MPZ

myelin protein zero
OMIM: 159440, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red MPZ 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Neuropathy,congenital hypomyelinating,605253
    • Congenital Hypomyelination

    Red MPZ in Inherited white matter disorders

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

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Congenital Hypomyelination
    • Neuropathy,congenital hypomyelinating,605253

    Red MPZ 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Neuropathy, congenital hypomyelinating 605253

    Red MPZ in Fetal anomalies


    Version 1.185
    Signed off v.1.92 on 21 Aug 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE Additional Gene List
    Phenotypes
    • Charcot-Marie-Tooth disease, type 1B 118200
    • Charcot-Marie-Tooth disease, type 2I 607677
    • Roussy-Levy syndrome 180800
    • Dejerine-Sottas disease 145900
    • Charcot-Marie-Tooth disease, type 2J 607736
    • Charcot-Marie-Tooth disease, dominant intermediate D 607791
    • Neuropathy, congenital hypomyelinating 605253

    Green MPZ 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
    • Eligibility statement prior genetic testing
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Charcot Marie Tooth disease, type 2I, 607677
    • Charcot Marie Tooth disease, type 1B, 118200
    • Charcot Marie Tooth disease, type 2J, 607736
    • Roussy Levy syndrome, 180800
    • Charcot Marie Tooth disease, type 2J, 607736
    • Roussy Levy syndrome, 180800
    • Charcot Marie Tooth disease, type 2I, 607677
    • Charcot Marie Tooth disease, dominant intermediate D, 607791
    • Dejerine Sottas disease, 145900
    • Dejerine Sottas disease, 145900
    • Charcot Marie Tooth disease, dominant intermediate D, 607791
    • Neuropathy, congenital hypomyelinating, 605253
    • Neuropathy, congenital hypomyelinating, 605253

    Red MPZ 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
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • Expert Review Red
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Associated with Charcot-Marie-Tooth disease, dominant intermediate D ( 607791)
    • Charcot-Marie-Tooth disease, type 1B

    Green MPZ 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
    • 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
    • Neuropathy, congenital hypomyelinating, 605253
    • Dejerine Sottas disease, 145900
    • Charcot Marie Tooth disease, dominant intermediate D, 607791
    • Roussy Levy syndrome, 180800
    • Charcot Marie Tooth disease, type 2J, 607736
    • Charcot Marie Tooth disease, type 1B, 118200
    • Charcot Marie Tooth disease, type 2I, 607677

    Green MPZ 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 2I, 607677
    • Dejerine-Sottas disease, 145900
    • Charcot-Marie-Tooth disease, type 2J, 607736
    • Roussy-Levy syndrome, 180800
    • Charcot-Marie-Tooth disease, type 1B, 118200
    • Hypomyelinating neuropathy, congenital, 2, 618184
    • Charcot-Marie-Tooth disease, dominant intermediate D, 607791