TOE1

target of EGR1, exonuclease
OMIM: 613931, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green TOE1 in Ataxia and cerebellar anomalies - narrow panel


Version 2.6
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
    • Pontocerebellar hypoplasia, type 7 614969

    Green TOE1 in Disorders of sex development

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 2.4
    Signed off v.2.2 on 3 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Pontocerebellar hypoplasia, type 7 614969

    Green TOE1 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.41

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Pontocerebellar hypoplasia, type 7 614969

    Amber TOE1 in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • PONTOCEREBELLAR HYPOPLASIA

    Amber TOE1 in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • PONTOCEREBELLAR HYPOPLASIA

    Green TOE1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.160
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Pontocerebellar hypoplasia, type 7 614969

    Green TOE1 in Hereditary ataxia - adult onset


    Version 2.8
    Signed off v.2.7 on 10 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Pontocerebellar hypoplasia 7, 614969

    Red TOE1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

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

    Green TOE1 in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia, type 7, 614969