Genomics Precision Diagnostic > Ear, Nose, Throat Precision Panel > Syndromic and Nonsyndromic Deafness Panel

Syndromic and Nonsyndromic Deafness Precision Panel

Hearing loss can be defined as conductive or sensorineural. Conductive hearing loss occurs due to dysfunction of the outer or middle ear, which prevents transmission of sound waves from reaching the inner ear.

Overview

Hearing loss can be defined as conductive or sensorineural. Conductive hearing loss occurs due to dysfunction of the outer or middle ear, which prevents transmission of sound waves from reaching the inner ear. Sensorineural hearing loss, on the other hand, is the result of inner ear or auditory nerve dysfunction preventing neuronal transmission to the brain. In developed countries, approximately 1/1,000 children have severe or profound hearing loss at birth or during childhood. In most cases, hearing loss is a multifactorial disorder caused by genetic and environmental factors. Clinically, it has many different presentations, from mild to profound, including low and high-pitch patterns. Non-syndromic forms are responsible for about 70% of the cases of hereditary etiology and syndromic cases represent 30% of them. Among the patterns of inheritance, autosomal recessive remains the most common form of inheritance, although it can be autosomal dominant, X-linked or mitochondrial.
The Igenomix Syndromic and Nonsyndromic Deafness Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of hearing loss ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Syndromic and Nonsyndromic Deafness Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Difficulty understanding words
- Muffling of speech and other sounds
- Trouble hearing consonants
- Needing to turn up the volume of the television or radio
- Associated syndromic features at birth: cardiac findings, renal findings, neurologic abnormalities, skeletal examination findings, craniofacial abnormalities etc
- Withdrawal from conversations
- Avoidance from social settings

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team in the form surgical care of external and middle ear deformities, cochlear implantation and medical care for treatment of middle ear disease, amplification and assistive listening devices.
Early implementation of speech and language therapy.
Risk assessment and genetic counselling of asymptomatic family members due to the autosomal dominant mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

