Oftalmología – Genda – Genética y Biología Molecular
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Oftalmología

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Panel de Acromatopsia
ATF6Achromatopsia
CNGA3Achromatopsia, Leber congenital amaurosis
CNGB3Achromatopsia, Macular degeneration, juvenile
GNAT2Achromatopsia
PDE6CCone dystrophy
PDE6HAchromatopsia, Retinal cone dystrophy
Panel de Albinismo
AP3B1Hermansky-Pudlak syndrome
BLOC1S3Hermansky-Pudlak syndrome
BLOC1S6Hermansky-Pudlak syndrome
DTNBP1Hermansky-Pudlak syndrome
GPR143Nystagmus, congenital, Ocular albinism
HPS1Hermansky-Pudlak syndrome
HPS3Hermansky-Pudlak syndrome
HPS4Hermansky-Pudlak syndrome
HPS5Hermansky-Pudlak syndrome
HPS6Hermansky-Pudlak syndrome
LYSTChediak-Higashi syndrome
MC1RIncreased analgesia from kappa-opioid receptor agonist
MITFMelanoma, cutaneous malignant, Renal cell carcinoma with or without malignant melanoma, Tietz albinism-deafness syndrome, Waardenburg syndrome
MYO5AGriscelli syndrome
OCA2Albinism, brown oculocutaneous, Albinism, oculocutaneous, Skin/hair/eye pigmentation
RAB27AElejalde syndrome, Griscelli syndrome
SLC45A2Oculocutaneous albinism, Skin/hair/eye pigmentation
TYRAlbinism, oculocutaneous
TYRP1Albinism, oculocutaneous
Panel de Amaurosis Congénita de Leber
AIPL1Cone rod dystrophy, Leber congenital amaurosis, Retinitis pigmentosa
ALMS1Alström syndrome
BBS4Bardet-Biedl syndrome
CABP4Night blindness, congenital stationary
CEP290Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome
CNGA3Achromatopsia, Leber congenital amaurosis
CRB1Leber congenital amaurosis, Pigmented paravenous chorioretinal atrophy, Retinitis pigmentosa
CRXCone rod dystrophy, Leber congenital amaurosis
DTHD1Leber congenital amaurosis with muscle dystrophy
GUCY2DCone rod dystrophy, Leber congenital amaurosis
IMPDH1Leber congenital amaurosis, Retinitis pigmentosa
IQCB1Senior-Loken syndrome
KCNJ13Leber congenital amaurosis, Snowflake vitreoretinal degeneration
LCA5Leber congenital amaurosis
LRATLeber congenital amaurosis, Retinal-dystrophy, early-onset severe, Retinitis pigmentosa, juvenile, Retinitis punctata albescens
MERTKRetinitis pigmentosa
MYO7ADeafness, Usher syndrome
NMNAT1Leber congenital amaurosis
RD3Leber congenital amaurosis
RDH5Fundus albipunctatus
RDH12Leber congenital amaurosis, Retinitis pigmentosa
RPE65Leber congenital amaurosis, Retinitis pigmentosa
RPGRIP1Cone rod dystrophy, Leber congenital amaurosis
SPATA7Leber congenital amaurosis, Retitinitis pigmentosa
TULP1Leber congenital amaurosis, Retinitis pigmentosa
Panel de Atrofia Óptica
C12ORF65Combined oxidative phosphorylation deficiency, Spastic paraplegia
MFN2Charcot-Marie-Tooth disease, Hereditary motor and sensory neuropathy
NDUFS1Mitochondrial complex I deficiency
OPA1Glaucoma, normal tension
OPA33-methylglutaconic aciduria, Optic atrophy
POLGAlpers syndrome, Mitochondrial DNA depletion syndrome, POLG-related ataxia neuropathy spectrum disorders, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Sensory ataxia, dysarthria, and ophthalmoparesis
SPG7Spastic paraplegia
TIMM8AJensen syndrome, Mohr-Tranebjaerg syndrome, Opticoacoustic nerve atrophy with dementia
TMEM126AOptic atrophy
WFS1Wolfram syndrome
Panel de Cataratas
ABCB6Blood group, Langereis system, Pseudohyperkalemia
ADAMTSL4Ectopia lentis, isolated
AGKSengers syndrome
ALDH18A1Cutis laxa, Spastic paraplegia
BCORMicrophthalmia, syndromic, Oculofaciocardiodental syndrome
BFSP2Cataract
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
COL4A1Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Anterior segment dysgenesis with cerebral involvement, Brain small vessel disease, Porencephaly, Retinal artery tortuosity, Schizencephaly
COL11A1Fibrochondrogenesis, Marshall syndrome, Stickler syndrome type 2
COL18A1Knobloch syndrome
CRYAACataract
CRYABCataract, myofibrillar myopathy and cardiomyopathy, Congenital cataract and cardiomyopathy, Dilated cardiomyopathy (DCM), Myopathy, myofibrillar
CRYBB1Cataract
CRYBB2Cataract
CRYBB3Cataract
CRYGCCataract
CRYGDCataract
CYP27A1Cerebrotendinous xanthomatosis
ERCC2Trichothiodystrophy, photosensitive, Xeroderma pigmentosum
