disorder
- Intellectual disability
- Early onset dystonia
- Juvenile dermatomyositis
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Familial cerebral small vessel disease
- Retinal disorders
History Filter Activity
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: TREX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 for gene: TREX1 Publications for gene TREX1 were changed from to 25582466
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TREX1.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to TREX1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TREX1 was added gene: TREX1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: TREX1 was set to Phenotypes for gene: TREX1 were set to Dystonia