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Hearing loss

Gene: GJB2

Green List (high evidence)

GJB2 (gap junction protein beta 2)
EnsemblGeneIds (GRCh38): ENSG00000165474
EnsemblGeneIds (GRCh37): ENSG00000165474
OMIM: 121011, Gene2Phenotype
GJB2 is in 11 panels

6 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Adding publication PMID: 31160754 Shen et al 2019 Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel as additional information.
Created: 7 Aug 2019, 3:45 p.m. | Last Modified: 7 Aug 2019, 3:45 p.m.
Panel Version: 1.122
Large deletions upstream of GJB6 can affect expression of this gene.
Created: 5 Jun 2019, 11:47 a.m.

Publications

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Jun Shen (Harvard Medical School)

Inheritance:Autosomal dominant;Autosomal recessive;Digenic dominant
Created: 9 Feb 2016, 10:05 a.m.
Inheritance:Digenic dominant,Autosomal dominant,Autosomal recessive
Created: 7 Feb 2016, 9:22 a.m.

Mode of inheritance
Other

Phenotypes
#124500:Vohwinkel syndrome[Hearing loss, mild to moderate; Circular constrictions of digits (pseudoainhum)Autoamputation; Papular keratoderma, mildHoneycomb keratodermaStarfish-like acral keratoses (knuckles)PseudoainhumAutoamputation of digits]; #148210:Keratitis-ichthyosis-deafness syndrome[Sensorineural deafness; PhotophobiaCorneal ulcerationBlindnessSuperficial and deep corneal stromal vascularization with scarringKeratoconjunctivitis siccaLimbal stem cell insufficiencyScant eyebrowsScant eyelashesThickened and keratinized eyelidsTrichiasis; Scrotal tongueOral leukoplakia; Elbow contracturesKnee contractures; Tight heel cordsPes cavus; Congenital erythrokeratodermiaMild lamellar ichthyosisHyperkeratosis (palms, soles, elbows, knees)Decreased sweating; Nail dystrophy, variable; Scant eyebrowsScant eyelashesScant scalp hair; Recurrent cutaneous mycosesRecurrent bacterial skin infections; Squamous cell carcinoma (skin and tongue)]; #148350:Keratoderma, palmoplantar, with deafness[Hearing loss, high frequency, slowly progressive (onset in early childhood); Palmoplantar hyperkeratosis]; #149200:Bart-Pumphrey syndrome[Knuckle pads; Leukonychia; Cochlear deafness; Keratosis palmaris et plantaris]; #220290:Deafness, autosomal recessive 1A[Hearing loss, sensorineural, prelingual profoundVestibular dysfunction (in some patients)]; #601544:Deafness, autosomal dominant 3A[Nonsyndromic neurosensory deafness]; #602540:Hystrix-like ichthyosis with deafness[Deafness, sensorineural; Absent eyelashes; Pes cavus; Spiky hyperkeratosisErythrodermaPunctate keratitisIchthyosisVariable involvement of palms and soles; Absent-sparse eyelashesSparse eyebrowsScarring alopecia; Squamous cell carcinoma]

Publications

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 3:26 p.m.

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 11 Oct 2018, 1:46 p.m.
New review confirms gene status and mode of inheritance; no changes required.
Created: 11 Oct 2018, 1:46 p.m.
Both recessive and dominant forms of Nonsyndromic Hearing Loss are reported for these gene in the Illumina source.
Created: 2 Jul 2015, 7:21 a.m.

Details

Mode of Inheritance
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
OMIM
121011
Clinvar variants
Variants in GJB2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Aug 2019, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: GJB2 were set to PMID:10218527; 10369869; 10376574; 10422812; 10544226; 10607953; 10633133; 10633135; 10713883; 10757647; 10782932; 10807696; 10830906; 10874298; 10903123; 10980526; 10981905; 10982180; 10982182; 11134236; 11179004; 11298683; 11313751; 11313763; 11354642; 11483639; 11556849; 11746015; 11807148; 11912510; 11935342; 11977173; 12072059; 12080392; 12081719; 12107817; 12111646; 12121355; 12121617; 12172392; 12172394; 12176036; 12189487; 12189493; 12239718; 12372058; 12384501; 12384781; 12457154; 12484567; 12522556; 12548749; 12560944; 12668604; 12684873; 12700168; 12752120; 12786758; 12786762; 12833397; 12865758; 12920081; 1324944; 1370487; 14070830; 14505035; 14694360; 14700667; 14735592; 14985372; 14986832; 15150777; 15151513; 15235031; 15241677; 15253766; 15365987; 15482471; 15592461; 15633193; 15666300; 15700112; 15952212; 15996214; 16059934; 16088916; 16222667; 16380907; 16628254; 16650079; 16773579; 16840571; 16868655; 17036313; 17041943; 17256794; 17330861; 17426645; 17505205; 17660464; 17713529; 17935238; 17993581; 1849321; 18843290; 18925674; 18941476; 18985073; 19050930; 19340074; 19375528; 1964417; 20236118; 20412116; 20442751; 20815033; 21776002; 22031297; 22981120; 25262649; 2706105; 2956987; 8789457; 8978770; 9139825; 9285800; 9326398; 9328482; 9336442; 9358053; 9422505; 9471561; 9482292; 9482297; 9529365; 9620796; 9716127; 9819448; 9856479

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GJB2 were set to 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

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GJB2 were set to PMID:10218527; 10369869; 10376574; 10422812; 10544226; 10607953; 10633133; 10633135; 10713883; 10757647; 10782932; 10807696; 10830906; 10874298; 10903123; 10980526; 10981905; 10982180; 10982182; 11134236; 11179004; 11298683; 11313751; 11313763; 11354642; 11483639; 11556849; 11746015; 11807148; 11912510; 11935342; 11977173; 12072059; 12080392; 12081719; 12107817; 12111646; 12121355; 12121617; 12172392; 12172394; 12176036; 12189487; 12189493; 12239718; 12372058; 12384501; 12384781; 12457154; 12484567; 12522556; 12548749; 12560944; 12668604; 12684873; 12700168; 12752120; 12786758; 12786762; 12833397; 12865758; 12920081; 1324944; 1370487; 14070830; 14505035; 14694360; 14700667; 14735592; 14985372; 14986832; 15150777; 15151513; 15235031; 15241677; 15253766; 15365987; 15482471; 15592461; 15633193; 15666300; 15700112; 15952212; 15996214; 16059934; 16088916; 16222667; 16380907; 16628254; 16650079; 16773579; 16840571; 16868655; 17036313; 17041943; 17256794; 17330861; 17426645; 17505205; 17660464; 17713529; 17935238; 17993581; 1849321; 18843290; 18925674; 18941476; 18985073; 19050930; 19340074; 19375528; 1964417; 20236118; 20412116; 20442751; 20815033; 21776002; 22031297; 22981120; 25262649; 2706105; 2956987; 8789457; 8978770; 9139825; 9285800; 9326398; 9328482; 9336442; 9358053; 9422505; 9471561; 9482292; 9482297; 9529365; 9620796; 9716127; 9819448; 9856479

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).

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Eligibility statement prior genetic testing

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GJB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,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 GJB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,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 GJB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,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 GJB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert