This Panel is marked as Internal
Test MOI validation panel - do not edit
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
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Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- OMIM test - MOI is Both Bi and mono, AD, AR in OMIM - agree
- OMIM
- 606609
- Clinvar variants
- Variants in TREX1
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Intracerebral calcification disorders
- COVID-19 research
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Adult onset leukodystrophy
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Early onset dystonia
- Intellectual disability
- Juvenile dermatomyositis
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Familial cerebral small vessel disease
- White matter disorders and cerebral calcification - narrow panel
- Rare genetic inflammatory skin disorders
History Filter Activity
20 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: trex1 has been classified as Green List (High Evidence).
20 Oct 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: TREX1 was added gene: TREX1 was added to TEST mode of inheritance validation panel. Sources: Literature Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TREX1 were set to OMIM test - MOI is Both Bi and mono, AD, AR in OMIM - agree