Genomics England

EIF2B1

eukaryotic translation initiation factor 2B subunit alpha

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease, Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy with vanishing white matter, 603896
Green in Hereditary ataxia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy with vanishing white matter, 603896, Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Green in Leukodystrophy, adult onset R-numbers: R62 Signed-off version 7.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy with vanishing white matter, 603896
Green in Neonatal diabetes R-numbers: R143 Signed-off version 6.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Permanent neonatal/early onset diabetes and transient liver dysfunction
Green in Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy with vanishing white matter, OMIM:603896
Green in White matter disorders and cerebral calcification - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy with vanishing white matter, 603896, Childhood Ataxia with Central Nervous System Hypomyelination, General Leukodystrophy & Mitochondrial Leukoencephalopathy, eIF2B related disorder (Vanishing WM Disease or CACH)