PANELES:
Consulte por todos nuestros paneles y nuestros paneles customizables.
Panel de Acidosis Tubular Renal
| ATP6V1B1 | Renal tubular acidosis with deafness |
| ATP6V0A4 | Renal tubular acidosis, distal |
| CA2 | Osteopetrosis, with renal tubular acidosis |
| SLC4A1 | Cryohydrocytosis, Ovalcytosis, Renal tubular acidosis, distal, with hemolytic anemia, Spherocytosis |
| SLC4A4 | Renal tubular acidosis, proximal |
Panel de Ciliopatía
| AHI1 | Joubert syndrome |
| ALMS1 | Alström syndrome |
| ANKS6 | Nephronophthisis |
| ARL6 | Bardet-Biedl syndrome, Retinitis pigmentosa |
| ARL13B | Joubert syndrome |
| ARMC4 | Ciliary dyskinesia |
| B9D1 | Meckel syndrome |
| B9D2 | Meckel syndrome |
| BBS1 | Bardet-Biedl syndrome |
| BBS2 | Bardet-Biedl syndrome, Retinitis pigmentosa |
| BBS4 | Bardet-Biedl syndrome |
| BBS5 | Bardet-Biedl syndrome |
| BBS7 | Bardet-Biedl syndrome |
| BBS9 | Bardet-Biedl syndrome |
| BBS10 | Bardet-Biedl syndrome |
| BBS12 | Bardet-Biedl syndrome |
| C5ORF42 | Joubert syndrome, Orofaciodigital syndrome |
| C21ORF59 | Ciliary dyskinesia |
| CC2D2A | COACH syndrome, Joubert syndrome, Meckel syndrome |
| CCDC39 | Ciliary dyskinesia |
| CCDC40 | Ciliary dyskinesia |
| CCDC65 | Ciliary dyskinesia |
| CCDC103 | Ciliary dyskinesia |
| CCDC114 | Ciliary dyskinesia |
| CCNO | Ciliary dyskinesia |
| CENPF | Ciliary dyskinesia -Lethal Ciliopathy |
| CEP41 | Joubert syndrome |
| CEP83 | Nephronophthisis |
| CEP164 | Nephronophthisis |
| CEP290 | Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome |
| CFTR | Cystic fibrosis |
| CSPP1 | Jeune Asphyxiating Thoracic Dystrophy, Joubert syndrome |
| DCDC2 | Deafness |
| DNAAF1 | Ciliary dyskinesia |
| DNAAF2 | Ciliary dyskinesia |
| DNAAF3 | Primary ciliary dyskinesia |
| DNAAF5 | Ciliary dyskinesia |
| DNAH5 | Ciliary dyskinesia |
| DNAH11 | Ciliary dyskinesia |
| DNAI1 | Ciliary dyskinesia |
| DNAI2 | Ciliary dyskinesia |
| DNAL1 | Ciliary dyskinesia |
| DRC1 | Primary ciliary dyskinesia |
| DYX1C1 | Ciliary dyskinesia |
| GLIS2 | Nephronophthisis |
| HYDIN | Primary ciliary dyskinesia |
| IFT172 | Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly |
| INPP5E | Joubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome) |
| INVS | Nephronophthisis |
| IQCB1 | Senior-Loken syndrome |
| KIAA0586 | Joubert syndrome, Short rib thoracic dysplasia with polydactyly |
| KIF7 | Acrocallosal syndrome, Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome, Joubert syndrome |
| LRRC6 | Ciliary dyskinesia |
| MKKS | Bardet-Biedl syndrome, McKusick-Kaufman syndrome |
| MKS1 | Bardet-Biedl syndrome, Meckel syndrome |
| NEK8 | Nephronophthisis |
| NME8 | Ciliary dyskinesia |
| NPHP1 | Joubert syndrome, Nephronophthisis, Senior-Loken syndrome |
| NPHP3 | Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia |
| NPHP4 | Nephronophthisis, Senior-Loken syndrome |
| OFD1 | Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome |
| RPGR | Retinitis pigmentosa |
| RPGRIP1L | COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier |
| RSPH1 | Ciliary dyskinesia |
| RSPH4A | Ciliary dyskinesia |
| RSPH9 | Ciliary dyskinesia |
| SDCCAG8 | Bardet-Biedl syndrome, Senior-Loken syndrome |
| SPAG1 | Primary ciliary dyskinesia |
| TCTN1 | Joubert syndrome |
| TCTN2 | Joubert syndrome, Meckel syndrome |
| TCTN3 | Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome) |
| TMEM67 | COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis |
| TMEM107 | Joubert syndrome |
| TMEM138 | Joubert syndrome |
| TMEM216 | Joubert syndrome, Meckel syndrome |
| TMEM231 | Joubert syndrome, Meckel syndrome |
| TMEM237 | Joubert syndrome |
| TRIM32 | Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle |
| TTC8 | Bardet-Biedl syndrome, Retinitis pigmentosa |
