Las principales enfermedades neurológicas tienen numerosos subtipos cuyos fenotipos se superponen, lo cual implica una mayor dificultad al momento de realizar un diagnóstico tradicional. El diagnóstico genético es el modo más eficiente de categorizar el subtipo al que corresponde una determinada enfermedad neurológica y permite, como consecuencia de la información que aporta, saber cuál es el tratamiento adecuado para cada persona.
PANELES:
Consulte por todos nuestros paneles y nuestros paneles customizables.
Panel de Ataxia
| ABCB7 | Anemia, sideroblastic, and spinocerebellar ataxia |
| ABHD12 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract |
| ACO2 | Infantile cerebellar-retinal degeneration, Optic atrophy |
| ADCK3 | Coenzyme Q10 deficiency, Progressive cerebellar ataxia and atrophy, Spinocerebellar ataxia |
| AFG3L2 | Spastic ataxia, Spinocerebellar ataxia |
| AHI1 | Joubert syndrome |
| ALDH5A1 | Succinic semialdehyde dehydrogenase deficiency |
| ANO10 | Spinocerebellar ataxia |
| APTX | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| ARL6 | Bardet-Biedl syndrome, Retinitis pigmentosa |
| ARL13B | Joubert syndrome |
| ATCAY | Ataxia, cerebellar, Cayman |
| ATM | Ataxia-Telangiectasia, Breast cancer |
| ATN1 | Dentatorubro-pallidoluysian atrophy |
| ATP8A2 | Dysequilibrium syndrome |
| ATXN1 | Spinocerebellar ataxia |
| ATXN2 | Spinocerebellar ataxia |
| ATXN3 | Spinocerebellar ataxia (Machado-Joseph disease) |
| ATXN7 | Spinocerebellar ataxia |
| ATXN10 | Spinocerebellar ataxia |
| 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 |
| BEAN1 | Spinocerebellar ataxia |
| C5ORF42 | Joubert syndrome, Orofaciodigital syndrome |
| C10ORF2 | Mitochondrial DNA depletion syndrome, Perrault syndrome |
| CA8 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome |
| CACNA1A | Episodic ataxia, Migraine, familial hemiplegic |
| CACNB4 | Episodic ataxia |
| CAMTA1 | Cerebellar ataxia, nonprogressive, with mental retardation |
| CASK | FG syndrome, Mental retardation, Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
| CC2D2A | COACH syndrome, Joubert syndrome, Meckel syndrome |
| CCDC28B | Bardet-Biedl syndrome, modifier |
| CCDC88C | Spinocerebellar ataxia |
| CEP41 | Joubert syndrome |
| CEP290 | Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome |
| CLCN2 | Epilepsy, Leukoencephalopathy with ataxia |
| CLN5 | Ceroid lipofuscinosis, neuronal |
| CLPP | Deafness |
| COX20 | Mitochondrial complex IV deficiency |
| CSTB | Epilepsy, progressive myoclonic |
| CWF19L1 | Spinocerebellar ataxia |
| CYP27A1 | Cerebrotendinous xanthomatosis |
| DNAJC19 | 3-methylglutaconic aciduria |
| DNMT1 | Cerebellar ataxia, deafness, and narcolepsy, Neuropathy, hereditary sensory |
| EEF2 | Spinocerebellar ataxia |
| ELOVL4 | Icthyosis, spastic quadriplegia, and mental retardation, Spinocerebellar ataxia, Stargardt disease |
| ELOVL5 | Spinocerebellar ataxia |
| FBXL4 | Mitochondrial DNA depletion syndrome |
| FGF14 | Spinocerebellar ataxia |
| FLVCR1 | Ataxia, posterior column, with retinitis pigmentosa |
| FMR1 | Premature ovarian failure |
| FXN | Friedreich ataxia |
| GBA2 | Cerebellar ataxia with spasticity |
| GFAP | Alexander disease |
| GOSR2 | Epilepsy, progessive myoclonic |
| GRID2 | Spinocerebellar ataxia |
| GRM1 | Spinocerebellar ataxia |
| GSS | Glutathione synthetase deficiency |
| HARS2 | Perrault syndrome |
| HTT | Huntington disease |
| INPP5E | Joubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome) |
| ITM2B | Cerebral amyloid angiopathy, Dementia, familial Danish, Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities |
| ITPR1 | Spinocerebellar ataxia |
| KCNA1 | Episodic ataxia/myokymia syndrome |
| KCNC3 | Spinocerebellar ataxia |
| KCND3 | Brugada syndrome |
| KCNJ10 | Enlarged vestibular aqueduct, Pendred syndrome, Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome) |
| KIF1C | Spastic ataxia |
| KIF7 | Acrocallosal syndrome, Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome, Joubert syndrome |
| LAMA1 | Poretti-Boltshauser syndrome |
| LARS2 | Perrault syndrome |
| MARS2 | Combined oxidative phosphorylation deficiency |
| MKKS | Bardet-Biedl syndrome, McKusick-Kaufman syndrome |
| MKS1 | Bardet-Biedl syndrome, Meckel syndrome |
| MRE11A | Ataxia-telangiectasia-like disorder-1 |
| MTPAP | Spastic ataxia |
| MTTP | Abetalipoproteinemia |
| NEDD4 | Spinocerebellar ataxia |
| NOL3 | Myoclonus, familial cortical |
| NOP56 | Spinocerebellar ataxia |
| NPHP1 | Joubert syndrome, Nephronophthisis, Senior-Loken syndrome |
| OFD1 | Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome |
| OPA1 | Glaucoma, normal tension |
| OPHN1 | Mental retardation, with cerebellar hypoplasia and distinctive facial appearance |
| PAX6 | Aniridia, 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 |
| PDYN | Spinocerebellar ataxia |
| PEX7 | Refsum disease, Rhizomelic CDP type 1 |
| PHYH | Refsum disease |
| PNKD | Paroxysmal non-kinesigenic dyskinesia |
| PNKP | Ataxia-oculomotor, Epileptic encephalopathy, early infantile |
| PNPLA6 | Boucher-Neuhauser syndrome, Laurence-Moon syndrome |
| POLG | Alpers syndrome, Mitochondrial DNA depletion syndrome, POLG-related ataxia neuropathy spectrum disorders, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Sensory ataxia, dysarthria, and ophthalmoparesis |
| PPP2R2B | Spinocerebellar ataxia |
| PRKCG | Spinocerebellar ataxia |
| PRRT2 | Episodic kinesigenic dyskinesia |
| RPGRIP1L | COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier |
| RUBCN | Spinocerebellar ataxia |
| SACS | Spastic ataxia, Charlevoix-Saguenay |
| SETX | Amyotrophic lateral sclerosis, juvenile, Ataxia with oculomotor apraxia, Spinocerebellar ataxia |
| SIL1 | Marinesco-Sjogren syndrome |
| SLC1A3 | Episodic ataxia |
| SLC2A1 | Epilepsy, idiopathic generalized, GLUT1 deficiency syndrome, Stomatin-deficient cryohydrocytosis with neurologic defects |
| SLC9A6 | Mental retardation, syndromic, Christianson |
| SLC52A2 | Brown-Vialetto-Van Laere syndrome |
| SNX14 | Spinocerebellar ataxia |
| SPG7 | Spastic paraplegia |
| SPTBN2 | Spinocerebellar ataxia |
| STUB1 | Spinocerebellar ataxia |
| SYT14 | Spinocerebellar ataxia |
| TBP | Spinocerebellar ataxia |
| TCTN1 | Joubert syndrome |
| TCTN2 | Joubert syndrome, Meckel syndrome |
| TCTN3 | Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome) |
| TDP1 | Spinocerebellar ataxia, with axonal neuropathy |
| TGM6 | Spinocerebellar ataxia |
| TMEM67 | COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis |
| TMEM138 | Joubert syndrome |
| TMEM216 | Joubert syndrome, Meckel syndrome |
| TMEM231 | Joubert syndrome, Meckel syndrome |
| TMEM237 | Joubert syndrome |
| TMEM240 | Spinocerebellar ataxia |
| TPP1 | Ceroid lipofuscinosis, neuronal, Spinocerebellar ataxia |
| TRIM32 | Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle |
| TTBK2 | Spinocerebellar ataxia |
| TTC8 | Bardet-Biedl syndrome, Retinitis pigmentosa |
| TTPA | Ataxia with isolated vitamin E deficiency |
| TUBB4A | Dystonia, Leukodystrophy, hypomyelinating |
| VAMP1 | Spastic ataxia |
| VLDLR | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome |
| WDPCP | Bardet-Biedl syndrome, Congenital heart defects, hamartomas of tongue, and polysyndactyly, Meckel-Gruber syndrome, modifier |
| WDR81 | Dysequilibrium syndrome |
| WFS1 | Wolfram syndrome |
| WWOX | Epileptic encephalopathy, early infantile, Spinocerebellar ataxia |
| ZNF423 | Joubert syndrome, Nephronophthisis |
| ZNF592 | Spinocerebellar ataxia |
Panel de Atrofia Muscular Espinal
| AARS | Charcot-Marie-Tooth disease, Epileptic encephalopathy, early infantile |
| ASAH1 | Farber lipogranulomatosis, Spinal muscular atrophy with progressive myoclonic epilepsy |
| ATP7A | Menkes disease |
| BICD2 | Childhood-onset proximal spinal muscular atrophy with contractures |
| BSCL2 | Encephalopathy, progressive, Lipodystrophy, congenital generalized |
| CHCHD10 | Myopathy, isolated mitochondrial |
| DCTN1 | Neuropathy, distal hereditary motor, Perry syndrome |
| DNAJB2 | Charcot-Marie-Tooth disease, Spinal muscular atrophy, distal |
| DYNC1H1 | Charcot-Marie-Tooth disease, Mental retardation, Spinal muscular atrophy |
