This Panel is marked as Internal
Newborns additional phenotypes panel 1
Gene: TREX1
TREX1 (three prime repair exonuclease 1)
EnsemblGeneIds (GRCh38): ENSG00000213689
EnsemblGeneIds (GRCh37): ENSG00000213689
OMIM: 606609, Gene2Phenotype
TREX1 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000213689
EnsemblGeneIds (GRCh37): ENSG00000213689
OMIM: 606609, Gene2Phenotype
TREX1 is in 21 panels
1 review
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is loss-of-function (LOF).Created: 7 Jul 2023, 9:30 a.m. | Last Modified: 7 Jul 2023, 9:30 a.m.
Panel Version: 0.31
PMID: 16845398 - 10 families recessive PMID: 36895907 - 1 large family dominant PMID: 17660820 - 9 families dominantCreated: 7 Jul 2023, 9:30 a.m. | Last Modified: 7 Jul 2023, 9:30 a.m.
Panel Version: 0.31
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Aicardi-Goutieres syndrome 1, autosomal dominant
- OMIM
- 606609
- Clinvar variants
- Variants in TREX1
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intracerebral calcification disorders
- Intellectual disability
- COVID-19 research
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Inherited white matter disorders
- Adult onset leukodystrophy
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Early onset dystonia
- Juvenile dermatomyositis
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Familial cerebral small vessel disease
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- Fetal anomalies
- Rare genetic inflammatory skin disorders
History Filter Activity
6 Feb 2024, Gel status: 2
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1 to Aicardi-Goutieres syndrome 1, autosomal dominant
4 Oct 2023, Gel status: 2
Added New Source, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Amber was added to TREX1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
14 Sep 2023, Gel status: 3
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Aicardi-Goutieres syndrome 1 for gene: TREX1
5 Jul 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Mafalda Gomes (Genomics England Curator)gene: TREX1 was added gene: TREX1 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: TREX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1