autosomal dominant nonsyndromic hearing loss 3A
MONDO:0011103Mondo
Findings
No curated finding names autosomal dominant nonsyndromic hearing loss 3A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene.
Definition from the Mondo Disease Ontology (MONDO:0011103), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GJB2HGNC:4284
- Strong · Ambry Genetics · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: autosomal dominant nonsyndromic hearing loss 3A
- Also called
- GJB2-AD NSHLGJB2-related autosomal dominant nonsyndromic hearing loss