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▍次世代定序(next-generation sequencing, NGS)
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NGS for HEARING LOSS

 

HEARING LOSS

Comprehensive Hearing Loss NGS Panel ( 179 Genes )
Title Phenotype Inheritance
ACTG1 baraitser-winter syndrome 2 AD
ACTG1 deafness, autosomal dominant 20/26 AD
ADCY1 ?deafness, autosomal recessive 44 AR
ACTB ?dystonia, juvenile-onset AD
ACTB baraitser-winter syndrome 1 AD
TFAP2A branchiooculofacial syndrome AD
COL4A3 alport syndrome 2, autosomal recessive AR
COL4A3 alport syndrome 3, autosomal dominant AD
COL4A3 hematuria, benign familial AD
COL4A4 alport syndrome 2, autosomal recessive AR
COL4A4 hematuria, familial benign AD
COL9A1 ?epiphyseal dysplasia, multiple, 6 AD
COL9A1 stickler syndrome, type iv  
COL9A3 {intervertebral disc disease, susceptibility to}  
COL9A3 epiphyseal dysplasia, multiple, 3, with or without myopathy AD
CACNA1D primary aldosteronism, seizures, and neurologic abnormalities AD
CACNA1D sinoatrial node dysfunction and deafness AR
COL2A1 achondrogenesis, type ii or hypochondrogenesis AD
COL2A1 avascular necrosis of the femoral head AD
COL2A1 czech dysplasia AD
COL2A1 epiphyseal dysplasia, multiple, with myopia and deafness AD
COL2A1 kniest dysplasia AD
COL2A1 legg-calve-perthes disease AD
COL2A1 osteoarthritis with mild chondrodysplasia AD
COL2A1 platyspondylic skeletal dysplasia, torrance type AD
COL2A1 sed congenita AD
COL2A1 smed strudwick type AD
COL2A1 spondyloepiphyseal dysplasia, stanescu type AD
COL2A1 spondyloperipheral dysplasia AD
COL2A1 stickler sydrome, type i, nonsyndromic ocular AD
COL2A1 stickler syndrome, type i AD
COL2A1 vitreoretinopathy with phalangeal epiphyseal dysplasia  
COL9A2 ?stickler syndrome, type v AR
COL9A2 epiphyseal dysplasia, multiple, 2 AD
CDC42 takenouchi-kosaki syndrome AD
COL11A1 ?deafness, autosomal dominant 37  
COL11A1 {lumbar disc herniation, susceptibility to}  
COL11A1 fibrochondrogenesis 1 AR
COL11A1 marshall syndrome AD
COL11A1 stickler syndrome, type ii AD
COL11A2 deafness, autosomal dominant 13 AD
COL11A2 deafness, autosomal recessive 53 AR
COL11A2 fibrochondrogenesis 2 AD, AR
COL11A2 otospondylomegaepiphyseal dysplasia, autosomal dominant AD
COL11A2 otospondylomegaepiphyseal dysplasia, autosomal recessive AR
CRYM deafness, autosomal dominant 40 AD
ERCC2 ?cerebrooculofacioskeletal syndrome 2 AR
ERCC2 trichothiodystrophy 1, photosensitive AR
ERCC2 xeroderma pigmentosum, group d AR
DSPP deafness, autosomal dominant 39, with dentinogenesis AD
DSPP dentin dysplasia, type ii AD
DSPP dentinogenesis imperfecta, shields type ii AD
DSPP dentinogenesis imperfecta, shields type iii AD
GJB2 bart-pumphrey syndrome AD
GJB2 deafness, autosomal dominant 3a AD
GJB2 deafness, autosomal recessive 1a AR, DD
GJB2 hystrix-like ichthyosis with deafness AD
GJB2 keratitis-ichthyosis-deafness syndrome AD
GJB2 keratoderma, palmoplantar, with deafness AD
GJB2 vohwinkel syndrome AD
EDN3 {hirschsprung disease, susceptibility to, 4} AD
EDN3 central hypoventilation syndrome, congenital AD
EDN3 waardenburg syndrome, type 4b AD, AR
GATA3 hypoparathyroidism, sensorineural deafness, and renal dysplasia AD
EDNRB {hirschsprung disease, susceptibility to, 2} AD
EDNRB abcd syndrome AR
EDNRB waardenburg syndrome, type 4a AD, AR
ERCC3 trichothiodystrophy 2, photosensitive AR
ERCC3 xeroderma pigmentosum, group b AR
GJA1 atrioventricular septal defect 3 AD
