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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

4 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Association with dominant deafness has been disputed as the variants originally reported are present at high frequency in the population. ClinGen assessed as DISPUTED.
Created: 2 Jan 2020, 4:25 a.m. | Last Modified: 2 Jan 2020, 4:25 a.m.
Panel Version: 2.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Phenotypes
Deafness, autosomal dominant 2B, MIM#612644

Publications

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