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TREX1

three prime repair exonuclease 1

HCNC Approved Symbol
TREX1 (HGNC:12269)
Genomic Coordinates
3:48,465,830 - 48,467,645 (3p21.31)
Synonyms
DRN3, AGS1
Disease Associations
This gene is associated with the following 4 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
{Systemic lupus erythematosus, susceptibility to}
152700AD
Aicardi-Goutieres syndrome 1, dominant and recessive
225750AD; AR
Chilblain lupus
610448AD
Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations
192315AD

Diagnosed Cases

11Patients

In total, 11 patients were diagnosed with a variant in the TREX1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Autoimmunity
 3 (27.3%)
Global development delay
 2 (18.2%)
Immunodeficiency
 2 (18.2%)
Neutropenia
 2 (18.2%)
Pancytopenia
 2 (18.2%)