ERCC5Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndrome
ERCC6De Sanctis-Cacchione syndrome, Xeroderma Pigmentosum-Cockayne Syndrome
ERCC8Cockayne syndrome, UV-sensitive syndrome
EYA1Branchiootic syndrome, Branchiootorenal syndrome, Otofaciocervical syndrome
FAM126ALeukodystrophy, hypomyelinating
FOXE3Anterior segment mesenchymal dysgenesis, Aphakia, congenital primary
FTLHyperferritinemia-cataract syndrome, L-ferritin deficiency, Neurodegeneration with brain iron accumulation
FYCO1Cataract
FZD4Exudative vitreoretinopathy, Retinopathy of prematurity
GALK1Galactokinase deficiency
GALTGalactosemia
GCNT2Adult i pheno without cataract, Blood group, Ii, Cataract 13 with adult i pheno
GJA1Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3
GJA3Cataract
GJA8Cataract
HSF4Cataract
LIM2Cataract
MAFAyme-Gripp syndrome
MYH9Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, May-Hegglin anomaly, Sebastian syndrome
NDPExudative vitreoretinopathy, Norrie disease
NF2Neurofibromatosis, Schwannomatosis
NHSCataract, Nance-Horan syndrome
OCRLDent disease, Lowe syndrome
OPA33-methylglutaconic aciduria, Optic atrophy
PAX6Aniridia, Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome), Cataract with late-onset corneal dystrophy, Coloboma, ocular, Foveal hypoplasia, Keratitis, Morning glory disc anomaly, Optic nerve hypoplasia, Peters anomaly
PITX3Anterior segment mesenchymal dysgenesis, Cataract
RAB3GAP1Warburg micro syndrome
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome
SIL1Marinesco-Sjogren syndrome
SLC33A1Congenital cataracts, hearing loss, and neurodegeneration
TDRD7Cataract
TFAP2ABranchiooculofacial sydrome
TMEM70Mitochondrial complex V (ATP synthase) deficiency
WFS1Wolfram syndrome
WRNWerner syndrome
Panel de Ceguera Nocturna Estacionaria Congénita
CABP4Night blindness, congenital stationary
CACNA1FAland Island eye disease, Cone rod dystrophy, Night blindness, congenital stationary
CACNA2D4Retinal cone dystrophy
CYP4V2Bietti crystalline corneoretinal dystrophy, Retinitis pigmentosa
GNAT1Night blindness, congenital stationary
GPR179Night blindness, congenital stationary
GRK1Oguchi disease
GRM6Night blindness, congenital stationary
LRIT3Night blindness, congenital stationary
NYXNight blindness, congenital stationary
PDE6BNight blindness, congenital stationary, Retinitis pigmentosa
RDH5Fundus albipunctatus
RHONight blindness, congenital stationary, Retinitis pigmentosa, Retinitis punctata albescens
RLBP1Bothnia retinal dystrophy, Fundus albipunctatus, Newfoundland rod-cone dystrophy, Retinitis punctata albescens
RPE65Leber congenital amaurosis, Retinitis pigmentosa
SAGOguchi disease, Retinitis pigmentosa
TRPM1Night blindness, congenital stationary
Panel de Desórdenes de la Retina Flecked
ABCA4Cone rod dystrophy, Fundus flavimaculatus, Retinal dystrophy, early-onset severe, Retinitis pigmentosa, Stargardt disease
CHMChoiroideremia
CYP4V2Bietti crystalline corneoretinal dystrophy, Retinitis pigmentosa
ELOVL4Icthyosis, spastic quadriplegia, and mental retardation, Spinocerebellar ataxia, Stargardt disease
PROM1Cone rod dystrophy, Macular dystrophy, retinal,, Retinitis pigmentosa, Stargardt disease
PRPH2Choriodal dystrophy, central areolar, Macula dystrophy, patterned, Macular dystrophy, vitelliform, Retinitis pigmentosa, Retinitis punctata albescens
RDH5Fundus albipunctatus
RHONight blindness, congenital stationary, Retinitis pigmentosa, Retinitis punctata albescens
RLBP1Bothnia retinal dystrophy, Fundus albipunctatus, Newfoundland rod-cone dystrophy, Retinitis punctata albescens
RS1Retinoschisis
VPS13BCohen syndrome
Panel de Distrofia Corneal
CHST6Macular dystrophy, corneal
COL5A1Ehlers-Danlos syndrome
CYP4V2Bietti crystalline corneoretinal dystrophy, Retinitis pigmentosa
FOXE3Anterior segment mesenchymal dysgenesis, Aphakia, congenital primary
GJA8Cataract
KRT12Meesmann corneal dystrophy
LCATFish-eye disease, Lecithin:cholesterol acyltransferase deficiency
LOXHD1Deafness
MAFAyme-Gripp syndrome
PITX2Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomaly, Ring dermoid of cornea
SLC4A11Cryohydrocytosis
