EIF2B5

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

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green EIF2B5 in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ovarioleukodystrophy 603896

Green EIF2B5 in White matter disorders and cerebral calcification - narrow panel


Version 1.11

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • 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


    Version 2.0

    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 White matter disorders - adult onset


    Version 1.0

    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 1.205

    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 1.71

    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 1.213

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • progressive cerebellar ataxia
    • spasticity
    • cognitive impairment

    Green EIF2B5 in Neurodegenerative disorders - adult onset


    Version 2.0

    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
    • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease

    Green EIF2B5 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    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 - adult onset


    Version 2.0

    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 or chorea or related movement disorder


    Version 1.0

    review Not set
    Sources
    • Expert Review Red
    • London North GLH