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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. |
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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 |