This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Aicardi-Goutieres syndrome 1, dominant and recessive225750
- {Systemic lupus erythematosus, susceptibility to}152700
- OMIM
- 606609
- Clinvar variants
- Variants in TREX1
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Rare genetic inflammatory skin disorders
- Intellectual disability
- Adult onset neurodegenerative disorder
- Paediatric or syndromic cardiomyopathy
- Intracerebral calcification disorders
- Retinal disorders
- COVID-19 research
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset leukodystrophy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset dystonia
- Early onset or syndromic epilepsy
- Juvenile dermatomyositis
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- DDG2P
- Familial cerebral small vessel disease
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: TREX1 was added gene: TREX1 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive225750; {Systemic lupus erythematosus, susceptibility to}152700