| EXOSC3 | Pontocerebellar hypoplasia |
| EXOSC8 | Pontocerebellar hypoplasia |
| FBXO38 | Neuronopathy, distal hereditary motor |
| GARS | Charcot-Marie-Tooth disease, Neuropathy, distal hereditary motor |
| HEXA | GM2-gangliosidosis, Hexosaminidase A deficiency, Tay-Sachs disease |
| HSPB1 | Charcot-Marie-Tooth disease, Neuropathy, distal hereditary motor |
| HSPB3 | Neuronopathy, distal hereditary motor |
| HSPB8 | Charcot-Marie-Tooth disease, Distal hereditary motor neuronopathy |
| IGHMBP2 | Charcot-Marie-Tooth disease, Spinal muscular atrophy, distal |
| LAS1L | Spinal muscular atrophy with respiratory distress |
| PLEKHG5 | Charcot-Marie-Tooth disease, Spinal muscular atrophy |
| REEP1 | Distal hereditary motor neuronopathy, Spastic paraplegia |
| SCO2 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Hypertrophic cardiomyopathy (HCM), Leigh syndrome, Myopia |
| SLC5A7 | Neuronopathy, distal hereditary motor |
| SMN1 | Spinal muscular atrophy |
| SMN2 | Spinal muscular atrophy |
| TRPV4 | Brachyolmia (autosomal dominant type), Charcot-Marie-Tooth disease, Familial Digital arthropathy with brachydactyly, Hereditary motor and sensory neuropathy, Metatropic dysplasia, Parastremmatic dwarfism, Spinal muscular atrophy, Spondyloepiphyseal dysplasia Maroteaux type, Spondylometaphyseal dysplasia Kozlowski type |
| UBA1 | Spinal muscular atrophy, infantile |
| VAPB | Amyotrophic lateral sclerosis, Spinal muscular atrophy, late-onset, Finkel |
| VRK1 | Pontocerebellar hypoplasia |
Panel Completo de Distrofia Muscular / Miopatía
| ACTA1 | Myopathy |
| ANO5 | Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies |
| CAPN3 | Eosinophilic myositis, Muscular dystrophy, limb-girdle |
| CAV3 | Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome |
| CFL2 | Nemaline myopathy |
| COL4A1 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Anterior segment dysgenesis with cerebral involvement, Brain small vessel disease, Porencephaly, Retinal artery tortuosity, Schizencephaly |
| COL4A2 | Hemorrhage, intracerebral |
| COL6A1 | Bethlem myopathy, Ullrich congenital muscular dystrophy |
| COL6A2 | Bethlem myopathy, Epilepsy, progressive myoclonic, Myosclerosis, congenital, Ullrich congenital muscular dystrophy |
| COL6A3 | Bethlem myopathy, Dystonia, Ullrich congenital muscular dystrophy |
| COL12A1 | Bethlem myopathy, Ullrich congenital muscular dystrophy |
| DES | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| DMD | Becker muscular dystrophy, Dilated cardiomyopathy (DCM), Duchenne muscular dystrophy |
| DNAJB6 | Muscular dystrophy, limb-girdle |
| DYSF | Miyoshi muscular dystrophy, Muscular dystrophy, limb-girdle, Myopathy, distal, with anterior tibial onset |
| EMD | Emery-Dreifuss muscular dystrophy |
| FHL1 | Emery-Dreifuss muscular dystrophy, Myopathy with postural muscle atrophy, Reducing bod myopathy |
| FKRP | Muscular dystrophy-dystroglycanopathy |
| FKTN | Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (limb-girdle) |
| GMPPB | Limb-girdle muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| ISPD | Muscular dystrophy-dystroglycanopathy |
| KBTBD13 | Nemaline myopathy |
| KLHL40 | Nemaline myopathy |
| KLHL41 | Nemaline myopathy |
| LAMA2 | Muscular dystrophy, congenital merosin-deficient, Schizophrenia |
| LARGE | Muscular dystrophy-dystroglycanopathy |
| LIMS2 | Muscular dystrophy, limb-girdle |
| LMNA | Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type |
| LMOD3 | Severe congenital nemaline myopathy, Typical nemaline myopathy |
| MTM1 | Myopathy, centronuclear |
| MYOT | Myopathy, myofibrillar |
| NEB | Nemaline myopathy |
| PNPLA2 | Neutral lipid storage disease with myopathy |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy |
| POMT1 | Muscular dystrophy-dystroglycanopathy |
| POMT2 | Muscular dystrophy-dystroglycanopathy |
| SGCA | Muscular dystrophy, limb-girdle |
| SGCB | Muscular dystrophy, limb-girdle |
| SGCD | Dilated cardiomyopathy (DCM), Muscular dystrophy, limb-girdle |
| SGCG | Muscular dystrophy, limb-girdle |
| SMCHD1 | Facioscapulohumeral muscular dystrophy |
| TCAP | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Muscular dystrophy, limb-girdle |
| TMEM43 | Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy |
| TNNT1 | Nemaline myopathy |
| TNPO3 | Muscular dystrophy, limb-girdle |
| TOR1AIP1 | Muscular dystrophy with progressive weakness, distal contractures and rigid spine |
| TPM2 | Arthrogryposis, distal, CAP myopathy, Nemaline myopathy |
| TPM3 | CAP myopathy, Myopathy, congenital, with fiber- disproportion, Nemaline myopathy |
| TRAPPC11 | Limb-girdle muscular dystrophy |
| TRIM32 | Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle |
| TTN | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
Panel Completo de Epilepsia
| ABCD1 | Adrenoleukodystrophy |
| ADAR | Aicardi-Goutières syndrome, Dyschromatosis symmetrica hereditaria |
| ADSL | Adenylosuccinase deficiency |
| AFG3L2 | Spastic ataxia, Spinocerebellar ataxia |
| AGA | Aspartylglucosaminuria |
| AIMP1 | Leukodystrophy, hypomyelinating |
| ALDH5A1 | Succinic semialdehyde dehydrogenase deficiency |
| ALDH7A1 | Epilepsy, pyridoxine-dependent |
| ALG13 | Congenital disorder of glycosylation |
| AMACR | Alpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defect |
| AMT | Glycine encephalopathy |
| ARG1 | Hyperargininemia |
| ARHGEF9 | Epileptic encephalopathy, early infantile |
| ARSA | Metachromatic leukodystrophy |
| ARX | Corpus callosum, agenesis of, with abnormal genitalia, Epileptic encephalopathy, Hydranencephaly with abnormal genitalia, Lissencephaly, Mental retardation, Partington syndrome, Proud syndrome |
| ASAH1 | Farber lipogranulomatosis, Spinal muscular atrophy with progressive myoclonic epilepsy |
| ASPA | Aspartoacylase deficiency (Canavan disease) |
| ATP13A2 | Parkinson disease (Kufor-Rakeb syndrome) |
| ATRX | Alpha-thalassemia/mental retardation syndrome, Carpenter-Waziri syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Mental retardation-hypotonic facies syndrome, Smith-Fineman-Myers syndrome |
| BTD | Biotinidase deficiency |
| CACNA1A | Episodic ataxia, Migraine, familial hemiplegic |
| CACNA1H | Childhood absence epilepsy |
| CACNB4 | Episodic ataxia |
| CASK | FG syndrome, Mental retardation, Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
| CASR | Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism, Hypocalcemia, Neonatal hyperparathyroidism |
| CDKL5 | Angelman-like syndrome, Epileptic encephalopathy, early infantile, Rett syndrome, atypical |
| CERS1 | Epilepsy, progressive myoclonic |
| CHD2 | Epileptic encephalopathy, childhood-onset |
| CHRNA2 | Epilepsy, nocturnal frontal lobe |
| CHRNA4 | Epilepsy, nocturnal frontal lobe |
| CHRNB2 | Epilepsy, nocturnal frontal lobe |
| CLCN2 | Epilepsy, Leukoencephalopathy with ataxia |
| CLN3 | Ceroid lipofuscinosis, neuronal |
| CLN5 | Ceroid lipofuscinosis, neuronal |
| CLN6 | Ceroid lipofuscinosis, neuronal |
| CLN8 | Ceroid lipofuscinosis, neuronal |
| CNTNAP2 | Cortical dysplasia-focal epilepsy syndrome, Pitt-Hopkins like syndrome |
| COL4A1 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Anterior segment dysgenesis with cerebral involvement, Brain small vessel disease, Porencephaly, Retinal artery tortuosity, Schizencephaly |
| COX15 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Leigh syndrome |
| CPT2 | Carnitine palmitoyltransferase II deficiency |
| CSF1R | Leukoencephalopathy, diffuse hereditary, with spheroids |
| CSTB | Epilepsy, progressive myoclonic |
| CTSD | Ceroid lipofuscinosis, neuronal |
| CTSF | Neuronal ceroid lipofuscinosis |
| CUL4B | Mental retardation, syndromic, Cabezas |
| DARS2 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation |
| DCX | Lissencephaly, Subcortical laminal heterotopia |
| DEPDC5 | Epilepsy, familial focal, with variable foci |
| DNAJC5 | Ceroid lipofuscinosis, neuronal 4, Parry, Kufs disease, |
| DNM1 | Epileptic encephalopathy, early infantile |
| DOCK7 | Epilepitic encephalopathy |
| DPYD | 5-fluorouracil toxicity |
| EARS2 | Combined oxidative phosphorylation deficiency |
| EEF1A2 | Epileptic encephalopathy, early infantile, Mental retardation |
