Neurología

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.

 

 

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

 

 

PANELES:

Panel de Ataxia
ABCB7Anemia, sideroblastic, and spinocerebellar ataxia
ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ACO2Infantile cerebellar-retinal degeneration, Optic atrophy
ADCK3Coenzyme Q10 deficiency, Progressive cerebellar ataxia and atrophy, Spinocerebellar ataxia
AFG3L2Spastic ataxia, Spinocerebellar ataxia
AHI1Joubert syndrome
ALDH5A1Succinic semialdehyde dehydrogenase deficiency
ANO10Spinocerebellar ataxia
APTXAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ARL6Bardet-Biedl syndrome, Retinitis pigmentosa
ARL13BJoubert syndrome
ATCAYAtaxia, cerebellar, Cayman
ATMAtaxia-Telangiectasia, Breast cancer
ATN1Dentatorubro-pallidoluysian atrophy
ATP8A2Dysequilibrium syndrome
ATXN1Spinocerebellar ataxia
ATXN2Spinocerebellar ataxia
ATXN3Spinocerebellar ataxia (Machado-Joseph disease)
ATXN7Spinocerebellar ataxia
ATXN10Spinocerebellar ataxia
BBS1Bardet-Biedl syndrome
BBS2Bardet-Biedl syndrome, Retinitis pigmentosa
BBS4Bardet-Biedl syndrome
BBS5Bardet-Biedl syndrome
BBS7Bardet-Biedl syndrome
BBS9Bardet-Biedl syndrome
BBS10Bardet-Biedl syndrome
BBS12Bardet-Biedl syndrome
BEAN1Spinocerebellar ataxia
C5ORF42Joubert syndrome, Orofaciodigital syndrome
C10ORF2Mitochondrial DNA depletion syndrome, Perrault syndrome
CA8Cerebellar ataxia, mental retardation, and dysequilibrium syndrome
CACNA1AEpisodic ataxia, Migraine, familial hemiplegic
CACNB4Episodic ataxia
CAMTA1Cerebellar ataxia, nonprogressive, with mental retardation
CASKFG syndrome, Mental retardation, Mental retardation and microcephaly with pontine and cerebellar hypoplasia
CC2D2ACOACH syndrome, Joubert syndrome, Meckel syndrome
CCDC28BBardet-Biedl syndrome, modifier
CCDC88CSpinocerebellar ataxia
CEP41Joubert syndrome
CEP290Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome
CLCN2Epilepsy, Leukoencephalopathy with ataxia
CLN5Ceroid lipofuscinosis, neuronal
CLPPDeafness
COX20Mitochondrial complex IV deficiency
CSTBEpilepsy, progressive myoclonic
CWF19L1Spinocerebellar ataxia
CYP27A1Cerebrotendinous xanthomatosis
DNAJC193-methylglutaconic aciduria
DNMT1Cerebellar ataxia, deafness, and narcolepsy, Neuropathy, hereditary sensory
EEF2Spinocerebellar ataxia
ELOVL4Icthyosis, spastic quadriplegia, and mental retardation, Spinocerebellar ataxia, Stargardt disease
ELOVL5Spinocerebellar ataxia
FBXL4Mitochondrial DNA depletion syndrome
FGF14Spinocerebellar ataxia
FLVCR1Ataxia, posterior column, with retinitis pigmentosa
FMR1Premature ovarian failure
FXNFriedreich ataxia
GBA2Cerebellar ataxia with spasticity
GFAPAlexander disease
GOSR2Epilepsy, progessive myoclonic
GRID2Spinocerebellar ataxia
GRM1Spinocerebellar ataxia
GSSGlutathione synthetase deficiency
HARS2Perrault syndrome
HTTHuntington disease
INPP5EJoubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
ITM2BCerebral amyloid angiopathy, Dementia, familial Danish, Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
ITPR1Spinocerebellar ataxia
KCNA1Episodic ataxia/myokymia syndrome
KCNC3Spinocerebellar ataxia
KCND3Brugada syndrome
KCNJ10Enlarged vestibular aqueduct, Pendred syndrome, Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome)
KIF1CSpastic ataxia
KIF7Acrocallosal syndrome, Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome, Joubert syndrome
LAMA1Poretti-Boltshauser syndrome
LARS2Perrault syndrome
MARS2Combined oxidative phosphorylation deficiency
MKKSBardet-Biedl syndrome, McKusick-Kaufman syndrome
MKS1Bardet-Biedl syndrome, Meckel syndrome
MRE11AAtaxia-telangiectasia-like disorder-1
MTPAPSpastic ataxia
MTTPAbetalipoproteinemia
NEDD4Spinocerebellar ataxia
NOL3Myoclonus, familial cortical
NOP56Spinocerebellar ataxia
NPHP1Joubert syndrome, Nephronophthisis, Senior-Loken syndrome
OFD1Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome
OPA1Glaucoma, normal tension
OPHN1Mental retardation, with cerebellar hypoplasia and distinctive facial appearance
PAX6Aniridia, Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome), Cataract with late-onset corneal dystrophy, Coloboma, ocular, Foveal hypoplasia, Keratitis, Morning glory disc anomaly, Optic nerve hypoplasia, Peters anomaly
PDYNSpinocerebellar ataxia
PEX7Refsum disease, Rhizomelic CDP type 1
PHYHRefsum disease
PNKDParoxysmal non-kinesigenic dyskinesia
PNKPAtaxia-oculomotor, Epileptic encephalopathy, early infantile
PNPLA6Boucher-Neuhauser syndrome, Laurence-Moon syndrome
POLGAlpers syndrome, Mitochondrial DNA depletion syndrome, POLG-related ataxia neuropathy spectrum disorders, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Sensory ataxia, dysarthria, and ophthalmoparesis
PPP2R2BSpinocerebellar ataxia
