Genomics Precision Diagnostic > Ophthalmology Precision Panel > Leber Congenital Amaurosis Precision Panel

Panel de precisión de amaurosis congénita de Leber

La amaurosis congénita de Leber (LCA) pertenece al espectro de distrofias retinianas de aparición temprana. Es un grupo de degeneraciones retinianas hereditarias monogénicas que muestran un inicio temprano y una disfunción visual severa.

Descripción general

Indicaciones

Utilidad clínica

Genes y enfermedades

Metodología

Referencias

Descripción general

La amaurosis congénita de Leber (LCA) pertenece al espectro de distrofias retinianas de aparición temprana. Es un grupo de degeneraciones retinianas hereditarias monogénicas que muestran un inicio temprano y una disfunción visual severa. Aunque es un grupo de enfermedades genéticamente y fenotípicamente heterogéneo, se presenta en los primeros años de vida, con mayor frecuencia antes del año de edad, y se caracteriza por nistagmo errante y visión reducida desde el nacimiento. Los pacientes pueden tener una inteligencia normal, pero los datos han demostrado que hasta un 20% desarrollan discapacidad intelectual. Las causas genéticas de estas enfermedades se deben a mutaciones en genes que desempeñan un papel en el desarrollo y la función de la retina y generalmente se heredan con un patrón autosómico recesivo.
El panel de precisión de amaurosis congénita de Igenomix Leber se puede utilizar para realizar un diagnóstico preciso y directo, así como un diagnóstico diferencial de ceguera que, en última instancia, conduce a un mejor manejo y pronóstico de la enfermedad. Proporciona un análisis completo de los genes involucrados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes involucrados.

Indicaciones

El Panel de Precisión de Amaurosis Congénita Igenomix Leber está indicado para aquellos pacientes con sospecha clínica o diagnóstico con o sin las siguientes manifestaciones:
- Nistagmo
- Respuesta de la pupila amaurótica
- Pérdida visual
- Fotofobia
- Córnea en forma de cono
- Estrabismo
- Catarata
- Pigmento retiniano anormal

Utilidad clínica

La utilidad clínica de este panel es:

La confirmación genética y molecular para un diagnóstico clínico preciso de un paciente sintomático.
Inicio temprano del tratamiento con terapia génica novedosa y atención médica.
Evaluación de riesgos y asesoramiento genético de familiares asintomáticos según modalidad hereditaria.
Detectar nuevos genes que causan enfermedades y una nueva variante en genes que causan enfermedades.