| TTC21B | Asphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia |
| WDR19 | Asphyxiating 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 |
| ZMYND10 | Ciliary dyskinesia |
| ZNF423 | Joubert syndrome, Nephronophthisis |
Panel de Diabetes Insípida
| AQP2 | Diabetes insipidus, nephrogenic |
| AVP | Diabetes insipidus, neurohypophyseal |
| AVPR2 | Diabetes insipidus, nephrogenic |
Panel de Disquinesia Ciliar Primaria
| ARMC4 | Ciliary dyskinesia |
| C21ORF59 | Ciliary dyskinesia |
| CCDC39 | Ciliary dyskinesia |
| CCDC40 | Ciliary dyskinesia |
| CCDC65 | Ciliary dyskinesia |
| CCDC103 | Ciliary dyskinesia |
| CCDC114 | Ciliary dyskinesia |
| CCNO | Ciliary dyskinesia |
| CENPF | Ciliary dyskinesia -Lethal Ciliopathy |
| CFTR | Cystic fibrosis |
| DNAAF1 | Ciliary dyskinesia |
| DNAAF2 | Ciliary dyskinesia |
| DNAAF3 | Primary ciliary dyskinesia |
| DNAAF5 | Ciliary dyskinesia |
| DNAH5 | Ciliary dyskinesia |
| DNAH11 | Ciliary dyskinesia |
| DNAI1 | Ciliary dyskinesia |
| DNAI2 | Ciliary dyskinesia |
| DNAL1 | Ciliary dyskinesia |
| DRC1 | Primary ciliary dyskinesia |
| DYX1C1 | Ciliary dyskinesia |
| HYDIN | Primary ciliary dyskinesia |
| INVS | Nephronophthisis |
| LRRC6 | Ciliary dyskinesia |
| NME8 | Ciliary dyskinesia |
| OFD1 | Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome |
| RPGR | Retinitis pigmentosa |
| RSPH1 | Ciliary dyskinesia |
| RSPH4A | Ciliary dyskinesia |
| RSPH9 | Ciliary dyskinesia |
| SPAG1 | Primary ciliary dyskinesia |
| ZMYND10 | Ciliary dyskinesia |
Panel de Enfermedad del Riñón Poliquístico
| DNAJB11 | Autosomal dominant polycystic kidney disease |
| DZIP1L | Polycystic kidney disease 5 |
| GANAB | Polycystic kidney and/or polycystic liver disease 3 |
| HNF1B | Renal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndrome |
| JAG1 | Alagille syndrome |
| LRP5 | Exudative vitreoretinopathy, Hyperostosis, endosteal, LRP5 primary osteoporosis, Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease |
| NOTCH2 | Alagille syndrome, Hajdu-Cheney syndrome |
| PKD1 | Polycystic kidney disease |
| PKD2 | Polycystic kidney disease |
| PKHD1 | Polycystic kidney disease |
| PRKCSH | Polycystic liver disease |
| SEC63 | Polycystic liver disease |
Panel de Enfermedades Quísticas del Riñón
| BICC1 | Renal dysplasia, cystic |
| EYA1 | Branchiootic syndrome, Branchiootorenal syndrome, Otofaciocervical syndrome |
| HNF1B | Renal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndrome |
| PAX2 | Isolated renal hypoplasia, Papillorenal syndrome |
| PKD1 | Polycystic kidney disease |
| PKD2 | Polycystic kidney disease |
| PKHD1 | Polycystic kidney disease |
| SIX5 | Branchiootorenal syndrome |
| UMOD | Familial juvenile hyperuricemic nephropathy, Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
Panel de Hiperoxaluria Primaria
| AGXT | Hyperoxaluria |
| GRHPR | Hyperoxaluria |
| HOGA1 | Hyperoxaluria |
Panel de Hipertensión Arterial Pulmonar
Panel de Hipomagnesemia
| CLDN16 | Hypomagnesemia, renal |
| CLDN19 | Hypomagnesemia, renal |
| CNNM1 | Hypomagnesemia |
| CNNM2 | Hypomagnesemia, renal |
| CNNM4 | Jalili syndrome |
| EGF | Hypomagnesemia, renal |
| FXYD2 | Hypomagnesemia, renal |
| HNF1B | Renal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndrome |
| KCNA1 | Episodic ataxia/myokymia syndrome |
| MAGT1 | Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia |
| MMGT1 | Hypomagnesemia |
| NIPA2 | Hypomagnesemia |
| SLC12A3 | Gitelman syndrome |
| SLC41A2 | Hypomagnesemia |
| SLC41A3 | Hypomagnesemia |
| TRPM6 | Hypomagnesemia, intestinal |
| TRPM7 | Amyotrophic lateral sclerosis-parkinsonism-dementia complex |
Panel de Malformaciones Renales
| ACE | ACE serum levels, Renal tubular dysgenesis |
| BMP4 | Microphthalmia, syndromic, Orofacial cleft |
