EIF2B5

eukaryotic translation initiation factor 2B subunit epsilon
OMIM: 603945, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green EIF2B5 in Primary ovarian insufficiency Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 1.71	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ovarioleukodystrophy 603896
Green EIF2B5 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.11 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Ovarioleukodystrophy, 603896 General Leukodystrophy & Mitochondrial Leukoencephalopathy eIF2B related disorder (Vanishing WM Disease or CACH)
Green EIF2B5 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Green EIF2B5 in Adult onset leukodystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukoencephalopathy with vanishing white matter, 603896
Green EIF2B5 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Green EIF2B5 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Ovarioleukodystrophy, 603896 eIF2B related disorder (Vanishing WM Disease or CACH) General Leukodystrophy & Mitochondrial Leukoencephalopathy
No list EIF2B5 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.316	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes progressive cerebellar ataxia spasticity cognitive impairment
Green EIF2B5 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, OMIM:603896
Green EIF2B5 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EIF2B5-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896
Green EIF2B5 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter 603896 Ovarioleukodystrophy 603896
Green EIF2B5 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Red EIF2B5 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH