GJB2

1 article(s) in the watch · Constitutional genetics

GJB2 encodes connexin 26, a gap-junction protein of the cochlea. Germline pathogenic GJB2 variants are the leading cause of autosomal-recessive non-syndromic sensorineural hearing loss (DFNB1).

Curated publications

7/10

Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants.

Neonatal genetic hearing loss (GJB2, SLC26A4, MT-RNR1, GJB3)

Gén.27 May 2026

Frequently asked questions

How many Geno'X publications cover the GJB2 gene?+

1 publication(s) on GJB2 have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics).

External references

OMIM ↗GeneReviews ↗ClinVar ↗NCBI Gene ↗