Previous symbols: DFNB1, DFNA3. Aliases: CX26, NSRD1.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Autosomal Dominant Nonsyndromic Hearing Loss 3A | causative |
mechanism: Heterozygous Dominant-Acting GJB2 Variant
treatment: Experimental GJB2 Transcript Silencing
|
| Bart-Pumphrey Syndrome | causative |
mechanism: Connexin 26 Intracellular Retention; Heterozygous GJB2 First Extracellular Loop Missense Variant; Mutant Connexin 26 Gap Junction Channel Dysfunction
|
| GJB2-GJB6 Digenic Nonsyndromic Hearing Loss | causative |
mechanism: Loss of Cochlear Connexin Gap-Junction Coupling
|
| Keratitis-Ichthyosis-Deafness Syndrome | causative de novo gain of function |
mechanism: Heterozygous Gain-of-Function GJB2 Missense Variant
|
| Palmoplantar Keratoderma-Deafness Syndrome | causative |
mechanism: Dominant-Negative GJB2 Missense Variant
subtype: GJB2
scoped to subtype: GJB2
|
| Keratoderma Hereditarium Mutilans |
untyped
Causative
|
scoped to subtype: Classic Vohwinkel Syndrome
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| hearing loss disorder MONDO:0005365 | AD | Definitive 2018-06-26 |
no dismech entry |
| nonsyndromic genetic hearing loss MONDO:0019497 | AR | Definitive 2024-09-24 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.