autosomal recessive nonsyndromic hearing loss 1A
Findings
No curated finding names autosomal recessive nonsyndromic hearing loss 1A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.
Definition from the Mondo Disease Ontology (MONDO:0009076), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance · Digenic inheritance
HPO, annotations 2026-09-02
Genes
2 genes
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
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- GJB3HGNC:4285
- Moderate · G2P · Autosomal dominant · 2022
- Moderate · G2P · Autosomal recessive · 2022
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
2 names
Resolves to: autosomal recessive nonsyndromic hearing loss 1A
- Also called
- GJB2-AR NSHLGJB2-related autosomal recessive nonsyndromic hearing loss