PRKCGSpinocerebellar ataxia
PRRT2Episodic kinesigenic dyskinesia
RPGRIP1LCOACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier
RUBCNSpinocerebellar ataxia
SACSSpastic ataxia, Charlevoix-Saguenay
SETXAmyotrophic lateral sclerosis, juvenile, Ataxia with oculomotor apraxia, Spinocerebellar ataxia
SIL1Marinesco-Sjogren syndrome
SLC1A3Episodic ataxia
SLC2A1Epilepsy, idiopathic generalized, GLUT1 deficiency syndrome, Stomatin-deficient cryohydrocytosis with neurologic defects
SLC9A6Mental retardation, syndromic, Christianson
SLC52A2Brown-Vialetto-Van Laere syndrome
SNX14Spinocerebellar ataxia
SPG7Spastic paraplegia
SPTBN2Spinocerebellar ataxia
STUB1Spinocerebellar ataxia
SYT14Spinocerebellar ataxia
TBPSpinocerebellar ataxia
TCTN1Joubert syndrome
TCTN2Joubert syndrome, Meckel syndrome
TCTN3Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome)
TDP1Spinocerebellar ataxia, with axonal neuropathy
TGM6Spinocerebellar ataxia
TMEM67COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis
TMEM138Joubert syndrome
TMEM216Joubert syndrome, Meckel syndrome
TMEM231Joubert syndrome, Meckel syndrome
TMEM237Joubert syndrome
TMEM240Spinocerebellar ataxia
TPP1Ceroid lipofuscinosis, neuronal, Spinocerebellar ataxia
TRIM32Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle
TTBK2Spinocerebellar ataxia
TTC8Bardet-Biedl syndrome, Retinitis pigmentosa
TTPAAtaxia with isolated vitamin E deficiency
TUBB4ADystonia, Leukodystrophy, hypomyelinating
VAMP1Spastic ataxia
VLDLRCerebellar ataxia, mental retardation, and dysequilibrium syndrome
WDPCPBardet-Biedl syndrome, Congenital heart defects, hamartomas of tongue, and polysyndactyly, Meckel-Gruber syndrome, modifier
WDR81Dysequilibrium syndrome
WFS1Wolfram syndrome
WWOXEpileptic encephalopathy, early infantile, Spinocerebellar ataxia
ZNF423Joubert syndrome, Nephronophthisis
ZNF592Spinocerebellar ataxia
Panel de Atrofia Muscular Espinal
AARSCharcot-Marie-Tooth disease, Epileptic encephalopathy, early infantile
ASAH1Farber lipogranulomatosis, Spinal muscular atrophy with progressive myoclonic epilepsy
ATP7AMenkes disease
BICD2Childhood-onset proximal spinal muscular atrophy with contractures
BSCL2Encephalopathy, progressive, Lipodystrophy, congenital generalized
CHCHD10Myopathy, isolated mitochondrial
DCTN1Neuropathy, distal hereditary motor, Perry syndrome
DNAJB2Charcot-Marie-Tooth disease, Spinal muscular atrophy, distal
DYNC1H1Charcot-Marie-Tooth disease, Mental retardation, Spinal muscular atrophy
EXOSC3Pontocerebellar hypoplasia
EXOSC8Pontocerebellar hypoplasia
FBXO38Neuronopathy, distal hereditary motor
GARSCharcot-Marie-Tooth disease, Neuropathy, distal hereditary motor
HEXAGM2-gangliosidosis, Hexosaminidase A deficiency, Tay-Sachs disease
HSPB1Charcot-Marie-Tooth disease, Neuropathy, distal hereditary motor
HSPB3Neuronopathy, distal hereditary motor
HSPB8Charcot-Marie-Tooth disease, Distal hereditary motor neuronopathy
IGHMBP2Charcot-Marie-Tooth disease, Spinal muscular atrophy, distal
LAS1LSpinal muscular atrophy with respiratory distress
PLEKHG5Charcot-Marie-Tooth disease, Spinal muscular atrophy
REEP1Distal hereditary motor neuronopathy, Spastic paraplegia
SCO2Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Hypertrophic cardiomyopathy (HCM), Leigh syndrome, Myopia
SLC5A7Neuronopathy, distal hereditary motor
SMN1Spinal muscular atrophy
SMN2Spinal muscular atrophy
TRPV4Brachyolmia (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
UBA1Spinal muscular atrophy, infantile
VAPBAmyotrophic lateral sclerosis, Spinal muscular atrophy, late-onset, Finkel
VRK1Pontocerebellar hypoplasia
Panel Completo de Distrofia Muscular / Miopatía
ACTA1Myopathy
ANO5Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies
CAPN3Eosinophilic myositis, Muscular dystrophy, limb-girdle
CAV3Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome
CFL2Nemaline myopathy
COL4A1Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Anterior segment dysgenesis with cerebral involvement, Brain small vessel disease, Porencephaly, Retinal artery tortuosity, Schizencephaly
COL4A2Hemorrhage, intracerebral
COL6A1Bethlem myopathy, Ullrich congenital muscular dystrophy
COL6A2Bethlem myopathy, Epilepsy, progressive myoclonic, Myosclerosis, congenital, Ullrich congenital muscular dystrophy
COL6A3Bethlem myopathy, Dystonia, Ullrich congenital muscular dystrophy
COL12A1Bethlem myopathy, Ullrich congenital muscular dystrophy
DESDilated cardiomyopathy (DCM), Myopathy, myofibrillar
DMDBecker muscular dystrophy, Dilated cardiomyopathy (DCM), Duchenne muscular dystrophy
DNAJB6Muscular dystrophy, limb-girdle
DYSFMiyoshi muscular dystrophy, Muscular dystrophy, limb-girdle, Myopathy, distal, with anterior tibial onset
