autosomal dominant nonsyndromic hearing loss 2A
MONDO:0010817Mondo
Findings
No curated finding names autosomal dominant nonsyndromic hearing loss 2A 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 KCNQ4 gene.
Definition from the Mondo Disease Ontology (MONDO:0010817), 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.
- KCNQ4HGNC:6298
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025