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Mendeliome

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)

Well established gene-disease association.
Sources: Expert list
Created: 6 Feb 2021, 1:43 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750; Disorder of nucleotide metabolism

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive
  • Chilblain lupus
  • {Systemic lupus erythematosus, susceptibility to}
  • Vasculopathy, retinal, with cerebral leukodystrophy
OMIM
606609
Clinvar variants
Variants in TREX1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

17 Jan 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TREX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

19 Feb 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).

19 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome 1, dominant and recessive; Chilblain lupus; {Systemic lupus erythematosus, susceptibility to}; Vasculopathy, retinal, with cerebral leukodystrophy

19 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TREX1 were set to

19 Feb 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: TREX1 was changed from to Other

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TREX1 was added gene: TREX1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TREX1 was set to Unknown