| DSTYK | Congenital anomalies of the kidney and urinary tract |
| EYA1 | Branchiootic syndrome, Branchiootorenal syndrome, Otofaciocervical syndrome |
| FANCB | Fanconi anemia |
| FOXC2 | Lymphedema-distichiasis syndrome |
| FREM1 | Bifid nose, Manitoba oculotrichoanal syndrome, Trigonocephaly |
| GATA3 | Hypomagnesemia, renal |
| HNF1B | Renal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndrome |
| PAX2 | Isolated renal hypoplasia, Papillorenal syndrome |
| REN | Hyperuricemic nephropathy |
| RET | Central hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma |
| SIX1 | Branchiootic syndrome, Branchiootorenal syndrome, Deafness |
| SIX5 | Branchiootorenal syndrome |
| WT1 | Denys-Drash syndrome, Frasier syndrome, Wilms tumor |
Panel de Nefronoptisis
| ANKS6 | Nephronophthisis |
| CEP83 | Nephronophthisis |
| CEP164 | Nephronophthisis |
| CEP290 | Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome |
| DCDC2 | Deafness |
| GLIS2 | Nephronophthisis |
| IFT172 | Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly |
| INVS | Nephronophthisis |
| IQCB1 | Senior-Loken syndrome |
| NEK8 | Nephronophthisis |
| NPHP1 | Joubert syndrome, Nephronophthisis, Senior-Loken syndrome |
| NPHP3 | Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia |
| NPHP4 | Nephronophthisis, Senior-Loken syndrome |
| RPGRIP1L | COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier |
| SDCCAG8 | Bardet-Biedl syndrome, Senior-Loken syndrome |
| TMEM67 | COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis |
| TTC21B | Asphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia |
| WDR19 | Asphyxiating 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 |
| ZNF423 | Joubert syndrome, Nephronophthisis |
Panel de Obesidad Monogénica
| ALMS1 | Alström syndrome |
| ARL6 | Bardet-Biedl syndrome, Retinitis pigmentosa |
| BBS1 | Bardet-Biedl syndrome |
| BBS2 | Bardet-Biedl syndrome, Retinitis pigmentosa |
| BBS4 | Bardet-Biedl syndrome |
| BBS5 | Bardet-Biedl syndrome |
| BBS7 | Bardet-Biedl syndrome |
| BBS9 | Bardet-Biedl syndrome |
| BBS10 | Bardet-Biedl syndrome |
| BBS12 | Bardet-Biedl syndrome |
| CEP290 | Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome |
| CRTC1 | Mucoepidermoid salivary gland carcinoma |
| CUL4B | Mental retardation, syndromic, Cabezas |
| DYRK1B | Abdominal obesity-metabolic syndrome |
| GNAS | Albright hereditary osteodystrophy, McCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism |
| LEP | Leptin deficiency |
| LEPR | Leptin receptor deficiency |
| MAGEL2 | Schaaf-Yang syndrome (Prader-Willi-like syndrome) |
| MC3R | Obesity due to MC3R deficiency |
| MC4R | Obesity |
| MKKS | Bardet-Biedl syndrome, McKusick-Kaufman syndrome |
| MKS1 | Bardet-Biedl syndrome, Meckel syndrome |
| NR0B2 | Obesity, mild, early-onset |
| NTRK2 | Obesity, hyperphagia, and developmental delay |
| PCSK1 | Proprotein convertase 1/3 deficiency |
| PHF6 | Borjeson-Forssman-Lehmann syndrome |
| POMC | Proopiomelanocortin deficiency |
| PPARG | Insulin resistance, Lipodystrophy, familial, partial |
| PYY | Obesity |
| SDCCAG8 | Bardet-Biedl syndrome, Senior-Loken syndrome |
| SIM1 | 6q16 deletion syndrome, Obesity due to SIM1 deficiency, Prader-Willi-like syndrome |
| TRIM32 | Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle |
| TTC8 | Bardet-Biedl syndrome, Retinitis pigmentosa |
| UCP3 | Obesity, severe, and type II diabetes |
| VPS13B | Cohen syndrome |
| WDPCP | Bardet-Biedl syndrome, Congenital heart defects, hamartomas of tongue, and polysyndactyly, Meckel-Gruber syndrome, modifier |
Panel de Pseudohipoaldosteronismo
| CUL3 | Pseudohypoaldosteronism |
| HSD11B2 | Cortisol 11-beta-ketoreductase deficiency |
| KLHL3 | Pseudohypoaldosteronism |
