Hearing Loss

Analysis of all known genes associated with hearing loss

GC_2 Comprehensive hearing loss

Hearing loss is a genetically heterogeneous disorder that may be congenital or later-onset, nonsyndromic or syndromic, and sensorineural, conductive, or mixed.

Syndromic forms may be associated with abnormalities of the eyes, kidneys, thyroid, pigmentation, nervous system, connective tissue, or cardiac conduction.

This panel provides broad coverage of hereditary hearing loss and includes genes associated with isolated hearing loss, auditory neuropathy, inner-ear malformations, and syndromic forms of hearing impairment. It covers conditions such as Usher, Waardenburg, Branchio-oto-renal, Alport, Stickler, Pendred, and Jervell and Lange-Nielsen syndromes.

This panel is recommended as a first-line test for patients with suspected hereditary hearing loss when the clinical presentation is syndromic, the distinction between syndromic and nonsyndromic hearing loss is uncertain, or a broad genetic evaluation is preferred. It is particularly appropriate for patients with hearing loss accompanied by additional clinical findings, as well as for congenital, childhood-onset, progressive, bilateral, or familial hearing loss of unclear etiology.

Last update: 06.01.2026

ABCC1, ABHD12, ABHD5, ACOX1, ACTB, ACTG1, ADCY1, ADGRV1, AFG2A, AFG2B, AIFM1, ALMS1, AMMECR1, ANKH, ANLN, AP1B1, AP1S1, ARSB, ARSG, ATP11A, ATP1A3, ATP2B2, ATP6V0A4, ATP6V1B1, ATP6V1B2, BCAP31, BCS1L, BDP1, BSND, BTD, C10ORF2, CABP2, CACNA1D, CATSPER2, CCDC50, CD151, CD164, CDC14A, CDC42, CDH23, CDK9, CDKN1C, CEACAM16, CEMIP, CEP250, CEP78, CHD7, CHSY1, CIB2, CISD2, CLDN14, CLDN9, CLIC5, CLPP, CLRN1, CLRN2, COCH, COG4, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRLS1, CRYL1, CRYM, DAP3, DBH, DCAF17, DCDC2, DHRSX, DHX16, DIABLO, DIAPH1, DIAPH3, DLX5, DMXL2, DNAJC3, DNMT1, DPT, DSPP, DTNA, EDN3, EDNRA, EDNRB, EFTUD2, EIF3F, ELMOD3, EPS8, EPS8L2, ESPN, ESRP1, ESRRB, EYA1, EYA4, FAM136A, FDXR, FGF3, FGFR2, FGFR3, FITM2, FOXC1, FOXF2, FOXI1, GAB1, GALNS, GATA3, GDF6, GGPS1, GIPC3, GJA1, GJB1, GJB2, GJB3, GJB6, GLB1, GNS, GPR156, GPRASP2, GPSM2, GRAP, GREB1L, GRHL2, GRXCR1, GRXCR2, GSDME, GUSB, HAAO, HARS1, HARS2, HGF, HGSNAT, HMX2, HOMER2, HOXA2, HOXB1, HSD17B4, HYAL1, IDS, IDUA, IFNLR1, ILDR1, JAG1, KARS1, KCNE1, KCNJ10, KCNJ16, KCNQ1, KCNQ4, KDM3B, KIT, KITLG, KMT2D, LARS2, LETM1, LHFPL5, LHX3, LMX1A, LOXHD1, LOXL3, LRP2, LRTOMT, MAN2B1, MANBA, MARVELD2, MASP1, MCM2, MEOX1, MET, MGP, MINAR2, MIR96, MITF, MN1, MORC2, MPZ, MPZL2, MRPL49, 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, MYH7B, MYH9, MYO15A, MYO18B, MYO1A, MYO1C, MYO1F, MYO3A, MYO6, MYO7A, NAGLU, NARS2, NDP, NDRG1, NEFL, NF2, NLRP12, NLRP3, NOG, NR2F1, NTN1, NTN4, OGDHL, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, OXR1, P2RX2, PAX1, PAX2, PAX3, PBX1, PCDH15, PCGF2, PDE1C, PDSS1, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PI4KB, PIP4P1, PISD, PJVK, PKHD1L1, PLCG1, PLS1, PLXNB2, PMP22, PNPT1, POLD1, POLR1C, POLR1D, POU3F4, POU4F3, PPIP5K2, PRKCB, PRORP, PRPS1, PSMC3, PTPN11, PTPRQ, PTPRS, PTRH2, RAI1, RDX, REST, RFC4, RIPOR2, RMND1, RNF220, ROR1, RPS6KA3, S1PR2, SALL1, SALL4, SCD5, SCP2, SEMA3D, SEMA3E, SERAC1, SERPINB6, SGPL1, SGSH, SH3TC2, SIX1, SIX2, SIX5, SLC12A2, SLC17A8, SLC19A2, SLC22A4, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC44A4, SLC4A11, SLC52A2, SLC52A3, SLITRK6, SMAD4, SMPX, SNAI2, SOX10, SOX2, SPATA5, SPATA5L1, SPATC1L, SPNS2, SPTBN4, STAG2, STRC, STX4, STXBP3, SUCLA2, SUCLG1, SYNE4, SYT2, TBC1D24, TBL1X, TBX1, TBX2, TCOF1, TECTA, TFAP2A, THOC1, TIMM8A, TJP2, TMC1, TMC2, TMEM126A, TMEM132E, TMIE, TMPRSS3, TMTC2, TNC, TOP2B, TPRN, TRIOBP, TRMU, TRRAP, TSHZ1, TSPEAR, TUBB4B, TWNK, UBR1, USH1C, USH1G, USH2A, USP48, VCAN, WBP2, WFS1, WHRN, XPA, XYLT2, YARS1, ZNF469

GC_39 Non-syndromic hearing losssources

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.

Last update: 18.01.2026

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]