GJB1

gap junction protein beta 1
OMIM: 304040, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green GJB1 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 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    Phenotypes
    • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1

    Green GJB1 in White matter disorders - adult onset


    Version 1.7
    Signed off v.1.6 on 15 Oct 2020

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800

    Green GJB1 in Inherited white matter disorders

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

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • UKGTN
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800

    Green GJB1 in Hereditary neuropathy

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

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800
    • Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800
    • Charcot-Marie-Tooth, X-linked
    • Charcot-Marie-Tooth, X-linked

    Red GJB1 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.146
    Signed off v.2.5 on 13 Feb 2020

    review Not set
    Sources
    • Expert

    Amber GJB1 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 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Amber
    • Expert Review Amber
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800

    Green GJB1 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    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
    • Charcot-Marie-Tooth, X-linked
    • Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800

    Green GJB1 in Severe Paediatric Disorders


    Version 1.43

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800