Autoinflammatory Disorders
Gene: TREX1
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
*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
Gene: trex1 has been classified as Green List (High Evidence).
Gene: trex1 has been classified as Green List (High Evidence).
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