Rare genetic inflammatory skin disorders
Gene: TREX1EnsemblGeneIds (GRCh38): ENSG00000213689
EnsemblGeneIds (GRCh37): ENSG00000213689
OMIM: 606609, Gene2Phenotype
TREX1 is in 21 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previous phenotypes:
Chillblain lupus;AGS1, CHILBLAIN LUPUS 1;Aicardi-Goutieres syndrome;AICARDI-GOUTIERES SYNDROME 1;CHBL1Created: 24 Mar 2021, 2:13 p.m. | Last Modified: 24 Mar 2021, 2:13 p.m.
Panel Version: 1.36
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: TREX1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:02 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750
- Chilblain lupus, OMIM:610448
- OMIM
- 606609
- Clinvar variants
- Variants in TREX1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intracerebral calcification disorders
- COVID-19 research
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Early onset or syndromic epilepsy
- Early onset dystonia
- Likely inborn error of metabolism
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Juvenile dermatomyositis
- Familial cerebral small vessel disease
- DDG2P
- Retinal disorders
- Rare genetic inflammatory skin disorders
- Paediatric or syndromic cardiomyopathy
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TREX1 were changed from Chillblain lupus; AGS1, CHILBLAIN LUPUS 1; Aicardi-Goutieres syndrome; AICARDI-GOUTIERES SYNDROME 1; CHBL1 to Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750; Chilblain lupus, OMIM:610448
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes CHBL1; AICARDI-GOUTIERES SYNDROME 1; AGS1, CHILBLAIN LUPUS 1 for gene: TREX1 Publications for gene TREX1 were changed from to 16845398; 17660818
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to TREX1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: TREX1 was added gene: TREX1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome; Chillblain lupus