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Early onset or syndromic epilepsy v2.477 RNASEH2B Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, 610181 to Aicardi-Goutieres syndrome 2, OMIM:610181
Early onset or syndromic epilepsy v1.191 RNASEH2B Rebecca Foulger Source Wessex and West Midlands GLH was added to RNASEH2B.
Early onset or syndromic epilepsy v1.190 RNASEH2B Rebecca Foulger Source NHS GMS was added to RNASEH2B.
Early onset or syndromic epilepsy v1.189 RNASEH2B Rebecca Foulger edited their review of gene: RNASEH2B: 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 RNASEH2B Tracy Lester reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 25604658; Phenotypes: Aicardi-Goutieres syndrome, 610181; 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 v0.610 RNASEH2B Rebecca Foulger Marked gene: RNASEH2B as ready
Early onset or syndromic epilepsy v0.610 RNASEH2B Rebecca Foulger Gene: rnaseh2b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.610 RNASEH2B Rebecca Foulger Classified gene: RNASEH2B as Green List (high evidence)
Early onset or syndromic epilepsy v0.610 RNASEH2B Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P gene for Aicardi-Goutieres syndrome 2 (MIM:610181), which can present with seizures. Sufficient cases of seizures (>3) from PMIDs29239743, 17846997 and 28332073 for inclusion on panel.
Early onset or syndromic epilepsy v0.610 RNASEH2B Rebecca Foulger Gene: rnaseh2b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.609 RNASEH2B Rebecca Foulger Mode of inheritance for gene: RNASEH2B was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.608 RNASEH2B Rebecca Foulger Publications for gene: RNASEH2B were set to
Early onset or syndromic epilepsy v0.607 RNASEH2B Rebecca Foulger commented on gene: RNASEH2B: Abdel-Salam, 2017 (PMID:28332073) report two siblings with AGS, both with seizures among their phenotypes. They
identified a previously known homozygous missense variant in exon 7 of the RNASEH2B gene, c.554T>G (p.V185G), and both parents were heterozygous for the variant.
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 v0.607 RNASEH2B Rebecca Foulger commented on gene: RNASEH2B
Early onset or syndromic epilepsy v0.607 RNASEH2B Rebecca Foulger Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, MIM#610181 to Aicardi-Goutieres syndrome 2, 610181
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 v0.503 RNASEH2B Louise Daugherty Added comment: Comment on phenotypes: Added Phenotypes suggested by external expert reviwer
Early onset or syndromic epilepsy v0.503 RNASEH2B Louise Daugherty Phenotypes for gene: RNASEH2B were changed from to Aicardi-Goutieres syndrome 2, MIM#610181
Early onset or syndromic epilepsy RNASEH2B Zornitza Stark reviewed gene: RNASEH2B
Early onset or syndromic epilepsy RNASEH2B Sarah Leigh Added gene to panel