Autoinflammatory Disorders
Gene: TREX1EnsemblGeneIds (GRCh38): ENSG00000213689
EnsemblGeneIds (GRCh37): ENSG00000213689
OMIM: 606609, Gene2Phenotype
TREX1 is in 24 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Sources: Expert listCreated: 5 Apr 2020, 10:59 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Systemic lupus erythematosus, susceptibility to} 152700; Aicardi-Goutieres syndrome 1, dominant and recessive 225750
Kristin Rigbye (Victorian Clinical Genetics Services)
*AD Aicardi-Goutieres syndrome caused by a single missense - p.D200N - dominant negative mechanism
*AR Aicardi-Goutieres syndrome, systemic lupus erythematosus - loss of function mechanism (variants impair the enzyme activity of the protein (PMID: 21937424))
*Chilblain lupus caused by a single missense - p.D18N - dominant negative mechanism
*Retinal Vasculopathy with Cerebral Leukodystrophy caused by heterozygous C-terminal frameshifts resulting in truncated proteins that retain exonuclease activity but lose normal perinuclear localization (OMIM)Created: 19 Feb 2020, 2:03 a.m. | Last Modified: 19 Feb 2020, 2:03 a.m.
Panel Version: 0.1386
Phenotypes
Aicardi-Goutieres syndrome 1, dominant and recessive; Chilblain lupus; {Systemic lupus erythematosus, susceptibility to}; Vasculopathy, retinal, with cerebral leukodystrophy
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- {Systemic lupus erythematosus, susceptibility to} 152700
- Aicardi-Goutieres syndrome 1, dominant and recessive 225750
- OMIM
- 606609
- Clinvar variants
- Variants in TREX1
- Penetrance
- None
- Panels with this gene
-
- Cerebral Palsy
- Stroke
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Nucleotide metabolism disorders
- Prepair 1000+
- Brain Calcification
- BabyScreen+ newborn screening
- Autoinflammatory Disorders
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Disorders of immune dysregulation
- Regression
- Early-onset Dementia
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trex1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trex1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TREX1 was added gene: TREX1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: 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 {Systemic lupus erythematosus, susceptibility to} 152700; Aicardi-Goutieres syndrome 1, dominant and recessive 225750 Review for gene: TREX1 was set to GREEN