GJB2
HGNC:4284 · SaudiVarKB evidence summary derived from retained literature mentions.
11Gene mentions
11Publications
5Linked variants
1Associated phenotypes
Associated phenotypes
Co-mentioned in GJB2 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| hearing loss | HP:0000365 | 9 | 9 |
Linked variants
Variants normalized to GJB2| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| A7445G | — | 1 | 1 |
| p.Cys169Tyr | p.Cys169Tyr | 1 | 1 |
| p.Glu57* | p.Glu57* | 1 | 1 |
| p.Arg1792His | p.Arg1792His | 1 | 1 |
| c.35delG | c.35delG | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | — | 2 |
| Saudi Arabia | — | — | 1 |
| Not specified | — | 40 | 1 |
| Saudi Arabia | — | 50 | 1 |
| Not specified | — | 44 | 1 |
| Saudi Arabia | — | 100 | 1 |
| Saudi Arabia | — | 366 | 1 |
| Saudi Arabia | — | 33 | 1 |
| Saudi Arabia | — | 109 | 1 |
Supporting publications
11 records- 2025Consanguinity and rare monogenic systemic autoinflammatory disorders: implications for prevalence and genetic variability.Pediatric rheumatology online journalPubMed ↗
- 2024Testing for genetic and viral etiologies in congenital hearing loss based on a survey of cochlear implant centers: proposed HEARRING group consensus and future directions.Acta oto-laryngologicaPubMed ↗
- 2021Whole exome sequencing, in silico and functional studies confirm the association of the GJB2 mutation p.Cys169Tyr with deafness and suggest a role for the TMEM59 gene in the hearing process.Saudi journal of biological sciencesPubMed ↗
- 2020Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsPubMed ↗
- 2019Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort.Molecular genetics & genomic medicinePubMed ↗
- 2018Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.Genetics in medicine : official journal of the American College of Medical GeneticsPubMed ↗
- 2017Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations.Anais brasileiros de dermatologiaPubMed ↗
- 2016Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia.BMC medical geneticsPubMed ↗
- 2013Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family.GenePubMed ↗
- 2010Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia.Genetic testing and molecular biomarkersPubMed ↗
- 2010High homogeneity in auditory outcome of pediatric CI-patients with mutations in Gap-Junction-Protein Beta2.International journal of pediatric otorhinolaryngologyPubMed ↗