| NR3C2 | Hypertension, early-onset, with exacerbation in pregnancy, Pseudohypoaldosteronism |
| SCNN1A | Bronchiectasis with or without elevated sweat chloride, Pseudohypoaldosteronism |
| SCNN1B | Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism |
| SCNN1G | Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism |
| WNK1 | Neuropathy, hereditary sensory and autonomic, Pseudohypoaldosteronism |
| WNK4 | Pseudohypoaldosteronism |
Panel de Raquitismo Hipofosfatémico
| CLCN5 | Dent disease, Hypophosphatemic rickets,, Nephrolithiasis, I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis |
| DMP1 | Hypophosphatemic rickets |
| ENPP1 | Arterial calcification, Hypophosphatemic rickets |
| FAH | Tyrosinemia |
| FGF23 | Hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic |
| KL | Tumoral calcinosis, hyperphosphatemic |
| PHEX | Hypophosphatemic rickets |
| SLC34A1 | Fanconi renotubular syndrome, Nephrolithiasis/osteoporosis, hypophosphatemic |
| SLC34A3 | Hypophosphatemic rickets with hypercalciuria |
| VDR | Vitamin D-dependent rickets |
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 de Bardet-Biedl
| ALMS1 | Alström syndrome |
| ARL6 | Bardet-Biedl syndrome, Retinitis pigmentosa |
| BBS1 | Bardet-Biedl syndrome |
| BBS2 | Bardet-Biedl syndrome, Retinitis pigmentosa |
| BBS4 | Bardet-Biedl syndrome |
| BBS5 | Bardet-Biedl syndrome |
| BBS7 | Bardet-Biedl syndrome |
| BBS9 | Bardet-Biedl syndrome |
| BBS10 | Bardet-Biedl syndrome |
| BBS12 | Bardet-Biedl syndrome |
| CEP290 | Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome |
| IFT172 | Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly |
| MKKS | Bardet-Biedl syndrome, McKusick-Kaufman syndrome |
| MKS1 | Bardet-Biedl syndrome, Meckel syndrome |
| SDCCAG8 | Bardet-Biedl syndrome, Senior-Loken syndrome |
| TMEM67 | COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis |
| TRIM32 | Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle |
| TTC8 | Bardet-Biedl syndrome, Retinitis pigmentosa |
Panel de Síndrome de Bartter
| BSND | Bartter syndrome, Sensorineural deafness with mild renal dysfunction |
| CASR | Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism, Hypocalcemia, Neonatal hyperparathyroidism |
| CLCNKA | Bartter syndrome |
| CLCNKB | Bartter syndrome |
| GNA11 | Hypocalcemia, Hypocalciuric hypercalcemia |
| KCNJ1 | Bartter syndrome, antenatal |
| SLC12A1 | Bartter syndrome, antenatal |
| SLC12A3 | Gitelman 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 Joubert
| AHI1 | Joubert syndrome |
| ARL13B | Joubert syndrome |
| B9D1 | Meckel syndrome |
| B9D2 | Meckel syndrome |
| C5ORF42 | Joubert syndrome, Orofaciodigital syndrome |
| CC2D2A | COACH syndrome, Joubert syndrome, Meckel syndrome |
| CEP41 | Joubert syndrome |
| CEP164 | Nephronophthisis |
| CEP290 | Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome |
| CSPP1 | Jeune Asphyxiating Thoracic Dystrophy, Joubert syndrome |
| INPP5E | Joubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome) |
| KIAA0586 | Joubert syndrome, Short rib thoracic dysplasia with polydactyly |
| KIF7 | Acrocallosal syndrome, Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome, Joubert syndrome |
| MKS1 | Bardet-Biedl syndrome, Meckel syndrome |
| NPHP1 | Joubert syndrome, Nephronophthisis, Senior-Loken syndrome |
| NPHP3 | Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia |
| OFD1 | Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome |
| RPGRIP1L | COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier |
| TCTN1 | Joubert syndrome |
| TCTN2 | Joubert syndrome, Meckel syndrome |
| TCTN3 | Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome) |
| TMEM67 | COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis |
| TMEM107 | Joubert syndrome |
