PMP22

peripheral myelin protein 22
OMIM: 601097, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red PMP22 in White matter disorders and cerebral calcification - narrow panel


Version 1.94
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Neuropathy,inflammatory demyelinating,139393

    Red PMP22 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.94

    review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Neuropathy,inflammatory demyelinating,139393

    Red PMP22 in Fetal anomalies


    Version 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE Additional Gene List
    Phenotypes
    • Neuropathy, recurrent, with pressure palsies 162500
    • Charcot-Marie-Tooth disease, type 1A 118220
    • Charcot-Marie-Tooth disease, type 1E 118300
    • Dejerine-Sottas disease 145900
    • Neuropathy, inflammatory demyelinating 139393
    • Roussy-Levy syndrome 180800

    Green PMP22 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.385

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert list
    Phenotypes
    • Neuropathy, inflammatory demyelinating, 139393
    • Charcot Marie Tooth disease, type 1A, 118220
    • Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800
    • Dejerine Sottas disease, 145900
    • Dejerine Sottas disease, 145900
    • Neuropathy, recurrent, with pressure palsies, 162500
    • Neuropathy, recurrent, with pressure palsies, 162500
    • Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800
    • Neuropathy, inflammatory demyelinating, 139393

    Amber PMP22 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.162
    Latest signed off version: v2.5 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert
    Phenotypes
    • Charcot-Marie-Tooth disease, type 1E OMIM:118300
    • Charcot-Marie-Tooth disease type 1E MONDO:0007311

    Red PMP22 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1080
    Latest signed off version: v3.2 (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
    • Charcot-Marie-Tooth disease, type 1A, 118220
    • Dejerine-Sottas
    • disease, 145900
    • Neuropathy, recurrent, with pressure palsies, 162500
    • Charcot-Marie-Tooth disease, type 1E, 118300
    • Roussy-Levy syndrome, 180800
    • Neuropathy, inflammatory demyelinating, 139393

    Green PMP22 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.25
    Latest signed off version: v1.2 (27 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Eligibility statement prior genetic testing
    • 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
    • Dejerine Sottas disease, 145900
    • Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800
    • Neuropathy, recurrent, with pressure palsies, 162500
    • Charcot Marie Tooth disease, type 1A, 118220
    • Neuropathy, inflammatory demyelinating, 139393

    Green PMP22 in Severe Paediatric Disorders


    Version 1.77

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease, type 1E, 118300
    • ?Neuropathy, inflammatory demyelinating, 139393
    • Dejerine-Sottas disease, 145900
    • Roussy-Levy syndrome, 180800
    • Neuropathy, recurrent, with pressure palsies, 162500
    • Charcot-Marie-Tooth disease, type 1A, 118220