EMDEmery-Dreifuss muscular dystrophy
FHL1Emery-Dreifuss muscular dystrophy, Myopathy with postural muscle atrophy, Reducing bod myopathy
FKRPMuscular dystrophy-dystroglycanopathy
FKTNDilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (limb-girdle)
GMPPBLimb-girdle muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
ISPDMuscular dystrophy-dystroglycanopathy
KBTBD13Nemaline myopathy
KLHL40Nemaline myopathy
KLHL41Nemaline myopathy
LAMA2Muscular dystrophy, congenital merosin-deficient, Schizophrenia
LARGEMuscular dystrophy-dystroglycanopathy
LIMS2Muscular dystrophy, limb-girdle
LMNADilated 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
LMOD3Severe congenital nemaline myopathy, Typical nemaline myopathy
MTM1Myopathy, centronuclear
MYOTMyopathy, myofibrillar
NEBNemaline myopathy
PNPLA2Neutral lipid storage disease with myopathy
POMGNT1Muscular dystrophy-dystroglycanopathy
POMT1Muscular dystrophy-dystroglycanopathy
POMT2Muscular dystrophy-dystroglycanopathy
SGCAMuscular dystrophy, limb-girdle
SGCBMuscular dystrophy, limb-girdle
SGCDDilated cardiomyopathy (DCM), Muscular dystrophy, limb-girdle
SGCGMuscular dystrophy, limb-girdle
SMCHD1Facioscapulohumeral muscular dystrophy
TCAPDilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Muscular dystrophy, limb-girdle
TMEM43Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy
TNNT1Nemaline myopathy
TNPO3Muscular dystrophy, limb-girdle
TOR1AIP1Muscular dystrophy with progressive weakness, distal contractures and rigid spine
TPM2Arthrogryposis, distal, CAP myopathy, Nemaline myopathy
TPM3CAP myopathy, Myopathy, congenital, with fiber- disproportion, Nemaline myopathy
TRAPPC11Limb-girdle muscular dystrophy
TRIM32Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle
TTNDilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)
Panel Completo de Epilepsia
ABCD1Adrenoleukodystrophy
ADARAicardi-Goutières syndrome, Dyschromatosis symmetrica hereditaria
ADSLAdenylosuccinase deficiency
AFG3L2Spastic ataxia, Spinocerebellar ataxia
AGAAspartylglucosaminuria
AIMP1Leukodystrophy, hypomyelinating
ALDH5A1Succinic semialdehyde dehydrogenase deficiency
ALDH7A1Epilepsy, pyridoxine-dependent
ALG13Congenital disorder of glycosylation
AMACRAlpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defect
AMTGlycine encephalopathy
ARG1Hyperargininemia
ARHGEF9Epileptic encephalopathy, early infantile
ARSAMetachromatic leukodystrophy
ARXCorpus callosum, agenesis of, with abnormal genitalia, Epileptic encephalopathy, Hydranencephaly with abnormal genitalia, Lissencephaly, Mental retardation, Partington syndrome, Proud syndrome
ASAH1Farber lipogranulomatosis, Spinal muscular atrophy with progressive myoclonic epilepsy
ASPAAspartoacylase deficiency (Canavan disease)
ATP13A2Parkinson disease (Kufor-Rakeb syndrome)
ATRXAlpha-thalassemia/mental retardation syndrome, Carpenter-Waziri syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Mental retardation-hypotonic facies syndrome, Smith-Fineman-Myers syndrome
BTDBiotinidase deficiency
CACNA1AEpisodic ataxia, Migraine, familial hemiplegic
CACNA1HChildhood absence epilepsy
CACNB4Episodic ataxia
CASKFG syndrome, Mental retardation, Mental retardation and microcephaly with pontine and cerebellar hypoplasia
CASRFamilial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism, Hypocalcemia, Neonatal hyperparathyroidism
CDKL5Angelman-like syndrome, Epileptic encephalopathy, early infantile, Rett syndrome, atypical
CERS1Epilepsy, progressive myoclonic
CHD2Epileptic encephalopathy, childhood-onset
CHRNA2Epilepsy, nocturnal frontal lobe
CHRNA4Epilepsy, nocturnal frontal lobe
CHRNB2Epilepsy, nocturnal frontal lobe
CLCN2Epilepsy, Leukoencephalopathy with ataxia
CLN3Ceroid lipofuscinosis, neuronal
CLN5Ceroid lipofuscinosis, neuronal
CLN6Ceroid lipofuscinosis, neuronal
CLN8Ceroid lipofuscinosis, neuronal
CNTNAP2Cortical dysplasia-focal epilepsy syndrome, Pitt-Hopkins like syndrome
COL4A1Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Anterior segment dysgenesis with cerebral involvement, Brain small vessel disease, Porencephaly, Retinal artery tortuosity, Schizencephaly
COX15Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Leigh syndrome
CPT2Carnitine palmitoyltransferase II deficiency
CSF1RLeukoencephalopathy, diffuse hereditary, with spheroids
CSTBEpilepsy, progressive myoclonic
CTSDCeroid lipofuscinosis, neuronal
CTSFNeuronal ceroid lipofuscinosis
CUL4BMental retardation, syndromic, Cabezas
DARS2Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
DCXLissencephaly, Subcortical laminal heterotopia
DEPDC5Epilepsy, familial focal, with variable foci
DNAJC5Ceroid lipofuscinosis, neuronal 4, Parry, Kufs disease,
DNM1Epileptic encephalopathy, early infantile
