EIF2B5

eukaryotic translation initiation factor 2B subunit epsilon
OMIM: 603945
PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with vanishing white matter 603896, Ovarioleukodystrophy 603896
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with vanishing white matter, 603896, Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
R-numbers: R58
Signed-off version 2.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
R-numbers: R62
Signed-off version 1.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with vanishing white matter, 603896
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with vanishing white matter, 603896, Ovarioleukodystrophy, 603896, General Leukodystrophy & Mitochondrial Leukoencephalopathy, eIF2B related disorder (Vanishing WM Disease or CACH)