Rebecca Foulger edited their review of gene: EIF2B4: 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
Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza, and sufficient cases of epilepsy in Vanishing White Matter (VWM) patients with EIF2B4 variants from the literature (3 cases in PMIDs 25843247, 26043506 and 29331873) for inclusion on the panel.
Rebecca Foulger commented on gene: EIF2B4: Herrera-GarcĂa et al, 2018 (PMID:29331873) describe a 41-year-old woman and her 37-year-old sister who developed epilepsy in association with premature ovarian failure at the age of 13 and 18 respectively. In both patients they found the c.1117C>T (p.Arg373Cys) homozygous variant in EIF2B4.
Rebecca Foulger commented on gene: EIF2B4: Gungor et al (PMID:26043506) report a 12-month old boy presented with intractable seizures present since 3-months of age. A homozygous c.1091G>A variant was detected in the EIF2B4 gene.