DOCK7Epilepitic encephalopathy
DPYD5-fluorouracil toxicity
EARS2Combined oxidative phosphorylation deficiency
EEF1A2Epileptic encephalopathy, early infantile, Mental retardation
EFHC1Epilepsy, juvenile absence, Epilepsy, myoclonic juvenile, Epilepsy, severe intractable
EIF2B1Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy
EIF2B2Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy
EIF2B3Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy
EIF2B4Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy
EIF2B5Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy
EPM2AEpilepsy, progressive myoclonic
ETFAGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency
ETFBGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency
ETFDHGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency
FAM126ALeukodystrophy, hypomyelinating
FHHereditary leiomyomatosis and renal cell cancer
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects
FOLR1Cerebral folate deficiency
FOXG1Rett syndrome, congenital variant
FOXRED1Leigh syndrome, Mitochondrial complex I deficiency
GABRA1Epilepsy, childhood absence, Epilepsy, juvenile myoclonic, Epileptic encephalopathy, early infantile
GABRB3Epilepsy, childhood absence
GABRG2Dravet syndrome, Epilepsy, childhood absence, Familial febrile seizures, Generalized epilepsy with febrile seizures plus
GALCKrabbe disease
GAMTGuanidinoacetate methyltransferase deficiency
GCDHGlutaric aciduria
GCH1Dopa-Responsive Dystonia Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
GFAPAlexander disease
GJC2Leukodystrophy, hypomyelinating, Lymphedema, hereditary, Spastic paraplegia
GLDCGlycine encephalopathy
GNAO1Epileptic encephalopathy, early infantile
GNEInclusion body myopathy, Nonaka myopathy, Sialuria
GOSR2Epilepsy, progessive myoclonic
GPHNHyperekplexia, Molybdenum cofactor deficiency
GRIA3Mental retardation
GRIN2AEpilepsy, focal, with speech disorder
GRIN2BEpileptic encephalopathy, early infantile, Mental retardation
GRNFrontotemporal lobar degeneration with TDP43 inclusions, GRN-related, Neuronal ceroid lipofuscinosis
HCN1Epileptic encephalopathy, early infantile
HEPACAMMegalencephalic leukoencephalopathy with subcortical cysts, remitting
HNRNPUIntellectual disability and seizures
HSD17B1017-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, syndromic
HSPD1Leukodystrophy, hypomyelinating, Spastic paraplegia
IQSEC2Mental retardation
KCNA1Episodic ataxia/myokymia syndrome
KCNA2Epileptic encephalopathy, early infantile
KCNB1Early infantile epileptic encephalopathy
KCNC1Epilepsy, progressive myoclonic
KCNQ2Benign familial neonatal seizures, Epileptic encephalopathy, early infantile, Myokymia
KCNQ3Seizures, benign neonatal
KCNT1Epilepsy, nocturnal frontal lobe
KCTD7Epilepsy, progressive myoclonic
KDM5CMental retardation, syndromic, Claes-Jensen
KIF1AMental retardation, Neuropathy, hereditary sensory, Spastic paraplegia
L2HGDHL-2-hydroxyglutaric aciduria
LGI1Epilepsy, familial temporal lobe
MARS2Combined oxidative phosphorylation deficiency
MBD5Mental retardation
MECP2Angelman-like syndrome, Autism, Encephalopathy, Mental retardation, Rett syndrome
MED12FG syndrome, Lujan-Fryns syndrome, Mental retardation, with Marfanoid habitus, Ohdo syndrome, Opitz-Kaveggia syndrome
MEF2CMental retardation
MFSD8Ceroid lipofuscinosis, neuronal
MLC1Megalencephalic leukoencephalopathy with subcortical cysts
MOCS1Molybdenum cofactor deficiency
MTHFRHomocystinuria due to MTHFR deficiency
MTORSmith-Kingsmore syndrome
NDUFAF5Mitochondrial complex I deficiency
NECAP1Epileptic encephalopathy, early infantile
NEU1Sialidosis
NHLRC1Epilepsy, progressive myoclonic
NOTCH3Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
NRXN1Pitt-Hopkins like syndrome, Schizophrenia
OFD1Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome
OPHN1Mental retardation, with cerebellar hypoplasia and distinctive facial appearance
PCDH19Epileptic encephalopathy, early infantile
PGK1Phosphoglycerate kinase 1 deficiency
PHF6Borjeson-Forssman-Lehmann syndrome
PIGAMultiple congenital anomalies-hypotonia-seizures syndrome
PLCB1Epileptic encephalopathy, early infantile
PLP1Pelizaeus-Merzbacher disease, Spastic paraplegia
PNKPAtaxia-oculomotor, Epileptic encephalopathy, early infantile
PNPOPyridoxamine 5'-phosphate oxidase deficiency
POLR3ALeukodystrophy, hypomyelinating
POLR3BLeukodystrophy, hypomyelinating
PPT1Ceroid lipofuscinosis, neuronal
PRICKLE1Epilepsy, progressive myoclonic
PRICKLE2Epilepsy, progessive myoclonic
PRODHHyperprolinemia
PRRT2Episodic kinesigenic dyskinesia
PSAPCombined saposin deficiency, Gaucher disease, atypical, due to saposin C deficiency, Krabbe disease, atypical, Metachromatic leukodystrophy due to saposin-b deficiency