TCF4Corneal dystrophy, Fuchs endothelial, Pitt-Hopkins syndrome
TGFBICorneal dystrophy, Corneal dystrophy of Bowman layer, Corneal dystrophy, Avellino, Corneal dystrophy, Groenouw, Corneal dystrophy, Reis-Bucklers, Corneal dystrophy, Thiel-Behnke, Corneal dystrophy, epithelial basement membrane
ZEB1Corneal dystrophy, Fuchs endothelial, Corneal dystrophy, posterior polymorphous
ZNF469Brittle cornea syndrome
Panel de Distrofia de Conos y Bastones
ABCA4Cone rod dystrophy, Fundus flavimaculatus, Retinal dystrophy, early-onset severe, Retinitis pigmentosa, Stargardt disease
ADAM9Cone rod dystrophy
AIPL1Cone rod dystrophy, Leber congenital amaurosis, Retinitis pigmentosa
BEST1Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Vitreoretinochoroidopathy
C8ORF37Cone rod dystrophy, Retinitis pigmentosa
CABP4Night blindness, congenital stationary
CACNA1FAland Island eye disease, Cone rod dystrophy, Night blindness, congenital stationary
CACNA2D4Retinal cone dystrophy
CDHR1Cone rod dystrophy, Retinitis pigmentosa
CERKLRetinitis pigmentosa
CLN3Ceroid lipofuscinosis, neuronal
CNGA3Achromatopsia, Leber congenital amaurosis
CNGB3Achromatopsia, Macular degeneration, juvenile
CNNM4Jalili syndrome
CRB1Leber congenital amaurosis, Pigmented paravenous chorioretinal atrophy, Retinitis pigmentosa
CRXCone rod dystrophy, Leber congenital amaurosis
CYP4V2Bietti crystalline corneoretinal dystrophy, Retinitis pigmentosa
FBLN5Cutis laxa, Macular degeneration, age-related
GNAT2Achromatopsia
GUCA1ACone dystrophy 3/Cone rod dystrophy
GUCY2DCone rod dystrophy, Leber congenital amaurosis
KCNV2Retinal cone dystrophy
MERTKRetinitis pigmentosa
PDE6CCone dystrophy
PDE6HAchromatopsia, Retinal cone dystrophy
PROM1Cone rod dystrophy, Macular dystrophy, retinal,, Retinitis pigmentosa, Stargardt disease
PRPH2Choriodal dystrophy, central areolar, Macula dystrophy, patterned, Macular dystrophy, vitelliform, Retinitis pigmentosa, Retinitis punctata albescens
RAX2Cone rod dystrophy
RDH5Fundus albipunctatus
RPGRRetinitis pigmentosa
RPGRIP1Cone rod dystrophy, Leber congenital amaurosis
SEMA4ACone rod dystrophy, Retinitis pigmentosa
Panel de Distrofias de la Retina
ABCA4Cone rod dystrophy, Fundus flavimaculatus, Retinal dystrophy, early-onset severe, Retinitis pigmentosa, Stargardt disease
ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ADAM9Cone rod dystrophy
ADGRV1Usher syndrome
AHI1Joubert syndrome
AIPL1Cone rod dystrophy, Leber congenital amaurosis, Retinitis pigmentosa
ALMS1Alström syndrome
ARL6Bardet-Biedl syndrome, Retinitis pigmentosa
ARL13BJoubert syndrome
ATF6Achromatopsia
B9D1Meckel syndrome
B9D2Meckel syndrome
BBS1Bardet-Biedl syndrome
BBS2Bardet-Biedl syndrome, Retinitis pigmentosa
BBS4Bardet-Biedl syndrome
BBS5Bardet-Biedl syndrome
BBS7Bardet-Biedl syndrome
BBS9Bardet-Biedl syndrome
BBS10Bardet-Biedl syndrome
BBS12Bardet-Biedl syndrome
BEST1Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Vitreoretinochoroidopathy
C2ORF71Retinitis pigmentosa
C5ORF42Joubert syndrome, Orofaciodigital syndrome
C8ORF37Cone rod dystrophy, Retinitis pigmentosa
CABP4Night blindness, congenital stationary
CACNA1FAland Island eye disease, Cone rod dystrophy, Night blindness, congenital stationary
CACNA2D4Retinal cone dystrophy
CAPN5Vitreoretinopathy, neovascular inflammatory
CC2D2ACOACH syndrome, Joubert syndrome, Meckel syndrome
CDH23Deafness, Usher syndrome
CDHR1Cone rod dystrophy, Retinitis pigmentosa
CEP41Joubert syndrome
CEP164Nephronophthisis
CEP290Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome
CERKLRetinitis pigmentosa
CHMChoiroideremia
CIB2Deafness, Usher syndrome
CLN3Ceroid lipofuscinosis, neuronal
CLRN1Retinitis pigmentosa, Usher syndrome
CNGA1Retinitis pigmentosa
CNGA3Achromatopsia, Leber congenital amaurosis
CNGB1Retinitis pigmentosa
CNGB3Achromatopsia, Macular degeneration, juvenile
CNNM4Jalili syndrome
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
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
COL18A1Knobloch syndrome
CRB1Leber congenital amaurosis, Pigmented paravenous chorioretinal atrophy, Retinitis pigmentosa
CRXCone rod dystrophy, Leber congenital amaurosis
CSPP1Jeune Asphyxiating Thoracic Dystrophy, Joubert syndrome
CYP4V2Bietti crystalline corneoretinal dystrophy, Retinitis pigmentosa
DFNB31Deafness, Usher syndrome
DHDDSRetinitis pigmentosa
DTHD1Leber congenital amaurosis with muscle dystrophy
EFEMP1Doyne honeycomb degeneration of retina, Malattia leventinese
ELOVL4Icthyosis, spastic quadriplegia, and mental retardation, Spinocerebellar ataxia, Stargardt disease
EYSRetitinis pigmentosa
FAM161ARetitinis pigmentosa
FBLN5Cutis laxa, Macular degeneration, age-related
FLVCR1Ataxia, posterior column, with retinitis pigmentosa
FRMD7Nystagmus, infantile periodic alternating
FZD4Exudative vitreoretinopathy, Retinopathy of prematurity
GNAT1Night blindness, congenital stationary
GNAT2Achromatopsia
GNPTGMucolipidosis
GPR179Night blindness, congenital stationary
GRK1Oguchi disease
GRM6Night blindness, congenital stationary
GUCA1ACone dystrophy 3/Cone rod dystrophy
GUCY2DCone rod dystrophy, Leber congenital amaurosis
HARSUsher syndrome
HK1Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HMX1Oculoauricular syndrome
IDH3BRetinitis pigmentosa
IFT140Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly
IFT172Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly
IMPDH1Leber congenital amaurosis, Retinitis pigmentosa
IMPG1Macular dystrophy, vitelliform
IMPG2Retinitis pigmentosa
INPP5EJoubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
INVSNephronophthisis
IQCB1Senior-Loken syndrome
KCNJ13Leber congenital amaurosis, Snowflake vitreoretinal degeneration
KCNV2Retinal cone dystrophy
KIAA0586Joubert syndrome, Short rib thoracic dysplasia with polydactyly
KIF7Acrocallosal syndrome, Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome, Joubert syndrome
KIF11Microcephaly
KLHL7Retinitis pigmentosa
LCA5Leber congenital amaurosis
LRATLeber congenital amaurosis, Retinal-dystrophy, early-onset severe, Retinitis pigmentosa, juvenile, Retinitis punctata albescens
LRIT3Night blindness, congenital stationary
LRP2Donnai-Barrow syndrome, Faciooculoacousticorenal syndrome
LRP5Exudative vitreoretinopathy, Hyperostosis, endosteal, LRP5 primary osteoporosis, Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease
MAKRetinitis pigmentosa
MERTKRetinitis pigmentosa
MKKSBardet-Biedl syndrome, McKusick-Kaufman syndrome
MKS1Bardet-Biedl syndrome, Meckel syndrome
MVKHyper-IgD syndrome, Mevalonic aciduria
MYO7ADeafness, Usher syndrome
NDPExudative vitreoretinopathy, Norrie disease
NMNAT1Leber congenital amaurosis
NPHP1Joubert syndrome, Nephronophthisis, Senior-Loken syndrome
NPHP3Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia
NPHP4Nephronophthisis, Senior-Loken syndrome
NR2E3Enhanced S-cone syndrome, Retinitis pigmentosa
NRLClumped pigmentary retinal degeneration, Retinitis pigmentosa
NYXNight blindness, congenital stationary
OATGyrate atrophy of choroid and retina
OFD1Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome
OPA1Glaucoma, normal tension
OPA33-methylglutaconic aciduria, Optic atrophy
OTX2Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunction
PANK2Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration, Neurodegeneration with brain iron accumulation
PCDH15Deafness, Usher syndrome
PDE6ARetinitis pigmentosa
PDE6BNight blindness, congenital stationary, Retinitis pigmentosa
PDE6CCone dystrophy
PDE6GRetinitis pigmentosa
PDE6HAchromatopsia, Retinal cone dystrophy
PDZD7Usher syndrome
PEX1Heimler syndrome
PEX2Peroxisome biogenesis disorder, Zellweger syndrome
PEX7Refsum disease, Rhizomelic CDP type 1
PHYHRefsum disease
PRCDRetinitis pigmentosa
PROM1Cone rod dystrophy, Macular dystrophy, retinal,, Retinitis pigmentosa, Stargardt disease
PRPF3Retinitis pigmentosa
PRPF8Retinitis pigmentosa
PRPF31Retinitis pigmentosa
PRPH2Choriodal dystrophy, central areolar, Macula dystrophy, patterned, Macular dystrophy, vitelliform, Retinitis pigmentosa, Retinitis punctata albescens
RAX2Cone rod dystrophy
RBP3Retinitis pigmentosa
RD3Leber congenital amaurosis
RDH5Fundus albipunctatus
RDH12Leber congenital amaurosis, Retinitis pigmentosa
RGRRetinitis pigmentosa
RHONight blindness, congenital stationary, Retinitis pigmentosa, Retinitis punctata albescens