GJA1 craniometaphyseal dysplasia, autosomal recessive AR
GJA1 erythrokeratodermia variabilis et progressiva 3 AD
GJA1 hypoplastic left heart syndrome 1 AR
GJA1 oculodentodigital dysplasia AD
GJA1 oculodentodigital dysplasia, autosomal recessive AR
GJA1 palmoplantar keratoderma with congenital alopecia AD
GJA1 syndactyly, type iii AD
FGFR1 encephalocraniocutaneous lipomatosis, somatic mosaic  
FGFR1 hartsfield syndrome AD
FGFR1 hypogonadotropic hypogonadism 2 with or without anosmia AD
FGFR1 jackson-weiss syndrome AD
FGFR1 osteoglophonic dysplasia AD
FGFR1 pfeiffer syndrome AD
FGFR1 trigonocephaly 1 AD
HGF deafness, autosomal recessive 39 AR
HOXB1 facial paresis, hereditary congenital, 3 AR
MITF {melanoma, cutaneous malignant, susceptibility to, 8}  
MITF commad syndrome AR
MITF tietz albinism-deafness syndrome AD
MITF waardenburg syndrome, type 2a AD
MITF waardenburg syndrome/ocular albinism, digenic  
MYH9 deafness, autosomal dominant 17 AD
MYH9 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss AD
MET ?deafness, autosomal recessive 97 AR
MET {osteofibrous dysplasia, susceptibility to} AD
MET hepatocellular carcinoma, childhood type, somatic  
MET renal cell carcinoma, papillary, 1, familial and somatic  
FGF3 deafness, congenital with inner ear agenesis, microtia, and microdontia AR
SERPINB6 ?deafness, autosomal recessive 91 AR
KCNE1 jervell and lange-nielsen syndrome 2 AR
KCNE1 long qt syndrome 5 AD
FGFR2 antley-bixler syndrome without genital anomalies or disordered steroidogenesis AD
FGFR2 apert syndrome AD
FGFR2 beare-stevenson cutis gyrata syndrome AD
FGFR2 bent bone dysplasia syndrome AD
FGFR2 craniofacial-skeletal-dermatologic dysplasia AD
FGFR2 craniosynostosis, nonspecific  
FGFR2 crouzon syndrome AD
FGFR2 gastric cancer, somatic  
FGFR2 jackson-weiss syndrome AD
FGFR2 ladd syndrome AD
FGFR2 pfeiffer syndrome AD
FGFR2 saethre-chotzen syndrome AD
FGFR2 scaphocephaly and axenfeld-rieger anomaly  
FGFR2 scaphocephaly, maxillary retrusion, and mental retardation  
RDX deafness, autosomal recessive 24 AR
KITLG [skin/hair/eye pigmentation 7, blond/brown hair]  
KITLG deafness, autosomal dominant 69, unilateral or asymmetric AD
KITLG hyperpigmentation with or without hypopigmentation AD
TNC deafness, autosomal dominant 56 AD
ATP6V1B1 renal tubular acidosis with deafness AR
MYO7A deafness, autosomal dominant 11 AD
MYO7A deafness, autosomal recessive 2 AR
MYO7A usher syndrome, type 1b AR
POU3F4 deafness, x-linked 2 XLR
TBL1X hypothyroidism, congenital, nongoitrous, 8 XL
AIFM1 combined oxidative phosphorylation deficiency 6 XLR
AIFM1 cowchock syndrome XLR
AIFM1 deafness, x-linked 5 XLR
AIFM1 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy XLR
SMPX deafness, x-linked 4 XLD
TIMM8A mohr-tranebjaerg syndrome XLR
AMMECR1 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis XLR
COL4A6 ?deafness, x-linked 6 XLR
COL4A5 alport syndrome 1, x-linked XLD
PRPS1 arts syndrome XLR
PRPS1 charcot-marie-tooth disease, x-linked recessive, 5 XLR
PRPS1 deafness, x-linked 1 XL
PRPS1 gout, prps-related XLR
PRPS1 phosphoribosylpyrophosphate synthetase superactivity XLR
LRP2 donnai-barrow syndrome AR
EPS8 ?deafness, autosomal recessive 102 AR
NDP exudative vitreoretinopathy 2, x-linked XLD, XLR
NDP norrie disease XLR
LHX3 pituitary hormone deficiency, combined, 3 AR
HARS2 ?perrault syndrome 2 AR
P2RX2 deafness, autosomal dominant 41 AD
SMAD4 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome AD
SMAD4 myhre syndrome AD