| EFHC1 | Epilepsy, juvenile absence, Epilepsy, myoclonic juvenile, Epilepsy, severe intractable |
| EIF2B1 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy |
| EIF2B2 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy |
| EIF2B3 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy |
| EIF2B4 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy |
| EIF2B5 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy |
| EPM2A | Epilepsy, progressive myoclonic |
| ETFA | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
| ETFB | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
| ETFDH | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
| FAM126A | Leukodystrophy, hypomyelinating |
| FH | Hereditary leiomyomatosis and renal cell cancer |
| FLNA | Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects |
| FOLR1 | Cerebral folate deficiency |
| FOXG1 | Rett syndrome, congenital variant |
| FOXRED1 | Leigh syndrome, Mitochondrial complex I deficiency |
| GABRA1 | Epilepsy, childhood absence, Epilepsy, juvenile myoclonic, Epileptic encephalopathy, early infantile |
| GABRB3 | Epilepsy, childhood absence |
| GABRG2 | Dravet syndrome, Epilepsy, childhood absence, Familial febrile seizures, Generalized epilepsy with febrile seizures plus |
| GALC | Krabbe disease |
| GAMT | Guanidinoacetate methyltransferase deficiency |
| GCDH | Glutaric aciduria |
| GCH1 | Dopa-Responsive Dystonia Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia |
| GFAP | Alexander disease |
| GJC2 | Leukodystrophy, hypomyelinating, Lymphedema, hereditary, Spastic paraplegia |
| GLDC | Glycine encephalopathy |
| GNAO1 | Epileptic encephalopathy, early infantile |
| GNE | Inclusion body myopathy, Nonaka myopathy, Sialuria |
| GOSR2 | Epilepsy, progessive myoclonic |
| GPHN | Hyperekplexia, Molybdenum cofactor deficiency |
| GRIA3 | Mental retardation |
| GRIN2A | Epilepsy, focal, with speech disorder |
| GRIN2B | Epileptic encephalopathy, early infantile, Mental retardation |
| GRN | Frontotemporal lobar degeneration with TDP43 inclusions, GRN-related, Neuronal ceroid lipofuscinosis |
| HCN1 | Epileptic encephalopathy, early infantile |
| HEPACAM | Megalencephalic leukoencephalopathy with subcortical cysts, remitting |
| HNRNPU | Intellectual disability and seizures |
| HSD17B10 | 17-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, syndromic |
| HSPD1 | Leukodystrophy, hypomyelinating, Spastic paraplegia |
| IQSEC2 | Mental retardation |
| KCNA1 | Episodic ataxia/myokymia syndrome |
| KCNA2 | Epileptic encephalopathy, early infantile |
| KCNB1 | Early infantile epileptic encephalopathy |
| KCNC1 | Epilepsy, progressive myoclonic |
| KCNQ2 | Benign familial neonatal seizures, Epileptic encephalopathy, early infantile, Myokymia |
| KCNQ3 | Seizures, benign neonatal |
| KCNT1 | Epilepsy, nocturnal frontal lobe |
| KCTD7 | Epilepsy, progressive myoclonic |
| KDM5C | Mental retardation, syndromic, Claes-Jensen |
| KIF1A | Mental retardation, Neuropathy, hereditary sensory, Spastic paraplegia |
| L2HGDH | L-2-hydroxyglutaric aciduria |
| LGI1 | Epilepsy, familial temporal lobe |
| MARS2 | Combined oxidative phosphorylation deficiency |
| MBD5 | Mental retardation |
| MECP2 | Angelman-like syndrome, Autism, Encephalopathy, Mental retardation, Rett syndrome |
| MED12 | FG syndrome, Lujan-Fryns syndrome, Mental retardation, with Marfanoid habitus, Ohdo syndrome, Opitz-Kaveggia syndrome |
| MEF2C | Mental retardation |
| MFSD8 | Ceroid lipofuscinosis, neuronal |
| MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts |
| MOCS1 | Molybdenum cofactor deficiency |
| MTHFR | Homocystinuria due to MTHFR deficiency |
| MTOR | Smith-Kingsmore syndrome |
| NDUFAF5 | Mitochondrial complex I deficiency |
| NECAP1 | Epileptic encephalopathy, early infantile |
| NEU1 | Sialidosis |
| NHLRC1 | Epilepsy, progressive myoclonic |
| NOTCH3 | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) |
| NRXN1 | Pitt-Hopkins like syndrome, Schizophrenia |
| OFD1 | Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome |
| OPHN1 | Mental retardation, with cerebellar hypoplasia and distinctive facial appearance |
| PCDH19 | Epileptic encephalopathy, early infantile |
| PGK1 | Phosphoglycerate kinase 1 deficiency |
| PHF6 | Borjeson-Forssman-Lehmann syndrome |
| PIGA | Multiple congenital anomalies-hypotonia-seizures syndrome |
| PLCB1 | Epileptic encephalopathy, early infantile |
| PLP1 | Pelizaeus-Merzbacher disease, Spastic paraplegia |
| PNKP | Ataxia-oculomotor, Epileptic encephalopathy, early infantile |
| PNPO | Pyridoxamine 5'-phosphate oxidase deficiency |
| POLR3A | Leukodystrophy, hypomyelinating |
| POLR3B | Leukodystrophy, hypomyelinating |
| PPT1 | Ceroid lipofuscinosis, neuronal |
| PRICKLE1 | Epilepsy, progressive myoclonic |
| PRICKLE2 | Epilepsy, progessive myoclonic |
| PRODH | Hyperprolinemia |
| PRRT2 | Episodic kinesigenic dyskinesia |
| PSAP | Combined saposin deficiency, Gaucher disease, atypical, due to saposin C deficiency, Krabbe disease, atypical, Metachromatic leukodystrophy due to saposin-b deficiency |
| PTS | Hyperphenylalaninemia, BH4-deficient |
| PURA | Mental retardation |
| QDPR | Hyperphenylalaninemia, BH4-deficient |
| RAB39B | Mental retardation, Waisman parkinsonism-mental retardation syndrome |
| RELN | Epilepsy, familial temporal lobe, Lissencephaly |
| RNASEH2A | Aicardi-Goutières syndrome |
| RNASEH2B | Aicardi-Goutières syndrome |
| RNASEH2C | Aicardi-Goutières syndrome |
| RNASET2 | Leukoencephalopathy, cystic, without megalencephaly |
| SAMHD1 | Aicardi-Goutières syndrome |
| SCARB2 | Epilepsy, progressive myoclonic |
| SCN1A | Epileptic encephalopathy, early infantile, Generalized epilepsy with febrile seizures plus, Migraine, familial hemiplegic |
| SCN1B | Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus |
| SCN2A | Epileptic encephalopathy, early infantile, Seizures, benign familial infantile |
| SCN8A | Cognitive impairment, Epileptic encephalopathy, early infantile |
| SCN9A | Paroxysmal extreme pain disorder |
| SERPINI1 | Encephalopathy, familial, with neuroserpin inclusion bodies |
| SIK1 | Epileptic encephalopathy, early infantile |
| SLC2A1 | Epilepsy, idiopathic generalized, GLUT1 deficiency syndrome, Stomatin-deficient cryohydrocytosis with neurologic defects |
| SLC6A1 | Myoclonic-astastic epilepsy |
| SLC6A8 | Creatine deficiency syndrome |
| SLC9A6 | Mental retardation, syndromic, Christianson |
| SLC12A5 | Epileptic encephalopathy, early infantile |
| SLC13A5 | Epileptic encephalopathy, early infantile |
| SLC19A3 | Thiamine metabolism dysfunction syndrome |
| SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome |
| SLC25A22 | Epileptic encephalopathy, early infantile |
| SLC35A2 | Congenital disorder of glycosylation |
| SLC46A1 | Folate malabsorption |
| SMS | Mental retardation, Snyder-Robinson |
| SNAP25 | Myasthenic syndrome, congenital |
| SOX10 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease |
| SPTAN1 | Epileptic encephalopathy, early infantile |
| ST3GAL3 | Epileptic encephalopathy, early infantile, Mental retardation |
| ST3GAL5 | Ganglioside GM3 synthase deficiency |
| STX1B | Generalized epilepsy with febrile seizures plus |
| STXBP1 | Epileptic encephalopathy, early infantile |
| SUMF1 | Multiple sulfatase deficiency |
| SUOX | Sulfocysteinuria |
| SYN1 | Epilepsy, with variable learning disabilities and behavior disorders |
| SYNGAP1 | Mental retardation |
| SZT2 | Epileptic encephalopathy, early infantile |
| TBC1D24 | Deafness, Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome |
| TCF4 | Corneal dystrophy, Fuchs endothelial, Pitt-Hopkins syndrome |
| TPP1 | Ceroid lipofuscinosis, neuronal, Spinocerebellar ataxia |
| TREX1 | Aicardi-Goutières syndrome, Chilblain lupus, Vasculopathy, retinal, with cerebral leukodystrophy |
| TSC1 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| TSC2 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| TUBB4A | Dystonia, Leukodystrophy, hypomyelinating |
| UBE2A | Mental retardation, syndromic, Nascimento |
| UBE3A | Angelman syndrome |
| WDR45 | Neurodegeneration with brain iron accumulation |