Genes & Diseases

See all genes and diseases

Gene	OMIM Diseases	Inheritance*	% Gene Coverage (20x)	HGMD**
*ABCC1*	AutosomalDominant Deafness	AD	98.02	5 of 5
*ABHD12*	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	AR	95.77	21 of 21
*ACTB*	Baraitser-Winter Syndrome, Becker Nevus Syndrome, Developmental Malformations- Deafness- Dystonia Syndrome	AD	100	40 of 40
*ACTG1*	Autosomal Dominant Deafness, Baraitser- Winter Cerebrofrontofacial Syndrome	AD	98.59	55 of 55
*ADCY1*	Autosomal Recessive Deafness	AR	96.91	1 of 1
*ADGRV1*	Familial Febrile Convulsions, Usher Syndrome	AD,AR	97.53	–
*AIFM1*	Combined Oxidative Phosphorylation Deficiency, Cowchock Syndrome, X-linked Deafness, Spondyloe- pimetaphyseal Dysplasia, Severe X- Mitochondrial Encephalomyopathy, X-linked Charcot- Marie-Tooth Disease	X,XR,G	100	–
*ANKH*	Craniometaphyseal Dysplasia, Familial Calcium Pyrophosphate Deposition	AD	100	19 of 19
*AP1B1*	Ichthyosiform Erythroderma, Corneal Involvement, And Deafness, Mednik Syndrome	AR	100	5 of 5
*AP1S1*	Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma, Mednik Syndrome	AR	99.98	2 of 2
*ATP1A3*	Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	AD	99.94	138 of 138
*ATP2B2*	AutosomalRecessive Deafness	AR	100	12 of 12
*ATP6V0A4*	Distal Renal Tubular Acidosis, With Or Without Sensorineural Hearing Loss	AR	100	85 of 85
*ATP6V1B1*	Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness	AR	100	62 of 62
*ATP6V1B2*	Autosomal Dominant Deafness-Onychodystrophy Syndrome, Zimmermann- Laband Syndrome	AD	100	5 of 5
*BCAP31*	Deafness, Dystonia, And Cerebral Hypomyelination, Severe Motor And Intellectual Disabilities- Sensorineural Deafness-Dystonia Syndrome	X,XR,G	100	–
*BCS1L*	BjornstadSyndrome, GracileSyndrome, Leigh Syndrome, MitochondrialComplex III Deficiency	AR,MI	99.96	40 of 42
*BDP1*	Autosomal Recessive Deafness	AR	99.3	1 of 1
*BSND*	Bartter Syndrome, Infantile, With Sensorineural Deafness	AR	99.95	21 of 21
*BTD*	BiotinidaseDeficiency MultipleCarboxylase Deficiency, Late-Onset, BiotinidaseDeficiency	AR	100	261 of 262
*CABP2*	Autosomal Recessive Deafness	AR	99.95	7 of 7
*CACNA1D*	Primary Aldosteronism, Seizures, And Neurologic Abnormalities, Sinoatrial Node Dysfunction And Deafness	AD,AR	100	18 of 18
*CATSPER2*	Sensorineural Deafness And Male Infertility	AR	99.87	1 of 1
*CCDC50*	Autosomal Dominant Deafness	AD	99.98	5 of 5
*CD151*	Nephropathy With Pretibial Epidermolysis Bullosa And Deafness	AR	100	3 of 3
*CD164*	Autosomal DominantDeafness	AD	100	1 of 1
*CDC14A*	Autosomal RecessiveDeafness	AR	99.76	11 of 11
*CDH23*	Autosomal Recessive Deafness, Usher Syndrome	AD,AR	98	400 of 403
*CDKN1C*	Beckwith- Wiedemann Syndrome, Image Syndrome	AD	73.58	55 of 76
*CEACAM16*	Autosomal Dominant Deafness, Autosomal Recessive Deafness	AD,AR	99.81	7 of 7
*CEP250*	Cone-Rod Dystrophy And Hearing Loss	AR	99.98	7 of 7
*CEP78*	Cone-Rod Dystrophy And Hearing Loss, Usher Syndrome	AR	99.44	9 of 10
*CHD7*	Charge Syndrome, Charge Syndrome, Omenn Syndrome	AD	96.25	823 of 896
*CHSY1*	TemtamyPreaxial Brachydactyly Syndrome	AR	96.64	13 of 16
*CIB2*	Autosomal Recessive Deafness, Usher Syndrome	AR	99.95	16 of 17
*CISD2*	Wolfram Syndrome	AR	92.92	5 of 5
*CLDN14*	AutosomalRecessive Deafness	AR	100	17 of 17
*CLIC5*	AutosomalRecessive Deafness	AR	99.91	2 of 2
*CLPP*	Perrault Syndrome	AR	99.91	11 of 11
*CLRN1*	Retinitis Pigmentosa, Usher Syndrome	AD,AR,X,XR,G	99.99	40 of 41
*COCH*	Autosomal Dominant Deafness, Autosomal Recessive Deafness	AD,AR	99.92	31 of 31
*COL11A1*	Autosomal Dominant Deafness, Marshall Syndrome, Stickler Syndrome	AD,AR	100	104 of 106
*COL11A2*	Autosomal Dominant Deafness, Nonsyndromic Sensorineural Deafness, Stickler Syndrome,	AD,AR	99.98	58 of 58
*COL2A1*	Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness, Legg-Calve-Perthes Disease Stickler Syndrome	AD,MU	100	583 of 583
*COL4A3*	Alport Syndrome	AD,AR	100	277 of 280
*COL4A4*	Alport Syndrome	AD,AR	99.95	247 of 251
*COL4A5*	Alport Syndrome	X,XD,G	99.88	–
*COL4A6*	X-linked Deafness	X,XR,G	98.72	–
*COL9A1*	Stickler Syndrome, Multiple Epiphyseal Dysplasia Due To Collagen Anomaly	AD,AR	99.98	8 of 8
*COL9A2*	Stickler Syndrome, Multiple Epiphyseal Dysplasia Due To Collagen Anomaly	AD,AR	100	16 of 16
*COL9A3*	Stickler Syndrome, Multiple Epiphyseal Dysplasia Due To Collagen Anomaly	AD	99.98	20 of 20
*CRYM*	AutosomalDominant Deafness	AD	96	4 of 4
*DACT1*	Townes-Brocks Syndrome, Craniorachischisis	AD	98.12	8 of 9
*DCAF17*	Woodhouse- SakatiSyndrome	AR	98.77	21 of 21
*DCDC2*	Autosomal Recessive Deafness	AR	99.83	8 of 8
*DIABLO*	Autosomal Dominant Deafness	AD	100	2 of 2
*DIAPH1*	Autosomal Dominant Nonsyndromic Sensorineural Deafness	AD,AR	99.94	15 of 15
*DIAPH3*	Auditory Neuropathy	AD	99.96	7 of 9
*DLX5*	Split-Hand/Foot Malformation With Sensorineural Hearing Loss	AD,AR	99.98	8 of 8
*DMXL2*	Autosomal Dominant Deafness	AD,AR	99.83	19 of 23
*DNAJC3*	Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	AR	99.75	1 of 4
*DNMT1*	Cerebellar Ataxia, Deafness, And Narcolepsy, Hereditary Sensory Neuropathy	AD	97.87	30 of 30
*DSPP*	Autosomal Dominant Deafness	AD	99.4	56 of 56
*EDN3*	Waardenburg Syndrome, OndineSyndrome	AD,AR	100	20 of 22
*EDNRB*	Abcd Syndrome, Waardenburg-Shah Syndrome, Waardenburg Syndrome	AD,AR	99.55	70 of 72
*EEF1AKNMT*	Autosomal Recessive Deafness	AD	99.48	–
*ELMOD3*	AutosomalRecessive Deafness	AR	99.97	2 of 2
*EPS8*	AutosomalRecessive Deafnes	AR	99.97	3 of 3
*EPS8L2*	AutosomalRecessive Deafness	AR	99.27	3 of 3
*ESPN*	Autosomal Recessive Deafness With Or Without Vestibular Involvement, Usher Syndrome	AR	98.22	22 of 22
*ESRP1*	AutosomalRecessive Deafness	AR	99.95	2 of 2
*ESRRB*	AutosomalRecessive Deafness	AR	100	22 of 22
*EXOSC2*	Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies;	AR	100	3 of 3
*EYA1*	Branchiootic Syndrome, Branchiootorenal Syndrome, Otofaciocervical Syndrome	AD	100	197 of 199
*EYA4*	Autosomal Dominant Deafness Nonsyndromic, Sensorineural Deafness With Dilated Cardiomyopathy	AD	100	32 of 32
*FDXR*	Auditory Neuropathy And Optic Atrophy, Optic Atrophy-Ataxia- Peripheral Neuropathy- Global Developmental Delay Syndrome	AR	99.93	23 of 23
*FGF3*	Congenital Deafness, With Inner Ear Agenesis, Microtia, And Microdontia, Deafness With Labyrinthine Aplasia, Microtia, And Microdontia, Otodental Syndrome	AR	99.81	18 of 18
*FGF9*	Multiple Synostoses Syndrome	AD	100	2 of 2
*FGFR1*	Hartsfield Syndrome, Jackson-Weiss Syndrome, Pfeiffer Syndrome, Septo-Optic Dysplasia Spectrum	AD	100	279 of 280
*FGFR2*	Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis, Apert Syndrome, Crouzon Syndrome, Jackson-Weiss Syndrome, Lacrimoauriculo- dentodigital Syndrome, Saethre-Chotzen Syndrome	AD	98	140 of 143
*FGFR3*	Camptodactyly, Tall Stature, And Hearing Loss Syndrome, Muenke Syndrome	AD,AR	99.89	77 of 78
*FKBP14*	Ehlers-Danlos Syndrome With Progressive Kyphoscoliosis, Myopathy,and Hearing Loss	AR	99.98	7 of 8
*FOXI1*	Enlarged Vestibular Aqueduct, Pendred Syndrome	AR	100	11 of 11
*GAB1*	Autosomal Recessive Deafness	AR	99.84	4 of 5
*GATA2*	Deafness-Lymphedema- LeukemiaSyndrome	AD	100	137 of 142
*GATA3*	Hypoparathyroidism, Sensorineural Deafness, And Renal Disease	AD	100	81 of 81
*GDF5*	MultipleSynostoses Syndrome	AD,AR	99.48	48 of 51
*GFER*	Mitochondrial Progressive Myopathy With Congenital Cataract, Hearing Loss, And Developmental Delay	AR	99.89	6 of 6
*GIPC3*	Autosomal Recessive Deafness	AR	92.04	21 of 22
*GJA1*	Oculodentodigital Dysplasia, Craniometaphyseal Dysplasia	AD,AR,MU,O	100	119 of 119
*GJB2*	Autosomal Dominant Nonsyndromic Sensorineural Deafness, Autosomal Recessive Deafness, Congenital Deafness With Keratopachydermia And Constrictions Offingers And Toes, Palmoplantar Keratoderma- Deafness Syndrome	AD,AR,X,XR,MU,D,G	99.89	413 of 419
*GJB3*	Autosomal Dominant Deafness, Autosomal Recessive Deafness	AD,AR,MU,D	100	39 of 39
*GJB6*	Autosomal Dominant Deafness, Autosomal Recessive Deafness, Kid Syndrome	AD,AR,X,XR,MU,D,G	99.89	28 of 28
*GPRASP2*	X-linkedDeafness	X,XR,G	92.99	–
*GPSM2*	Chudley-Mccullough Syndrome	AR	100	13 of 13
*GRAP*	AutosomalRecessive Deafness	AR	65.67	1 of 1
*GRHL2*	Corneal Dystrophy, Posterior Polymorphous, Autosomal Dominant Nonsyndromic Sensorineural Deafnes	AD,AR	100	8 of 11
*GRXCR1*	Autosomal Recessive Deafness	AR	100	10 of 10
*GRXCR2*	AutosomalRecessive Deafness,	AR	99.94	2 of 2
*GSDME*	AutosomalDominant Nonsyndromic Sensorineural	AD	100	–
*HARS1*	Charcot-Marie- Tooth Disease, Usher Syndrome	AD,AR	100	–
*HARS2*	Perrault Syndrome	AR	100	3 of 3
*HGF*	Congenital Neurosensory Autosomal Recessive Deafness	AR	100	18 of 20
*HOMER2*	AutosomalDominant Deafness	AD	99.98	2 of 2
*HOXB1*	Facial Paresis, Hereditary Congenital	AR	98.81	6 of 6
*HSD17B4*	Perrault Syndrome	AR	99.52	85 of 85
*IARS2*	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	AR	99.95	11 of 11
*IGF1*	Growth Delay Due To Insulin-like Growth Factor Type 1 Deficiency	AR	100	7 of 8
*ILDR1*	Autosomal Recessive Neurosensory Deafness	AR	100	31 of 31
*KARS1*	Charcot-Marie-Tooth Disease, Autosomal Recessive Deafness	AR	100	34 of 34
*KCNE1*	Jervell And Lange-Nielsen Syndrome, Jervell And Lange-Nielsen Syndrome, Romano-Ward Syndrome	AD,AR	100	53 of 53
*KCNJ10*	Enlarged Vestibular Aqueduct, Pendred Syndrome, Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, East Syndrome	AR	93.53	27 of 32
*KCNQ1*	Beckwith-Wiedemann Syndrome, Jervell And Lange-Nielsen Syndrome, Romano- Ward Syndrome	AD,AR	93.23	600 of 624
*KCNQ4*	AutosomalDominant Deafness	AD	93.09	45 of 46
*KIT*	Mast Cell Disease, Systemic Mastocytosis With Associated Hematologic Neoplasm	AD	100	112 of 112
*KITLG*	Autosomal Dominant Deafness , Waardenburg Syndrome	AD	99.93	10 of 10
*LARS2*	Hydrops, Lactic Acidosis, And Sideroblastic Anemia, Perrault Syndrome	AR	99.99	20 of 20
*LHFPL5*	AutosomalRecessive Deafness	AR	100	17 of 17
*LHX3*	Sensorineural Deafness, With Pituitary Dwarfism, Hypothyroidism	AR	99.97	18 of 19
*LMX1A*	Autosomal Dominant Nonsyndromic Sensorineural Deafness	AD	100	4 of 4
*LOXHD1*	AutosomalRecessive Deafness	AR	99.98	97 of 97
*LRP2*	Donnai-Barrow Syndrome	AR	99.99	58 of 58
*LRTOMT*	AutosomalRecessive Deafness	AR	94.7	20 of 21
*MAF*	Ayme-Gripp Syndrome, Cataract-Microcornea Syndrome	AD	75.14	23 of 23
*MAFB*	Duane Retraction Syndrome With Or Without Deafness	AD	98.63	24 of 24
*MAN2B1*	Alpha-Mannosidosis, InfantileForm	AR	100	149 of 149
*MANBA*	Beta-Mannosidosis	AR	99.98	20 of 20
*MAP3K7*	Cardiospondy locarpofacial Syndrome, Frontometaphyseal Dysplasia	AD	99.96	13 of 13
*MARVELD2*	AutosomalRecessive Deafness	AR	100	18 of 19
*MCM2*	AutosomalDominant Deafness	AD	100	1 of 1
*MET*	AutosomalRecessive Deafness	AD,AR	99.8	41 of 41
*MGP*	KeutelSyndrome	AR	99.93	7 of 7
*MIR96*	AutosomalDominant Deafness	AD	–	–
*MITF*	Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness, TietzSyndrome, Waardenburg Syndrome	AD,AR	100	72 of 72
*MPZL2*	AutosomalRecessive Deafness	AR	100	4 of 4
*MSRB3*	AutosomalRecessive Deafness	AR	100	4 of 4
*MYH14*	Autosomal Dominant Nonsyndromic Sensorineural Deafness, Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	AD	99.97	52 of 52
*MYH9*	Autosomal Dominant Nonsyndromic Sensorineural Deafness	AD	100	144 of 145
*MYO15A*	Deafness, Neurosensory, Autosomal Recessive Neurosensory Deafness	AR	99.12	306 of 307
*MYO3A*	AutosomalRecessive Deafness	AR	99.67	21 of 21
*MYO6*	Autosomal Dominant Deafness, Autosomal Recessive Deafness	AD,AR	100	74 of 75
