GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
Gene: TREX1EnsemblGeneIds (GRCh38): ENSG00000213689
EnsemblGeneIds (GRCh37): ENSG00000213689
OMIM: 606609, Gene2Phenotype
TREX1 is in 21 panels
1 review
Emily Jones (North Bristol NHS Trust)
Literature review in PMID 25582466 suggests 75% of patients with Aicardi-Goutieres Syndrome have dystonia. May be appropriate to include following clinical input.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- South West GLH
- Phenotypes
-
- Vasculopathy, retinal, with cerebral leukodystrophy, 192315
- Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
- OMIM
- 606609
- Clinvar variants
- Variants in TREX1
- Penetrance
- None
- Panels with this gene
-
- Intracerebral calcification disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset leukodystrophy
- DDG2P
- COVID-19 research
- Undiagnosed metabolic disorders
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Retinal disorders
- Early onset or syndromic epilepsy
- Early onset dystonia
- Juvenile dermatomyositis
- Childhood onset dystonia, chorea or related movement disorder
- Familial cerebral small vessel disease
- Likely inborn error of metabolism
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Adult onset dystonia, chorea or related movement disorder
- Rare genetic inflammatory skin disorders
History Filter Activity
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene TREX1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Added phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 for gene: TREX1
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to TREX1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: TREX1 was added gene: TREX1 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: TREX1 was set to