Genes y enfermedades

Ver todos los genes y enfermedades

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ABCA4*	Cone-Rod Dystrophy, Age-Related Macular Degeneration, Retinitis Pigmentosa, Stargardt Disease	AD,AR	100	1392 of 1430
*ABHD12*	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	AR	95.77	21 of 21
*ACBD5*	Retinal Dystrophy With Leukodystrophy	AR	100	3 of 3
*ACOX1*	Mitchell Syndrome, Peroxisomal Acyl-CoA Oxidase Deficiency	AD,AR	96.95	22 of 22
*ADAM9*	Cone Rod Dystrophy	AR	100	10 of 10
*ADGRV1*	Familial Febrile Convulsions, Usher Syndrome, Generalized Epilepsy With Febrile Seizures-Plus	AD,AR	97.53	–
*AHR*	Retinitis Pigmentosa	AR	99.91	2 of 2
*AIPL1*	Leber Congenital Amaurosis, Retinitis Pigmentosa, Cone Rod Dystrophy	AD,AR,X,XR,G	89	82 of 82
*ALMS1*	Alstrom Syndrome	AR	99.92	302 of 305
*AP3B2*	Early Infantile Epileptic Encephalopathy	AR	99.95	11 of 12
*APOB*	Familial Hypobetalipoproteinemia, Homozygous Familial Hypercholesterolemia	AD,AR	99.62	369 of 375
*ARL2BP*	Retinitis Pigmentosa With Or Without Situs Inversus	AR	99.99	7 of 7
*ARL3*	Joubert Syndrome, Retinitis Pigmentosa	AD,AR	99.99	4 of 4
*ARL6*	Bardet-Biedl Syndrome 1, Retinitis Pigmentosa	AD,AR,X,XR,G	100	17 of 21
*ASPA*	Canavan Disease	AR	99.56	93 of 94
*ATF6*	Achromatopsia, Cone Rod Dystrophy	AR	99.98	16 of 16
*ATP6*	Leber Optic Atrophy, Neuropathy, Ataxia, And Retinitis Pigmentosa, Familial Infantile Bilateral Striatal Necrosis, Narp Syndrome	MI	–	–
*ATXN2*	Spinocerebellar Ataxia, Amyotrophic Lateral Sclerosis	AD	91.78	9 of 10
*ATXN7*	Spinocerebellar Ataxia With Retinal Degeneration, Macular Degeneration And External Ophthalmoplegia	AD	94.99	–
*BBIP1*	Bardet-Biedl Syndrome	AR	99.88	1 of 1
*BBS1*	Bardet-Biedl Syndrome	AR	100	102 of 105
*BBS10*	Bardet-Biedl Syndrome	AR	100	114 of 114
*BBS12*	Bardet-biedl Syndrome	AR	99.78	61 of 61
*BBS2*	Bardet-Biedl Syndrome, Retinitis Pigmentosa	AR	100	99 of 100
*BBS4*	Bardet-Biedl Syndrome	AR	100	45 of 48
*BBS5*	Bardet-Biedl Syndrome	AR	99.8	30 of 31
*BBS7*	Bardet-Biedl Syndrome	AR	100	48 of 48
*BBS9*	Bardet-Biedl Syndrome	AR	99.56	50 of 51
*BCS1L*	Bjornstad Syndrome, Gracile Syndrome, Leigh Syndrome, Mitochondrial Complex III Deficiency	AR,MI	99.96	40 of 42
*BEST1*	Bestrophinopathy, Vitelliform Macular Dystrophy, Retinitis Pigmentosa, Vitreoretinochoroidopathy , Adult-Onset Foveomacular Vitelliform Dystrophy	AD,AR	94.35	342 of 344
*C1QTNF5*	Late-Onset Retinal Degeneration ,	AD	99.97	7 of 7
*C8ORF37*	Bardet-Biedl Syndrome, Cone-Rod Dystrophy, Retinitis Pigmentosa	AD,AR,X,XR,G	–	–
*CA4*	Retinitis Pigmentosa	AD	99.97	11 of 11
*CACNA1F*	Aland Island Eye Disease, Cone-Rod Dystrophy, Congenital Stationary Night Blindness	X,XR,G	100	–
*CACNA2D4*	Retinal Cone Dystrophy, Cone Rod Dystrophy, Congenital Stationary Night Blindness	AR	99.64	7 of 7