RLBP1Bothnia retinal dystrophy, Fundus albipunctatus, Newfoundland rod-cone dystrophy, Retinitis punctata albescens
RP1Retinitis pigmentosa
RP1L1Occult macular dystrophy, Retinitis pigmentosa
RP2Retinitis pigmentosa
RPE65Leber congenital amaurosis, Retinitis pigmentosa
RPGRRetinitis pigmentosa
RPGRIP1Cone rod dystrophy, Leber congenital amaurosis
RPGRIP1LCOACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier
RS1Retinoschisis
SAGOguchi disease, Retinitis pigmentosa
SDCCAG8Bardet-Biedl syndrome, Senior-Loken syndrome
SEMA4ACone rod dystrophy, Retinitis pigmentosa
SNRNP200Retinitis pigmentosa
SPATA7Leber congenital amaurosis, Retitinitis pigmentosa
TCTN1Joubert syndrome
TCTN2Joubert syndrome, Meckel syndrome
TCTN3Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome)
TMEM67COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis
TMEM107Joubert syndrome
TMEM126AOptic atrophy
TMEM138Joubert syndrome
TMEM216Joubert syndrome, Meckel syndrome
TMEM231Joubert syndrome, Meckel syndrome
TMEM237Joubert syndrome
TOPORSRetitinis pigmentosa
TRIM32Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle
TRPM1Night blindness, congenital stationary
TSPAN12Exudative vitreoretinopathy, Retinal dysplasia and severe familial exudative vitreoretinopathy
TTC8Bardet-Biedl syndrome, Retinitis pigmentosa
TTC21BAsphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia
TTPAAtaxia with isolated vitamin E deficiency
TULP1Leber congenital amaurosis, Retinitis pigmentosa
USH1CDeafness, Usher syndrome
USH1GUsher syndrome
USH2AUsher syndrome
VCANWagner disease
VPS13BCohen syndrome
WDR19Asphyxiating thoracic dysplasia (ATD; Jeune), Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Nephronophthisis, Retinitis pigmentosa, Senior-Loken syndrome, Short -rib thoracic dysplasia with or without polydactyly
ZNF423Joubert syndrome, Nephronophthisis
ZNF513Retinitis pigmentosa
Panel de Distrofia Macular
ABCA4Cone rod dystrophy, Fundus flavimaculatus, Retinal dystrophy, early-onset severe, Retinitis pigmentosa, Stargardt disease
BEST1Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Vitreoretinochoroidopathy
CERKLRetinitis pigmentosa
CNGB3Achromatopsia, Macular degeneration, juvenile
CRB1Leber congenital amaurosis, Pigmented paravenous chorioretinal atrophy, Retinitis pigmentosa
ELOVL4Icthyosis, spastic quadriplegia, and mental retardation, Spinocerebellar ataxia, Stargardt disease
FBLN5Cutis laxa, Macular degeneration, age-related
IMPG1Macular dystrophy, vitelliform
PROM1Cone rod dystrophy, Macular dystrophy, retinal,, Retinitis pigmentosa, Stargardt disease
PRPH2Choriodal dystrophy, central areolar, Macula dystrophy, patterned, Macular dystrophy, vitelliform, Retinitis pigmentosa, Retinitis punctata albescens
RAX2Cone rod dystrophy
RDH5Fundus albipunctatus
RDH12Leber congenital amaurosis, Retinitis pigmentosa
RLBP1Bothnia retinal dystrophy, Fundus albipunctatus, Newfoundland rod-cone dystrophy, Retinitis punctata albescens
RP1L1Occult macular dystrophy, Retinitis pigmentosa
RPGRRetinitis pigmentosa
RS1Retinoschisis
Panel de Glaucoma
CNTNAP2Cortical dysplasia-focal epilepsy syndrome, Pitt-Hopkins like syndrome
COL4A1Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Anterior segment dysgenesis with cerebral involvement, Brain small vessel disease, Porencephaly, Retinal artery tortuosity, Schizencephaly
CYP1B1Glaucoma, primary congenital, Glaucoma, primary open angle glaucoma, juvenile-onset, Glaucoma, primary open angle, adult-onset, Peters anomaly
FOXC1Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomaly
FOXE3Anterior segment mesenchymal dysgenesis, Aphakia, congenital primary
LMX1BNail-patella syndrome
LTBP2Glaucoma, primary congenital, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Weill-Marchesani syndrome
MAFAyme-Gripp syndrome
MYOCGlaucoma, primary open angle
OPA1Glaucoma, normal tension
OPA33-methylglutaconic aciduria, Optic atrophy
OPTNGlaucoma, normal tension, Glaucoma, open angle
PAX6Aniridia, Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome), Cataract with late-onset corneal dystrophy, Coloboma, ocular, Foveal hypoplasia, Keratitis, Morning glory disc anomaly, Optic nerve hypoplasia, Peters anomaly
