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
-
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Undiagnosed metabolic disorders
- Intracerebral calcification disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Retinal disorders
- COVID-19 research
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Adult onset leukodystrophy
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Juvenile dermatomyositis
- Adult onset dystonia, chorea or related movement disorder
- Familial cerebral small vessel disease
- Fetal anomalies
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