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Early onset or syndromic epilepsy v1.191 TREX1 Rebecca Foulger Source Wessex and West Midlands GLH was added to TREX1.
Early onset or syndromic epilepsy v1.190 TREX1 Rebecca Foulger Source NHS GMS was added to TREX1.
Early onset or syndromic epilepsy v1.189 TREX1 Rebecca Foulger edited their review of gene: TREX1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 TREX1 Tracy Lester reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20876473; Phenotypes: Aicardi-Goutieres syndrome 1 dominant and recessive, 225750, Chilblain lupus, 610448, Vasculopathy retinal with cerebral leukodystrophy, 192315; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.652 RNASEH2A Rebecca Foulger commented on gene: RNASEH2A: Rice et al 2007 (PMID:17846997) collected clinical data for 123 individuals from 94 families with variants in TREX1, RNASEH2A, RNASEH2B, or RNASEH2C. Seizures were reported in 53% of patients. 4 children from 3 families had biallelic variants in RNASEH2A. 1 individual with RNASEH2A variant who was affected at birth experienced neonatal seizures (Table 2).
Early onset or syndromic epilepsy v0.607 RNASEH2B Rebecca Foulger commented on gene: RNASEH2B: Rice et al 2007 (PMID:17846997) collected clinical data for 123 individuals from 94 families with variants in TREX1, RNASEH2A, RNASEH2B, or RNASEH2C. Seizures were reported in 53% of patients. 47 families harboured a RNASEH2B variant.
Early onset or syndromic epilepsy v0.606 TREX1 Rebecca Foulger Marked gene: TREX1 as ready
Early onset or syndromic epilepsy v0.606 TREX1 Rebecca Foulger Gene: trex1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.606 TREX1 Rebecca Foulger Classified gene: TREX1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.606 TREX1 Rebecca Foulger Added comment: 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.
Early onset or syndromic epilepsy v0.606 TREX1 Rebecca Foulger Gene: trex1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.605 TREX1 Rebecca Foulger Publications for gene: TREX1 were set to 29239743; 15883328; 17846997; 17357087
Early onset or syndromic epilepsy v0.604 TREX1 Rebecca Foulger Added comment: 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).
Early onset or syndromic epilepsy v0.604 TREX1 Rebecca Foulger 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
Early onset or syndromic epilepsy v0.603 TREX1 Rebecca Foulger 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
Early onset or syndromic epilepsy v0.545 TREX1 Rebecca Foulger Publications for gene: TREX1 were set to 29239743; 15883328
Early onset or syndromic epilepsy v0.545 TREX1 Rebecca Foulger Publications for gene: TREX1 were set to 29239743; 15883328
Early onset or syndromic epilepsy v0.544 TREX1 Rebecca Foulger commented on gene: TREX1: 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 experienced neonatal seizures (Table 2).
Early onset or syndromic epilepsy v0.540 TREX1 Rebecca Foulger commented on gene: TREX1: 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.
Early onset or syndromic epilepsy v0.540 TREX1 Rebecca Foulger Publications for gene: TREX1 were set to
Early onset or syndromic epilepsy v0.539 TREX1 Rebecca Foulger Added comment: Comment on mode of inheritance: AR and AD mode of inheritance supported by OMIM.
Early onset or syndromic epilepsy v0.539 TREX1 Rebecca Foulger 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
Early onset or syndromic epilepsy v0.538 TREX1 Rebecca Foulger 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
Early onset or syndromic epilepsy v0.537 TREX1 Rebecca Foulger Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
Early onset or syndromic epilepsy TREX1 Zornitza Stark reviewed gene: TREX1
Early onset or syndromic epilepsy TREX1 Sarah Leigh Added gene to panel