PITX2Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomaly, Ring dermoid of cornea
TBK1Herpes simplex encephalitis
TMEM126AOptic atrophy
WDR36Glaucoma, open angle
Panel de Microftalmía, Anoftalmía y Disgenesia del Segmento Anterior
ABCB6Blood group, Langereis system, Pseudohyperkalemia
BCORMicrophthalmia, syndromic, Oculofaciocardiodental syndrome
BMP4Microphthalmia, syndromic, Orofacial cleft
CHD7CHARGE syndrome, Isolated gonadotropin-releasing hormone deficiency
COL4A1Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Anterior segment dysgenesis with cerebral involvement, Brain small vessel disease, Porencephaly, Retinal artery tortuosity, Schizencephaly
CYP1B1Glaucoma, primary congenital, Glaucoma, primary open angle glaucoma, juvenile-onset, Glaucoma, primary open angle, adult-onset, Peters anomaly
ERCC2Trichothiodystrophy, photosensitive, Xeroderma pigmentosum
ERCC5Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndrome
ERCC6De Sanctis-Cacchione syndrome, Xeroderma Pigmentosum-Cockayne Syndrome
FOXC1Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomaly
FOXE3Anterior segment mesenchymal dysgenesis, Aphakia, congenital primary
FOXL2Blepharophimosis, epicanthus inversus, and ptosis, Premature ovarian failure
FRAS1Fraser syndrome
FREM1Bifid nose, Manitoba oculotrichoanal syndrome, Trigonocephaly
GJA1Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3
HCCSLinear skin defects with multiple congenital anomalies 1 (MIDAS syndrome)
HESX1Pituitary hormone deficiency, combined, Septooptic dysplasia
NDPExudative vitreoretinopathy, Norrie disease
OCRLDent disease, Lowe syndrome
OTX2Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunction
PAX2Isolated renal hypoplasia, Papillorenal syndrome
PAX6Aniridia, Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome), Cataract with late-onset corneal dystrophy, Coloboma, ocular, Foveal hypoplasia, Keratitis, Morning glory disc anomaly, Optic nerve hypoplasia, Peters anomaly
PITX2Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomaly, Ring dermoid of cornea
PQBP1Renpenning syndrome
RAB3GAP1Warburg micro syndrome
SHHHoloprosencephaly, Microphthalmia with coloboma
SIX3Holoprosencephaly
SOX2Microphthalmia, syndromic
STRA6Microphthalmia, isolated, with coloboma, Microphthalmia, syndromic
TFAP2ABranchiooculofacial sydrome
VPS13BCohen syndrome
ZIC2Holoprosencephaly
Panel de Neurooftalmología
APTXAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemia
C10ORF2Mitochondrial DNA depletion syndrome, Perrault syndrome
C12ORF65Combined oxidative phosphorylation deficiency, Spastic paraplegia
FRMD7Nystagmus, infantile periodic alternating
GPR143Nystagmus, congenital, Ocular albinism
HESX1Pituitary hormone deficiency, combined, Septooptic dysplasia
MFN2Charcot-Marie-Tooth disease, Hereditary motor and sensory neuropathy
NDUFS1Mitochondrial complex I deficiency
OPA1Glaucoma, normal tension
OPA33-methylglutaconic aciduria, Optic atrophy
OTX2Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunction
PAX6Aniridia, Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome), Cataract with late-onset corneal dystrophy, Coloboma, ocular, Foveal hypoplasia, Keratitis, Morning glory disc anomaly, Optic nerve hypoplasia, Peters anomaly
POLGAlpers syndrome, Mitochondrial DNA depletion syndrome, POLG-related ataxia neuropathy spectrum disorders, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Sensory ataxia, dysarthria, and ophthalmoparesis
ROBO3Gaze palsy, horizontal, with progressive scoliosis
RRM2BMitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions
SALL4Acro-renal-ocular syndrome, Duane-radial ray/Okohiro syndrome
SETXAmyotrophic lateral sclerosis, juvenile, Ataxia with oculomotor apraxia, Spinocerebellar ataxia
SLC25A4Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions
SOX2Microphthalmia, syndromic
SPG7Spastic paraplegia
TIMM8AJensen syndrome, Mohr-Tranebjaerg syndrome, Opticoacoustic nerve atrophy with dementia
TK2Mitochondrial DNA depletion syndrome
TMEM126AOptic atrophy
