GJB6

gap junction protein beta 6
OMIM: 604418, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green GJB6 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.20

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Ectodermal dysplasia 2, Clouston type, 129500
  • Clouston syndrome
  • palmoplantar hyperkeratosis
  • ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT

Red GJB6 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.1

review Not set
Sources
  • Literature

Green GJB6 in Ichthyosis and erythrokeratoderma


Version 1.66
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 2, Clouston type, OMIM:129500

Green GJB6 in Ectodermal dysplasia


Version 1.26
Latest signed off version: v1.10 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 2, Clouston type, 129500
  • Clouston syndrome
  • Hidrotic Ectodermal Dysplasia

Green GJB6 in Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.22

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Clouston syndrome
  • Ectodermal dysplasia 2, Clouston type, 129500
  • Hidrotic Ectodermal Dysplasia

Amber GJB6 in Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.185
Latest signed off version: v2.5 (13 Feb 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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 dominant 3B, 612643
  • Deafness, autosomal recessive 1B, 612645
  • Deafness, digenic GJB2/GJB6, 220290
  • Ectodermal dysplasia 2, Clouston type, 129500
  • Nonsyndromic Hearing Loss, Dominant