| Gene (OMIM) | Key Gene References (PubMed) | Evidence (ClinGen)  |
|---|---|---|
| MT-RNR1 (see note 1) | Prezant et al., 1993 | not reviewed |
| MT-CO1 (see note 1, note 2) | Reid et al., 1994 | not reviewed |
| MT-TS1 (see note 1) | Reid et al., 1994 | not reviewed |
| MT-ND1 | Lévêque et al., 2007 | not reviewed |
| MT-TS2 | Lévêque et al., 2007 | not reviewed |
| MT-TH | Yan et al., 2011 | not reviewed |
| MT-TI | Gutiérrez Cortés et al., 2012 | not reviewed |
| MT-TL1 | Mori et al., 2016 | not reviewed |
| MT-TK | Mori et al., 2016 | not reviewed |
Note 1: Certain MT-RNR1, MT-CO1, and MT-TS1 variants are associated with susceptibility to aminoglycoside otoxicity that causes permanent hearing loss (Usami and Nishio, 2004).
Note 2: MT-CO1 variants at the border with MT-TS1 have been associated with nonsyndromic hearing loss (Reid et al., 1994; Pandya et al., 1999).