SMAD4 pancreatic cancer, somatic  
SMAD4 polyposis, juvenile intestinal AD
MYO6 deafness, autosomal dominant 22 AD
MYO6 deafness, autosomal dominant 22, with hypertrophic cardiomyopathy AD
MYO6 deafness, autosomal recessive 37 AR
FOXI1 enlarged vestibular aqueduct AR
CLPP perrault syndrome 3 AR
SIX5 branchiootorenal syndrome 2  
SIX1 branchiootic syndrome 3 AD
SIX1 deafness, autosomal dominant 23 AD
PMP22 ?neuropathy, inflammatory demyelinating ?AD
PMP22 charcot-marie-tooth disease, type 1a AD
PMP22 charcot-marie-tooth disease, type 1e AD
PMP22 dejerine-sottas disease AD, AR
PMP22 neuropathy, recurrent, with pressure palsies AD
PMP22 roussy-levy syndrome AD
PEX6 heimler syndrome 2 AR
PEX6 peroxisome biogenesis disorder 4a (zellweger) AR
PEX6 peroxisome biogenesis disorder 4b AD, AR
EYA1 ?otofaciocervical syndrome AD
EYA1 anterior segment anomalies with or without cataract AD
EYA1 branchiootic syndrome 1 AD
EYA1 branchiootorenal syndrome 1, with or without cataracts AD
HSD17B4 d-bifunctional protein deficiency AR
HSD17B4 perrault syndrome 1 AR
TBX1 conotruncal anomaly face syndrome  
TBX1 digeorge syndrome AD
TBX1 tetralogy of fallot AD
TBX1 velocardiofacial syndrome AD
SNAI2 piebaldism AD
SNAI2 waardenburg syndrome, type 2d AR
PEX1 heimler syndrome 1 AR
PEX1 peroxisome biogenesis disorder 1a (zellweger) AR
PEX1 peroxisome biogenesis disorder 1b (nald/ird) AR
ESRRB deafness, autosomal recessive 35 AR
DIAPH1 deafness, autosomal dominant 1 AD
DIAPH1 seizures, cortical blindness, microcephaly syndrome AR
ROR1 ?deafness, autosomal recessive 108 AR
KCNJ10 enlarged vestibular aqueduct, digenic AR
KCNJ10 sesame syndrome AR
POU4F3 deafness, autosomal dominant 15 AD
SOX10 pcwh syndrome AD
SOX10 waardenburg syndrome, type 2e, with or without neurologic involvement AD
SOX10 waardenburg syndrome, type 4c AD
MYO15A deafness, autosomal recessive 3 AR
TECTA deafness, autosomal dominant 8/12 AD
TECTA deafness, autosomal recessive 21 AR
ADGRV1 ?febrile seizures, familial, 4 AD
ADGRV1 usher syndrome, type 2c AR, DD
ADGRV1 usher syndrome, type 2c, gpr98/pdzd7 digenic AR, DD
COCH ?deafness, autosomal recessive 110 AR
COCH deafness, autosomal dominant 9 AD
CD164 ?deafness, autosomal dominant 66 AD
GJB3 deafness, autosomal dominant 2b AD
GJB3 deafness, autosomal dominant, with peripheral neuropathy  
GJB3 deafness, autosomal recessive  
GJB3 deafness, digenic, gjb2/gjb3 AR, DD
GJB3 erythrokeratodermia variabilis et progressiva 1 AD, AR
CDC14A deafness, autosomal recessive 32, with or without immotile sperm AR
PTPRQ deafness, autosomal dominant 73 AD
PTPRQ deafness, autosomal recessive 84a AR
EYA4 ?cardiomyopathy, dilated, 1j AD
EYA4 deafness, autosomal dominant 10 AD
BCS1L bjornstad syndrome AR
BCS1L gracile syndrome AR
BCS1L leigh syndrome AR, Mi
BCS1L mitochondrial complex iii deficiency, nuclear type 1 AR
KCNQ4 deafness, autosomal dominant 2a AD
SLC19A2 thiamine-responsive megaloblastic anemia syndrome AR
OTOG deafness, autosomal recessive 18b AR
GJB6 deafness, autosomal dominant 3b AD
GJB6 deafness, autosomal recessive 1b AR
GJB6 deafness, digenic gjb2/gjb6 AR, DD
GJB6 ectodermal dysplasia 2, clouston type AD
LARS2 ?hydrops, lactic acidosis, and sideroblastic anemia AR
LARS2 perrault syndrome 4 AR
OTOF auditory neuropathy, autosomal recessive, 1 AR
OTOF deafness, autosomal recessive 9 AR
HOMER2 ?deafness, autosomal dominant 68 AD
ANKH chondrocalcinosis 2 AD
ANKH craniometaphyseal dysplasia AD
