EIF2B5

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

12 panels

Panel Reviews Mode of inheritance Details
12 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 1.14
Signed off v.1.12 on 2 Mar 2020

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 2.13
    Signed off v.2.2 on 2 Mar 2020

    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 1.6
    Signed off v.1.2 on 27 Feb 2020

    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 1.82

    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 1.217

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

    Green EIF2B5 in Neurodegenerative disorders - adult onset


    Version 2.16
    Signed off v.2.11 on 20 Aug 2020

    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 2.152
    Signed off v.2.2 on 13 Feb 2020

    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 2.9
    Signed off v.2.7 on 10 Mar 2020

    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 1.51
    Signed off v.1.48 on 20 Aug 2020

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

    Green EIF2B5 in Severe Paediatric Disorders


    Version 1.11

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukoencephalopathy with vanishing white matter, 603896
    • Ovarioleukodystrophy, 603896