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
DFNB31 Deafness, autosomal recessive 31
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
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