S1PR2 deafness, autosomal recessive 68 AR
OPA1 ?mitochondrial dna depletion syndrome 14 (encephalocardiomyopathic type)  
OPA1 {glaucoma, normal tension, susceptibility to}  
OPA1 behr syndrome AR
OPA1 optic atrophy 1 AD
OPA1 optic atrophy plus syndrome AD
SLC26A5 ?deafness, autosomal recessive 61 AR
DIABLO deafness, autosomal dominant 64 AD
USH1C deafness, autosomal recessive 18a AR
USH1C usher syndrome, type 1c AR
CIB2 deafness, autosomal recessive 48 AR
CIB2 usher syndrome, type ij AR
TMPRSS3 deafness, autosomal recessive 8/10 AR
PCDH15 deafness, autosomal recessive 23 AR
PCDH15 usher syndrome, type 1d/f digenic AR, DR
PCDH15 usher syndrome, type 1f AR
CDH23 {pituitary adenoma 5, multiple types} AD
CDH23 deafness, autosomal recessive 12 AR
CDH23 usher syndrome, type 1d AR, DR
CDH23 usher syndrome, type 1d/f digenic AR, DR
CLDN14 deafness, autosomal recessive 29 AR
SLC26A4 deafness, autosomal recessive 4, with enlarged vestibular aqueduct AR
SLC26A4 pendred syndrome AR
TWNK mitochondrial dna depletion syndrome 7 (hepatocerebral type) AR
TWNK perrault syndrome 5 AR
TWNK progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 AD
WFS1 ?cataract 41 AD
WFS1 {diabetes mellitus, noninsulin-dependent, association with} AD
WFS1 deafness, autosomal dominant 6/14/38 AD
WFS1 wolfram syndrome 1 AR
WFS1 wolfram-like syndrome, autosomal dominant AD
DCDC2 ?deafness, autosomal recessive 66 AR
DCDC2 nephronophthisis 19 AR
DCDC2 sclerosing cholangitis, neonatal AR
BSND bartter syndrome, type 4a AR
BSND sensorineural deafness with mild renal dysfunction AR
CLRN1 retinitis pigmentosa 61  
CLRN1 usher syndrome, type 3a AR
STRC deafness, autosomal recessive 16 AR
ESPN ?usher syndrome, type 1m AR
ESPN deafness, autosomal recessive 36 AR
ESPN deafness, neurosensory, without vestibular involvement, autosomal dominant AR
TMC1 deafness, autosomal dominant 36 AD
TMC1 deafness, autosomal recessive 7 AR
OSBPL2 deafness, autosomal dominant 67 AD
MYO3A deafness, autosomal recessive 30 AR
ALMS1 alstrom syndrome AR
BDP1 ?deafness, autosomal recessive 112 AR
OTOA deafness, autosomal recessive 22 AR
NLRP3 cinca syndrome AD
NLRP3 deafness, autosomal dominant 34, with or without inflammation AD
NLRP3 familial cold inflammatory syndrome 1 AD
NLRP3 keratoendothelitis fugax hereditaria AD
NLRP3 muckle-wells syndrome AD
TYR [skin/hair/eye pigmentation 3, blue/green eyes] AD
TYR [skin/hair/eye pigmentation 3, light/dark/freckling skin] AD
TYR {melanoma, cutaneous malignant, susceptibility to, 8} AD
TYR albinism, oculocutaneous, type ia AR
TYR albinism, oculocutaneous, type ib  
TYR waardenburg syndrome/albinism, digenic  
TMIE deafness, autosomal recessive 6 AR
TCOF1 treacher collins syndrome 1 AD
CLIC5 ?deafness, autosomal recessive 103 AR
CABP2 deafness, autosomal recessive 93 AR
PAX3 craniofacial-deafness-hand syndrome AD
PAX3 rhabdomyosarcoma 2, alveolar SMu
PAX3 waardenburg syndrome, type 1 AD
PAX3 waardenburg syndrome, type 3 AD, AR
SLC17A8 deafness, autosomal dominant 25 AD
USH1G usher syndrome, type 1g AR
SLC52A2 brown-vialetto-van laere syndrome 2 AR
TJP2 cholestasis, progressive familial intrahepatic 4 AR
TJP2 hypercholanemia, familial AR
WHRN deafness, autosomal recessive 31 AR
WHRN usher syndrome, type 2d AR
NF2 meningioma, nf2-related, somatic  
NF2 neurofibromatosis, type 2 AD
NF2 schwannomatosis, somatic  
SEMA3E ?charge syndrome AD
CHSY1 temtamy preaxial brachydactyly syndrome AR
USH2A retinitis pigmentosa 39  
