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Genetic epilepsy syndromes

Gene: EIF2B5

Green List (high evidence)

EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon)
EnsemblGeneIds (GRCh38): ENSG00000145191
EnsemblGeneIds (GRCh37): ENSG00000145191
OMIM: 603945, Gene2Phenotype
EIF2B5 is in 12 panels

3 reviews

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

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. Labuage et al, 2009 - review of 16 patients - 7 had epilepsy (mostly generalised) in 2 affected the provoking factor was named as seizures. 15 patients from 13 unrelated families had mutations in EIF2B5 and one in EIF2B2. 71% had the recurrent R113H variant (9 families hom, 1 family - compound het with a diff missense variant). 3 remaining families all compund het for missense or nonsense variants. Zhang et al, 2015 - 34/36 clinically diagnosed children had a variant identified in the EIF2B genes 12 had EIF2B5 mutations. 16/32 had experienced seizures usually occured 1-2 years after disease onset. Lots of reported variants for this disorder reported and epilepsy seems to arise in ~50% of cases. 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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are a feature of this leukodystrophy.
Created: 13 Aug 2018, 11:37 a.m.

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 EIF2B5.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to EIF2B5.

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: EIF2B5 were set to 17646634; 21484434; 15136690; 29995139; 18266750

26 Nov 2018, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: EIF2B5 were set to 17646634; 21484434; 15136690; 29995139

26 Nov 2018, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: EIF2B5 were set to 17646634; 21484434; 15136690

17 Jul 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: EIF2B5 were set to 17646634; 21484434; 15136690

17 Jul 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter 603896; Ovarioleukodystrophy 603896

17 Jul 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: EIF2B5 was changed from to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: eif2b5 has been classified as Green List (High Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to EIF2B5. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

EIF2B5 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

EIF2B5 was created by Sarah Leigh