Autoinflammatory Disorders

Gene: TREX1

Green List (high evidence)

TREX1 (three prime repair exonuclease 1)
EnsemblGeneIds (GRCh38): ENSG00000213689
EnsemblGeneIds (GRCh37): ENSG00000213689
OMIM: 606609, Gene2Phenotype
TREX1 is in 24 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 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)

Green List (high evidence)

*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

History Filter Activity

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trex1 has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trex1 has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 1

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