Genomics England

EIF2B3

eukaryotic translation initiation factor 2B subunit gamma

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
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 Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes vanishing white matter disease 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 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 General Leukodystrophy & Mitochondrial Leukoencephalopathy, Leukoencephalopathy with vanishing white matter 603896, eIF2B related disorder (Vanishing WM Disease or CACH)