PanelApp (test)
  1. Genes and Genomic Entities
  2. EIF2B3:Ensemblv90

EIF2B3:Ensemblv90

eukaryotic translation initiation factor 2B subunit gamma
OMIM: 606273, ClinGen, DECIPHER

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green EIF2B3 in Mendeliome


Version 1.3802

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

Green EIF2B3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review 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 EIF2B3 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.601

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

    Red EIF2B3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

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

    Green EIF2B3 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.62

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Leukoencephalopathy with vanishing white matter, 603896
    • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease

    Green EIF2B3 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • 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 EIF2B3 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.334

    Component of the following Super Panels:

  • Leukodystrophy_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 EIF2B3 in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.153

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Leukoencephalopathy with vanishing white matter, MIM#603896, MONDO:0011380

    Green EIF2B3 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)

    Amber EIF2B3 in Fetal anomalies


    Version 1.482

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

    Green EIF2B3 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 3, with or without ovarian failure MIM#620313

    Green EIF2B3 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 3, with or without ovarian failure MIM#620313

    Green EIF2B3 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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

    Green EIF2B3 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

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

    Green EIF2B3 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert list
    • Expert Review Green
    Phenotypes
    • Leukoencephalopathy with vanishing white matter, 603896
    • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease

    Green EIF2B3 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

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

    Green EIF2B3 in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Leukoencephalopathy with vanishing white matter, MIM#603896, MONDO:0011380

    Green EIF2B3 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

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

    Green EIF2B3 in Prepair 1000+


    Level 2: Screening
    Version 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure MIM#620313

    Green EIF2B3 in Prepair 500+


    Level 2: Screening
    Version 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure MIM#620313