*CC2D2A*	Coach Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.43	98 of 100
*CCDC103*	Primary Ciliary Dyskinesia	AR	99.92	6 of 6
*CCDC28B*	Bardet-Biedl Syndrome	AR	99.83	1 of 1
*CCDC39*	Primary Ciliary Dyskinesia	AR	99.56	48 of 52
*CCDC40*	Primary Ciliary Dyskinesia	AR	98	50 of 50
*CCDC65*	Primary Ciliary Dyskinesia	AR	99.98	3 of 3
*CCNO*	Primary Ciliary Dyskinesia	AR	99.94	12 of 12
*CDH23*	Usher Syndrome	AD,AR	98	400 of 403
*CDH3*	Eem Syndrome, Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	AR	95	34 of 36
*CDHR1*	Cone-Rod Dystrophy, Retinitis Pigmentosa	AR	99.67	55 of 55
*CEP250*	Cone-Rod Dystrophy And Hearing Loss	AR	99.98	7 of 7
*CEP290*	Bardet-Biedl Syndrome, Joubert Syndrome, Leber Congenital Amaurosis, Meckel Syndrome, Senior- Loken Syndrome	AR	96.47	293 of 327
*CEP78*	Cone-Rod Dystrophy And Hearing Loss, Usher Syndrome	AR	99.44	9 of 10
*CERKL*	Retinitis Pigmentosa	AR	100	46 of 46
*CFAP221*	Primary Ciliary Dyskinesia	–	89.78	–
*CFAP298*	Primary Ciliary Dyskinesia	AR	–	–
*CFAP300*	Primary Ciliary Dyskinesia	AR	–	–
*CFAP410*	Retinal Dystrophy With Or Without Macular Staphyloma, Cone Rod Dystrophy	AR	–	–
*CIB2*	Usher Syndrome	AR	99.95	16 of 17
*CLDN19*	Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	AR	99.96	21 of 21
*CLN3*	Neuronal Ceroid Lipofuscinosis	AR	99.93	73 of 75
*CLRN1*	Retinitis Pigmentosa, Usher Syndrome	AD,AR,X,XR,G	99.99	40 of 41
*CNGA1*	Retinitis Pigmentosa	AD,AR,X,XR,G	99.82	36 of 37
*CNGA3*	Achromatopsia, Cone Rod Dystrophy	AR	99.97	165 of 165
*CNGB1*	Retinitis Pigmentosa	AR	100	75 of 75
*CNNM4*	Cone-Rod Dystrophy And Amelogenesis Imperfecta, Jalili Syndrome	AR	96.86	27 of 27
*COQ2*	Coenzyme Q10 Deficiency, Multiple System Atrophy, Leigh Syndrome With Nephrotic Syndrome	AD,AR	99.61	37 of 38
*CRB1*	Leber Congenital Amaurosis, Pigmented Paravenous Chorioretinal Atrophy, Retinitis Pigmentosa	AD,AR,X,G	99.84	365 of 371
*CRX*	Cone-Rod Dystrophy, Leber Congenital Amaurosis, Retinitis Pigmentosa	AD,AR,X,XR,G	99.91	117 of 117
*CTSD*	Neuronal Ceroid Lipofuscinosis	AR	100	18 of 18
*CWC27*	Retinitis Pigmentosa With Or Without Skeletal Anomalies	AR	99.77	8 of 8
*DHDDS*	Developmental Delay And Seizures With Or Without Movement Abnormalities, Retinitis Pigmentosa	AD,AR	96.32	8 of 8
*DHX38*	Retinitis Pigmentosa	AR	100	4 of 4
*DNAAF1*	Primary Ciliary Dyskinesia	AR	99.55	36 of 37
*DNAAF2*	Primary Ciliary Dyskinesia	AR	97.45	7 of 8
*DNAAF3*	Primary Ciliary Dyskinesia	AR	98.95	13 of 14
*DNAAF4*	Primary Ciliary Dyskinesia	AD,AR	99.27	–
*DNAAF5*	Primary Ciliary Dyskinesia	AR	89.27	–
*DNAAF6*	Primary Ciliary Dyskinesia	X,XR,G	99.63	–
*DNAH1*	Primary Ciliary Dyskinesia	AR	100	58 of 58
*DNAH11*	Primary Ciliary Dyskinesia	AR	99.27	159 of 169
*DNAH5*	Primary Ciliary Dyskinesia	AR	100	277 of 278
