Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hearing loss

Gene: GJB3

Green List (high evidence)

GJB3 (gap junction protein beta 3)
EnsemblGeneIds (GRCh38): ENSG00000188910
EnsemblGeneIds (GRCh37): ENSG00000188910
OMIM: 603324, Gene2Phenotype
GJB3 is in 9 panels

3 reviews

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Jun Shen (Harvard Medical School)

Inheritance:Autosomal dominant;Autosomal recessive;Digenic dominant
Created: 9 Feb 2016, 10:04 a.m.

Mode of inheritance
Other

Phenotypes
#133200:Erythrokeratodermia variabilis et progressiva[Hyperkeratosis, generalizedLocalized symmetric fixed, yellow- or red-brown hyperkeratotic plaques (extensor surface of extremities, buttocks, and lateral trunk)Palmoplantar keratoderma, patchy (> 50%)Transient, migratory sharply outlined erythema (in some patients)Darkening of periorificial areas; PapillomatosisAcanthosisHypergranulosisCompact orthohyperkeratosis with retained nucleiFollicular plugging in less affected areas; Enlarged porcelain-white lunulae]; #220290:Deafness, digenic, GJB2/GJB3[Hearing loss, sensorineural, prelingual profoundVestibular dysfunction (in some patients)]; #612644:Deafness, autosomal dominant 2B[Hearing loss, bilateral high-frequency, sensorineural]

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 3:28 p.m.
Comment on mode of inheritance: evidence from OMIM of some biallelic cases
Created: 29 Jan 2016, 3:28 p.m.

Details

Mode of Inheritance
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
OMIM
603324
Clinvar variants
Variants in GJB3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GJB3 were set to 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

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GJB3 were set to PMID:10587579; 10594760; 10757647; 10798362; 11175305; 11309368; 12019212; 12165562; 12452892; 14583444; 16549784; 17446259; 1828175; 19050930; 19755382; 9347797; 9704026; 9843209; 9843210

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jan 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for GJB3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GJB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GJB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GJB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GJB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert