Oído, Nariz, Garganta

ESTUDIOS DISPONIBLES:

  • Sordera Hereditaria

 

PANELES:

Panel Completo de Deficiencia Auditiva y Sordera
ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ACTG1Baraitser-Winter syndrome, Deafness
ADCY1Deafness
ADGRV1Usher syndrome
ALMS1Alström syndrome
ANKHCalcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant type
ATP6V1B1Renal tubular acidosis with deafness
BCS1LBjornstad syndrome
BDP1Hearing loss
BSNDBartter syndrome, Sensorineural deafness with mild renal dysfunction
BTDBiotinidase deficiency
CABP2Deafness
CACNA1DPrimary aldosteronism, seizures, and neurologic abnormalities, Sinoatrial node dysfunction and deafness
CCDC50Deafness
CD151Raph blood group
CDH23Deafness, Usher syndrome
CDKN1CBeckwith-Wiedemann syndrome, IMAGE syndrome
CEACAM16Deafness
CHD7CHARGE syndrome, Isolated gonadotropin-releasing hormone deficiency
CHSY1Temtamy preaxial brachydactyly syndrome
CIB2Deafness, Usher syndrome
CLDN14Deafness
CLIC5Deafness
CLRN1Retinitis pigmentosa, Usher syndrome
COCHDeafness
COL2A1Achondrogenesis type 2, Avascular necrosis of femoral head, Czech dysplasia, Epiphyseal dysplasia, with myopia and deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1
COL4A3Alport syndrome
COL4A4Alport syndrome
COL4A5Alport syndrome
COL4A6Deafness, with cochlear malformation
COL9A1Multiple epiphyseal dysplasia type 6 (EDM6), Stickler syndrome recessive type
COL9A2Multiple epiphyseal dysplasia type 2 (EDM2), Stickler syndrome
COL9A3Multiple epihyseal dysplasia type 3 (EDM3)
COL11A1Fibrochondrogenesis, Marshall syndrome, Stickler syndrome type 2
COL11A2Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal dysplasia, Stickler syndrome type 3 (non-ocular), Weissenbacher-Zweymuller syndrome
CRYMDeafness
DCDC2Deafness
DFNA5Deafness
DFNB31Deafness, Usher syndrome
DFNB59Deafness
DIABLODeafness
DIAPH1Deafness
DIAPH3Non-syndromic sensorineural deafness
DLX5Split-hand/foot malformation with sensorineural hearing loss
DSPPDeafness, with dentinogenesis imperfecta, Dentin dysplasia, Dentinogenesis imperfecta
EDN3Central hypoventilation syndrome, congenital, Hirschsprung disease, Waardenburg syndrome
EDNRBABCD syndrome, Hirschsprung disease, Waardenburg syndrome
ELMOD3Deafness
EPS8Deafness
ESPNDeafness
ESRRBDeafness
EYA1Branchiootic syndrome, Branchiootorenal syndrome, Otofaciocervical syndrome
EYA4Dilated cardiomyopathy (DCM)
FAM65BDeafness
FGF3Deafness, congenital with inner ear agenesis, microtia, and microdontia
FGFR3Achondroplasia, Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome, Crouzon syndrome with acanthosis nigricans, Hypochondroplasia, Lacrimoauriculodentodigital syndrome, Muenke syndrome, SADDAN, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2
FOXI1Enlarged vestibular aqueduct, Pendred syndrome
GATA3Hypomagnesemia, renal
GIPC3Deafness
GJB2Bart-Pumphrey syndrome, Deafness, Hystrix-like ichthyosis with deafness, Keratitis-icthyosis-deafness syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome
GJB3Deafness
GJB6Deafness
GPSM2Chudley-McCullough syndrome, Deafness
GRHL2Ectodermal dysplasia/short stature syndrome
GRXCR1Deafness
GRXCR2Deafness
HARSUsher syndrome
HGFDeafness
HOMER2Deafness
HOXB1Facial paresis, hereditary congenital
HSD17B4Perrault syndrome
ILDR1Deafness
KARSCharcot-Marie-Tooth disease
KCNE1Jervell and Lange-Nielsen syndrome, Long QT syndrome
KCNJ10Enlarged vestibular aqueduct, Pendred syndrome, Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome)
KCNQ1Atrial fibrillation, Jervell and Lange-Nielsen syndrome, Long QT syndrome, Short QT syndrome
KCNQ4Deafness
LHFPL5Deafness
LOXHD1Deafness
LRP2Donnai-Barrow syndrome, Faciooculoacousticorenal syndrome
LRTOMTDeafness
MANBAMannosidosis, lysosomal
MARVELD2Deafness
METDeafness, Renal cell carcinoma, papillary
MIR96Deafness
MITFMelanoma, cutaneous malignant, Renal cell carcinoma with or without malignant melanoma, Tietz albinism-deafness syndrome, Waardenburg syndrome
MSRB3Deafness
MYH9Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, May-Hegglin anomaly, Sebastian syndrome
MYH14Deafness, Peripheral neuropathy, myopathy, hoarseness, and hearing loss
MYO1ADeafness
MYO3ADeafness
MYO6Deafness
MYO7ADeafness, Usher syndrome
MYO15ADeafness
NARS2Combined oxidative phosphorylation deficiency
NDPExudative vitreoretinopathy, Norrie disease
NLRP3Chronic infantile neurologic cutaneous articular (CINCA) syndrome, Muckle-Wells syndrome, Neonatal onset multisystem inflammatory disease (NOMID)
OSBPL2Deafness
OTOADeafness
OTOFDeafness, Neuropathy
OTOGDeafness
OTOGLDeafness
P2RX2Deafness
PAX3Craniofacial-deafness-hand syndrome, Waardenburg syndrome
PCDH15Deafness, Usher syndrome
PDZD7Usher syndrome
PNPT1Deafness
POLR1CTreacher Collins syndrome
POLR1DTreacher Collins syndrome
POU3F4Deafness
POU4F3Deafness
PRPS1Arts syndrome, Deafness, Phosphoribosylpyrophosphate synthetase I superactivity
PTPRQDeafness
RDXDeafness
RMND1Combined oxidative phosphorylation deficiency
RPS6KA3Coffin-Lowry syndrome, Mental retardation
SALL4Acro-renal-ocular syndrome, Duane-radial ray/Okohiro syndrome
SEMA3ECHARGE syndrome
SERPINB6Deafness
SIX1Branchiootic syndrome, Branchiootorenal syndrome, Deafness
SIX5Branchiootorenal syndrome
SLC17A8Deafness
SLC19A2Thiamine-responsive megaloblastic anemia syndrome
SLC26A4Deafness, Enlarged vestibular aqueduct, Pendred syndrome
SLC26A5Deafness
SLC29A3Dysosteosclerosis, Histiocytosis-lymphadenopathy plus syndrome
SLC33A1Congenital cataracts, hearing loss, and neurodegeneration
SLITRK6Deafness and myopia
SMAD4Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal
SMPXDeafness
SNAI2Waardenburg syndrome
SOX10Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
STRCDeafness
SUCLA2Mitochondrial DNA depletion syndrome
SUCLG1Mitochondrial DNA depletion syndrome
SYNE4Deafness
TBC1D24Deafness, Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome
TCOF1Treacher Collins syndrome
TECTADeafness
TFAP2ABranchiooculofacial sydrome
TIMM8AJensen syndrome, Mohr-Tranebjaerg syndrome, Opticoacoustic nerve atrophy with dementia
TJP2Cholestasis, progressive familial intrahepatic, Hypercholanemia, familial
TMC1Deafness
TMC2Hearing loss
TMEM132EHearing loss
TMIEDeafness
TMPRSS3Deafness
TNCDeafness
TPRNDeafness
TRIOBPDeafness
TRMULiver failure, infantile, Reversible infantile respiratory chain deficiency
TSPEARDeafness
TYRAlbinism, oculocutaneous
USH1CDeafness, Usher syndrome
USH1GUsher syndrome
USH2AUsher syndrome
VCANWagner disease
WFS1Wolfram syndrome
Panel de Síndrome de Alport