TUBB3Cortical dysplasia, complex, with other brain malformations, Fibrosis of extraocular muscles, congenital
TYMPMitochondrial DNA depletion syndrome
WFS1Wolfram syndrome
Panel de Retinitis Pigmentaria
ABCA4Cone rod dystrophy, Fundus flavimaculatus, Retinal dystrophy, early-onset severe, Retinitis pigmentosa, Stargardt disease
ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
AIPL1Cone rod dystrophy, Leber congenital amaurosis, Retinitis pigmentosa
ARL6Bardet-Biedl syndrome, Retinitis pigmentosa
BBS1Bardet-Biedl syndrome
BBS2Bardet-Biedl syndrome, Retinitis pigmentosa
BEST1Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Vitreoretinochoroidopathy
C2ORF71Retinitis pigmentosa
C8ORF37Cone rod dystrophy, Retinitis pigmentosa
CDHR1Cone rod dystrophy, Retinitis pigmentosa
CEP290Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome
CERKLRetinitis pigmentosa
CHMChoiroideremia
CLN3Ceroid lipofuscinosis, neuronal
CLRN1Retinitis pigmentosa, Usher syndrome
CNGA1Retinitis pigmentosa
CNGB1Retinitis pigmentosa
CRB1Leber congenital amaurosis, Pigmented paravenous chorioretinal atrophy, Retinitis pigmentosa
CRXCone rod dystrophy, Leber congenital amaurosis
CYP4V2Bietti crystalline corneoretinal dystrophy, Retinitis pigmentosa
DHDDSRetinitis pigmentosa
EYSRetitinis pigmentosa
FAM161ARetitinis pigmentosa
FLVCR1Ataxia, posterior column, with retinitis pigmentosa
GNPTGMucolipidosis
GUCY2DCone rod dystrophy, Leber congenital amaurosis
HK1Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
IDH3BRetinitis pigmentosa
IMPDH1Leber congenital amaurosis, Retinitis pigmentosa
IMPG2Retinitis pigmentosa
KLHL7Retinitis pigmentosa
LCA5Leber congenital amaurosis
LRATLeber congenital amaurosis, Retinal-dystrophy, early-onset severe, Retinitis pigmentosa, juvenile, Retinitis punctata albescens
MAKRetinitis pigmentosa
MERTKRetinitis pigmentosa
MVKHyper-IgD syndrome, Mevalonic aciduria
NMNAT1Leber congenital amaurosis
NR2E3Enhanced S-cone syndrome, Retinitis pigmentosa
NRLClumped pigmentary retinal degeneration, Retinitis pigmentosa
OATGyrate atrophy of choroid and retina
OFD1Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome
PANK2Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration, Neurodegeneration with brain iron accumulation
PDE6ARetinitis pigmentosa
PDE6BNight blindness, congenital stationary, Retinitis pigmentosa
PDE6GRetinitis pigmentosa
PEX1Heimler syndrome
PEX2Peroxisome biogenesis disorder, Zellweger syndrome
PEX7Refsum disease, Rhizomelic CDP type 1
PHYHRefsum disease
PRCDRetinitis pigmentosa
PROM1Cone rod dystrophy, Macular dystrophy, retinal,, Retinitis pigmentosa, Stargardt disease
PRPF3Retinitis pigmentosa
PRPF8Retinitis pigmentosa
PRPF31Retinitis pigmentosa
PRPH2Choriodal dystrophy, central areolar, Macula dystrophy, patterned, Macular dystrophy, vitelliform, Retinitis pigmentosa, Retinitis punctata albescens
RBP3Retinitis pigmentosa
RDH5Fundus albipunctatus
RDH12Leber congenital amaurosis, Retinitis pigmentosa
RGRRetinitis pigmentosa
RHONight blindness, congenital stationary, Retinitis pigmentosa, Retinitis punctata albescens
RLBP1Bothnia retinal dystrophy, Fundus albipunctatus, Newfoundland rod-cone dystrophy, Retinitis punctata albescens
RP1Retinitis pigmentosa
RP2Retinitis pigmentosa
RPE65Leber congenital amaurosis, Retinitis pigmentosa
RPGRRetinitis pigmentosa
RPGRIP1Cone rod dystrophy, Leber congenital amaurosis
RS1Retinoschisis
SAGOguchi disease, Retinitis pigmentosa
SEMA4ACone rod dystrophy, Retinitis pigmentosa
SNRNP200Retinitis pigmentosa
SPATA7Leber congenital amaurosis, Retitinitis pigmentosa
TOPORSRetitinis pigmentosa
TTC8Bardet-Biedl syndrome, Retinitis pigmentosa
TTPAAtaxia with isolated vitamin E deficiency
TULP1Leber congenital amaurosis, Retinitis pigmentosa
USH1CDeafness, Usher syndrome
USH2AUsher syndrome
VPS13BCohen syndrome
WDR19Asphyxiating thoracic dysplasia (ATD; Jeune), Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Nephronophthisis, Retinitis pigmentosa, Senior-Loken syndrome, Short -rib thoracic dysplasia with or without polydactyly
ZNF513Retinitis pigmentosa
Panel de Retinoblastoma Hereditario
RB1Retinoblastoma
Panel de Síndrome de Bardet-Biedl
