Inherited white matter disorders
Gene: TREX1Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.Created: 12 Aug 2016, 7:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 6 Jul 2016, 1:52 p.m.
Comment on mode of inheritance: Aicardi-Goutieres syndrome 1, 225750 is dominant and recessive, the remaining phenotypes associated with gene are all monogenicCreated: 6 Jul 2016, 1:50 p.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)Created: 6 Jul 2016, 1:40 p.m.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Publications for TREX1 were set to 25655951; 27411419
Phenotypes for TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive 225750; Vasculopathy, retinal, with cerebral leukodystrophy 192315; General Leukodystrophy & Mitochondrial Leukoencephalopathy
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive 225750; Vasculopathy, retinal, with cerebral leukodystrophy 192315
Publications for TREX1 were set to 25655951
Mode of inheritance for TREX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for TREX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
TREX1 was added to Inherited white matter disorderspanel. Sources: UKGTN,Expert list
TREX1 was added to Inherited white matter disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene TREX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TREX1 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen
TREX1 was created by ellenmcdonagh