1. Genes and Genomic Entities
  2. EGR2

EGR2

early growth response 2
OMIM: 129010, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Red EGR2 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.18
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  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 1.186

    		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 2: Neurology
    Version 9.31
    Latest signed off version: v9.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • Expert list
    Red EGR2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.169
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • NEUROPATHY, CONGENITAL HYPOMYELINATING, 1
    Green EGR2 in DDG2P


    Version 6.438
    Latest signed off version: v6.0 (30 Apr 2025)

    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 1.506

    		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 2: Developmental disorders
    Version 9.330
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 or pain disorder


    Level 2: Neurology
    Version 7.43
    Latest signed off version: v7.0 (30 Apr 2025)

    		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