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Genetic epilepsy syndromes

Gene: EIF2B2

Green List (high evidence)

EIF2B2 (eukaryotic translation initiation factor 2B subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000119718
EnsemblGeneIds (GRCh37): ENSG00000119718
OMIM: 606454, Gene2Phenotype
EIF2B2 is in 12 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR ovarioleukodystrophy and Leukoencephalopathy with vanishing white matter (VWM). Can also be caused by mutations in any of the 5 genes encoding subunits of the translation initiation factor EIF2B (EIF2B1,2,3,4 or 5). It is a neurologic disorder characterised by variable neurological features including progressive cerebellar ataxia, spasticity and cognitive impairement assoc with white matter lesions on brain imaging. Onset from early infancy to adulthood. Episodes of deterioration followed infections and minor head traumas. Shimada et al 2012 - 11 month old also had intractable epilepsy triggered by infections - submicroscopic del of 14q24.3 - 25 genes in this region including EIF2B2 including a missense change in this gene. Shimada et al, 2015 - variants in 6 patients (4 unrelated individ and 2 siblings) in EIF2B genes: 5/6 had seizures - 4 families of these 2 unrelated individuals one hom and one compound het for EIF2B2 missense variants. 1 aff was hom for an EIF2B1 variant. 1 aff was compound het for an EIF2B5 mutation and the two sibs were compound het for EIF2B4 mutations - 1 had epilepsy, 1 didn't.
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
Leukoencephalopathy with vanishing white matter, 603896; Ovarioleukodystrophy, 603896

Publications

Rebecca Foulger (Genomics England curator)

I don't know

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: 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.
Created: 27 Nov 2018, 8:34 p.m.
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).
Created: 27 Nov 2018, 8:32 p.m.
Shimada et al. (2015, PMID:25843247) analysed genes encoding all five subunits of EIF2B in 22 patients tentatively diagnosed with Vanishing White Matter Disease (VWM). Unrelated patients 2 and 3 had variants in EIF2B2; homozygous c.254T>A (p.V85E) in patient 2, and c.254T>A (p.V85E) and c.682A>G (p.R228G) in compound heterozygosity in patient 3. Both patients had seizures amongst their phenotypes.
Created: 27 Nov 2018, 8:31 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are a feature of this leukodystrophy.
Created: 13 Aug 2018, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with vanishing white matter, MIM#603896

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to EIF2B2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to EIF2B2.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are a feature of this

27 Nov 2018, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: EIF2B2 were set to

27 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: eif2b2 has been classified as Green List (High Evidence).

27 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: eif2b2 has been classified as Green List (High Evidence).

27 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: EIF2B2 was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: EIF2B2 were changed from to Leukoencephalopathy with vanishing white matter, 603896

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to EIF2B2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

EIF2B2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

EIF2B2 was created by Sarah Leigh