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Genetic epilepsy syndromes

Gene: TREX1

Green List (high evidence)

TREX1 (three prime repair exonuclease 1)
EnsemblGeneIds (GRCh38): ENSG00000213689
EnsemblGeneIds (GRCh37): ENSG00000213689
OMIM: 606609, Gene2Phenotype
TREX1 is in 22 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD & AR Aicardi-Goutieres syndrome - genetically heterogeneous encephalopathy. The most severe neonatal form is typically due to TREX1 gene mutation. Seizures have been noted as a feature of this disease in individuals with TREX1 variants.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 1 dominant and recessive, 225750; Chilblain lupus, 610448; Vasculopathy retinal with cerebral leukodystrophy, 192315

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P gene for Aicardi-Goutières syndrome, which can present with seizures. Seizures also reported for SLE and RVCL patients (PMID:18583934). Sufficient (>3) cases of patients with seizures from PMID:29239743 and PMID:17846997 for inclusion on panel.
Created: 8 Nov 2018, 8:54 a.m.
Comment on phenotypes: PMID:18583934 (Kavanagh et al 2008) include seizures in the clinical phenotype of Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL), Systemic Lupus Erythematosus (SLE) and Aicardi-Goutières Syndrome (AGS) (Table 2).
Created: 8 Nov 2018, 8:52 a.m.
Rice et al 2007 (PMID:17846997) collected clinical data for 123 individuals from 94 families with variants in TREX1, RNASEH2A, RNASEH2B, or RNASEH2C. Five individuals with TREX1 biallelic variants who presented at birth experienced neonatal seizures (Table 2).
Created: 5 Nov 2018, 10:57 a.m.
PMID:29239743 reviewed the records of 24 unrelated patients with Aicardi-Goutières syndrome from 6 tertiary hospitals in different Arab countries. The most common presenting signs were developmental delay and seizures. 1 patient (patient 23) had a biallelic variant in TREX1 (c.341G>A) and presented with seizures. The patient presented in utero.
Created: 3 Nov 2018, 11:44 a.m.
Comment on mode of inheritance: AR and AD mode of inheritance supported by OMIM: Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL) has Autosomal Dominant inheritance. AGS has Autosomal Recessive or Autosomal Dominant inheritance for TREX1.
Created: 3 Nov 2018, 11:37 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype.
Created: 22 Aug 2018, 6:47 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 1, dominant and recessive, MIM#225750

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

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to TREX1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to TREX1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

8 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: trex1 has been classified as Green List (High Evidence).

8 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: trex1 has been classified as Green List (High Evidence).

8 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TREX1 were set to 29239743; 15883328; 17846997; 17357087

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; seizures; Vasculopathy, retinal, with cerebral leukodystrophy, 192315; {Systemic lupus erythematosus, susceptibility to}, 152700 to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; seizures; Vasculopathy, retinal, with cerebral leukodystrophy, 192315; {Systemic lupus erythematosus, susceptibility to}, 152700

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; seizures to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; seizures; Vasculopathy, retinal, with cerebral leukodystrophy, 192315; {Systemic lupus erythematosus, susceptibility to}, 152700

5 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TREX1 were set to 29239743; 15883328

5 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TREX1 were set to 29239743; 15883328

3 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TREX1 were set to

3 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (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

3 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; seizures

3 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to TREX1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TREX1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

TREX1 was created by Sarah Leigh