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פאנלים

Comprehensive hearing loss

GC_2

Last update: 06.01.2026

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.
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

ClinVar P/LP variants (IDs) not covered: ADGRV1:[2445626] | COL4A4:[3338164] | EYA1:[4292662]; [3897900] | GALNS:[3600992]; [3600991] | IDUA:[2507023]; [3393459] | MAN2B1:[3024226] | NF2:[3404989] | PAX3:[4526662] | PEX14:[3663959] | PTPRQ:[3378394] | RAI1:[1321231] | SERAC1:[4526663] | SMAD4:[3445838] | TMEM132E:[3779448]; [3778953] | ZNF469:[974045]; [974146]; [974324]; [974021]; [974113]

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