Inherited white matter disorders
Gene: EIF2B5EnsemblGeneIds (GRCh38): ENSG00000145191
EnsemblGeneIds (GRCh37): ENSG00000145191
OMIM: 603945, Gene2Phenotype
EIF2B5 is in 12 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. Multiple cases/families with different variants reported in OMIM. 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, 8:23 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_622
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 phenotypeCreated: 6 Jul 2016, 2:30 p.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)Created: 6 Jul 2016, 2:28 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
-
- Leukoencephalopathy with vanishing white matter, 603896
- Ovarioleukodystrophy, 603896
- eIF2B related disorder (Vanishing WM Disease or CACH)
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- OMIM
- 603945
- Clinvar variants
- Variants in EIF2B5
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- DDG2P
- Primary ovarian insufficiency
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
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 Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for EIF2B5 were set to 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
Ellen McDonagh (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 publications
Sarah Leigh (Genomics England Curator)Publications for EIF2B5 were set to 25655951; 11704758; 12325082
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 EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896 ; Ovarioleukodystrophy, 603896
Upload gene information
Sarah Leigh (Genomics England Curator)EIF2B5 was added to Inherited white matter disorderspanel. Sources: Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)EIF2B5 was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)EIF2B5 was added to Inherited white matter disorderspanel. Source: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)EIF2B5 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)EIF2B5 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services