*MYO7A*	Autosomal Dominant Nonsyndromic Sensorineural Deafness, Autosomal Recessive Neurosensory Deafness, Usher Syndrome	AD,AR	100	579 of 580
*NARS2*	Combined Oxidative Phosphorylation Deficiency, Autosomal Recessive Deafness	AR	99.63	13 of 13
*NDP*	Norrie Disease, Coats Disease	X,XR,G	100	NA of NA
*NLRP3*	Cinca Syndrome, Autosomal Dominant Deafness, Muckle- Wells Syndrome, Cinca Syndrome	AD	100	152 of 152
*NOG*	Multiple Synostoses Syndrome, Proximal Symphalangism, Tarsal-Carpal Coalition Syndrome	AD	99.89	61 of 62
*OPA1*	Behr Syndrome, Mitochondrial DNA Depletion Syndrome, Optic Atrophy With Or Without Deafness	AD,AR	99.98	397 of 402
*OSBPL2*	AutosomalDominant Deafness	AD	99.98	4 of 4
*OTOA*	AutosomalRecessive Deafness	AR	79.48	34 of 36
*OTOF*	AutosomalRecessive Deafness	AR	100	200 of 200
*OTOG*	Autosomal Recessive Deafness	AR	99.95	11 of 11
*OTOGL*	Autosomal Recessive Deafness	AR	98.52	20 of 24
*P2RX2*	AutosomalDominant Deafness	AD	99.14	4 of 4
*PAX3*	Craniofacial-Deafness- Hand Syndrome, Waardenburg Syndrome	AD,AR	99.98	157 of 157
*PBX1*	Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss	AD	98	18 of 18
*PCDH15*	Autosomal Recessive Deafness, Usher Syndrome	AR	99.36	152 of 158
*PDE1C*	AutosomalDominant Deafness	AD	99.98	1 of 1
*PDZD7*	Autosomal Recessive Deafness, Usher Syndrome	AR	100	28 of 28
*PEX1*	Sensorineural Hearing Loss, With Enamel Hypoplasia And Nail Defects, Zellweger Syndrome, Infantile Refsum Disease	AR	97.02	126 of 134
*PEX26*	Infantile Refsum Disease , Neonatal Adrenoleukodystrophy, Zellweger Syndrome	AR	100	29 of 29
*PEX6*	Heimler Syndrome, Autosomal Recessive Spinocerebellar Ataxia- Blindness-Deafness Syndrome, Zellweger Syndrome	AD,AR	99.94	105 of 108
*PJVK*	AutosomalRecessive Deafnes	AR	100	–
*PLOD3*	Bone Fragility With Contractures, Arterial Rupture, And Deafness	AR	100	6 of 6
*PLS1*	AutosomalDominant Deafness	AD	99.92	5 of 5
*PMP22*	Charcot-Marie-Tooth Disease And Deafness	AD,AR	97.82	110 of 110
*PNPT1*	Combined Oxidative Phosphorylation Deficiency, Autosomal Recessive Deafness	AR	99.93	26 of 26
*POLD1*	Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	AD	100	40 of 41
*POLR1A*	Choanal Atresia-Hearing Loss-Cardiac Defects- Craniofacial Dysmorphism Syndrome	AD	99.8	6 of 6
*POLR1C*	Mandibulofacial Dysostosis, Treacher-Collins Syndrome	AR	99.99	35 of 35
*POLR1D*	Treacher Collins Syndrome	AD,AR	100	23 of 23
*POU3F4*	X-linked Deafness, Xq21 Microdeletion Syndrome	X,XR,G	99.98	–
*POU4F3*	AutosomalDominant Deafness	AD	100	36 of 36
*PPIP5K2*	AutosomalRecessive Deafness	AR	97.86	4 of 4
*PRPS1*	Arts Syndrome, Charcot-Marie-Tooth Disease, X-linked Deafness, Lethal Ataxia With Deafness And Optic Atrophy	X,XR,G	100	–
*PTPRQ*	Autosomal Dominant Deafness, Autosomal Recessive Deafness	AD,AR	94.47	33 of 34
*RDX*	AutosomalRecessive Deafness	AR	99.99	14 of 14
*REST*	AutosomalDominant Deafness	AD	99.83	15 of 16
