Activity

Filter

Cancel
Date Panel Item Activity
19 actions
Early onset or syndromic epilepsy v1.191 RNASEH2A Rebecca Foulger Source Wessex and West Midlands GLH was added to RNASEH2A.
Early onset or syndromic epilepsy v1.190 RNASEH2A Rebecca Foulger Source NHS GMS was added to RNASEH2A.
Early onset or syndromic epilepsy v1.189 RNASEH2A Rebecca Foulger edited their review of gene: RNASEH2A: 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 RNASEH2A Tracy Lester reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25604658; Phenotypes: Aicardi-Goutieres syndrome, 610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.655 RNASEH2A Rebecca Foulger Marked gene: RNASEH2A as ready
Early onset or syndromic epilepsy v0.655 RNASEH2A Rebecca Foulger Gene: rnaseh2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.655 RNASEH2A Rebecca Foulger Classified gene: RNASEH2A as Green List (high evidence)
Early onset or syndromic epilepsy v0.655 RNASEH2A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Green Review plus Confirmed DD-G2P gene for Aicardi-Goutieres syndrome 4, which can present with seizures. Seizures is a common (at least 50%) feature of patients with AGS. Although it's hard to trace in papers whether the AGS patients specifically with RNASEH2A variants displayed seizures, RNASEH2A variants are a known cause of AGS, and seizures are a common feature of AGS; therefore it is reasonable to include RNASEH2A on the Genetic Epilepsy panel.
Early onset or syndromic epilepsy v0.655 RNASEH2A Rebecca Foulger Gene: rnaseh2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.654 RNASEH2A Rebecca Foulger Publications for gene: RNASEH2A were set to
Early onset or syndromic epilepsy v0.653 RNASEH2A Rebecca Foulger Mode of inheritance for gene: RNASEH2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.652 RNASEH2A Rebecca Foulger commented on gene: RNASEH2A: Crow et al., 2015 (PMID:25604658) report data for 374 mutation-positive patients from 299 families encompassing all seven known AGS-related genes. 140 of 362 patients had seizures. Biallelic RNASEH2A variants were reported in 14 families.
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 v0.652 RNASEH2A Rebecca Foulger commented on gene: RNASEH2A
Early onset or syndromic epilepsy v0.652 RNASEH2A Rebecca Foulger Phenotypes for gene: RNASEH2A were changed from to Aicardi-Goutieres syndrome 4, 610333
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 RNASEH2A Zornitza Stark reviewed gene: RNASEH2A
Early onset or syndromic epilepsy RNASEH2A Sarah Leigh Added gene to panel