Inherited white matter disorders
Gene: EIF2B2EnsemblGeneIds (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)
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 phenotypesCreated: 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
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- Primary ovarian insufficiency
- Hereditary ataxia
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
History Filter Activity
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.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for EIF2B2 were set to 25655951
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Added New Source
Ellen McDonagh (Genomics England Curator)EIF2B2 was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)EIF2B2 was added to Inherited white matter disorderspanel. Source: Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)EIF2B2 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Created
Ellen McDonagh (Genomics England Curator)EIF2B2 was created by ellenmcdonagh