Auditory Neuropathy

Locus (OMIM)Gene (OMIM)InheritanceKey Locus References (PubMed)Key Gene References (PubMed)
Evidence (ClinGen)
AUNA1DIAPH3Autosomal DominantKim et al., 2004Schoen et al., 2010Limited
AUNA2ATP11AAutosomal DominantLang-Roth et al., 2017Chepurwar et al., 2023not reviewed
AUNA3TMEM43Autosomal DominantJang et al., 2021Jang et al., 2021not reviewed
AUNB1OTOFAutosomal RecessiveVarga et al., 2003Varga et al., 2003not reviewed
AUNX1AIFM1X-linked RecessiveWang et al., 2006Zong et al., 2015Definitive

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.