GJB3

gap junction protein beta 3
OMIM: 603324, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green GJB3 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Erythrokeratodermia variabilis et progressiva, 133200
  • Erythrokeratodermia Variabilis
  • Erythrokeratoderma
  • deafness
  • peripheral neuropathy
Red GJB3 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3

review Not set
Sources
  • Literature
Green GJB3 in Ichthyosis and erythrokeratoderma


Version 3.28
Latest signed off version: v3.2 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva, OMIM:133200
Green GJB3 in Pigmentary skin disorders


Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
  • EKVP1
  • Erythrokeratodermia variabilis
Green GJB3 in Rare genetic inflammatory skin disorders


Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 1, OMIM:133200
No list GJB3 in Fetal anomalies


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

review Not set
Sources
  • Expert Review Removed
Green GJB3 in DDG2P


Version 4.5
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644
    • ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200
    • DEAFNESS, AUTOSOMAL RECESSIVE
    Green GJB3 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.41
    Latest signed off version: v4.39 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • hearing loss
    • Nonsyndromic Hearing Loss, Dominant
    • Erythrokeratodermia variabilis et progressiva, 133200
    • Deafness, autosomal dominant 2B, 612644
    • Deafness, autosomal recessive
    • Deafness, autosomal dominant, with peripheral neuropathy
    • Deafness, digenic, GJB2/GJB3, 220290
    Tags
    • for-review
    • to_be_confirmed_NHSE
    Amber GJB3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.26
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Erythrokeratodermia variabilis et progressiva, 133200
    • Deafness, autosomal dominant 2B, 612644
    • Deafness, autosomal recessive
    • Deafness, autosomal dominant, with peripheral neuropathy
    • Deafness, digenic, GJB2/GJB3, 220290
    Green GJB3 in Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Deafness, autosomal dominant, with peripheral neuropathy
    • Deafness, autosomal recessive
    • Deafness, digenic, GJB2/GJB3, 220290
    • Erythrokeratodermia variabilis et progressiva 1, 133200
    • Deafness, autosomal dominant 2B, 612644