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Early onset or syndromic epilepsy v1.191 RNASEH2C Rebecca Foulger Source Wessex and West Midlands GLH was added to RNASEH2C.
Early onset or syndromic epilepsy v1.190 RNASEH2C Rebecca Foulger Source NHS GMS was added to RNASEH2C.
Early onset or syndromic epilepsy v1.189 RNASEH2C Rebecca Foulger edited their review of gene: RNASEH2C: 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 RNASEH2C Tracy Lester reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 25604658; Phenotypes: Aicardi-Goutieres syndrome, 610329; Mode of inheritance: 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 v0.614 RNASEH2C Rebecca Foulger Marked gene: RNASEH2C as ready
Early onset or syndromic epilepsy v0.614 RNASEH2C Rebecca Foulger Gene: rnaseh2c has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.614 RNASEH2C Rebecca Foulger Classified gene: RNASEH2C as Green List (high evidence)
Early onset or syndromic epilepsy v0.614 RNASEH2C Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P gene for Aicardi-Goutieres syndrome 3, which can present with seizures. Most AGS patients carry the c.205C>T variant, which has been characterized as Founder effect in Pakistani patients (PMID:29150899). Additional variants are observed in single families (PMID:25604658 and PMID:20131292). Although it's unclear in some papers whether the AGS patients specifically with RNASEH2C variants displayed seizures, RNASEH2C variants are a known cause of AGS, and seizures are a common feature of AGS; therefore it is reasonable to include RNASEH2C on the Genetic Epilepsy panel.
Early onset or syndromic epilepsy v0.614 RNASEH2C Rebecca Foulger Gene: rnaseh2c has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.613 RNASEH2C Rebecca Foulger Publications for gene: RNASEH2C were set to
Early onset or syndromic epilepsy v0.612 RNASEH2C Rebecca Foulger Mode of inheritance for gene: RNASEH2C was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.611 RNASEH2C Rebecca Foulger commented on gene: RNASEH2C
Early onset or syndromic epilepsy v0.611 RNASEH2C Rebecca Foulger Phenotypes for gene: RNASEH2C were changed from to Aicardi-Goutieres syndrome 3, 610329
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 v0.544 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 RNASEH2C Zornitza Stark reviewed gene: RNASEH2C
Early onset or syndromic epilepsy RNASEH2C Sarah Leigh Added gene to panel