USH2A usher syndrome, type 2a AR
GRHL2 corneal dystrophy, posterior polymorphous, 4 AD
GRHL2 deafness, autosomal dominant 28 AD
GRHL2 ectodermal dysplasia/short stature syndrome AR
MYH14 ?peripheral neuropathy, myopathy, hoarseness, and hearing loss AD
MYH14 deafness, autosomal dominant 4a AD
GIPC3 deafness, autosomal recessive 15 AR
GSDME deafness, autosomal dominant 5 AD
CHD7 charge syndrome AD
CHD7 hypogonadotropic hypogonadism 5 with or without anosmia AD
BTD biotinidase deficiency AR
GPSM2 chudley-mccullough syndrome AR
KCNQ1 {long qt syndrome 1, acquired, susceptibility to} AD
KCNQ1 atrial fibrillation, familial, 3 AD
KCNQ1 jervell and lange-nielsen syndrome AR
KCNQ1 long qt syndrome 1 AD
KCNQ1 short qt syndrome 2 AD
LHFPL5 deafness, autosomal recessive 67 AR
MANBA mannosidosis, beta AR
SLITRK6 deafness and myopia AR
ILDR1 deafness, autosomal recessive 42 AR
POLR1C leukodystrophy, hypomyelinating, 11 AR
POLR1C treacher collins syndrome 3 AR
TRIOBP deafness, autosomal recessive 28 AR
SLC4A11 corneal dystrophy, fuchs endothelial, 4  
SLC4A11 corneal endothelial dystrophy and perceptive deafness AR
SLC4A11 corneal endothelial dystrophy, autosomal recessive AR
PJVK deafness, autosomal recessive 59 AR
PNPT1 combined oxidative phosphorylation deficiency 13 AR
PNPT1 deafness, autosomal recessive 70 AR
MARVELD2 deafness, autosomal recessive 49 AR
CCDC50 ?deafness, autosomal dominant 44 AD
CISD2 wolfram syndrome 2 AR
MIR96 deafness, autosomal dominant 50 AD
LRTOMT deafness, autosomal recessive 63 AR
NARS2 ?deafness, autosomal recessive 94 AR
NARS2 combined oxidative phosphorylation deficiency 24 AR
TSPEAR ?deafness, autosomal recessive 98 AR
TSPEAR ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis AR
PDZD7 {retinal disease in usher syndrome type iia, modifier of} AR
PDZD7 deafness, autosomal recessive 57 AR
PDZD7 usher syndrome, type iic, gpr98/pdzd7 digenic AR, DD
LOXHD1 deafness, autosomal recessive 77 AR
GRXCR1 deafness, autosomal recessive 25 AR
TPRN deafness, autosomal recessive 79 AR
SLC52A3 ?fazio-londe disease AR
SLC52A3 brown-vialetto-van laere syndrome 1 AR
ASAH1 farber lipogranulomatosis AR
ASAH1 spinal muscular atrophy with progressive myoclonic epilepsy AR
ABHD12 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract AR
TBC1D24 deafness , autosomal recessive 86 AR
TBC1D24 deafness, autosomal dominant 65 AD
TBC1D24 doors syndrome AR
TBC1D24 epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp AR
TBC1D24 epileptic encephalopathy, early infantile, 16 AR
TBC1D24 myoclonic epilepsy, infantile, familial AR
MSRB3 deafness, autosomal recessive 74 AR
POLR1D treacher collins syndrome 2 AD, AR
CEACAM16 deafness, autosomal dominant 4b AD
CEACAM16 deafness, autosomal recessive 113 AR
DIAPH3 auditory neuropathy, autosomal dominant, 1 AD
OTOGL deafness, autosomal recessive 84b AR
SYNE4 deafness, autosomal recessive 76 AR
ELMOD3 ?deafness, autosomal recessive 88 AR
GRXCR2 ?deafness, autosomal recessive 101 AR
TMEM132E ?deafness, autosomal recessive 99 AR
CEP78 cone-rod dystrophy and hearing loss AR
CATSPER2 DEAFNESS-INFERTILITY SYNDROME  
CRYL1    
HARS Charcot-Marie-Tooth disease, axonal, type 2W AD
HARS Usher syndrome type 3B AR
KARS ?Charcot-Marie-Tooth disease, recessive intermediate, B AR
KARS Deafness, autosomal recessive 89 AR
MYO1C    
RIPOR2 ?Deafness, autosomal recessive 104 AR
TMPRSS5 sporadic hearing loss  
 

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