Inherited white matter disorders
Gene: EIF2B2Comment 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.
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: 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.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Publications for EIF2B2 were set to 25655951
This gene has been classified as Green List (High Evidence).
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
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for EIF2B2 were set to Childhood Ataxia with Central Nervous System Hypomyelination; Leukoencephalopathy with vanishing white matter, 603896 ; Ovarioleukodystrophy, 603896
EIF2B2 was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
EIF2B2 was added to Inherited white matter disorderspanel. Source: Emory Genetics Laboratory
EIF2B2 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
EIF2B2 was created by ellenmcdonagh