PTSHyperphenylalaninemia, BH4-deficient
PURAMental retardation
QDPRHyperphenylalaninemia, BH4-deficient
RAB39BMental retardation, Waisman parkinsonism-mental retardation syndrome
RELNEpilepsy, familial temporal lobe, Lissencephaly
RNASEH2AAicardi-Goutières syndrome
RNASEH2BAicardi-Goutières syndrome
RNASEH2CAicardi-Goutières syndrome
RNASET2Leukoencephalopathy, cystic, without megalencephaly
SAMHD1Aicardi-Goutières syndrome
SCARB2Epilepsy, progressive myoclonic
SCN1AEpileptic encephalopathy, early infantile, Generalized epilepsy with febrile seizures plus, Migraine, familial hemiplegic
SCN1BAtrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus
SCN2AEpileptic encephalopathy, early infantile, Seizures, benign familial infantile
SCN8ACognitive impairment, Epileptic encephalopathy, early infantile
SCN9AParoxysmal extreme pain disorder
SERPINI1Encephalopathy, familial, with neuroserpin inclusion bodies
SIK1Epileptic encephalopathy, early infantile
SLC2A1Epilepsy, idiopathic generalized, GLUT1 deficiency syndrome, Stomatin-deficient cryohydrocytosis with neurologic defects
SLC6A1Myoclonic-astastic epilepsy
SLC6A8Creatine deficiency syndrome
SLC9A6Mental retardation, syndromic, Christianson
SLC12A5Epileptic encephalopathy, early infantile
SLC13A5Epileptic encephalopathy, early infantile
SLC19A3Thiamine metabolism dysfunction syndrome
SLC25A15Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLC25A22Epileptic encephalopathy, early infantile
SLC35A2Congenital disorder of glycosylation
SLC46A1Folate malabsorption
SMSMental retardation, Snyder-Robinson
SNAP25Myasthenic syndrome, congenital
SOX10Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
SPTAN1Epileptic encephalopathy, early infantile
ST3GAL3Epileptic encephalopathy, early infantile, Mental retardation
ST3GAL5Ganglioside GM3 synthase deficiency
STX1BGeneralized epilepsy with febrile seizures plus
STXBP1Epileptic encephalopathy, early infantile
SUMF1Multiple sulfatase deficiency
SUOXSulfocysteinuria
SYN1Epilepsy, with variable learning disabilities and behavior disorders
SYNGAP1Mental retardation
SZT2Epileptic encephalopathy, early infantile
TBC1D24Deafness, Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome
TCF4Corneal dystrophy, Fuchs endothelial, Pitt-Hopkins syndrome
TPP1Ceroid lipofuscinosis, neuronal, Spinocerebellar ataxia
TREX1Aicardi-Goutières syndrome, Chilblain lupus, Vasculopathy, retinal, with cerebral leukodystrophy
TSC1Lymphangioleiomyomatosis, Tuberous sclerosis
TSC2Lymphangioleiomyomatosis, Tuberous sclerosis
TUBB4ADystonia, Leukodystrophy, hypomyelinating
UBE2AMental retardation, syndromic, Nascimento
UBE3AAngelman syndrome
WDR45Neurodegeneration with brain iron accumulation
WWOXEpileptic encephalopathy, early infantile, Spinocerebellar ataxia
ZEB2Mowat-Wilson syndrome
Panel de Deficiencia de Coenzima Q10
ADCK3Coenzyme Q10 deficiency, Progressive cerebellar ataxia and atrophy, Spinocerebellar ataxia
ANO10Spinocerebellar ataxia
APTXAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemia
COQ2Coenzyme Q10 deficiency
COQ6Coenzyme Q10 deficiency
COQ9Coenzyme Q10 deficiency
ETFAGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency
ETFBGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency
ETFDHGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency
PDSS1Coenzyme Q10 deficiency
PDSS2Coenzyme Q10 deficiency
Panel de Demencia
APOEDysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy, Sea-blue histiocyte disease
APPAlzheimer disease, familial, Cerebral amyloid angiopathy
CHMP2BAmyotrophic lateral sclerosis, CHMP2B-related, Frontotemporal dementia
CSF1RLeukoencephalopathy, diffuse hereditary, with spheroids
FUSAmyotrophic lateral sclerosis, Essential tremor
GRNFrontotemporal lobar degeneration with TDP43 inclusions, GRN-related, Neuronal ceroid lipofuscinosis
MAPTFrontotemporal dementia, Parkinson-dementia syndrome, Pick disease, Supranuclear palsy, progressive
PRNPCreutzfeldt-Jakob disease, Dementia, Lewy body, Gerstmann-Straussler disease, Huntington disease-like, Insomnia, fatal familial, Spongiform encephalopathy with neuropsychiatric features
PSEN1Dilated cardiomyopathy (DCM)
PSEN2Dilated cardiomyopathy (DCM), Peripartum/pregnancy-associated cardiomyopathy
SIGMAR1Amyotrophic lateral sclerosis, Frontotemporal lobar degeneration-motor neuron disease, Spinal muscular atrophy, distal
SORL1Early-onset Alzheimer disease
TARDBPAmyotrophic lateral sclerosis
TREM2Early-onset dementia without bone cysts, Nasu-Hakola disease, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
UBE3AAngelman syndrome
UBQLN2Amyotrophic lateral sclerosis
VCPAmyotrophic 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
