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Genetic epilepsy syndromes

Gene: EIF2B1

Green List (high evidence)

EIF2B1 (eukaryotic translation initiation factor 2B subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000111361
EnsemblGeneIds (GRCh37): ENSG00000111361
OMIM: 606686, Gene2Phenotype
EIF2B1 is in 9 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Vanishing white matter disorder can be associated with seizures.
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

Publications

Rebecca Foulger (Genomics England curator)

I don't know

As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green. Epilepsy is a feature of Vanishing White Matter Disorder, and therefore should include on the panel for early diagnosis in children. Promoted from Amber to Green.
Created: 13 Aug 2019, 4:17 p.m. | Last Modified: 15 Aug 2019, 8:05 a.m.
Panel Version: 1.222
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: Alison Callaway and John Taylor. 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: Kept rating as Amber after discussion in Genomics England Curation team. Although other EIF2B subunits are also associated with Vanishing white matter (VWM) and rated Green on the panel, there are currently insufficient clinical/literature cases of patients with EIF2B1 and seizures (2 patients in PMIDs 25761052 and 25843247). Therefore added 'watchlist' tag while awaiting further cases.
Created: 3 Dec 2018, 11:50 a.m.
In a 2-year-old Chinese girl (case 29) with MIM:603896, Zhang et al. (2015, PMID:25761052) identified a homozygous c(c.328A-G, NM_001414) in exon 4 of the EIF2B1 gene (KL110E). The patient had seizures.
Created: 26 Nov 2018, 11:46 a.m.
In a 61-year-old Japanese woman (Patient 1), born of consanguineous parents, with leukoencephalopathy with vanishing white matter (MIM:603896), Shimada et al. (2015, PMID:25843247) identified a homozygous c.715T-G transversion in exon 8 of the EIF2B1 gene (p.F239V). Symptoms included seizures.
Created: 26 Nov 2018, 11:46 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are a feature of this leukodystrophy
Created: 13 Aug 2018, 11:32 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
watchlist
OMIM
606686
Clinvar variants
Variants in EIF2B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: eif2b1 has been classified as Green List (High Evidence).

13 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: eif2b1 has been classified as Green List (High Evidence).

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to EIF2B1.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to EIF2B1.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are a feature of this

3 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: eif2b1 has been classified as Amber List (Moderate Evidence).

3 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: eif2b1 has been classified as Amber List (Moderate Evidence).

3 Dec 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: EIF2B1.

26 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: EIF2B1 were set to

26 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: EIF2B1 was changed from to BIALLELIC, autosomal or pseudoautosomal

26 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: EIF2B1 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 EIF2B1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

EIF2B1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

EIF2B1 was created by Sarah Leigh