Inherited white matter disorders

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. More than 3 cases reported in OMIM, and multiple different variants. 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, 8:07 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_619

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

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: At least three variants reported in both of the phenotypes
Created: 6 Jul 2016, 2:17 p.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)
Created: 6 Jul 2016, 2:16 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Childhood Ataxia with Central Nervous System Hypomyelination
  • Leukoencephalopathy with vanishing white matter, 603896
  • Ovarioleukodystrophy, 603896
  • eIF2B related disorder (Vanishing WM Disease or CACH)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
OMIM
606454
Clinvar variants
Variants in EIF2B2
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 EIF2B2 were set to 25655951

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).

12 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for EIF2B2 were set to Childhood Ataxia with Central Nervous System Hypomyelination; Leukoencephalopathy with vanishing white matter, 603896; Ovarioleukodystrophy, 603896;eIF2B related disorder (Vanishing WM Disease or CACH);General Leukodystrophy & Mitochondrial Leukoencephalopathy

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 Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for EIF2B2 were set to Childhood Ataxia with Central Nervous System Hypomyelination; Leukoencephalopathy with vanishing white matter, 603896 ; Ovarioleukodystrophy, 603896

5 Apr 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

EIF2B2 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)

EIF2B2 was added to Inherited white matter disorderspanel. Source: Emory Genetics Laboratory

5 Apr 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EIF2B2 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EIF2B2 was created by ellenmcdonagh