Intracerebral calcification disorders
Gene: TREX1EnsemblGeneIds (GRCh38): ENSG00000213689
EnsemblGeneIds (GRCh37): ENSG00000213689
OMIM: 606609, Gene2Phenotype
TREX1 is in 21 panels
2 reviews
Yanick Crow (University of Manchester)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutières syndrome, isolated chilblains, lupus-like disease, retinal vasculopathy with cerebral leukodystrophy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from amber to green due to expert review. It is a green gene on the Familial cerebral small vessel disease gene panel (version 1.0), Inherited white matter disorders gene panel (version 1.0), and Intellectual disability gene panel (version 1.14). It is a confirmed DD gene for AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE. More than 3 cases/families reported in OMIM for different variants.
Created: 29 Nov 2016, 11:25 a.m.
Mode of inheritance sourced from OMIM.Created: 8 Jan 2016, 10:50 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 1, dominant and recessive
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Other
- UKGTN
- Eligibility statement prior genetic testing
- Phenotypes
-
- Aicardi-Goutieres syndrome 1, dominant and recessive
- Aicardi-Goutières syndrome, isolated chilblains, lupus-like disease, retinal vasculopathy with cerebral leukodystrophy
- OMIM
- 606609
- Clinvar variants
- Variants in TREX1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Intracerebral calcification disorders
- Adult onset leukodystrophy
- Inherited white matter disorders
- COVID-19 research
- Adult onset neurodegenerative disorder
- Retinal disorders
- Likely inborn error of metabolism
- Early onset dystonia
- Juvenile dermatomyositis
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Fetal anomalies
- Familial cerebral small vessel disease
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and internal curation review.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive; Aicardi-Goutières syndrome, isolated chilblains, lupus-like disease, retinal vasculopathy with cerebral leukodystrophy
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TREX1 were set to 25604658
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)TREX1 was added to Intracerebral calcification disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive
Upload gene information
Ellen McDonagh (Genomics England Curator)TREX1 was added to Intracerebral calcification disorderspanel. Sources: Other
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene TREX1 were set to Aicardi-Goutieres Syndrome
Added New Source
Ellen McDonagh (Genomics England Curator)TREX1 was added to Intracerebral calcification disorderspanel. Sources: UKGTN, Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)TREX1 was created by ellenmcdonagh