Inherited white matter disorders
Gene: EIF2B5Comment 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.
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, 2:30 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.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
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
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for EIF2B5 were set to 25655951; 11704758; 12325082
This gene has been classified as Green List (High Evidence).
Phenotypes for EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896 ; Ovarioleukodystrophy, 603896
EIF2B5 was added to Inherited white matter disorderspanel. Sources: Expert list
EIF2B5 was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
EIF2B5 was added to Inherited white matter disorderspanel. Source: Emory Genetics Laboratory
EIF2B5 was created by ellenmcdonagh
EIF2B5 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services