| WWOX | Epileptic encephalopathy, early infantile, Spinocerebellar ataxia |
| ZEB2 | Mowat-Wilson syndrome |
Panel de Deficiencia de Coenzima Q10
| ADCK3 | Coenzyme Q10 deficiency, Progressive cerebellar ataxia and atrophy, Spinocerebellar ataxia |
| ANO10 | Spinocerebellar ataxia |
| APTX | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| COQ2 | Coenzyme Q10 deficiency |
| COQ6 | Coenzyme Q10 deficiency |
| COQ9 | Coenzyme Q10 deficiency |
| ETFA | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
| ETFB | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
| ETFDH | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
| PDSS1 | Coenzyme Q10 deficiency |
| PDSS2 | Coenzyme Q10 deficiency |
Panel de Demencia
| APOE | Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy, Sea-blue histiocyte disease |
| APP | Alzheimer disease, familial, Cerebral amyloid angiopathy |
| CHMP2B | Amyotrophic lateral sclerosis, CHMP2B-related, Frontotemporal dementia |
| CSF1R | Leukoencephalopathy, diffuse hereditary, with spheroids |
| FUS | Amyotrophic lateral sclerosis, Essential tremor |
| GRN | Frontotemporal lobar degeneration with TDP43 inclusions, GRN-related, Neuronal ceroid lipofuscinosis |
| MAPT | Frontotemporal dementia, Parkinson-dementia syndrome, Pick disease, Supranuclear palsy, progressive |
| PRNP | Creutzfeldt-Jakob disease, Dementia, Lewy body, Gerstmann-Straussler disease, Huntington disease-like, Insomnia, fatal familial, Spongiform encephalopathy with neuropsychiatric features |
| PSEN1 | Dilated cardiomyopathy (DCM) |
| PSEN2 | Dilated cardiomyopathy (DCM), Peripartum/pregnancy-associated cardiomyopathy |
| SIGMAR1 | Amyotrophic lateral sclerosis, Frontotemporal lobar degeneration-motor neuron disease, Spinal muscular atrophy, distal |
| SORL1 | Early-onset Alzheimer disease |
| TARDBP | Amyotrophic lateral sclerosis |
| TREM2 | Early-onset dementia without bone cysts, Nasu-Hakola disease, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
| UBE3A | Angelman syndrome |
| UBQLN2 | Amyotrophic lateral sclerosis |
| VCP | Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Inclusion body myopathy with early-onset Paget disease |
Panel de Distrofia Muscular de Cintura Escapulohumeral o Pélvica y Distrofia Muscular Congénita
| ANO5 | Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies |
| CAPN3 | Eosinophilic myositis, Muscular dystrophy, limb-girdle |
| CAV3 | Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome |
| COL4A1 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Anterior segment dysgenesis with cerebral involvement, Brain small vessel disease, Porencephaly, Retinal artery tortuosity, Schizencephaly |
| COL4A2 | Hemorrhage, intracerebral |
| DES | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| DMD | Becker muscular dystrophy, Dilated cardiomyopathy (DCM), Duchenne muscular dystrophy |
| DNAJB6 | Muscular dystrophy, limb-girdle |
| DYSF | Miyoshi muscular dystrophy, Muscular dystrophy, limb-girdle, Myopathy, distal, with anterior tibial onset |
| FKRP | Muscular dystrophy-dystroglycanopathy |
| FKTN | Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (limb-girdle) |
| GMPPB | Limb-girdle muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| ISPD | Muscular dystrophy-dystroglycanopathy |
| LAMA2 | Muscular dystrophy, congenital merosin-deficient, Schizophrenia |
| LARGE | Muscular dystrophy-dystroglycanopathy |
| LIMS2 | Muscular dystrophy, limb-girdle |
| LMNA | Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type |
| MYOT | Myopathy, myofibrillar |
| PNPLA2 | Neutral lipid storage disease with myopathy |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy |
| POMT1 | Muscular dystrophy-dystroglycanopathy |
| POMT2 | Muscular dystrophy-dystroglycanopathy |
| SGCA | Muscular dystrophy, limb-girdle |
| SGCB | Muscular dystrophy, limb-girdle |
| SGCD | Dilated cardiomyopathy (DCM), Muscular dystrophy, limb-girdle |
| SGCG | Muscular dystrophy, limb-girdle |
| SMCHD1 | Facioscapulohumeral muscular dystrophy |
| TCAP | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Muscular dystrophy, limb-girdle |
| TNPO3 | Muscular dystrophy, limb-girdle |
| TOR1AIP1 | Muscular dystrophy with progressive weakness, distal contractures and rigid spine |
| TRAPPC11 | Limb-girdle muscular dystrophy |
| TRIM32 | Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle |
| TTN | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
Panel de Distrofia Muscular de Emery-Dreifuss
| DMD | Becker muscular dystrophy, Dilated cardiomyopathy (DCM), Duchenne muscular dystrophy |
| EMD | Emery-Dreifuss muscular dystrophy |
| FHL1 | Emery-Dreifuss muscular dystrophy, Myopathy with postural muscle atrophy, Reducing bod myopathy |
| LMNA | Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type |
| TMEM43 | Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy |
| TTN | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
Panel de Encefalopatía Epiléptica
| ADAR | Aicardi-Goutières syndrome, Dyschromatosis symmetrica hereditaria |
| ADSL | Adenylosuccinase deficiency |
| ALDH7A1 | Epilepsy, pyridoxine-dependent |
| ALG13 | Congenital disorder of glycosylation |
| AMT | Glycine encephalopathy |
| ARHGEF9 | Epileptic encephalopathy, early infantile |
| ARX | Corpus callosum, agenesis of, with abnormal genitalia, Epileptic encephalopathy, Hydranencephaly with abnormal genitalia, Lissencephaly, Mental retardation, Partington syndrome, Proud syndrome |
| CACNA1A | Episodic ataxia, Migraine, familial hemiplegic |
| CASK | FG syndrome, Mental retardation, Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
| CDKL5 | Angelman-like syndrome, Epileptic encephalopathy, early infantile, Rett syndrome, atypical |
| CHD2 | Epileptic encephalopathy, childhood-onset |
| CNTNAP2 | Cortical dysplasia-focal epilepsy syndrome, Pitt-Hopkins like syndrome |
| CPT2 | Carnitine palmitoyltransferase II deficiency |
| DCX | Lissencephaly, Subcortical laminal heterotopia |
| DNM1 | Epileptic encephalopathy, early infantile |
| DOCK7 | Epilepitic encephalopathy |
| EEF1A2 | Epileptic encephalopathy, early infantile, Mental retardation |
| FLNA | Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects |
| FOXG1 | Rett syndrome, congenital variant |
| GABRA1 | Epilepsy, childhood absence, Epilepsy, juvenile myoclonic, Epileptic encephalopathy, early infantile |
| GABRB3 | Epilepsy, childhood absence |
| GABRG2 | Dravet syndrome, Epilepsy, childhood absence, Familial febrile seizures, Generalized epilepsy with febrile seizures plus |
| GAMT | Guanidinoacetate methyltransferase deficiency |
| GLDC | Glycine encephalopathy |
| GNAO1 | Epileptic encephalopathy, early infantile |
| GPHN | Hyperekplexia, Molybdenum cofactor deficiency |
| GRIN2A | Epilepsy, focal, with speech disorder |
| GRIN2B | Epileptic encephalopathy, early infantile, Mental retardation |
| HCN1 | Epileptic encephalopathy, early infantile |
| HEPACAM | Megalencephalic leukoencephalopathy with subcortical cysts, remitting |
| HNRNPU | Intellectual disability and seizures |
| KCNA2 | Epileptic encephalopathy, early infantile |
| KCNB1 | Early infantile epileptic encephalopathy |
| KCNQ2 | Benign familial neonatal seizures, Epileptic encephalopathy, early infantile, Myokymia |
| KCNQ3 | Seizures, benign neonatal |
| KCNT1 | Epilepsy, nocturnal frontal lobe |
| KIF1A | Mental retardation, Neuropathy, hereditary sensory, Spastic paraplegia |
| MBD5 | Mental retardation |
| MECP2 | Angelman-like syndrome, Autism, Encephalopathy, Mental retardation, Rett syndrome |
| MEF2C | Mental retardation |
| MOCS1 | Molybdenum cofactor deficiency |
| MTHFR | Homocystinuria due to MTHFR deficiency |
| NECAP1 | Epileptic encephalopathy, early infantile |
| NRXN1 | Pitt-Hopkins like syndrome, Schizophrenia |
| PCDH19 | Epileptic encephalopathy, early infantile |
| PIGA | Multiple congenital anomalies-hypotonia-seizures syndrome |
| PLCB1 | Epileptic encephalopathy, early infantile |
| PNKP | Ataxia-oculomotor, Epileptic encephalopathy, early infantile |
| PNPO | Pyridoxamine 5'-phosphate oxidase deficiency |
| PURA | Mental retardation |
| RNASEH2A | Aicardi-Goutières syndrome |
| RNASEH2B | Aicardi-Goutières syndrome |
