Inherited white matter disorders

Gene: TREX1

Green List (high evidence)

TREX1 (three prime repair exonuclease 1)
EnsemblGeneIds (GRCh38): ENSG00000213689
EnsemblGeneIds (GRCh37): ENSG00000213689
OMIM: 606609, Gene2Phenotype
TREX1 is in 19 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment 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.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_611

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

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 monogenic
Created: 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.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive 225750
  • Vasculopathy, retinal, with cerebral leukodystrophy 192315
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
OMIM
606609
Clinvar variants
Variants in TREX1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

12 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TREX1 were set to 25655951; 27411419

12 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive 225750; Vasculopathy, retinal, with cerebral leukodystrophy 192315; General Leukodystrophy & Mitochondrial Leukoencephalopathy

12 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive 225750; Vasculopathy, retinal, with cerebral leukodystrophy 192315

6 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for TREX1 were set to 25655951

6 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for TREX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for TREX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

TREX1 was added to Inherited white matter disorderspanel. Sources: UKGTN,Expert list

19 May 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

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

19 May 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TREX1 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen

19 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TREX1 was created by ellenmcdonagh