Inherited white matter disorders

Gene: EIF2B4

Green List (high evidence)

EIF2B4 (eukaryotic translation initiation factor 2B subunit delta)
EnsemblGeneIds (GRCh38): ENSG00000115211
EnsemblGeneIds (GRCh37): ENSG00000115211
OMIM: 606687, Gene2Phenotype
EIF2B4 is in 10 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. 3 compound heterozygous cases with different variants reported in OMIM, with additional more recent cases reported in the literature (see publications). On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.
Created: 12 Aug 2016, 8:20 a.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_621

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

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Numerous variants reported in this phenotype
Created: 6 Jul 2016, 2:25 p.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)
Created: 6 Jul 2016, 2:24 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Leukoencephaly with vanishing white matter, 603896
  • Ovarioleukodystrophy, 603896
OMIM
606687
Clinvar variants
Variants in EIF2B4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

12 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for EIF2B4 were set to 25655951; 11835386; 12707859; 26043506; 25089094

12 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for EIF2B4 were set to 25655951; 11835386; 12707859

6 Jul 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for EIF2B4 were set to Leukoencephaly with vanishing white matter, 603896; Ovarioleukodystrophy, 603896

6 Jul 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

EIF2B4 was added to Inherited white matter disorderspanel. Sources: Expert list

5 Apr 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

EIF2B4 was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen

5 Apr 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

EIF2B4 was added to Inherited white matter disorderspanel. Source: Emory Genetics Laboratory

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EIF2B4 was created by ellenmcdonagh

5 Apr 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EIF2B4 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services