Inherited white matter disorders
Gene: TREX1EnsemblGeneIds (GRCh38): ENSG00000213689
EnsemblGeneIds (GRCh37): ENSG00000213689
OMIM: 606609, Gene2Phenotype
TREX1 is in 21 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.Created: 12 Aug 2016, 7:09 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_611
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 6 Jul 2016, 1:52 p.m.
Comment on mode of inheritance: Aicardi-Goutieres syndrome 1, 225750 is dominant and recessive, the remaining phenotypes associated with gene are all monogenicCreated: 6 Jul 2016, 1:50 p.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)Created: 6 Jul 2016, 1:40 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Aicardi-Goutieres syndrome 1, dominant and recessive 225750
- Vasculopathy, retinal, with cerebral leukodystrophy 192315
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- OMIM
- 606609
- Clinvar variants
- Variants in TREX1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Intracerebral calcification disorders
- 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
- Early onset or syndromic epilepsy
- Fetal anomalies
- Familial cerebral small vessel disease
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TREX1 were set to 25655951; 27411419
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive 225750; Vasculopathy, retinal, with cerebral leukodystrophy 192315; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive 225750; Vasculopathy, retinal, with cerebral leukodystrophy 192315
Set publications
Sarah Leigh (Genomics England Curator)Publications for TREX1 were set to 25655951
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for TREX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for TREX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)TREX1 was added to Inherited white matter disorderspanel. Sources: UKGTN,Expert list
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)TREX1 was added to Inherited white matter disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene TREX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TREX1 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)TREX1 was created by ellenmcdonagh