| SAMHD1 | Aicardi-Goutières syndrome |
| SCN1A | Epileptic encephalopathy, early infantile, Generalized epilepsy with febrile seizures plus, Migraine, familial hemiplegic |
| SCN1B | Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus |
| SCN2A | Epileptic encephalopathy, early infantile, Seizures, benign familial infantile |
| SCN8A | Cognitive impairment, Epileptic encephalopathy, early infantile |
| SIK1 | Epileptic encephalopathy, early infantile |
| SLC2A1 | Epilepsy, idiopathic generalized, GLUT1 deficiency syndrome, Stomatin-deficient cryohydrocytosis with neurologic defects |
| SLC6A8 | Creatine deficiency syndrome |
| SLC9A6 | Mental retardation, syndromic, Christianson |
| SLC12A5 | Epileptic encephalopathy, early infantile |
| SLC13A5 | Epileptic encephalopathy, early infantile |
| SLC19A3 | Thiamine metabolism dysfunction syndrome |
| SLC25A22 | Epileptic encephalopathy, early infantile |
| SLC35A2 | Congenital disorder of glycosylation |
| SNAP25 | Myasthenic syndrome, congenital |
| SPTAN1 | Epileptic encephalopathy, early infantile |
| ST3GAL3 | Epileptic encephalopathy, early infantile, Mental retardation |
| ST3GAL5 | Ganglioside GM3 synthase deficiency |
| STXBP1 | Epileptic encephalopathy, early infantile |
| SYN1 | Epilepsy, with variable learning disabilities and behavior disorders |
| SYNGAP1 | Mental retardation |
| SZT2 | Epileptic encephalopathy, early infantile |
| TBC1D24 | Deafness, Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome |
| TCF4 | Corneal dystrophy, Fuchs endothelial, Pitt-Hopkins syndrome |
| TREX1 | Aicardi-Goutières syndrome, Chilblain lupus, Vasculopathy, retinal, with cerebral leukodystrophy |
| TSC1 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| TSC2 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| UBE3A | Angelman syndrome |
| WDR45 | Neurodegeneration with brain iron accumulation |
| WWOX | Epileptic encephalopathy, early infantile, Spinocerebellar ataxia |
| ZEB2 | Mowat-Wilson syndrome |
Panel de Enfermedad de Parkinson
| ATP13A2 | Parkinson disease (Kufor-Rakeb syndrome) |
| DNAJC6 | Juvenile Parkinsonism |
| FBXO7 | Parkinson disease |
| LRRK2 | Dementia, Lewy body, Parkinson disease |
| MAPT | Frontotemporal dementia, Parkinson-dementia syndrome, Pick disease, Supranuclear palsy, progressive |
| PARK2 | Parkinson disease, juvenile |
| PARK7 | Parkinson disease, early onset |
| PINK1 | Parkinson disease, early onset |
| PLA2G6 | Neurodegeneration with brain iron accumulation, Parkinson disease |
| SLC6A3 | Parkinsonism-dystonia, infantile |
| SNCA | Dementia with Lewy bodies, Parkinson disease |
| VPS35 | Parkinson disease |
Panel de Epilepsia Idiopática Generalizada y Focal
| ALDH7A1 | Epilepsy, pyridoxine-dependent |
| AMACR | Alpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defect |
| CACNA1H | Childhood absence epilepsy |
| CACNB4 | Episodic ataxia |
| CASR | Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism, Hypocalcemia, Neonatal hyperparathyroidism |
| CHRNA2 | Epilepsy, nocturnal frontal lobe |
| CHRNA4 | Epilepsy, nocturnal frontal lobe |
| CHRNB2 | Epilepsy, nocturnal frontal lobe |
| CLCN2 | Epilepsy, Leukoencephalopathy with ataxia |
| DEPDC5 | Epilepsy, familial focal, with variable foci |
| EFHC1 | Epilepsy, juvenile absence, Epilepsy, myoclonic juvenile, Epilepsy, severe intractable |
| GABRA1 | Epilepsy, childhood absence, Epilepsy, juvenile myoclonic, Epileptic encephalopathy, early infantile |
| GABRB3 | Epilepsy, childhood absence |
| GABRG2 | Dravet syndrome, Epilepsy, childhood absence, Familial febrile seizures, Generalized epilepsy with febrile seizures plus |
| GRIN2A | Epilepsy, focal, with speech disorder |
| KCNA1 | Episodic ataxia/myokymia syndrome |
| KCNC1 | Epilepsy, progressive myoclonic |
| KCNQ2 | Benign familial neonatal seizures, Epileptic encephalopathy, early infantile, Myokymia |
| KCNQ3 | Seizures, benign neonatal |
| KCNT1 | Epilepsy, nocturnal frontal lobe |
| LGI1 | Epilepsy, familial temporal lobe |
| MTOR | Smith-Kingsmore syndrome |
| PRRT2 | Episodic kinesigenic dyskinesia |
| RELN | Epilepsy, familial temporal lobe, Lissencephaly |
| SCN1A | Epileptic encephalopathy, early infantile, Generalized epilepsy with febrile seizures plus, Migraine, familial hemiplegic |
| SCN1B | Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus |
| SCN2A | Epileptic encephalopathy, early infantile, Seizures, benign familial infantile |
| SCN8A | Cognitive impairment, Epileptic encephalopathy, early infantile |
| SCN9A | Paroxysmal extreme pain disorder |
| SLC2A1 | Epilepsy, idiopathic generalized, GLUT1 deficiency syndrome, Stomatin-deficient cryohydrocytosis with neurologic defects |
| SLC6A1 | Myoclonic-astastic epilepsy |
| STX1B | Generalized epilepsy with febrile seizures plus |
| TBC1D24 | Deafness, Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome |
Panel de Epilepsia Metabólica
| ADSL | Adenylosuccinase deficiency |
| AGA | Aspartylglucosaminuria |
| ALDH5A1 | Succinic semialdehyde dehydrogenase deficiency |
| ALDH7A1 | Epilepsy, pyridoxine-dependent |
| AMT | Glycine encephalopathy |
| ARG1 | Hyperargininemia |
| BTD | Biotinidase deficiency |
| DPYD | 5-fluorouracil toxicity |
| ETFA | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
| ETFB | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
| ETFDH | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
| FH | Hereditary leiomyomatosis and renal cell cancer |
| GAMT | Guanidinoacetate methyltransferase deficiency |
| GCDH | Glutaric aciduria |
| GCH1 | Dopa-Responsive Dystonia Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia |
| GLDC | Glycine encephalopathy |
| GNE | Inclusion body myopathy, Nonaka myopathy, Sialuria |
| GPHN | Hyperekplexia, Molybdenum cofactor deficiency |
| L2HGDH | L-2-hydroxyglutaric aciduria |
| MOCS1 | Molybdenum cofactor deficiency |
| MTHFR | Homocystinuria due to MTHFR deficiency |
| PGK1 | Phosphoglycerate kinase 1 deficiency |
| PNPO | Pyridoxamine 5'-phosphate oxidase deficiency |
| PRODH | Hyperprolinemia |
| PTS | Hyperphenylalaninemia, BH4-deficient |
| QDPR | Hyperphenylalaninemia, BH4-deficient |
| SLC2A1 | Epilepsy, idiopathic generalized, GLUT1 deficiency syndrome, Stomatin-deficient cryohydrocytosis with neurologic defects |
| SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome |
| SLC46A1 | Folate malabsorption |
| SUOX | Sulfocysteinuria |
Panel de Epilepsia y Retraso Mental Ligado al Cromosoma X
| ARHGEF9 | Epileptic encephalopathy, early infantile |
| ARX | Corpus callosum, agenesis of, with abnormal genitalia, Epileptic encephalopathy, Hydranencephaly with abnormal genitalia, Lissencephaly, Mental retardation, Partington syndrome, Proud syndrome |
| ATRX | Alpha-thalassemia/mental retardation syndrome, Carpenter-Waziri syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Mental retardation-hypotonic facies syndrome, Smith-Fineman-Myers syndrome |
| CASK | FG syndrome, Mental retardation, Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
| CDKL5 | Angelman-like syndrome, Epileptic encephalopathy, early infantile, Rett syndrome, atypical |
| CUL4B | Mental retardation, syndromic, Cabezas |
| GRIA3 | Mental retardation |
| HSD17B10 | 17-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, syndromic |
| IQSEC2 | Mental retardation |
| KDM5C | Mental retardation, syndromic, Claes-Jensen |
| MECP2 | Angelman-like syndrome, Autism, Encephalopathy, Mental retardation, Rett syndrome |
| MED12 | FG syndrome, Lujan-Fryns syndrome, Mental retardation, with Marfanoid habitus, Ohdo syndrome, Opitz-Kaveggia syndrome |
| OFD1 | Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome |
| OPHN1 | Mental retardation, with cerebellar hypoplasia and distinctive facial appearance |
| PCDH19 | Epileptic encephalopathy, early infantile |
| PGK1 | Phosphoglycerate kinase 1 deficiency |
| PHF6 | Borjeson-Forssman-Lehmann syndrome |
| RAB39B | Mental retardation, Waisman parkinsonism-mental retardation syndrome |
| SLC9A6 | Mental retardation, syndromic, Christianson |
| SMS | Mental retardation, Snyder-Robinson |
| SYN1 | Epilepsy, with variable learning disabilities and behavior disorders |
