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Early onset or syndromic epilepsy v1.191 EIF2B2 Rebecca Foulger Source Wessex and West Midlands GLH was added to EIF2B2.
Early onset or syndromic epilepsy v1.190 EIF2B2 Rebecca Foulger Source NHS GMS was added to EIF2B2.
Early onset or syndromic epilepsy v1.189 EIF2B2 Rebecca Foulger edited their review of gene: EIF2B2: 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 EIF2B2 Tracy Lester reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22678813, 24891910; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896, Ovarioleukodystrophy, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1197 EIF2B2 Rebecca Foulger Publications for gene: EIF2B2 were set to
Early onset or syndromic epilepsy v0.1194 EIF2B2 Rebecca Foulger Marked gene: EIF2B2 as ready
Early onset or syndromic epilepsy v0.1194 EIF2B2 Rebecca Foulger Gene: eif2b2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1194 EIF2B2 Rebecca Foulger Classified gene: EIF2B2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1194 EIF2B2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review from Zornitza. Seizures are seen in some patients with Vanishing White Matter Disease (VWM). Sufficient cases of seizures in patients from the literature (2 in PMID:25843247 and 1 in PMID:22678813) for inclusion on the panel.
Early onset or syndromic epilepsy v0.1194 EIF2B2 Rebecca Foulger Gene: eif2b2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1193 EIF2B2 Rebecca Foulger commented on gene: EIF2B2: Shimada et al, 2012 (PMID:22678813) report an 11-month-old patient with intractable epilepsy amongst her symptoms. A Submicroscopic deletion at 14q24.3 that included EIF2B2 was found in compound heterozygous state for a missense variant in EIF2B2 (V85W). The p.V85E variant may be common in individuals of E. Asian origin (Chinese and Japanese).
Early onset or syndromic epilepsy v0.1193 EIF2B2 Rebecca Foulger commented on gene: EIF2B2
Early onset or syndromic epilepsy v0.1193 EIF2B2 Rebecca Foulger Mode of inheritance for gene: EIF2B2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1192 EIF2B2 Rebecca Foulger Phenotypes for gene: EIF2B2 were changed from to Leukoencephalopathy with vanishing white matter, 603896
Early onset or syndromic epilepsy EIF2B2 Zornitza Stark reviewed gene: EIF2B2
Early onset or syndromic epilepsy EIF2B2 Sarah Leigh Added gene to panel