White matter disorders and cerebral calcification - childhood onset
Gene: TREX1EnsemblGeneIds (GRCh38): ENSG00000213689
EnsemblGeneIds (GRCh37): ENSG00000213689
OMIM: 606609, Gene2Phenotype
TREX1 is in 21 panels
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Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Aicardi-Goutieres syndrome 1, dominant and recessive 225750
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Aicardi-Gouti res syndrome, isolated chilblains, lupus-like disease, retinal vasculopathy with cerebral leukodystrophy
- Aicardi-Goutieres syndrome 1, dominant and recessive
- Vasculopathy, retinal, with cerebral leukodystrophy 192315
- OMIM
- 606609
- Clinvar variants
- Variants in TREX1
- Penetrance
- None
- Publications
- Panels with this gene
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- Rare genetic inflammatory skin disorders
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
- Intracerebral calcification disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Paediatric or syndromic cardiomyopathy
- Retinal disorders
- Dystonia, chorea or related movement disorder, adult onset
- Leukodystrophy, adult onset
- COVID-19 research
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Juvenile dermatomyositis
- Fetal anomalies
- Early onset or syndromic epilepsy
- DDG2P
- Familial cerebral small vessel disease
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive 225750; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Vasculopathy, retinal, with cerebral leukodystrophy 192315 for gene: TREX1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TREX1 was added gene: TREX1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TREX1 were set to 25604658 Phenotypes for gene: TREX1 were set to Aicardi-Gouti res syndrome, isolated chilblains, lupus-like disease, retinal vasculopathy with cerebral leukodystrophy; Aicardi-Goutieres syndrome 1, dominant and recessive