| UBE2A | Mental retardation, syndromic, Nascimento |
Panel de Esclerosis Lateral Amiotrófica
| ALS2 | Amyotrophic lateral sclerosis, Spastic paralysis |
| ANG | Amyotrophic lateral sclerosis |
| ATL1 | Neuropathy, hereditary sensory, Spastic paraplegia |
| BSCL2 | Encephalopathy, progressive, Lipodystrophy, congenital generalized |
| CHCHD10 | Myopathy, isolated mitochondrial |
| CHMP2B | Amyotrophic lateral sclerosis, CHMP2B-related, Frontotemporal dementia |
| DCTN1 | Neuropathy, distal hereditary motor, Perry syndrome |
| FIG4 | Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Polymicrogyria, bilateral occipital, Yunis-Varon syndrome |
| FUS | Amyotrophic lateral sclerosis, Essential tremor |
| GBE1 | Glycogen storage disease |
| GRN | Frontotemporal lobar degeneration with TDP43 inclusions, GRN-related, Neuronal ceroid lipofuscinosis |
| HEXA | GM2-gangliosidosis, Hexosaminidase A deficiency, Tay-Sachs disease |
| HNRNPA1 | Amyotrophic lateral sclerosis, Inclusion body myopathy with early-onset Paget disease |
| HSPD1 | Leukodystrophy, hypomyelinating, Spastic paraplegia |
| KIAA0196 | Ritscher-Schinzel syndrome (3C syndrome), Spastic paraplegia |
| KIF5A | Spastic paraplegia |
| OPTN | Glaucoma, normal tension, Glaucoma, open angle |
| PRF1 | Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosis, Lymphoma, non-Hodgkin |
| REEP1 | Distal hereditary motor neuronopathy, Spastic paraplegia |
| SETX | Amyotrophic lateral sclerosis, juvenile, Ataxia with oculomotor apraxia, Spinocerebellar ataxia |
| SLC52A2 | Brown-Vialetto-Van Laere syndrome |
| SLC52A3 | Brown-Vialetto-Van Laere syndrome, Fazio-Londe disease |
| SOD1 | Amyotrophic lateral sclerosis, Keratoconus |
| SPAST | Spastic paraplegia |
| SPG11 | Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Spastic paraplegia |
| SPG20 | Spastic paraplegia (Troyer syndrome) |
| SQSTM1 | Paget disease of bone |
| TARDBP | Amyotrophic lateral sclerosis |
| UBQLN2 | Amyotrophic lateral sclerosis |
| VAPB | Amyotrophic lateral sclerosis, Spinal muscular atrophy, late-onset, Finkel |
| VCP | Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Inclusion body myopathy with early-onset Paget disease |
Panel de Leucodistrofia y Leucoencefalopatía
| ABCD1 | Adrenoleukodystrophy |
| ADAR | Aicardi-Goutières syndrome, Dyschromatosis symmetrica hereditaria |
| AIMP1 | Leukodystrophy, hypomyelinating |
| ARSA | Metachromatic leukodystrophy |
| ASPA | Aspartoacylase deficiency (Canavan disease) |
| CLCN2 | Epilepsy, Leukoencephalopathy with ataxia |
| COL4A1 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Anterior segment dysgenesis with cerebral involvement, Brain small vessel disease, Porencephaly, Retinal artery tortuosity, Schizencephaly |
| COX15 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Leigh syndrome |
| CSF1R | Leukoencephalopathy, diffuse hereditary, with spheroids |
| DARS2 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation |
| EARS2 | Combined oxidative phosphorylation deficiency |
| EIF2B1 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy |
| EIF2B2 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy |
| EIF2B3 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy |
| EIF2B4 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy |
| EIF2B5 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy |
| FAM126A | Leukodystrophy, hypomyelinating |
| FOLR1 | Cerebral folate deficiency |
| FOXRED1 | Leigh syndrome, Mitochondrial complex I deficiency |
| GALC | Krabbe disease |
| GFAP | Alexander disease |
| GJC2 | Leukodystrophy, hypomyelinating, Lymphedema, hereditary, Spastic paraplegia |
| HEPACAM | Megalencephalic leukoencephalopathy with subcortical cysts, remitting |
| HSPD1 | Leukodystrophy, hypomyelinating, Spastic paraplegia |
| L2HGDH | L-2-hydroxyglutaric aciduria |
| MARS2 | Combined oxidative phosphorylation deficiency |
| MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts |
| NDUFAF5 | Mitochondrial complex I deficiency |
| NOTCH3 | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) |
| PLP1 | Pelizaeus-Merzbacher disease, Spastic paraplegia |
| POLR3A | Leukodystrophy, hypomyelinating |
| POLR3B | Leukodystrophy, hypomyelinating |
| PSAP | Combined saposin deficiency, Gaucher disease, atypical, due to saposin C deficiency, Krabbe disease, atypical, Metachromatic leukodystrophy due to saposin-b deficiency |
| RNASEH2A | Aicardi-Goutières syndrome |
| RNASEH2B | Aicardi-Goutières syndrome |
| RNASEH2C | Aicardi-Goutières syndrome |
| RNASET2 | Leukoencephalopathy, cystic, without megalencephaly |
| SAMHD1 | Aicardi-Goutières syndrome |
| SOX10 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease |
| SUMF1 | Multiple sulfatase deficiency |
| TREX1 | Aicardi-Goutières syndrome, Chilblain lupus, Vasculopathy, retinal, with cerebral leukodystrophy |
| TUBB4A | Dystonia, Leukodystrophy, hypomyelinating |
Panel de Lipofuscinosis Neuronal Ceroidea y Epilepsia Mioclónica Progresiva
| AFG3L2 | Spastic ataxia, Spinocerebellar ataxia |
| ASAH1 | Farber lipogranulomatosis, Spinal muscular atrophy with progressive myoclonic epilepsy |
| ATP13A2 | Parkinson disease (Kufor-Rakeb syndrome) |
| CERS1 | Epilepsy, progressive myoclonic |
| CLN3 | Ceroid lipofuscinosis, neuronal |
| CLN5 | Ceroid lipofuscinosis, neuronal |
| CLN6 | Ceroid lipofuscinosis, neuronal |
| CLN8 | Ceroid lipofuscinosis, neuronal |
| CSTB | Epilepsy, progressive myoclonic |
| CTSD | Ceroid lipofuscinosis, neuronal |
| CTSF | Neuronal ceroid lipofuscinosis |
| DNAJC5 | Ceroid lipofuscinosis, neuronal 4, Parry, Kufs disease, |
| EPM2A | Epilepsy, progressive myoclonic |
| FOLR1 | Cerebral folate deficiency |
| GOSR2 | Epilepsy, progessive myoclonic |
| GRN | Frontotemporal lobar degeneration with TDP43 inclusions, GRN-related, Neuronal ceroid lipofuscinosis |
| KCNC1 | Epilepsy, progressive myoclonic |
| KCTD7 | Epilepsy, progressive myoclonic |
| MFSD8 | Ceroid lipofuscinosis, neuronal |
| NEU1 | Sialidosis |
| NHLRC1 | Epilepsy, progressive myoclonic |
| PPT1 | Ceroid lipofuscinosis, neuronal |
| PRICKLE1 | Epilepsy, progressive myoclonic |
| PRICKLE2 | Epilepsy, progessive myoclonic |
| SCARB2 | Epilepsy, progressive myoclonic |
| SERPINI1 | Encephalopathy, familial, with neuroserpin inclusion bodies |
| TBC1D24 | Deafness, Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome |
| TPP1 | Ceroid lipofuscinosis, neuronal, Spinocerebellar ataxia |
Panel de Migraña
| ATP1A2 | Alternating hemiplegia of childhood, Migraine, familial hemiplegic |
| ATP1A3 | Alternating hemiplegia of childhood |
| CACNA1A | Episodic ataxia, Migraine, familial hemiplegic |
| KCNK18 | Migraine, with or without aura |
| NOTCH3 | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) |
| POLG | Alpers syndrome, Mitochondrial DNA depletion syndrome, POLG-related ataxia neuropathy spectrum disorders, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Sensory ataxia, dysarthria, and ophthalmoparesis |
| PRRT2 | Episodic kinesigenic dyskinesia |
| SCN1A | Epileptic encephalopathy, early infantile, Generalized epilepsy with febrile seizures plus, Migraine, familial hemiplegic |
| SLC1A3 | Episodic ataxia |
| SLC2A1 | Epilepsy, idiopathic generalized, GLUT1 deficiency syndrome, Stomatin-deficient cryohydrocytosis with neurologic defects |
Panel de Miopatía Nemalínica
| ACTA1 | Myopathy |
| CFL2 | Nemaline myopathy |
| KBTBD13 | Nemaline myopathy |
| KLHL40 | Nemaline myopathy |
| KLHL41 | Nemaline myopathy |
| LMOD3 | Severe congenital nemaline myopathy, Typical nemaline myopathy |
| MTM1 | Myopathy, centronuclear |
| NEB | Nemaline myopathy |
| TNNT1 | Nemaline myopathy |
| TPM2 | Arthrogryposis, distal, CAP myopathy, Nemaline myopathy |
| TPM3 | CAP myopathy, Myopathy, congenital, with fiber- disproportion, Nemaline myopathy |
Panel de Neuropatía de Charcot-Marie-Tooth
| AARS | Charcot-Marie-Tooth disease, Epileptic encephalopathy, early infantile |
| AIFM1 | Deafness |
| AMACR | Alpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defect |
| ARHGEF10 | Slowed nerve conduction velocity |
| ATL1 | Neuropathy, hereditary sensory, Spastic paraplegia |
| ATL3 | Neuropathy, hereditary sensory |
