Adult onset neurodegenerative disorder
Gene: TREX1EnsemblGeneIds (GRCh38): ENSG00000213689
EnsemblGeneIds (GRCh37): ENSG00000213689
OMIM: 606609, Gene2Phenotype
TREX1 is in 21 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:22 p.m. | Last Modified: 1 Feb 2023, 12:22 p.m.
Panel Version: 3.49
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on classification: Sufficient evidence to promote this gene to Green at the next GMS panel update. >3 unrelated cases including relevant phenotypes and with confirmed cases of adult-onset.
TREX1 has also been associated with relevant phenotypes in both OMIM and G2P.Created: 4 Jan 2023, 10:02 p.m. | Last Modified: 4 Jan 2023, 10:03 p.m.
Panel Version: 3.19
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750; Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315
Eleanor Williams (Genomics England Curator)
Review submitted on behalf of David Lynch, James Polke, Henry Houlden, Lucy Jenkins. Mode of inheritance: AD. Phenotype: Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations. Evidence: MIM: 192315Created: 22 Dec 2022, 12:10 p.m. | Last Modified: 22 Dec 2022, 12:10 p.m.
Panel Version: 3.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750
- Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315
- OMIM
- 606609
- Clinvar variants
- Variants in TREX1
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- White matter disorders and cerebral calcification - narrow panel
- Rare genetic inflammatory skin disorders
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- DDG2P
- Intracerebral calcification disorders
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- COVID-19 research
- Adult onset neurodegenerative disorder
- Retinal disorders
- Likely inborn error of metabolism
- Early onset dystonia
- Juvenile dermatomyositis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Familial cerebral small vessel disease
- Undiagnosed metabolic disorders
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_23_promote_green was removed from gene: TREX1.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to TREX1. Source Expert Review Green was added to TREX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_23_promote_green tag was added to gene: TREX1.
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: TREX1 were changed from Dystonia to Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750; Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: TREX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: trex1 has been classified as Amber List (Moderate Evidence).
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: TREX1 was added gene: TREX1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: TREX1 was set to Unknown Phenotypes for gene: TREX1 were set to Dystonia