autosomal recessive nonsyndromic hearing loss 1B
MONDO:0012977Mondo
Findings
No curated finding names autosomal recessive nonsyndromic hearing loss 1B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.
Definition from the Mondo Disease Ontology (MONDO:0012977), 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.
- GJB6HGNC:4288
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Limited · G2P · Autosomal recessive · 2017
Where it sits
- A kind of