Inherited white matter disorders
Gene: EIF2B3Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. Multiple cases 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, 8:09 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 phenotype.Created: 6 Jul 2016, 2:20 p.m.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Phenotypes for EIF2B3 were set to Leukoencephalopathy with vanishing white matter 603896;eIF2B related disorder (Vanishing WM Disease or CACH);General Leukodystrophy & Mitochondrial Leukoencephalopathy
This gene has been classified as Green List (High Evidence).
Publications for EIF2B3 were set to 25655951; 11835386; 19158808
Phenotypes for EIF2B3 were set to Leukoencephalopathy with vanishing white matter 603896
EIF2B3 was added to Inherited white matter disorderspanel. Sources: Expert list
EIF2B3 was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
EIF2B3 was added to Inherited white matter disorderspanel. Source: Emory Genetics Laboratory
EIF2B3 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
EIF2B3 was created by ellenmcdonagh