ANO5Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies
CAPN3Eosinophilic myositis, Muscular dystrophy, limb-girdle
CAV3Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome
COL4A1Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Anterior segment dysgenesis with cerebral involvement, Brain small vessel disease, Porencephaly, Retinal artery tortuosity, Schizencephaly
COL4A2Hemorrhage, intracerebral
DESDilated cardiomyopathy (DCM), Myopathy, myofibrillar
DMDBecker muscular dystrophy, Dilated cardiomyopathy (DCM), Duchenne muscular dystrophy
DNAJB6Muscular dystrophy, limb-girdle
DYSFMiyoshi muscular dystrophy, Muscular dystrophy, limb-girdle, Myopathy, distal, with anterior tibial onset
FKRPMuscular dystrophy-dystroglycanopathy
FKTNDilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (limb-girdle)
GMPPBLimb-girdle muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
ISPDMuscular dystrophy-dystroglycanopathy
LAMA2Muscular dystrophy, congenital merosin-deficient, Schizophrenia
LARGEMuscular dystrophy-dystroglycanopathy
LIMS2Muscular dystrophy, limb-girdle
LMNADilated 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
MYOTMyopathy, myofibrillar
PNPLA2Neutral lipid storage disease with myopathy
POMGNT1Muscular dystrophy-dystroglycanopathy
POMT1Muscular dystrophy-dystroglycanopathy
POMT2Muscular dystrophy-dystroglycanopathy
SGCAMuscular dystrophy, limb-girdle
SGCBMuscular dystrophy, limb-girdle
SGCDDilated cardiomyopathy (DCM), Muscular dystrophy, limb-girdle
SGCGMuscular dystrophy, limb-girdle
SMCHD1Facioscapulohumeral muscular dystrophy
TCAPDilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Muscular dystrophy, limb-girdle
TNPO3Muscular dystrophy, limb-girdle
TOR1AIP1Muscular dystrophy with progressive weakness, distal contractures and rigid spine
TRAPPC11Limb-girdle muscular dystrophy
TRIM32Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle
TTNDilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)
Panel de Distrofia Muscular de Emery-Dreifuss
DMDBecker muscular dystrophy, Dilated cardiomyopathy (DCM), Duchenne muscular dystrophy
EMDEmery-Dreifuss muscular dystrophy
FHL1Emery-Dreifuss muscular dystrophy, Myopathy with postural muscle atrophy, Reducing bod myopathy
LMNADilated 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
TMEM43Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy
TTNDilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)
Panel de Encefalopatía Epiléptica
ADARAicardi-Goutières syndrome, Dyschromatosis symmetrica hereditaria
ADSLAdenylosuccinase deficiency
ALDH7A1Epilepsy, pyridoxine-dependent
ALG13Congenital disorder of glycosylation
AMTGlycine encephalopathy
ARHGEF9Epileptic encephalopathy, early infantile
ARXCorpus callosum, agenesis of, with abnormal genitalia, Epileptic encephalopathy, Hydranencephaly with abnormal genitalia, Lissencephaly, Mental retardation, Partington syndrome, Proud syndrome
CACNA1AEpisodic ataxia, Migraine, familial hemiplegic
CASKFG syndrome, Mental retardation, Mental retardation and microcephaly with pontine and cerebellar hypoplasia
CDKL5Angelman-like syndrome, Epileptic encephalopathy, early infantile, Rett syndrome, atypical
CHD2Epileptic encephalopathy, childhood-onset
CNTNAP2Cortical dysplasia-focal epilepsy syndrome, Pitt-Hopkins like syndrome
CPT2Carnitine palmitoyltransferase II deficiency
DCXLissencephaly, Subcortical laminal heterotopia
DNM1Epileptic encephalopathy, early infantile
DOCK7Epilepitic encephalopathy
EEF1A2Epileptic encephalopathy, early infantile, Mental retardation
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects
FOXG1Rett syndrome, congenital variant
GABRA1Epilepsy, childhood absence, Epilepsy, juvenile myoclonic, Epileptic encephalopathy, early infantile
GABRB3Epilepsy, childhood absence
GABRG2Dravet syndrome, Epilepsy, childhood absence, Familial febrile seizures, Generalized epilepsy with febrile seizures plus
GAMTGuanidinoacetate methyltransferase deficiency
GLDCGlycine encephalopathy
GNAO1Epileptic encephalopathy, early infantile
GPHNHyperekplexia, Molybdenum cofactor deficiency
GRIN2AEpilepsy, focal, with speech disorder
GRIN2BEpileptic encephalopathy, early infantile, Mental retardation
HCN1Epileptic encephalopathy, early infantile
HEPACAMMegalencephalic leukoencephalopathy with subcortical cysts, remitting
HNRNPUIntellectual disability and seizures
KCNA2Epileptic encephalopathy, early infantile
KCNB1Early infantile epileptic encephalopathy
KCNQ2Benign familial neonatal seizures, Epileptic encephalopathy, early infantile, Myokymia
KCNQ3Seizures, benign neonatal
KCNT1Epilepsy, nocturnal frontal lobe
KIF1AMental retardation, Neuropathy, hereditary sensory, Spastic paraplegia
MBD5Mental retardation
