PanelApp
  1. Genes and Genomic Entities
  2. EIF2B5

EIF2B5

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

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green EIF2B5 in Mendeliome


Version 1.4216

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • leukoencephalopathy with vanishing white matter MONDO:0011380
  • ataxia
  • spasticity
  • optic atrophy
  • primary ovarian failure

Green EIF2B5 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.362

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • leukoencephalopathy with vanishing white matter MONDO:0011380

    Green EIF2B5 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.602

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red EIF2B5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.638

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Leukoencephalopathy with vanishing white matter, MIM#603896

    Green EIF2B5 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukoencephalopathy with vanishing white matter MIM#603896

    Green EIF2B5 in Leukodystrophy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.392

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukoencephalopathy with vanishing white matter, MIM# 603896

    Green EIF2B5 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leukoencephalopathy with vanishing white matter, 603896 (3)

    Green EIF2B5 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.394

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert list
    Phenotypes
    • Ovarioleukodystrophy 603896

    Green EIF2B5 in Prepair 1000+


    Level 2: Screening
    Version 2.15

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leukoencephalopathy with vanishing white matter, 603896 (3)

    Green EIF2B5 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure (MIM#620315)

    Green EIF2B5 in Infertility and Recurrent Pregnancy Loss


    Version 1.78

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Ovarioleukodystrophy, MIM# 620315