EGR2

early growth response 2
OMIM: 129010, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red EGR2 in White matter disorders and cerebral calcification - narrow panel


Version 1.32
Signed off v.1.12 on 2 Mar 2020

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Neuropathy, congenital hypomyelinating, 1, 605253
    • Charcot-Marie-Tooth disease,type 1D,607678
    • Dejerine-Sottas disease,145900

    Red EGR2 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Charcot-Marie-Tooth disease,type 1D,607678
    • Dejerine-Sottas disease,145900
    • Neuropathy, congenital hypomyelinating, 1, 605253

    Red EGR2 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.52
    Signed off v.3.2 on 13 Feb 2020

    review Not set
    Sources
    • Expert Review Red
    • Expert list

    Red EGR2 in Fetal anomalies


    Version 1.185
    Signed off v.1.92 on 21 Aug 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • NEUROPATHY, CONGENITAL HYPOMYELINATING, 1

    Green EGR2 in DDG2P


    Version 2.18
    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 Green
    Phenotypes
    • NEUROPATHY, CONGENITAL HYPOMYELINATING, 1 605253

    Green EGR2 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.383

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Charcot Marie Tooth disease, type 1D, 607678
    • Charcot-Marie-Tooth, Type 1

    Red EGR2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.740
    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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO

    Green EGR2 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Charcot-Marie-Tooth, Type 1
    • Charcot Marie Tooth disease, type 1D, 607678

    Green EGR2 in Severe Paediatric Disorders


    Version 1.43

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease, type 1D, 607678
    • Dejerine-Sottas disease, 145900
    • Hypomyelinating neuropathy, congenital, 1, 605253