MECP2Angelman-like syndrome, Autism, Encephalopathy, Mental retardation, Rett syndrome
MEF2CMental retardation
MOCS1Molybdenum cofactor deficiency
MTHFRHomocystinuria due to MTHFR deficiency
NECAP1Epileptic encephalopathy, early infantile
NRXN1Pitt-Hopkins like syndrome, Schizophrenia
PCDH19Epileptic encephalopathy, early infantile
PIGAMultiple congenital anomalies-hypotonia-seizures syndrome
PLCB1Epileptic encephalopathy, early infantile
PNKPAtaxia-oculomotor, Epileptic encephalopathy, early infantile
PNPOPyridoxamine 5'-phosphate oxidase deficiency
PURAMental retardation
RNASEH2AAicardi-Goutières syndrome
RNASEH2BAicardi-Goutières syndrome
SAMHD1Aicardi-Goutières syndrome
SCN1AEpileptic encephalopathy, early infantile, Generalized epilepsy with febrile seizures plus, Migraine, familial hemiplegic
SCN1BAtrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus
SCN2AEpileptic encephalopathy, early infantile, Seizures, benign familial infantile
SCN8ACognitive impairment, Epileptic encephalopathy, early infantile
SIK1Epileptic encephalopathy, early infantile
SLC2A1Epilepsy, idiopathic generalized, GLUT1 deficiency syndrome, Stomatin-deficient cryohydrocytosis with neurologic defects
SLC6A8Creatine deficiency syndrome
SLC9A6Mental retardation, syndromic, Christianson
SLC12A5Epileptic encephalopathy, early infantile
SLC13A5Epileptic encephalopathy, early infantile
SLC19A3Thiamine metabolism dysfunction syndrome
SLC25A22Epileptic encephalopathy, early infantile
SLC35A2Congenital disorder of glycosylation
SNAP25Myasthenic syndrome, congenital
SPTAN1Epileptic encephalopathy, early infantile
ST3GAL3Epileptic encephalopathy, early infantile, Mental retardation
ST3GAL5Ganglioside GM3 synthase deficiency
STXBP1Epileptic encephalopathy, early infantile
SYN1Epilepsy, with variable learning disabilities and behavior disorders
SYNGAP1Mental retardation
SZT2Epileptic encephalopathy, early infantile
TBC1D24Deafness, Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome
TCF4Corneal dystrophy, Fuchs endothelial, Pitt-Hopkins syndrome
TREX1Aicardi-Goutières syndrome, Chilblain lupus, Vasculopathy, retinal, with cerebral leukodystrophy
TSC1Lymphangioleiomyomatosis, Tuberous sclerosis
TSC2Lymphangioleiomyomatosis, Tuberous sclerosis
UBE3AAngelman syndrome
WDR45Neurodegeneration with brain iron accumulation
WWOXEpileptic encephalopathy, early infantile, Spinocerebellar ataxia
ZEB2Mowat-Wilson syndrome
Panel de Enfermedad de Parkinson
ATP13A2Parkinson disease (Kufor-Rakeb syndrome)
DNAJC6Juvenile Parkinsonism
FBXO7Parkinson disease
LRRK2Dementia, Lewy body, Parkinson disease
MAPTFrontotemporal dementia, Parkinson-dementia syndrome, Pick disease, Supranuclear palsy, progressive
PARK2Parkinson disease, juvenile
PARK7Parkinson disease, early onset
PINK1Parkinson disease, early onset
PLA2G6Neurodegeneration with brain iron accumulation, Parkinson disease
SLC6A3Parkinsonism-dystonia, infantile
SNCADementia with Lewy bodies, Parkinson disease
VPS35Parkinson disease
Panel de Epilepsia Idiopática Generalizada y Focal
ALDH7A1Epilepsy, pyridoxine-dependent
AMACRAlpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defect
CACNA1HChildhood absence epilepsy
CACNB4Episodic ataxia
CASRFamilial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism, Hypocalcemia, Neonatal hyperparathyroidism
CHRNA2Epilepsy, nocturnal frontal lobe
CHRNA4Epilepsy, nocturnal frontal lobe
CHRNB2Epilepsy, nocturnal frontal lobe
CLCN2Epilepsy, Leukoencephalopathy with ataxia
DEPDC5Epilepsy, familial focal, with variable foci
EFHC1Epilepsy, juvenile absence, Epilepsy, myoclonic juvenile, Epilepsy, severe intractable
GABRA1Epilepsy, childhood absence, Epilepsy, juvenile myoclonic, Epileptic encephalopathy, early infantile
GABRB3Epilepsy, childhood absence
GABRG2Dravet syndrome, Epilepsy, childhood absence, Familial febrile seizures, Generalized epilepsy with febrile seizures plus
GRIN2AEpilepsy, focal, with speech disorder
KCNA1Episodic ataxia/myokymia syndrome
KCNC1Epilepsy, progressive myoclonic
KCNQ2Benign familial neonatal seizures, Epileptic encephalopathy, early infantile, Myokymia
KCNQ3Seizures, benign neonatal
KCNT1Epilepsy, nocturnal frontal lobe
LGI1Epilepsy, familial temporal lobe
MTORSmith-Kingsmore syndrome
PRRT2Episodic kinesigenic dyskinesia
RELNEpilepsy, familial temporal lobe, Lissencephaly
SCN1AEpileptic encephalopathy, early infantile, Generalized epilepsy with febrile seizures plus, Migraine, familial hemiplegic
SCN1BAtrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus
SCN2AEpileptic encephalopathy, early infantile, Seizures, benign familial infantile
SCN8ACognitive impairment, Epileptic encephalopathy, early infantile
SCN9AParoxysmal extreme pain disorder