| ATP7A | Menkes disease |
| BAG3 | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| BSCL2 | Encephalopathy, progressive, Lipodystrophy, congenital generalized |
| C12ORF65 | Combined oxidative phosphorylation deficiency, Spastic paraplegia |
| CCT5 | Neuropathy, hereditary sensory, with spastic paraplegia |
| COX6A1 | Charcot-Marie-Tooth disease |
| COX10 | Leigh syndrome, Mitochondrial complex IV deficiency |
| CTDP1 | Congenital cataracts, facial dysmorphism, and neuropathy |
| DCAF8 | |
| DCTN1 | Neuropathy, distal hereditary motor, Perry syndrome |
| DHTKD1 | 2-aminoadipic and 2-oxoadipic aciduria, Charcot-Marie-Tooth disease |
| DNM2 | Charcot-Marie-Tooth disease, Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, Myopathy |
| DNMT1 | Cerebellar ataxia, deafness, and narcolepsy, Neuropathy, hereditary sensory |
| DST | Neuropathy, hereditary sensory and autonomic |
| DYNC1H1 | Charcot-Marie-Tooth disease, Mental retardation, Spinal muscular atrophy |
| EGR2 | Charcot-Marie-Tooth disease, Dejerine-Sottas disease, Neuropathy |
| FAM134B | Neuropathy, hereditary sensory and autonomic |
| FBLN5 | Cutis laxa, Macular degeneration, age-related |
| FGD4 | Charcot-Marie-Tooth disease |
| FIG4 | Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Polymicrogyria, bilateral occipital, Yunis-Varon syndrome |
| FXN | Friedreich ataxia |
| GAN | Giant axonal neuropathy |
| GARS | Charcot-Marie-Tooth disease, Neuropathy, distal hereditary motor |
| GDAP1 | Charcot-Marie-Tooth disease |
| GJB1 | Charcot-Marie-Tooth neuropathy |
| GNB4 | Charcot-Marie-Tooth disease |
| GNE | Inclusion body myopathy, Nonaka myopathy, Sialuria |
| HADHB | Trifunctional protein deficiency |
| HARS | Usher syndrome |
| HINT1 | Axonal neuropathy with neuromyotonia |
| HK1 | Hemolytic anemia, nonspherocytic, due to hexokinase deficiency |
| HSPB1 | Charcot-Marie-Tooth disease, Neuropathy, distal hereditary motor |
| HSPB8 | Charcot-Marie-Tooth disease, Distal hereditary motor neuronopathy |
| IGHMBP2 | Charcot-Marie-Tooth disease, Spinal muscular atrophy, distal |
| INF2 | Charcot-Marie-Tooth disease, Glomerulosclerosis |
| KARS | Charcot-Marie-Tooth disease |
| KIF1A | Mental retardation, Neuropathy, hereditary sensory, Spastic paraplegia |
| KIF1B | Neuroblastoma, Pheochromocytoma |
| KIF5A | Spastic paraplegia |
| LDB3 | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| LITAF | Charcot-Marie-Tooth disease |
| LMNA | Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type |
| LRSAM1 | Charcot-Marie-Tooth disease |
| MARS | Interstitial lung and liver disease |
| MED25 | Basel-Vanagait-Smirin-Yosef syndrome, Charcot-Marie-Tooth disease |
| MFN2 | Charcot-Marie-Tooth disease, Hereditary motor and sensory neuropathy |
| MPZ | Charcot-Marie-Tooth disease, Dejerine-Sottas disease, Neuropathy, Roussy-Levy syndrome |
| MTMR2 | Charcot-Marie-Tooth disease |
| MYOT | Myopathy, myofibrillar |
| NDRG1 | Charcot-Marie-Tooth disease |
| NEFL | Charcot-Marie-Tooth disease |
| NGF | Neuropathy, hereditary sensory and autonomic |
| NTRK1 | Insensitivity to pain, congenital, with anhidrosis |
| PDK3 | Charcot-Marie-Tooth disease |
| PLEKHG5 | Charcot-Marie-Tooth disease, Spinal muscular atrophy |
| PMP22 | Charcot-Marie-Tooth disease, Dejerine-Sottas disease, Neuropathy, hereditary, with liability to pressurve palsies, Neuropathy, inflammatory demyelinating, Roussy-Levy syndrome |
| POLG | Alpers syndrome, Mitochondrial DNA depletion syndrome, POLG-related ataxia neuropathy spectrum disorders, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Sensory ataxia, dysarthria, and ophthalmoparesis |
| PRPS1 | Arts syndrome, Deafness, Phosphoribosylpyrophosphate synthetase I superactivity |
| PRX | Charcot-Marie-Tooth disease, Dejerine-Sottas disease |
| RAB7A | Charcot-Marie-Tooth disease |
| REEP1 | Distal hereditary motor neuronopathy, Spastic paraplegia |
| SACS | Spastic ataxia, Charlevoix-Saguenay |
| SBF1 | Charcot-Marie-Tooth disease |
| SBF2 | Charcot-Marie-Tooth disease |
| SCN9A | Paroxysmal extreme pain disorder |
| SETX | Amyotrophic lateral sclerosis, juvenile, Ataxia with oculomotor apraxia, Spinocerebellar ataxia |
| SH3TC2 | Charcot-Marie-Tooth disease, Mononeuropathy of the median nerve |
| SLC12A6 | Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome) |
| SMAD3 | Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome |
| SPG11 | Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Spastic paraplegia |
| SPTLC1 | Neuropathy, hereditary sensory and autonomic |
| SPTLC2 | Hereditary sensory and autonomic neuropathy |
| SURF1 | Charcot-Marie-Tooth disease, Leigh syndrome |
| TFG | Hereditary motor and sensory neuropathy, proximal, Spastic paraplegia |
| TRIM2 | Charcot-Marie-Tooth disease |
| TRPV4 | Brachyolmia (autosomal dominant type), Charcot-Marie-Tooth disease, Familial Digital arthropathy with brachydactyly, Hereditary motor and sensory neuropathy, Metatropic dysplasia, Parastremmatic dwarfism, Spinal muscular atrophy, Spondyloepiphyseal dysplasia Maroteaux type, Spondylometaphyseal dysplasia Kozlowski type |
| TYMP | Mitochondrial DNA depletion syndrome |
| VCP | Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Inclusion body myopathy with early-onset Paget disease |
| WNK1 | Neuropathy, hereditary sensory and autonomic, Pseudohypoaldosteronism |
| YARS | Charcot-Marie-Tooth disease |
Panel de Parálisis Periódica
| CACNA1S | Hypokalemic periodic paralysis, Malignant hyperthermia, Thyrotoxic periodic paralysis |
| CLCN1 | Myotonia congenita, Myotonia congenita, Myotonia levior |
| KCNJ2 | Andersen syndrome, Atrial fibrillation, Long QT syndrome, Short QT syndrome |
| SCN4A | Hyperkalemic periodic paralysis, Myasthenic syndrome, congenital, Myotonia, potassium-aggravated, Normokalemic potassium-sensitive periodic paralysis, Paramyotonia congenita |
Panel de Paraparesia Espástica
| AFG3L2 | Spastic ataxia, Spinocerebellar ataxia |
| ALS2 | Amyotrophic lateral sclerosis, Spastic paralysis |
| ATL1 | Neuropathy, hereditary sensory, Spastic paraplegia |
| B4GALNT1 | Spastic paraplegia |
| BSCL2 | Encephalopathy, progressive, Lipodystrophy, congenital generalized |
| C12ORF65 | Combined oxidative phosphorylation deficiency, Spastic paraplegia |
| C19ORF12 | Neurodegeneration with brain iron accumulation, Spastic Paraplegia |
| CYP7B1 | Bile acid synthesis defect |
| DDHD1 | Spastic paraplegia |
| DDHD2 | Spastic paraplegia |
| FA2H | Spastic paraplegia |
| FXN | Friedreich ataxia |
| GALC | Krabbe disease |
| GBA2 | Cerebellar ataxia with spasticity |
| GJC2 | Leukodystrophy, hypomyelinating, Lymphedema, hereditary, Spastic paraplegia |
| HSPD1 | Leukodystrophy, hypomyelinating, Spastic paraplegia |
| KDM5C | Mental retardation, syndromic, Claes-Jensen |
| KIAA0196 | Ritscher-Schinzel syndrome (3C syndrome), Spastic paraplegia |
| KIF1A | Mental retardation, Neuropathy, hereditary sensory, Spastic paraplegia |
| KIF5A | Spastic paraplegia |
| L1CAM | CRASH syndrome, Corpus callosum, partial agenesis, Hydrocephalus due to congenital stenosis of aqueduct of Sylvius, Mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome, Spastic |
| MARS2 | Combined oxidative phosphorylation deficiency |
| NIPA1 | Spastic paraplegia |
| PLP1 | Pelizaeus-Merzbacher disease, Spastic paraplegia |
| PNPLA6 | Boucher-Neuhauser syndrome, Laurence-Moon syndrome |
| REEP1 | Distal hereditary motor neuronopathy, Spastic paraplegia |
| SACS | Spastic ataxia, Charlevoix-Saguenay |
| SETX | Amyotrophic lateral sclerosis, juvenile, Ataxia with oculomotor apraxia, Spinocerebellar ataxia |
| SLC16A2 | Allan-Herndon-Dudley syndrome |
| SLC33A1 | Congenital cataracts, hearing loss, and neurodegeneration |
| SPAST | Spastic paraplegia |
| SPG7 | Spastic paraplegia |
| SPG11 | Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Spastic paraplegia |
| SPG20 | Spastic paraplegia (Troyer syndrome) |
| SPR | Dystonia, Dopa-responsive, due to sepiapterin reductase deficiency |
Panel de Retardo Mental Ligado al Cromosoma X
| ABCD1 | Adrenoleukodystrophy |
| ACSL4 | Mental retardation |
| AFF2 | Premature ovarian failure |
| AGTR2 | Mental retardation |
| AP1S2 | Mental retardation, syndromic, Fried (Pettigrew syndrome) |