*DNAH9*	Primary Ciliary Dyskinesia	AR	98.86	19 of 19
*DNAI1*	Kartagener Syndrome, Primary Ciliary Dyskinesia	AR	96.91	43 of 43
*DNAI2*	Primary Ciliary Dyskinesia	AR	98.89	8 of 8
*DNAJB13*	Primary Ciliary Dyskinesia	AR	99.94	3 of 3
*DNAL1*	Primary Ciliary Dyskinesia	AR	99.43	5 of 5
*DRAM2*	Cone Rod Dystrophy	AR	99.87	13 of 13
*DRC1*	Primary Ciliary Dyskinesia	AR	100	9 of 9
*DYNC2I2*	Jeune Syndrome, Short Rib-Polydactyly Syndrome	AR	99.54	23 of 23
*EXOSC2*	Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	AR	100	3 of 3
*EYS*	Retinitis Pigmentosa	AR	99.54	358 of 379
*FAM161A*	Retinitis Pigmentosa	AR	99.74	22 of 23
*FDXR*	Auditory Neuropathy And Optic Atrophy	AR	99.93	23 of 23
*FLVCR1*	Posterior Column Ataxia With Retinitis Pigmentosa	AR	99.96	26 of 26
*FOXJ1*	Primary Ciliary Dyskinesia	AD	99.69	5 of 5
*FSCN2*	Retinitis Pigmentosa	AD	98.93	16 of 17
*GAS2L2*	Primary Ciliary Dyskinesia	AR	89	4 of 5
*GAS8*	Primary Ciliary Dyskinesia	AR	99.98	6 of 6
*GATA3*	Hypoparathyroidism- Sensorineural Deafness- Renal Disease Syndrome	AD	100	81 of 81
*GGCX*	Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	AR	100	62 of 62
*GUCA1A*	Cone Dystrophy, Central Areolar Choroidal Dystrophy , Cone Rod Dystrophy	AD	99.94	27 of 27
*GUCA1B*	Retinitis Pigmentosa	AD	100	10 of 10
*GUCY2D*	Central Areolar Choroidal Dystrophy, Cone-Rod Dystrophy, Leber Congenital Amaurosis, Night Blindness, Congenital Stationary	AD,AR	99.98	248 of 248
*HGSNAT*	Mucopolysaccharidosis Type IIIc, Retinitis Pigmentosa	AR	87.91	69 of 73
*HK1*	Neurodevelopmental Disorder With Visual Defects And Brain Anomalies, Retinitis Pigmentosa	AD,AR	100	14 of 17
*HMX1*	Oculoauricular Syndrome	AR	85.58	2 of 2
*HSPD1*	Autosomal Recessive Hypomyelinating Leukodystrophy	AD,AR	100	7 of 7
*HYDIN*	Primary Ciliary Dyskinesia	AR	81.7	45 of 63
*IDH3B*	Retinitis Pigmentosa	AR	100	5 of 5
*IFT140*	Retinitis Pigmentosa, Jeune Syndrome, Leber Congenital Amaurosis	AR	99.97	81 of 81
*IFT172*	Retinitis Pigmentosa, Bardet-Biedl Syndrome, Jeune Syndrome	AR	100	37 of 37
*IFT27*	Bardet-Biedl Syndrome	AR	100	5 of 5
*IFT74*	Bardet-Biedl Syndrome	AR	99.95	6 of 6
*IMPDH1*	Leber Congenital Amaurosis, Retinitis Pigmentosa	AD	99.98	29 of 29
*IMPG2*	Vitelliform Macular Dystrophy, Retinitis Pigmentosa	AD,AR	99.7	46 of 46
*IQCB1*	Senior-Loken Syndrome, Leber Congenital Amaurosis	AR	99.98	43 of 43
*KCNV2*	Retinal Cone Dystrophy	AR	99.98	86 of 88
*KIF3B*	Retinitis Pigmentosa	AD	99.92	–
*KIF5A*	Autosomal Dominant Spastic Paraplegia	AD	100	85 of 85
*KIZ*	Retinitis Pigmentosa	AR	na	–
*KLHL7*	Retinitis Pigmentosa, Bohring-Opitz Syndrome	AD,AR	98.69	19 of 19
*KNTC1*	Orbital Plasma Cell Granuloma, Chronic Orbital Inflammation, Mikulicz Disease	–	99.89	–
*LRAT*	Leber Congenital Amaurosis, Retinitis Pigmentosa	AD,AR,X,XR,G	100	25 of 25
*LRRC56*	Primary Ciliary Dyskinesia	AR	99.77	5 of 5
