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Non-syndromic hearing loss_sources

GC_39

Last update: 18.01.2026

Non-syndromic hearing loss is hereditary hearing impairment that occurs without consistent extra-auditory manifestations. It may be congenital or later-onset, stable or progressive, and sensorineural, conductive, or mixed.

This panel focuses on genes associated primarily with isolated hereditary hearing loss, including common causes of congenital and progressive deafness, auditory neuropathy, and selected forms of isolated conductive or mixed hearing loss.

This panel is recommended for patients with apparently isolated hearing loss and no clinical evidence of a broader syndromic disorder. If hearing loss is accompanied by ocular, renal, neurologic, pigmentary, endocrine, connective-tissue, or cardiac abnormalities, or if the syndromic status remains uncertain, GC_2- Comprehensive Hearing Loss Panel is the preferred first-line test.
ACTG1, ADCY1, ADGRV1, AFG2B, ATP11A, ATP2B2, BDP1, BSND, CABP2, CATSPER2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLDN9, CLIC5, COCH, COL11A1, COL11A2, COL4A6, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, DSPP, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA4, GIPC3, GJB2, GJB3, GJB6, GPSM2, GREB1L, GRHL2, GRXCR1, GRXCR2, GSDME, HGF, HOMER2, ILDR1, KARS1, KCNQ4, LHFPL5, LMX1A, LOXHD1, LRTOMT, MARVELD2, MET, MINAR2, MIR96, MPZL2, MSRB3, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NLRP3, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PCDH15, PDE1C, PDZD7, PI4KB, PJVK, PLS1, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, REST, RIPOR2, S1PR2, SERPINB6, SIX1, SLC12A2, SLC17A8, SLC22A4, SLC26A4, SLC26A5, SLITRK6, SMPX, STRC, SYNE4, TBC1D24, TECTA, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, USH1G, USH2A, WBP2, WFS1, WHRN

ClinVar P/LP variants (IDs) not covered: ADGRV1:[2445626] | PTPRQ:[3378394] | TMEM132E:[3779448]; [3778953]

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