Inherited white matter disorders
Gene: EIF2B4Comment 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Numerous variants reported in this phenotypeCreated: 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.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Publications for EIF2B4 were set to 25655951; 11835386; 12707859; 26043506; 25089094
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for EIF2B4 were set to 25655951; 11835386; 12707859
Phenotypes for EIF2B4 were set to Leukoencephaly with vanishing white matter, 603896; Ovarioleukodystrophy, 603896
EIF2B4 was added to Inherited white matter disorderspanel. Sources: Expert list
EIF2B4 was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
EIF2B4 was added to Inherited white matter disorderspanel. Source: Emory Genetics Laboratory
EIF2B4 was created by ellenmcdonagh
EIF2B4 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services