*LRRC6*	Primary Ciliary Dyskinesia	AR	99.88	21 of 21
*LZTFL1*	Bardet-Biedl Syndrome	AR	99.83	4 of 4
*MAK*	Retinitis Pigmentosa	AR	100	28 of 28
*MAPKAPK3*	Macular Dystrophy	AD	99.98	2 of 2
*MCIDAS*	Primary Ciliary Dyskinesia	AR	99.92	4 of 4
*MDH2*	Early Infantile Epileptic Encephalopathy	AR	98	11 of 11
*MERTK*	Retinitis Pigmentosa	AR	100	99 of 101
*MFRP*	Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disc Drusen, Nanophthalmos	AR	100	36 of 36
*MKKS*	Bardet-Biedl Syndrome, Mckusick-Kaufman Syndrome	AR	89.96	71 of 71
*MKS1*	Bardet-Biedl Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.98	49 of 49
*MTTP*	Abdominal Obesity- Metabolic Syndrome, Abetalipoproteinemia	AD,AR	100	69 of 71
*MVK*	Mevalonic Aciduriamevalonate Kinase Deficiency	AD,AR	100	180 of 181
*MYO6*	Autosomal Dominant and Recessive Deafness	AD,AR	100	74 of 75
*MYO7A*	Autosomal Dominant Deafness, Usher Syndrome	AD,AR	100	579 of 580
*ND1*	Leber Optic Atrophy, Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Isolated Complex I Deficiency	MI	–	–
*ND2*	Leber Optic Atrophy, Isolated Complex I Deficiency, Mitochondrial DNA-Associated Leigh Syndrome	MI	85.56	–
*ND3*	Isolated Complex I Deficiency, Mitochondrial DNA-Associated Leigh Syndrome		99.99	–
*ND4*	Leber Optic Atrophy, Leber Hereditary Optic Neuropathy, Mitochondrial DNA- Associated Leigh Syndrome	MI	–	–
*ND5*	Leber Optic Atrophy, Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes	MI	99.89	–
*ND6*	Leber Optic Atrophy, Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes	MI	100	–
*NDUFA9*	Mitochondrial Complex I Deficiency, Leigh Syndrome With Leukodystrophy	AR	99.98	3 of 3
*NEK10*	Primary Ciliary Dyskinesia	AR	99.95	3 of 3
*NEK2*	Retinitis Pigmentosa	AR	99.94	5 of 5
*NGLY1*	Congenital Disorder Of Glycosylation Type IV, Alacrimia- Choreoathetosis-Liver Dysfunction Syndrome	AR	99.8	28 of 28
*NME8*	Primary Ciliary Dyskinesia	AR	99.99	9 of 9
*NMNAT1*	Cone Rod Dystrophy, Leber Congenital Amaurosis	AR	98.94	72 of 75
*NPHP1*	Joubert Syndrome, Senior-Loken Syndrome, Bardet-Biedl Syndrome	AR	100	58 of 59
*NPHP4*	Senior-Loken Syndrome	AR	99.96	118 of 119
*NR2E3*	Enhanced S-Cone Syndrome, Retinitis Pigmentosa	AD,AR	–	–
*NRL*	Retinitis Pigmentosa	AD	99.81	25 of 25
*ODAD1*	Primary Ciliary Dyskinesia	AR	99.68	10 of 10
*ODAD2*	Primary Ciliary Dyskinesia	AR	97.3	26 of 28
*ODAD3*	Primary Ciliary Dyskinesia	AR	95	4 of 4
*ODAD4*	Primary Ciliary Dyskinesia	AR	–	–
*OFD1*	Joubert Syndrome, Orofaciodigital Syndrome, Retinitis Pigmentosa, Simpson-Golabi–Behmel Syndrome, Primary Ciliary Dyskinesia	X,XR,XD,G	98.09	–
*OPN1LW*	Blue Cone Monochromacy, Colorblindness, Cone Rod Dystrophy	X,XR,G	88	–
*OPN1MW*	Blue Cone Monochromacy, Colorblindness, Cone Rod Dystrophy	X,XR,G	41.73	–
*PANK2*	Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa And Pallidal Degeneration , Classic Pantothenate Kinase- Associated Neurodegeneration	AR	98.92	177 of 182
*PCARE*	Retinitis Pigmentosa	AR	–	–
*PCDH15*	Usher Syndrome	AR	99.36	152 of 158
*PCYT1A*	Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy, Leber Congenital Amaurosis	AR	99.98	22 of 22
*PDE6A*	Retinitis Pigmentosa	AR	100	75 of 75
*PDE6B*	Retinitis Pigmentosa, Congenital Stationary Night Blindness	AD,AR	100	156 of 156
*PDE6C*	Cone Dystrophy, Achromatopsia, Progressive Cone Dystrophy	AR	100	63 of 63
*PDE6G*	Retinitis Pigmentosa	AD,AR,X,XR,G	100	2 of 2
*PDE6H*	Retinal Cone Dystrophy, Achromatopsia	AD,AR	100	2 of 2
*PDZD7*	Usher Syndrome	AR	100	28 of 28
*PEX1*	Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects, Peroxisome Biogenesis Disorder, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy	AR	97.02	126 of 134
*PEX10*	Peroxisome Biogenesis Disorder, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy	AR	99.76	29 of 32
*PEX11B*	Peroxisome Biogenesis Disorder, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy	AR	90.29	7 of 7
*PEX12*	Peroxisome Biogenesis Disorder, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy	AR	100	38 of 38
*PEX13*	Peroxisome Biogenesis Disorder, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy	AR	99.98	11 of 12
*PEX14*	Peroxisome Biogenesis Disorder, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy	AR	100	4 of 4
*PEX16*	Peroxisome Biogenesis Disorder, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy	AR	100	17 of 17
*PEX19*	Peroxisome Biogenesis Disorder, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy	AR	100	5 of 5
*PEX2*	Peroxisome Biogenesis Disorder, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy	AR	99.89	17 of 17
*PEX26*	Peroxisome Biogenesis Disorder, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy	AR	100	29 of 29
*PEX3*	Peroxisome Biogenesis Disorder, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy	AR	100	9 of 9
*PEX5*	Adrenoleukodystrophy, Cerebrohepatorenal, Infantile Refsum Disease Neonatal Adrenoleukodystrophy	AR	100	12 of 12
*PEX6*	Heimler Syndrome, Peroxisome Biogenesis Disorder, Autosomal Recessive Spinocerebellar Ataxia-Blindness- Deafness Syndrome, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy	AD,AR	99.94	105 of 108
*PEX7*	Peroxisome Biogenesis Disorder, Refsum Disease	AR	99.21	47 of 53
*PHYH*	Refsum Disease	AR	100	34 of 34
*PITPNM3*	Cone-Rod Dystrophy	AD	99.8	7 of 7
*PMM2*	Congenital Disorder Of Glycosylation Type Ia	AR	100	127 of 129
*POC1B*	Cone Rod Dystrophy	AR	99.87	10 of 10
*POGZ*	White-Sutton Syndrome, Intellectual Disability- Microcephaly-Strabismus- Behavioral Abnormalities Syndrome	AD	99.97	85 of 85
*PPP2R3C*	Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy	AD,AR	99.85	3 of 3
