Adult onset neurodegenerative disorder
Gene: TREX1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:22 p.m. | Last Modified: 1 Feb 2023, 12:22 p.m.
Panel Version: 3.49
Comment on classification: Sufficient evidence to promote this gene to Green at the next GMS panel update. >3 unrelated cases including relevant phenotypes and with confirmed cases of adult-onset.
TREX1 has also been associated with relevant phenotypes in both OMIM and G2P.Created: 4 Jan 2023, 10:02 p.m. | Last Modified: 4 Jan 2023, 10:03 p.m.
Panel Version: 3.19
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750; Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315
Review submitted on behalf of David Lynch, James Polke, Henry Houlden, Lucy Jenkins. Mode of inheritance: AD. Phenotype: Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations. Evidence: MIM: 192315Created: 22 Dec 2022, 12:10 p.m. | Last Modified: 22 Dec 2022, 12:10 p.m.
Panel Version: 3.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations
Tag Q1_23_promote_green was removed from gene: TREX1.
Source NHS GMS was added to TREX1. Source Expert Review Green was added to TREX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_23_promote_green tag was added to gene: TREX1.
Phenotypes for gene: TREX1 were changed from Dystonia to Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750; Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315
Mode of inheritance for gene: TREX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: trex1 has been classified as Amber List (Moderate Evidence).
Rebecca Foulger: Gene awaiting curator evaluati
gene: TREX1 was added gene: TREX1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: TREX1 was set to Unknown Phenotypes for gene: TREX1 were set to Dystonia