| ARHGEF6 | Mental retardation |
| ARHGEF9 | Epileptic encephalopathy, early infantile |
| ARX | Corpus callosum, agenesis of, with abnormal genitalia, Epileptic encephalopathy, Hydranencephaly with abnormal genitalia, Lissencephaly, Mental retardation, Partington syndrome, Proud syndrome |
| ATP6AP2 | Mental retardation, syndromic, Hedera, Parkinsonism with spasticity |
| ATP7A | Menkes disease |
| ATRX | Alpha-thalassemia/mental retardation syndrome, Carpenter-Waziri syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Mental retardation-hypotonic facies syndrome, Smith-Fineman-Myers syndrome |
| BCOR | Microphthalmia, syndromic, Oculofaciocardiodental syndrome |
| BRWD3 | Mental retardation |
| CASK | FG syndrome, Mental retardation, Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
| CDKL5 | Angelman-like syndrome, Epileptic encephalopathy, early infantile, Rett syndrome, atypical |
| CUL4B | Mental retardation, syndromic, Cabezas |
| DCX | Lissencephaly, Subcortical laminal heterotopia |
| DKC1 | Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome |
| DLG3 | Mental retardation |
| ELK1 | |
| FANCB | Fanconi anemia |
| FGD1 | Aarskog-Scott syndrome, Mental retardation, syndromic |
| FLNA | Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects |
| FMR1 | Premature ovarian failure |
| FTSJ1 | Mental retardation |
| GDI1 | Mental retardation |
| GK | Glycerol kinase deficiency |
| GPC3 | Simpson-Golabi-Behmel syndrome |
| GRIA3 | Mental retardation |
| HCCS | Linear skin defects with multiple congenital anomalies 1 (MIDAS syndrome) |
| HPRT1 | Kelley-Seegmiller syndrome, Lesch-Nyhan syndrome |
| HSD17B10 | 17-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, syndromic |
| HUWE1 | Mental retardation, syndromic, Turner |
| IDS | Mucopolysaccharidosis |
| IGBP1 | Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia |
| IL1RAPL1 | Mental retardation |
| IQSEC2 | Mental retardation |
| KDM5C | Mental retardation, syndromic, Claes-Jensen |
| KIAA2022 | Mental retardation |
| KLF8 | |
| L1CAM | CRASH syndrome, Corpus callosum, partial agenesis, Hydrocephalus due to congenital stenosis of aqueduct of Sylvius, Mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome, Spastic |
| LAMP2 | Danon disease |
| MAGT1 | Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia |
| MAOA | Brunner syndrome |
| MBTPS2 | IFAP syndrome, Keratosis follicularis spinulosa decalvans, Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques |
| MECP2 | Angelman-like syndrome, Autism, Encephalopathy, Mental retardation, Rett syndrome |
| MED12 | FG syndrome, Lujan-Fryns syndrome, Mental retardation, with Marfanoid habitus, Ohdo syndrome, Opitz-Kaveggia syndrome |
| MID1 | Opitz GBBB syndrome |
| MTM1 | Myopathy, centronuclear |
| NDP | Exudative vitreoretinopathy, Norrie disease |
| NDUFA1 | Mitochondrial complex I deficiency |
| NHS | Cataract, Nance-Horan syndrome |
| NLGN3 | Asperger syndrome, Autism |
| NLGN4X | Asperger syndrome, Autism, Mental retardation |
| NSDHL | CK syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome) |
| NXF5 | Familial heart block and focal segmental glomerulosclerosis |
| OCRL | Dent disease, Lowe syndrome |
| OFD1 | Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome |
| OPHN1 | Mental retardation, with cerebellar hypoplasia and distinctive facial appearance |
| OTC | Ornithine transcarbamylase deficiency |
| PAK3 | Mental retardation |
| PCDH19 | Epileptic encephalopathy, early infantile |
| PDHA1 | Leigh syndrome, Pyruvate dehydrogenase E1-alpha deficiency |
| PGK1 | Phosphoglycerate kinase 1 deficiency |
| PHF6 | Borjeson-Forssman-Lehmann syndrome |
| PHF8 | Mental retardation syndrome, Siderius |
| PLP1 | Pelizaeus-Merzbacher disease, Spastic paraplegia |
| PORCN | Focal dermal hypoplasia |
| PQBP1 | Renpenning syndrome |
| PRPS1 | Arts syndrome, Deafness, Phosphoribosylpyrophosphate synthetase I superactivity |
| RAB39B | Mental retardation, Waisman parkinsonism-mental retardation syndrome |
| RPL10 | Autism |
| RPS6KA3 | Coffin-Lowry syndrome, Mental retardation |
| SHROOM4 | Stocco dos Santos mental retardation syndrome |
| SLC6A8 | Creatine deficiency syndrome |
| SLC9A6 | Mental retardation, syndromic, Christianson |
| SLC16A2 | Allan-Herndon-Dudley syndrome |
| SMC1A | Cornelia de Lange syndrome |
| SMS | Mental retardation, Snyder-Robinson |
| SOX3 | Panhypopituitarism |
| SRPX2 | Rolandic epilepsy, mental retardation, and speech dyspraxia |
| SYN1 | Epilepsy, with variable learning disabilities and behavior disorders |
| SYP | Mental retardation |
| TIMM8A | Jensen syndrome, Mohr-Tranebjaerg syndrome, Opticoacoustic nerve atrophy with dementia |
| TSPAN7 | Mental retardation |
| UBE2A | Mental retardation, syndromic, Nascimento |
| UPF3B | Mental retardation, syndromic |
| ZCCHC12 | Intellectual disability |
| ZDHHC9 | Mental retardation, syndromic, Raymond |
| ZDHHC15 | Mental retardation |
| ZNF41 | Mental retardation |
| ZNF81 | Mental retardation |
| ZNF674 | Mental retardation |
| ZNF711 | Mental retardation |
Panel de Síndromes Asociados a Alteración del Colágeno Tipo IV
| COL4A1 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Anterior segment dysgenesis with cerebral involvement, Brain small vessel disease, Porencephaly, Retinal artery tortuosity, Schizencephaly |
| COL4A2 | Hemorrhage, intracerebral |
| COL6A1 | Bethlem myopathy, Ullrich congenital muscular dystrophy |
| COL6A2 | Bethlem myopathy, Epilepsy, progressive myoclonic, Myosclerosis, congenital, Ullrich congenital muscular dystrophy |
| COL6A3 | Bethlem myopathy, Dystonia, Ullrich congenital muscular dystrophy |
| COL12A1 | Bethlem myopathy, Ullrich congenital muscular dystrophy |
Panel de Síndrome Miasténico Congénito
| AGRN | Myasthenic syndrome, congenital |
| CHAT | Myasthenic syndrome, congenital |
| CHRNA1 | Myasthenic syndrome, congenital |
| CHRNB1 | Myasthenic syndrome |
| CHRND | Myasthenic syndrome |
| CHRNE | Myasthenic syndrome |
| CHRNG | Escobar syndrome, Multiple pterygium syndrome |
| COLQ | Myasthenic syndrome, congenital |
| DOK7 | Myasthenic syndrome, congenital |
| DPAGT1 | Congenital disorder of glycosylation, Myasthenic syndrome, congenital |
| GFPT1 | Myasthenic syndrome, congenital |
| LAMB2 | Nephrotic syndrome, Pierson syndrome |
| MUSK | Myasthenic syndrome, congenital |
| PLEC | Epidermolysis bullosa, Muscular dystrophy, limb-girdle |
| RAPSN | Myasthenic syndrome, congenital |
| SCN4A | Hyperkalemic periodic paralysis, Myasthenic syndrome, congenital, Myotonia, potassium-aggravated, Normokalemic potassium-sensitive periodic paralysis, Paramyotonia congenita |
| STIM1 | Immunodeficiency, Stormorken syndrome |
Panel de Trastornos del Espectro Autista
| CACNA1C | Brugada syndrome, Timothy syndrome |
| DHCR7 | Smith-Lemli-Opitz syndrome |
| EN2 | Autism |
| GAMT | Guanidinoacetate methyltransferase deficiency |
| MECP2 | Angelman-like syndrome, Autism, Encephalopathy, Mental retardation, Rett syndrome |
| NLGN3 | Asperger syndrome, Autism |
| NLGN4X | Asperger syndrome, Autism, Mental retardation |
| NSD1 | Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome |
| PDE8B | Pigmented nodular adrenocortical disease |
| PTEN | Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome |
| RPL10 | Autism |
| TSC1 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| TSC2 | Lymphangioleiomyomatosis, Tuberous sclerosis |
EXOMA
MICROARRAYS
ESTUDIOS DISPONIBLES
- Acondroplasia
- Alzheimer, estudios Apolipoproteína E
- Ataxia de Friedreich
- Ataxia Espinocerebelosa, estudio neurodegenerativo adicional.
- Ataxia Espinocerebelosa tipo I
- Ataxia Espinocerebelosa tipo II
- Ataxia Espinocerebelosa tipo III
- Ataxia Espinocerebelosa tipo VI
- Ataxia Espinocerebelosa tipo VII
- Ataxia Espinocerebelosa tipo VIII
- Atrofia Espinal Bulbar (Enfermedad de Kennedy)
- Atrofia Músculo Espinal Tipo I SMA (Werding Hoffman)
- Charcot Marie Tooth
- Corea de Huntington
- Displasia Tanatofórica
- Distonía de Torsión Temprana
- Distrofia Miotónica de Steiner
- Distrofia Oculofaríngea
- Duchenne
- Fragilidad del Cromosoma X
- Neuropatía Tomaculosa
- Prader Willi
- Síndrome de Angelman