*PRCD*	Retinitis Pigmentosa	AR	100	7 of 7
*PROM1*	Cone-Rod Dystrophy, Macular Dystrophy, Retinal, Retinitis Pigmentosa, Stargardt Disease, Cone Rod Dystrophy	AD,AR	99.61	90 of 93
*PRPF3*	Retinitis Pigmentosa	AD	100	8 of 9
*PRPF31*	Retinitis Pigmentosa	AD	100	160 of 166
*PRPF4*	Retinitis Pigmentosa	AD	99.99	5 of 5
*PRPF6*	Retinitis Pigmentosa	AD	100	14 of 14
*PRPF8*	Retinitis Pigmentosa	AD	100	58 of 58
*PRPH2*	Central Areolar Choroidal Dystrophy, Fundus Albipunctatusretinitis Punctata Albescens, Vitelliform Macular Dystrophy, Patterned Dystrophy Of Retinal Pigment Epithelium, Retinitis Pigmentosa, Adult-Onset Foveomacular Vitelliform Dystrophy, Retinitis Punctata Albescens, Stargardt Disease	AD,AR	100	188 of 188
*PRPS1*	Arts Syndrome, Phosphoribosylpyrophosphate Synthetase Superactivity, Lethal Ataxia With Deafness And Optic Atrophy	X,XR,G	100	–
*RAB28*	Cone Rod Dystrophy	AR	100	6 of 6
*RAX2*	Age-Related Macular Degeneration, Cone Rod Dystrophy	AD	99.89	7 of 9
*RBP3*	Retinitis Pigmentosa	AD,AR,X,XR,G	100	17 of 17
*RDH11*	Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	AR	99.97	3 of 3
*REEP6*	Retinitis Pigmentosa	AR	97.59	9 of 9
*RGR*	Retinitis Pigmentosa	AD,AR	100	9 of 9
*RHO*	Fundus Albipunctatusretinitis Punctata Albescens, Congenital Stationary Night Blindness, Retinitis Pigmentosa	AD,AR	100	229 of 229
*RIMS1*	Cone Rod Dystrophy	AD	98.2	24 of 24
*RLBP1*	Bothnia Retinal Dystrophy, Fundus Albipunctatusretinitis Punctata Albescens, Newfoundland Rod-Cone Dystrophy, Retinitis Pigmentosa	AD,AR	100	32 of 33
*ROM1*	Retinitis Pigmentosa	AD,AR,X,XR,G	100	20 of 20
*RP1*	Retinitis Pigmentosa	AD,AR	99.95	215 of 218
*RP2*	Retinitis Pigmentosa	X,G	99.98	–
*RP9*	Retinitis Pigmentosa	AD	97.78	4 of 4
*RPE65*	Leber Congenital Amaurosis, Retinitis Pigmentosa, Leber Congenital Amaurosis	AD,AR	100	231 of 231
*RPGR*	Cone-Rod Dystrophy, X-linked Atrophic Macular Degeneration, Retinitis Pigmentosa, And Sinorespiratory Infections, Withor Without Deafness, Achromatopsia, Cone Rod Dystrophy, Primary Ciliary Dyskinesia	X,XR,G	94	–
*RPGRIP1*	Cone-Rod Dystrophy, Leber Congenital Amaurosis, Meckel Syndrome	AR	99.33	146 of 159
*RPL10*	X-linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo– Epiphyseal Dysplasia Syndrome	X,XR,G	100	–
*RSPH1*	Primary Ciliary Dyskinesia	AR	100	10 of 10
*RSPH3*	Primary Ciliary Dyskinesia	AR	99.85	5 of 5
*RSPH4A*	Primary Ciliary Dyskinesia	AR	99.98	27 of 27
*RSPH9*	Primary Ciliary Dyskinesia	AR	100	13 of 13
*SAG*	Oguchi Disease, Retinitis Pigmentosa, Congenital Stationary Night Blindness	AR	100	18 of 18
*SDCCAG8*	Bardet-Biedl Syndrome, Senior-Loken Syndrome	AR	96.29	18 of 19
*SEMA4A*	Cone-Rod Dystrophy, Retinitis Pigmentosa	AD,AR	99.94	15 of 15
*SH2B1*	Distal 16p11.2 Microdeletion Syndrome, Proximal 16p11.2 Microdeletion Syndrome	–	99.98	25 of 25