*RIPOR2*	AutosomalRecessive Deafness	AR	96.14	–
*RMND1*	Combined Oxidative Phosphorylation Deficiency	AR	99.67	15 of 16
*ROR1*	AutosomalRecessive Deafness	AR	97.2	2 of 2
*RPGR*	Retinitis Pigmentosa And Sinorespiratory Infections Withor Without Deafness	X,XR,G	94	–
*RPS6KA3*	Coffin-Lowry Syndrome	X,XD,G	99.95	–
*S1PR2*	AutosomalRecessive Deafness	AR	100	3 of 3
*SALL1*	Townes-Brocks Syndrome	AD	100	85 of 86
*SALL4*	Duane-Radial Ray Syndrome, Ivic Syndrome, Acro-Renal-Ocular Syndrome	AD	100	54 of 54
*SEMA3E*	Charge Syndrome	AD,AR	99.81	6 of 7
*SERAC1*	3-a Methylglutaconic Aciduria With Deafness	AR	99.93	53 of 53
*SERPINB6*	AutosomalRecessive Deafness	AR	100	3 of 3
*SIX1*	Branchiootic Syndrome, Branchiootorenal Syndrome, Autosomal Dominant Deafness	AD	73	20 of 20
*SIX5*	Branchiootorenal Syndrome	AD	93.16	11 of 11
*SLC12A1*	Bartter Syndrome	AR	99	90 of 95
*SLC17A8*	Deafness, Autosomal DominantDeafness	AD	100	8 of 8
*SLC19A2*	Thiamine-Responsive Megaloblastic Anemia Syndrome	AR	99.99	67 of 68
*SLC26A4*	Enlarged Vestibular Aqueduct, Pendred Syndrome	AR	100	577 of 581
*SLC26A5*	AutosomalRecessive Deafness	AR	100	9 of 9
*SLC29A3*	Histiocytosis- Lymphadenopathy Plus Syndrome, Dysosteosclerosis	AR	100	32 of 32
*SLC33A1*	Congenital Cataracts, Hearing Loss, And Neurodegeneration	AD,AR	99.44	9 of 9
*SLC44A4*	AutosomalDominant Deafness	AD	99.69	–
*SLC4A11*	Corneal Endothelial Dystrophy And Perceptive Deafness Syndrome	AD,AR	99.98	108 of 109
*SLC52A2*	Brown-Vialetto-Van Laere Syndrome, Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	AR	100	31 of 32
*SLC52A3*	Progressive Bulbar Palsy With Sensorineural Deafness	AR	100	43 of 43
*SLITRK6*	Cochlear Deafness With Myopia And Intellectual Impairment	AR	99.52	9 of 9
*SMAD4*	Myhre Syndrome, Generalized Juvenile Polyposis/Juvenile Polyposis Coli	AD	99.56	136 of 136
*SMPX*	X-linkedDeafness	X,XD,G	100	–
*SNAI2*	Waardenburg Syndrome	AD,AR	99.79	1 of 2
*SOX10*	Peripheral Demyelinating Neuropathy, Waardenburg Syndrome	AD	99.74	139 of 147
*SOX2*	Anophthalmia/ Microphthalmia- Esophageal Atresia Syndrome, Septo- opticDysplasia Spectrum	AD	99.91	78 of 78
*SPATA5*	Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy- Abnormal Muscle Tone Syndrome	AR	99.83	30 of 30
*SPNS2*	AutosomalRecessive Deafness	AR	93.06	2 of 2
*SPTBN4*	Congenital Myopathy With Neuropathy And Deafness	AR	99.26	10 of 10
*STRC*	Autosomal Recessive Sensorineural Deafness And Male Infertility	AR	47.3	35 of 62
*SUCLA2*	Mitochondrial DNA DepletionSyndrome	AR	100	27 of 27
*SUCLG1*	Mitochondrial DNA DepletionSyndrome	AR	100	34 of 34
*SYNE4*	AutosomalRecessive Deafness	AR	100	2 of 2
*TBC1D24*	Autosomal Dominant Deafness, Autosomal Recessive Deafness, Doors Syndrome	AD,AR	100	80 of 80
*TBL1Y*	Y-linkedDeafness	Y,G	44.6	–
*TBX1*	DigeorgeSyndrome, Velocardiofacial Syndrome	AD,AR	88.7	35 of 42
