Monogenic hearing loss
Gene: GJB2
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
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inheritance:Autosomal dominant;Autosomal recessive;Digenic dominantCreated: 9 Feb 2016, 10:05 a.m.
Inheritance:Digenic dominant,Autosomal dominant,Autosomal recessiveCreated: 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
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:26 p.m.
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.
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
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
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
This gene has been classified as Green List (High Evidence).
GJB2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene GJB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene GJB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene GJB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene GJB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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