GJB2

gap junction protein beta 2
OMIM: 121011, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Red GJB2 in Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Hystrix-like ichthyosis with deafness, 602540
  • HID syndrome
  • Scarring alopecia

Amber GJB2 in Familial hidradenitis suppurativa

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Keratitis-ichthyosis-deafness syndrome, 148210 with follicular occlusion triad (includes hidradenitis suppurativa)

Green GJB2 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.24

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Keratoderma with deafness
  • Deafness, autosomal recessive 1A, 220290
  • Deafness, autosomal dominant 3A, 601544
  • Vohwinkel syndrome, 124500
  • Keratoderma, palmoplantar, with deafness, 148350
  • Keratitis-ichthyosis-deafness syndrome, 148210
  • Hystrix-like ichthyosis with deafness, 602540
  • Bart-Pumphrey syndrome, 149200

Green GJB2 in Ichthyosis and erythrokeratoderma


Version 1.73
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hystrix-like ichthyosis with deafness, OMIM:602540
  • Keratoderma, palmoplantar, with deafness, OMIM:148350
  • Keratitis-ichthyosis-deafness syndrome, OMIM:148210
  • Vohwinkel syndrome, OMIM:24500
  • Bart-Pumphrey syndrome, OMIM:149200

Amber GJB2 in Ectodermal dysplasia


Version 1.41
Latest signed off version: v1.10 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Hystrix-like ichthyosis with deafness, 602540
  • clouston syndrome
  • Scarring alopecia
  • HID syndrome

Red GJB2 in Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.23

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • clouston syndrome

Green GJB2 in Palmoplantar keratodermas


Version 1.18
Latest signed off version: v1.3 (15 Oct 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • KID syndrome, Ectodermal dysplasia, Bart-Pumphrey syndrome, Ichthyosis hystrix

Red GJB2 in Fetal anomalies


Version 1.880
Latest signed off version: v1.92 (21 Aug 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • VOHWINKEL SYNDROME
  • ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME
  • PALMOPLANTAR KERATODERMA WITH DEAFNESS
  • BART-PUMPHREY SYNDROME
  • DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A

No list GJB2 in DDG2P


Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • DD-Gene2Phenotype
    Phenotypes
    • VOHWINKEL SYNDROME 124500
    • ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME 602540
    • PALMOPLANTAR KERATODERMA WITH DEAFNESS 148350
    • DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A 220290
    • BART-PUMPHREY SYNDROME 149200

    Green GJB2 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.247
    Latest signed off version: v2.5 (13 Feb 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • hearing loss
    • Deafness, autosomal recessive 1A, 220290
    • Deafness, autosomal dominant 3A, 601544
    • Vohwinkel syndrome, 124500
    • Keratoderma, palmoplantar, with deafness, 148350
    • Keratitis-ichthyosis-deafness syndrome, 148210
    • Hystrix-like ichthyosis with deafness, 602540
    • Bart-Pumphrey syndrome, 149200
    • Nonsyndromic Hearing Loss, Dominant
    • Hearing Loss or deafness

    Red GJB2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Deafness, autosomal recessive 1A, 220290
    • Deafness, autosomal
    • dominant 3A, 601544
    • Vohwinkel syndrome, 124500
    • Keratoderma, palmoplantar, with deafness, 148350
    • Keratitis-ichthyosis-deafness
    • syndrome, 148210
    • Hystrix-like ichthyosis with deafness, 602540
    • Bart-Pumphrey syndrome, 149200

    Green GJB2 in Severe Paediatric Disorders


    Version 1.127

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Deafness, autosomal recessive 1A, 220290
    • Keratoderma, palmoplantar, with deafness, 148350
    • Vohwinkel syndrome, 124500
    • Deafness, autosomal dominant 3A, 601544
    • Hystrix-like ichthyosis with deafness, 602540
    • Bart-Pumphrey syndrome, 149200
    • Keratitis-ichthyosis-deafness syndrome, 148210