List of diseases covered by
Sensorineural Hearing loss NGS panel
| Gene | Condition |
| ACTG1 | Deafness, autosomal dominant 20/26; Baraitser-Winter syndrome 2 |
| ADGRV1 | Usher syndrome, type 2C, GPR98/PDZD7 digenic; Febrile seizures, familial, 4 |
| ATP2B2 | Deafness, autosomal recessive 12, modifier of |
| ATP6V1B1 | Renal tubular acidosis with deafness |
| BSND | Sensorineural deafness with mild renal dysfunction |
| CCDC50 | Deafness, autosomal dominant 44 |
| CDH23 | Usher syndrome, type 1D; Deafness, autosomal recessive 12 |
| CEACAM16 | Deafness, autosomal dominant 4B |
| CIB2 | Usher syndrome, type IJ; Deafness, autosomal recessive 48 |
| CLDN14 | Deafness, autosomal recessive 29 |
| CLRN1 | Usher syndrome, type 3A; Retinitis pigmentosa 61 |
| COCH | Deafness, autosomal dominant 9 |
| COL11A2 | Deafness, autosomal dominant 13; Deafness, autosomal recessive 53; Fibrochondrogenesis 2; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Otospondylomegaepiphyseal dysplasia, autosomal recessive |
| CRYM | Deafness, autosomal dominant 40 |
| DFNA5 | Deafness, autosomal dominant 5 |
| DFNB59 | Deafness, autosomal recessive 59 |
| DIABLO | Deafness, autosomal dominant 64 |
| DIAPH1 | Deafness, autosomal dominant 1; Seizures, cortical blindness, microcephaly syndrome |
| DIAPH3 | Auditory neuropathy, autosomal dominant, 1 |
| ESPN | Deafness, autosomal recessive 36 |
| ESRRB | Deafness, autosomal recessive 35 |
| EYA4 | Deafness, autosomal dominant 10 |
| FOXI1 | Enlarged vestibular aqueduct |
| GIPC3 | Deafness, autosomal recessive 15 |
| GJB2 | Bart-Pumphrey syndrome; Deafness, autosomal dominant 3A; Deafness, autosomal recessive 1A; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome; Keratoderma, palmoplantar, with deafness; Vohwinkel syndrome |
| GJB3 | Deafness, autosomal dominant 2B; Deafness, digenic, GJB2/GJB3; Erythrokeratodermia variabilis et progressiva 1 |
| GJB6 | Deafness, autosomal dominant 3B; Deafness, autosomal recessive 1B; Deafness, digenic GJB2/GJB6; Ectodermal dysplasia 2, Clouston type |
| GPSM2 | Chudley-McCullough syndrome |
| GRHL2 | Deafness, autosomal dominant 28; Corneal dystrophy, posterior polymorphous, 4; Ectodermal dysplasia/short stature syndrome |
| GRXCR1 | Deafness, autosomal recessive 25 |
| HARS1 | Usher syndrome type 3B |
| HGF | Deafness, autosomal recessive 39 |
| ILDR1 | Deafness, autosomal recessive 42 |
| KCNJ10 | Enlarged vestibular aqueduct, digenic; SESAME syndrome |
| KCNQ4 | Deafness, autosomal dominant 2A |
| LHFPL5 | Deafness, autosomal recessive 67 |
| LOXHD1 | Deafness, autosomal recessive 77 |
| LRTOMT | Deafness, autosomal recessive 63 |
| MAN2B1 | Mannosidosis, alpha-, types I and II |
| MARVELD2 | Deafness, autosomal recessive 49 |
| MIR96 | Deafness, autosomal dominant 50 |
| MSRB3 | Deafness, autosomal recessive 74 |
| MYH14 | Deafness, autosomal dominant 4A; Peripheral neuropathy, myopathy, hoarseness, and hearing loss |
| MYH9 | Deafness, autosomal dominant 17; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| MYO15A | Deafness, autosomal recessive 3 |
| MYO3A | Deafness, autosomal recessive 30 |
| MYO6 | Deafness, autosomal dominant 22; Deafness, autosomal recessive 37 |
| MYO7A | Usher syndrome, type 1B; Deafness, autosomal recessive 2; Deafness, autosomal dominant 11 |
| OTOA | Deafness, autosomal recessive 22 |
| OTOF | Deafness, autosomal recessive 9 |
| PCDH15 | Usher syndrome, type 1F; Usher syndrome, type 1D/F digenic; Deafness, autosomal recessive 23 |
| PDZD7 | Usher syndrome, type IIC, GPR98/PDZD7 digenic |
| POU3F4 | Deafness, X-linked 2 |
| POU4F3 | Deafness, autosomal dominant 15 |
| PRPS1 | Deafness, X-linked 1; Charcot-Marie-Tooth disease, X-linked recessive, 5; Arts syndrome; Gout, PRPS-related |
| PTPRQ | Deafness, autosomal dominant 73; Deafness, autosomal recessive 84A |
| RDX | Deafness, autosomal recessive 24 |
| SERPINB6 | Deafness, autosomal recessive 91 |
| SIX1 | Deafness, autosomal dominant 23; Branchiootic syndrome 3 |
| SLC17A8 | Deafness, autosomal dominant 25 |
| SLC26A4 | Deafness, autosomal recessive 4, with enlarged vestibular aqueduct; Pendred syndrome |
| SLC26A5 | Deafness, autosomal recessive 61 |
| SMPX | Deafness, X-linked 4 |
| STRC | Deafness, autosomal recessive 16 |
| TECTA | Deafness, autosomal dominant 8/12; Deafness, autosomal recessive 21 |
| TJP2 | Cholestasis, progressive familial intrahepatic 4; Hypercholanemia, familial |
| TMC1 | Deafness, autosomal dominant 36; Deafness, autosomal recessive 7 |
| TMIE | Deafness, autosomal recessive 6 |
| TMPRSS3 | Deafness, autosomal recessive 8/10 |
| TPRN | Deafness, autosomal recessive 79 |
| TRIOBP | Deafness, autosomal recessive 28 |
| TRMU | Deafness, mitochondrial, modifier of; Liver failure, transient infantile |
| USH2A | Usher syndrome, type 2A; Retinitis pigmentosa 39 |
| USH1C | Usher syndrome, type 1C; Deafness, autosomal recessive 18A |
| USH1G | Usher syndrome, type 1G |
| WFS1 | Deafness, autosomal dominant 6/14/38; Cataract 41; Wolfram syndrome 1; Wolfram-like syndrome, autosomal dominant; Diabetes mellitus, noninsulin-dependent, association with |
| WHRN | Usher syndrome, type 2D |