| Locus (OMIM) | Gene (OMIM) | Inheritance | Key Locus References (PubMed) | Key Gene References (PubMed) | Evidence (ClinGen)  |
|---|---|---|---|---|---|
| AUNA1 | DIAPH3 | Autosomal Dominant | Kim et al., 2004 | Schoen et al., 2010 | Limited |
| AUNA2 | ATP11A | Autosomal Dominant | Lang-Roth et al., 2017 | Chepurwar et al., 2023 | not reviewed |
| AUNA3 | TMEM43 | Autosomal Dominant | Jang et al., 2021 | Jang et al., 2021 | not reviewed |
| AUNB1 | OTOF | Autosomal Recessive | Varga et al., 2003 | Varga et al., 2003 | not reviewed |
| AUNX1 | AIFM1 | X-linked Recessive | Wang et al., 2006 | Zong et al., 2015 | Definitive |
These genes are those listed in OMIM for auditory neuropathy and represent only a subset of the genes known to cause auditory neuropathy spectrum disorder (ANSD). 40% of ANSD is estimated to have a genetic basis with autosomal dominant, autosomal recessive, mitochondrial and X-linked inheritance reported. Causative genes also include but are not limited to PJVK and mtDNA (m.1095T>C) in nonsyndromic ANSD and PMP22, MPZ, TMEM126A and DDDP in syndromic ANSD.