*TBX22*	Charge-like Syndrome, Cleft Palate, Abruzzo- Erickson Syndrome	X,G	99.94	–
*TCOF1*	Treacher Collins- Franceschetti Syndrome	AD	100	326 of 327
*TECTA*	Autosomal Dominant Nonsyndromic Sensorineural Deafness	AD,AR	99.96	149 of 149
*TFAP2A*	Branchiooculofacial Syndrome	AD	98.61	37 of 37
*TIMM8A*	Mohr-Tranebjaerg Syndrome	X,XR,G	100	–
*TJP2*	Progressive FamilialIntrahepatic Cholestasis	AR	99.85	43 of 43
*TMC1*	Autosomal Dominant Deafness, Autosomal Recessive Neurosensory Deafness	AD,AR	100	106 of 107
*TMEM132E*	Autosomal Recessive Deafness	AR	99.8	1 of 1
*TMIE*	Autosomal Recessive Deafness	AR	96.56	9 of 10
*TMPRSS3*	Childhood-Onset Neurosensory Deafness	AR	100	85 of 85
*TNC*	Autosomal Dominant Deafness	AD	99.98	7 of 7
*TPRN*	Autosomal Recessive Deafness	AR	75.75	7 of 12
*TRAPPC12*	Early-Onset Progressive Encephalopathy- Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	AR	99.98	3 of 3
*TRIOBP*	AutosomalRecessive Deafness	AR	98.48	42 of 42
*TRMU*	Aminoglycoside-Induced Deafness, Liver Failure , Acute Infantile, Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	AR,MI	100	25 of 25
*TRNE*	Maternally-Inherited Diabetes And Deafness	–	–	–
*TRNK*	Maternally-Inherited Diabetes And Deafness, Mitochondrial DNA-Related Cardiomyopathy And Hearing Loss	MI	–	–
*TRNL1*	Kearns-Sayre Syndrome, Maternally-Inherited Diabetes And Deafness, Mitochondrial DNA-Associated Leigh Syndrome	MI	–	–
*TRNS1*	Deafness, Aminoglycoside- Induced, Mitochondrial Complex Iv Deficiency, Palmoplantar Keratoderma- Deafness Syndrome	AR,MI	–	–
*TRRAP*	Autosomal Dominant Deafness	AD	99.98	46 of 46
*TSPEAR*	Autosomal Recessive Deafness	AR	100	9 of 9
*TUBB4B*	Leber Congenital Amaurosis With Early-Onset Deafness	AD	100	3 of 3
*TWNK*	Infantile-Onset Spinocerebellar Ataxia, Perrault Syndrome, Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions	AD,AR	–	–
*TXNL4A*	Burn-Mckeown Syndrome, Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome	AR	80.96	4 of 4
*TYR*	Oculocutaneous Albinism	AR	99.77	437 of 455
*USH1C*	Autosomal Recessive Neurosensory Deafness, Usher Syndrome	AR	99.97	79 of 79
*USH1G*	Usher Syndrome	AR	100	35 of 35
*USH2A*	Retinitis Pigmentosa, Usher Syndrome	AR	100	1286 of 1314
*VCAN*	Wagner Syndrome	AD	99.91	11 of 21
*WBP2*	Autosomal Recessive Deafness	AR	80.97	3 of 3
*WFS1*	Autosomal Dominant Deafness, Wolfram Syndrome	AD,AR	99.97	390 of 395
*WHRN*	Autosomal Recessive Deafness, Usher Syndrome	AR	99.94	–

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

See scientific referrals

BROCHURE

Download

Syndromic and Nonsyndromic Deafness Precision Panel

Hearing loss can be defined as conductive or sensorineural. Conductive hearing loss occurs due to dysfunction of the outer or middle ear, which prevents transmission of sound waves from reaching the inner ear.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

BROCHURE

Request Information