CD151

Raph blood group

COL4A3

Alport syndrome

COL4A4

Alport syndrome

COL4A5

Alport syndrome

COL4A6

Deafness, with cochlear malformation

MYH9

Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, May-Hegglin anomaly, Sebastian syndrome

Panel de Síndrome Branquio-Oto-Renal

EYA1

Branchiootic syndrome, Branchiootorenal syndrome, Otofaciocervical syndrome

SIX1

Branchiootic syndrome, Branchiootorenal syndrome, Deafness

SIX5

Branchiootorenal syndrome

TFAP2A

Branchiooculofacial sydrome

Panel de Síndrome de Pendred

FOXI1

Enlarged vestibular aqueduct, Pendred syndrome

KCNJ10

Enlarged vestibular aqueduct, Pendred syndrome, Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome)

SLC26A4

Deafness, Enlarged vestibular aqueduct, Pendred syndrome

Panel de Síndrome de Stickler

COL2A1

Achondrogenesis type 2, Avascular necrosis of femoral head, Czech dysplasia, Epiphyseal dysplasia, with myopia and deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1

COL9A1

Multiple epiphyseal dysplasia type 6 (EDM6), Stickler syndrome recessive type

COL9A2

Multiple epiphyseal dysplasia type 2 (EDM2), Stickler syndrome

COL9A3

Multiple epihyseal dysplasia type 3 (EDM3)

COL11A1

Fibrochondrogenesis, Marshall syndrome, Stickler syndrome type 2

COL11A2

Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal dysplasia, Stickler syndrome type 3 (non-ocular), Weissenbacher-Zweymuller syndrome

LRP2

Donnai-Barrow syndrome, Faciooculoacousticorenal syndrome

VCAN

Wagner disease

Panel de Síndrome de Usher

ABHD12

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

ADGRV1

Usher syndrome

CDH23

Deafness, Usher syndrome

CIB2

Deafness, Usher syndrome

CLRN1

Retinitis pigmentosa, Usher syndrome

DFNB31

Deafness, Usher syndrome

HARS

Usher syndrome

MYO7A

Deafness, Usher syndrome

PCDH15

Deafness, Usher syndrome

PDZD7

Usher syndrome

USH1C

Deafness, Usher syndrome

USH1G

Usher syndrome

USH2A

Usher syndrome

Panel de Síndrome de Waardenburg

EDN3

Central hypoventilation syndrome, congenital, Hirschsprung disease, Waardenburg syndrome

EDNRB

ABCD syndrome, Hirschsprung disease, Waardenburg syndrome

MITF

Melanoma, cutaneous malignant, Renal cell carcinoma with or without malignant melanoma, Tietz albinism-deafness syndrome, Waardenburg syndrome

PAX3

Craniofacial-deafness-hand syndrome, Waardenburg syndrome

SNAI2

Waardenburg syndrome

SOX10

Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease

Panel de Sordera No Sindrómica

ACTG1

Baraitser-Winter syndrome, Deafness

ADCY1

Deafness

BDP1

Hearing loss

BSND

Bartter syndrome, Sensorineural deafness with mild renal dysfunction

CABP2

Deafness

CCDC50

Deafness

CDH23

Deafness, Usher syndrome

CEACAM16

Deafness

CIB2

Deafness, Usher syndrome

CLDN14

Deafness

CLIC5

Deafness

COCH

Deafness

COL4A6

Deafness, with cochlear malformation

COL11A2

Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal dysplasia, Stickler syndrome type 3 (non-ocular), Weissenbacher-Zweymuller syndrome

CRYM

Deafness

DCDC2

Deafness

DFNA5

Deafness

DFNB31

Deafness, Usher syndrome

DFNB59

Deafness

DIABLO

Deafness

DIAPH1

Deafness

DIAPH3

Non-syndromic sensorineural deafness

DSPP

Deafness, with dentinogenesis imperfecta, Dentin dysplasia, Dentinogenesis imperfecta

ELMOD3

Deafness

EPS8

Deafness

ESPN

Deafness

ESRRB

Deafness

EYA4

Dilated cardiomyopathy (DCM)

FAM65B

Deafness

GIPC3

Deafness

GJB2

Bart-Pumphrey syndrome, Deafness, Hystrix-like ichthyosis with deafness, Keratitis-icthyosis-deafness syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome

GJB3

Deafness

GJB6

Deafness

GPSM2

Chudley-McCullough syndrome, Deafness

GRHL2

Ectodermal dysplasia/short stature syndrome

GRXCR1

Deafness

GRXCR2

Deafness

HGF

Deafness

HOMER2

Deafness

ILDR1

Deafness

KARS

Charcot-Marie-Tooth disease

KCNQ4

Deafness

LHFPL5

Deafness

LOXHD1

Deafness

LRTOMT

Deafness

MARVELD2

Deafness

MET

Deafness, Renal cell carcinoma, papillary

MIR96

Deafness

MSRB3

Deafness

MYH9

Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, May-Hegglin anomaly, Sebastian syndrome

MYH14

Deafness, Peripheral neuropathy, myopathy, hoarseness, and hearing loss

MYO1A

Deafness

MYO3A

Deafness

MYO6

Deafness

MYO7A

Deafness, Usher syndrome

MYO15A

Deafness

NARS2

Combined oxidative phosphorylation deficiency

OSBPL2

Deafness

OTOA

Deafness

OTOF

Deafness, Neuropathy

OTOG

Deafness

OTOGL

Deafness

P2RX2

Deafness

PCDH15

Deafness, Usher syndrome

PNPT1

Deafness

POU3F4

Deafness

POU4F3

Deafness

PRPS1

Arts syndrome, Deafness, Phosphoribosylpyrophosphate synthetase I superactivity

PTPRQ

Deafness

RDX

Deafness

SERPINB6

Deafness

SIX1

Branchiootic syndrome, Branchiootorenal syndrome, Deafness

SLC17A8

Deafness

SLC26A4

Deafness, Enlarged vestibular aqueduct, Pendred syndrome

SLC26A5

Deafness

SLITRK6

Deafness and myopia

SMPX

Deafness

STRC

Deafness

SYNE4

Deafness

TBC1D24

Deafness, Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome

TECTA

Deafness

TJP2

Cholestasis, progressive familial intrahepatic, Hypercholanemia, familial

TMC1

Deafness

TMC2

Hearing loss

TMEM132E

Hearing loss

TMIE

Deafness

TMPRSS3

Deafness

TNC

Deafness

TPRN

Deafness

TRIOBP

Deafness

TSPEAR

Deafness

USH1C

Deafness, Usher syndrome

WFS1

Wolfram syndrome

Panel de Sordera Sindrómica

ABHD12

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

ACTG1

Baraitser-Winter syndrome, Deafness

ADGRV1

Usher syndrome

ALMS1

Alström syndrome

ANKH

Calcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant type

ATP6V1B1

Renal tubular acidosis with deafness

BCS1L

Bjornstad syndrome

BSND

Bartter syndrome, Sensorineural deafness with mild renal dysfunction

BTD

Biotinidase deficiency

CACNA1D

Primary aldosteronism, seizures, and neurologic abnormalities, Sinoatrial node dysfunction and deafness

CD151

Raph blood group

CDH23

Deafness, Usher syndrome

CDKN1C

Beckwith-Wiedemann syndrome, IMAGE syndrome

CHD7

CHARGE syndrome, Isolated gonadotropin-releasing hormone deficiency

CHSY1

Temtamy preaxial brachydactyly syndrome

CIB2

Deafness, Usher syndrome

CLRN1

Retinitis pigmentosa, Usher syndrome

COL2A1

Achondrogenesis type 2, Avascular necrosis of femoral head, Czech dysplasia, Epiphyseal dysplasia, with myopia and deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1

COL4A3

Alport syndrome

COL4A4

Alport syndrome

COL4A5

Alport syndrome

COL4A6

Deafness, with cochlear malformation

COL9A1

Multiple epiphyseal dysplasia type 6 (EDM6), Stickler syndrome recessive type

COL9A2

Multiple epiphyseal dysplasia type 2 (EDM2), Stickler syndrome

COL9A3

Multiple epihyseal dysplasia type 3 (EDM3)

COL11A1

Fibrochondrogenesis, Marshall syndrome, Stickler syndrome type 2

COL11A2

Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal dysplasia, Stickler syndrome type 3 (non-ocular), Weissenbacher-Zweymuller syndrome

DFNB31

Deafness, Usher syndrome

DLX5

Split-hand/foot malformation with sensorineural hearing loss

EDN3

Central hypoventilation syndrome, congenital, Hirschsprung disease, Waardenburg syndrome

EDNRB

ABCD syndrome, Hirschsprung disease, Waardenburg syndrome

EYA1

Branchiootic syndrome, Branchiootorenal syndrome, Otofaciocervical syndrome

FGF3

Deafness, congenital with inner ear agenesis, microtia, and microdontia

FOXI1

Enlarged vestibular aqueduct, Pendred syndrome

GATA3

Hypomagnesemia, renal

HARS

Usher syndrome

HOXB1

Facial paresis, hereditary congenital

KCNE1

Jervell and Lange-Nielsen syndrome, Long QT syndrome

KCNJ10

Enlarged vestibular aqueduct, Pendred syndrome, Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome)

KCNQ1

Atrial fibrillation, Jervell and Lange-Nielsen syndrome, Long QT syndrome, Short QT syndrome

LRP2

Donnai-Barrow syndrome, Faciooculoacousticorenal syndrome

MANBA

Mannosidosis, lysosomal

MITF

Melanoma, cutaneous malignant, Renal cell carcinoma with or without malignant melanoma, Tietz albinism-deafness syndrome, Waardenburg syndrome

MYH9

Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, May-Hegglin anomaly, Sebastian syndrome

MYO7A

Deafness, Usher syndrome

NDP

Exudative vitreoretinopathy, Norrie disease

NLRP3

Chronic infantile neurologic cutaneous articular (CINCA) syndrome, Muckle-Wells syndrome, Neonatal onset multisystem inflammatory disease (NOMID)

PAX3

Craniofacial-deafness-hand syndrome, Waardenburg syndrome

PCDH15

Deafness, Usher syndrome

PDZD7

Usher syndrome

POLR1C

Treacher Collins syndrome

POLR1D

Treacher Collins syndrome

SEMA3E

CHARGE syndrome

SIX1

Branchiootic syndrome, Branchiootorenal syndrome, Deafness

SIX5

Branchiootorenal syndrome

SLC19A2

Thiamine-responsive megaloblastic anemia syndrome

SLC26A4

Deafness, Enlarged vestibular aqueduct, Pendred syndrome

SLITRK6

Deafness and myopia

SMAD4

Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal

SNAI2

Waardenburg syndrome

SOX10

Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease

TCOF1

Treacher Collins syndrome

TFAP2A

Branchiooculofacial sydrome

TIMM8A

Jensen syndrome, Mohr-Tranebjaerg syndrome, Opticoacoustic nerve atrophy with dementia

TYR

Albinism, oculocutaneous

USH1C

Deafness, Usher syndrome

USH1G

Usher syndrome

USH2A

Usher syndrome

VCAN

Wagner disease

WFS1

Wolfram syndrome

Panel de Telangiectasia Hemorrágica Hereditaria

ACVRL1

Hereditary hemorrhagic telangiectasia

ENG

Hereditary hemorrhagic telangiectasia, Juvenile polyposis syndrome

RASA1

Capillary malformation-arteriovenous malformation, Parkes Weber syndrome, Spinal arteriovenous anomalies

SMAD4

Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal

 

Clasificación de Variantes

 

EXOMA.

Clasificación de Variantes

Al realizar un diagnóstico genético, la clasificación de variantes es la base a partir de la cual se toman las decisiones médicas. Específicamente, es importante conocer si una variante es patogénica o casi patogénica porque influye en el cuidado y tratamiento adecuados.

 

Breve guía para entender la clasificación de variantes.

 

Variante patogénica.

La variante es considerada la causa de la enfermedad.

 

Variante casi patogénica.

La variante identificada es considerada una probable causa de la enfermedad. La información debe ser usada con precaución al momento de tomar decisiones médicas dado que existe un grado de incertidumbre.

 

Variante de significado incierto.

La variante podría ser una mutación independiente causante de la enfermedad pero la evidencia existente es insuficiente y contradictoria.

 

Variante casi benigna.

La variante probablemente no sea la causa de la enfermedad estudiada.

 

Variante benigna.

La variante no es considerada la causa de la enfermedad estudiada.

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