| TMEM138 | Joubert syndrome |
| TMEM216 | Joubert syndrome, Meckel syndrome |
| TMEM231 | Joubert syndrome, Meckel syndrome |
| TMEM237 | Joubert syndrome |
| TTC21B | Asphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia |
| ZNF423 | Joubert syndrome, Nephronophthisis |
Panel de Síndrome de Liddles
| SCNN1B | Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism |
| SCNN1G | Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism |
Panel de Síndrome de Meckel
| B9D1 | Meckel syndrome |
| B9D2 | Meckel syndrome |
| CC2D2A | COACH syndrome, Joubert syndrome, Meckel syndrome |
| CEP290 | Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome |
| MKS1 | Bardet-Biedl syndrome, Meckel syndrome |
| NPHP3 | Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia |
| RPGRIP1L | COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier |
| TCTN2 | Joubert syndrome, Meckel syndrome |
| TMEM67 | COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis |
| TMEM216 | Joubert syndrome, Meckel syndrome |
| TMEM231 | Joubert syndrome, Meckel syndrome |
Panel de Síndrome Nefrótico
| ACTN4 | Focal segmental glomerulosclerosis |
| ADCK4 | Nephrotic syndrome |
| ANLN | Focal segmental glomerulosclerosis |
| APOL1 | Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis |
| ARHGAP24 | Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis |
| ARHGDIA | Nephrotic syndrome |
| CD2AP | Glomerulosclerosis, focal segmental |
| COL4A3 | Alport syndrome |
| COL4A4 | Alport syndrome |
| COL4A5 | Alport syndrome |
| COQ2 | Coenzyme Q10 deficiency |
| CRB2 | Focal segmental glomerulosclerosis, Ventriculomegaly with cystic kidney disease |
| DGKE | Nephrotic syndrome |
| EMP2 | Nephrotic syndrome |
| INF2 | Charcot-Marie-Tooth disease, Glomerulosclerosis |
| ITGA3 | Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa |
| LAMB2 | Nephrotic syndrome, Pierson syndrome |
| LMX1B | Nail-patella syndrome |
| MYH9 | Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, May-Hegglin anomaly, Sebastian syndrome |
| MYO1E | Focal segmental glomerulosclerosis |
| NPHS1 | Nephrotic syndrome |
| NPHS2 | Nephrotic syndrome |
| PLCE1 | Nephrotic syndrome |
| PTPRO | Nephrotic syndrome |
| SCARB2 | Epilepsy, progressive myoclonic |
| SMARCAL1 | Schimke immunoosseous dysplasia |
| TRPC6 | Focal segmental glomerulosclerosis |
| TTC21B | Asphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia |
| WT1 | Denys-Drash syndrome, Frasier syndrome, Wilms tumor |
Panel de Síndrome de Senior-Loken
| CEP290 | Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome |
| INVS | Nephronophthisis |
| IQCB1 | Senior-Loken syndrome |
| NPHP1 | Joubert syndrome, Nephronophthisis, Senior-Loken syndrome |
| NPHP3 | Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia |
| NPHP4 | Nephronophthisis, Senior-Loken syndrome |
| SDCCAG8 | Bardet-Biedl syndrome, Senior-Loken syndrome |
Panel de Síndrome Urémico Hemolítico
| ADAMTS13 | Schulman-Upshaw syndrome, Thrombotic thrombocytopenic purpura, familial |
| C3 | Complement component 3 deficiency, Hemolytic uremic syndrome, atypical |
| CD46 | Hemolytic uremic syndrome, atypical |
| CFB | Complement factor B deficiency, Hemolytic uremic syndrome, atypical |
| CFH | Complement factor H deficiency, Hemolytic uremic syndrome, atypical |
| CFHR1 | Hemolytic uremic syndrome, atypical |
| CFHR2 | Complement system |
| CFHR3 | Hemolytic uremic syndrome, atypical |
| CFHR4 | Hemolytic uremic syndrome, atypical |
| CFHR5 | Atypical hemolytic-uremic syndrome with anti-factor H antibodies, C3 glomerulonephritis |
| CFI | Complement factor I deficiency, Hemolytic uremic syndrome, atypical |
| DGKE | Nephrotic syndrome |
| THBD | Hemolytic uremic syndrome, atypical, Thrombophilia due to thrombomodulin defect |
