Genomics England
GMS Panels
Panels
Genes and Entities

EIF2B4

eukaryotic translation initiation factor 2B subunit delta
OMIM: 606687
PanelMode of inheritanceDetails
6 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
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
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with vanishing white matter, 603896
Green
in Hereditary ataxia - adult onset
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
Green
in Neurodegenerative disorders - adult onset
R-numbers: R58
Signed-off version 2.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Green
in White matter disorders - adult onset
R-numbers: R62
Signed-off version 1.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with vanishing white matter, 603896
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ovarioleukodystrophy, 603896, Leukoencephaly with vanishing white matter, 603896