Genetic epilepsy syndromes
Gene: RNASEH2B
A further 37 patients (11.4%) (13 TREX1, one RNASEH2A, nine RNASEH2B, seven RNASEH2C, six SAMHD1, one ADAR) demonstrated neurological features at birth in the absence of obvious systemic features. (PMID:25604658). AR Aicardi Goutieres syndrome 2. row et al 2006 - 18 unrelated families with AGS2 had hom/compund her mutations. Most families European or North African. Crow et al 2014 - 2 Egyptian sibs and an unrelated patient of N African descent hom variant. No mention on OMIM of seizures in these patients - Crow 2015 paper mentions seizures in a number of patients - but don't know if specific gene or across all the AGS genes mentioned in the paper. Mutairi et al, 2018 - 3 diff hom variants in this gene in 13 patients 8/13 had seizures. Approx 42 variants listed on HGMD Pro - missense, nonesense, splicing, small del/ins - mostly assoc with AGS. If seizures is a common phentoype of AGS.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome, 610181
Publications
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.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
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.Created: 8 Nov 2018, 8:59 a.m.
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.Created: 8 Nov 2018, 8:56 a.m.
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.Created: 8 Nov 2018, 8:56 a.m.
PMID:29239743 (Mutairi et al., 2018) reviewed the records of 24 unrelated Arab patients with Aicardi-Goutieres syndrome. The most common presenting signs were developmental delay and seizures. 3 different homozygous variants were identified in RNASEH2B in 13 patients; The c.356A>G variant seen in 10 cases is listed as Likely Pathogenic. The c.529G>A and c.554T>G variants in the remaining 3 cases are listed as Pathogenic. 8 of the 13 patients had seizures including 1 patient with the pathogenic c.554T>G variant.Created: 8 Nov 2018, 8:56 a.m.
Comment on phenotypes: Added Phenotypes suggested by external expert reviwerCreated: 4 Oct 2018, 12:56 p.m.
Seizures are part of the phenotype of this neurological disorder.Created: 20 Aug 2018, 10:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 2, MIM#610181
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to RNASEH2B.
Source NHS GMS was added to RNASEH2B.
Zornitza Stark: Seizures are part of the pheno
Gene: rnaseh2b has been classified as Green List (High Evidence).
Gene: rnaseh2b has been classified as Green List (High Evidence).
Mode of inheritance for gene: RNASEH2B was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2B were set to
Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, MIM#610181 to Aicardi-Goutieres syndrome 2, 610181
Phenotypes for gene: RNASEH2B were changed from to Aicardi-Goutieres syndrome 2, MIM#610181
Expert Review Amber was added to RNASEH2B. Panel: Genetic Epilepsy Syndromes
RNASEH2B was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
RNASEH2B was created by Sarah Leigh