*SLC19A2*	Thiamine-Responsive Megaloblastic Anemia Syndrome	AR	99.99	67 of 68
*SLC35A2*	Congenital Disorder Of Glycosylation	X,XD,G	99.97	–
*SLC7A14*	Retinitis Pigmentosa	AR	99.97	10 of 10
*SNRNP200*	Retinitis Pigmentosa	AD	100	40 of 40
*SPAG1*	Primary Ciliary Dyskinesia	AR	94.8	11 of 12
*SPEF2*	Primary Ciliary Dyskinesia	AR	99.6	10 of 13
*SRD5A3*	Congenital Disorder Of Glycosylation , Kahrizi Syndrome	AR	100	15 of 15
*STK36*	Primary Ciliary Dyskinesia		100	5 of 5
*TELO2*	You-Hoover-Fong Syndrome, Telo2- related Intellectual Disability- neurodevelopmental Disorder	AR	99.98	8 of 8
*TMEM67*	Bardet-Biedl Syndrome, Coach Syndrome, Joubert Syndrome, Meckel Syndrome, Rhyns Syndrome	AR	96.93	177 of 179
*TOPORS*	Retinitis Pigmentosa	AD	99.96	24 of 25
*TRAF3IP1*	Senior-Loken Syndrome	AR	97.54	15 of 15
*TRNK*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Myoclonic Epilepsy Associated With Ragged-Red Fibers, Mitochondrial DNA-Associated Leigh Syndrome	MI	–	–
*TRNL1*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Myoclonic Epilepsy Associated With Ragged-Red Fibers, Kearns-Sayre Syndrome, Mitochondrial DNA-Associated Leigh Syndrome	MI	–	–
*TRNT1*	Retinitis Pigmentosa And Erythrocytic Microcytosis	AR	99.47	22 of 27
*TRNV*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Mitochondrial DNA- Associated Leigh Syndrome	MI	–	–
*TRNW*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Mitochondrial Myopathy, Episodic, With Optic Atrophy And Reversible Leukoencephalopathy, Mitochondrial DNA-Associated Leigh Syndrome	AR,MI	–	–
*TTC12*	Primary Ciliary Dyskinesia	AR	99.97	–
*TTC8*	Bardet-Biedl Syndrome, Retinitis Pigmentosa	AR	99.33	28 of 28
*TTLL5*	Cone Rod Dystrophy	AR	99.95	15 of 15
*TULP1*	Leber Congenital Amaurosis, Retinitis Pigmentosa	AR	99.9	82 of 82
*UNC119*	Immunodeficiency, Cone Rod Dystrophy	AD	100	6 of 6
*USH1C*	Deafness, Neurosensory, Autosomal Recessive, Usher Syndrome	AR	99.97	79 of 79
*USH1G*	Usher Syndrome	AR	100	35 of 35
*USH2A*	Retinitis Pigmentosa, Usher Syndrome, Retinitis Pigmentosa	AR	100	1286 of 1314
*WARS2*	Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures, Wars2- Related Combined Oxidative Phosphorylation Defect	AR	99.95	14 of 15
*WDR19*	Senior-Loken Syndrome, Jeune Syndrome	AR	99.96	47 of 49
*WHRN*	Usher Syndrome	AR	99.94	NA–
*ZMYND10*	Primary Ciliary Dyskinesia	AR	99.98	16 of 16
*ZNF408*	Exudative Vitreoretinopathy, Retinitis Pigmentosa	AD,AR	99.98	26 of 26
*ZNF513*	Retinitis Pigmentosa	AR	99.97	3 of 3

* Herencia: AD: Autosómico Dominante; AR: autosómico recesivo; X: ligado a X; XLR: recesivo vinculado a X; Mi: mitocondrial; Mu: multifactorial; G: herencia gonosomal; D: herencia digénica

** HGMD: número de mutaciones clínicamente relevantes según HGMD

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