ALMS1Alström syndrome
ARL6Bardet-Biedl syndrome, Retinitis pigmentosa
BBS1Bardet-Biedl syndrome
BBS2Bardet-Biedl syndrome, Retinitis pigmentosa
BBS4Bardet-Biedl syndrome
BBS5Bardet-Biedl syndrome
BBS7Bardet-Biedl syndrome
BBS9Bardet-Biedl syndrome
BBS10Bardet-Biedl syndrome
BBS12Bardet-Biedl syndrome
CEP290Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome
IFT172Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly
MKKSBardet-Biedl syndrome, McKusick-Kaufman syndrome
MKS1Bardet-Biedl syndrome, Meckel syndrome
SDCCAG8Bardet-Biedl syndrome, Senior-Loken syndrome
TMEM67COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis
TRIM32Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle
TTC8Bardet-Biedl syndrome, Retinitis pigmentosa
Panel de Síndrome de Joubert
AHI1Joubert syndrome
ARL13BJoubert syndrome
B9D1Meckel syndrome
B9D2Meckel syndrome
C5ORF42Joubert syndrome, Orofaciodigital syndrome
CC2D2ACOACH syndrome, Joubert syndrome, Meckel syndrome
CEP41Joubert syndrome
CEP164Nephronophthisis
CEP290Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome
CSPP1Jeune Asphyxiating Thoracic Dystrophy, Joubert syndrome
INPP5EJoubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
KIAA0586Joubert syndrome, Short rib thoracic dysplasia with polydactyly
KIF7Acrocallosal syndrome, Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome, Joubert syndrome
MKS1Bardet-Biedl syndrome, Meckel syndrome
NPHP1Joubert syndrome, Nephronophthisis, Senior-Loken syndrome
NPHP3Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia
OFD1Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome
RPGRIP1LCOACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier
TCTN1Joubert syndrome
TCTN2Joubert syndrome, Meckel syndrome
TCTN3Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome)
TMEM67COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis
TMEM107Joubert syndrome
TMEM138Joubert syndrome
TMEM216Joubert syndrome, Meckel syndrome
TMEM231Joubert syndrome, Meckel syndrome
TMEM237Joubert syndrome
TTC21BAsphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia
ZNF423Joubert syndrome, Nephronophthisis
Panel de Síndrome de Senior-Loken
CEP290Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome
INVSNephronophthisis
IQCB1Senior-Loken syndrome
NPHP1Joubert syndrome, Nephronophthisis, Senior-Loken syndrome
NPHP3Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia
NPHP4Nephronophthisis, Senior-Loken syndrome
SDCCAG8Bardet-Biedl syndrome, Senior-Loken syndrome
Panel de Síndrome de Stickler
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
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
LRP2Donnai-Barrow syndrome, Faciooculoacousticorenal syndrome
VCANWagner disease
Panel de Síndrome de Usher
ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ADGRV1Usher syndrome
CDH23Deafness, Usher syndrome
CIB2Deafness, Usher syndrome
CLRN1Retinitis pigmentosa, Usher syndrome
DFNB31Deafness, Usher syndrome
HARSUsher syndrome
MYO7ADeafness, Usher syndrome
PCDH15Deafness, Usher syndrome
PDZD7Usher syndrome
USH1CDeafness, Usher syndrome
USH1GUsher syndrome
USH2AUsher syndrome
Panel de Vitreorretinopatía
BEST1Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Vitreoretinochoroidopathy
CAPN5Vitreoretinopathy, neovascular inflammatory
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
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
COL18A1Knobloch syndrome
FZD4Exudative vitreoretinopathy, Retinopathy of prematurity
KCNJ13Leber congenital amaurosis, Snowflake vitreoretinal degeneration
LRP5Exudative vitreoretinopathy, Hyperostosis, endosteal, LRP5 primary osteoporosis, Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease
NDPExudative vitreoretinopathy, Norrie disease
NR2E3Enhanced S-cone syndrome, Retinitis pigmentosa
RS1Retinoschisis
TSPAN12Exudative vitreoretinopathy, Retinal dysplasia and severe familial exudative vitreoretinopathy
VCANWagner disease

 

 

Clasificación de Variantes

 

EXOMA.

 

ESTUDIOS DISPONIBLES:

  • Neuropatía Óptica de Leber
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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