SLC2A1Epilepsy, idiopathic generalized, GLUT1 deficiency syndrome, Stomatin-deficient cryohydrocytosis with neurologic defects
SLC6A1Myoclonic-astastic epilepsy
STX1BGeneralized epilepsy with febrile seizures plus
TBC1D24Deafness, Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome
Panel de Epilepsia Metabólica
ADSLAdenylosuccinase deficiency
AGAAspartylglucosaminuria
ALDH5A1Succinic semialdehyde dehydrogenase deficiency
ALDH7A1Epilepsy, pyridoxine-dependent
AMTGlycine encephalopathy
ARG1Hyperargininemia
BTDBiotinidase deficiency
DPYD5-fluorouracil toxicity
ETFAGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency
ETFBGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency
ETFDHGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency
FHHereditary leiomyomatosis and renal cell cancer
GAMTGuanidinoacetate methyltransferase deficiency
GCDHGlutaric aciduria
GCH1Dopa-Responsive Dystonia Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
GLDCGlycine encephalopathy
GNEInclusion body myopathy, Nonaka myopathy, Sialuria
GPHNHyperekplexia, Molybdenum cofactor deficiency
L2HGDHL-2-hydroxyglutaric aciduria
MOCS1Molybdenum cofactor deficiency
MTHFRHomocystinuria due to MTHFR deficiency
PGK1Phosphoglycerate kinase 1 deficiency
PNPOPyridoxamine 5'-phosphate oxidase deficiency
PRODHHyperprolinemia
PTSHyperphenylalaninemia, BH4-deficient
QDPRHyperphenylalaninemia, BH4-deficient
SLC2A1Epilepsy, idiopathic generalized, GLUT1 deficiency syndrome, Stomatin-deficient cryohydrocytosis with neurologic defects
SLC25A15Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLC46A1Folate malabsorption
SUOXSulfocysteinuria
Panel de Epilepsia y Retraso Mental Ligado al Cromosoma X
ARHGEF9Epileptic encephalopathy, early infantile
ARXCorpus callosum, agenesis of, with abnormal genitalia, Epileptic encephalopathy, Hydranencephaly with abnormal genitalia, Lissencephaly, Mental retardation, Partington syndrome, Proud syndrome
ATRXAlpha-thalassemia/mental retardation syndrome, Carpenter-Waziri syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Mental retardation-hypotonic facies syndrome, Smith-Fineman-Myers syndrome
CASKFG syndrome, Mental retardation, Mental retardation and microcephaly with pontine and cerebellar hypoplasia
CDKL5Angelman-like syndrome, Epileptic encephalopathy, early infantile, Rett syndrome, atypical
CUL4BMental retardation, syndromic, Cabezas
GRIA3Mental retardation
HSD17B1017-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, syndromic
IQSEC2Mental retardation
KDM5CMental retardation, syndromic, Claes-Jensen
MECP2Angelman-like syndrome, Autism, Encephalopathy, Mental retardation, Rett syndrome
MED12FG syndrome, Lujan-Fryns syndrome, Mental retardation, with Marfanoid habitus, Ohdo syndrome, Opitz-Kaveggia syndrome
OFD1Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome
OPHN1Mental retardation, with cerebellar hypoplasia and distinctive facial appearance
PCDH19Epileptic encephalopathy, early infantile
PGK1Phosphoglycerate kinase 1 deficiency
PHF6Borjeson-Forssman-Lehmann syndrome
RAB39BMental retardation, Waisman parkinsonism-mental retardation syndrome
SLC9A6Mental retardation, syndromic, Christianson
SMSMental retardation, Snyder-Robinson
SYN1Epilepsy, with variable learning disabilities and behavior disorders
UBE2AMental retardation, syndromic, Nascimento
Panel de Esclerosis Lateral Amiotrófica
ALS2Amyotrophic lateral sclerosis, Spastic paralysis
ANGAmyotrophic lateral sclerosis
ATL1Neuropathy, hereditary sensory, Spastic paraplegia
BSCL2Encephalopathy, progressive, Lipodystrophy, congenital generalized
CHCHD10Myopathy, isolated mitochondrial
CHMP2BAmyotrophic lateral sclerosis, CHMP2B-related, Frontotemporal dementia
DCTN1Neuropathy, distal hereditary motor, Perry syndrome
FIG4Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Polymicrogyria, bilateral occipital, Yunis-Varon syndrome
FUSAmyotrophic lateral sclerosis, Essential tremor
GBE1Glycogen storage disease
GRNFrontotemporal lobar degeneration with TDP43 inclusions, GRN-related, Neuronal ceroid lipofuscinosis
HEXAGM2-gangliosidosis, Hexosaminidase A deficiency, Tay-Sachs disease
HNRNPA1Amyotrophic lateral sclerosis, Inclusion body myopathy with early-onset Paget disease
HSPD1Leukodystrophy, hypomyelinating, Spastic paraplegia
KIAA0196Ritscher-Schinzel syndrome (3C syndrome), Spastic paraplegia
KIF5ASpastic paraplegia
OPTNGlaucoma, normal tension, Glaucoma, open angle
PRF1Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosis, Lymphoma, non-Hodgkin
REEP1Distal hereditary motor neuronopathy, Spastic paraplegia
SETXAmyotrophic lateral sclerosis, juvenile, Ataxia with oculomotor apraxia, Spinocerebellar ataxia
SLC52A2Brown-Vialetto-Van Laere syndrome
SLC52A3Brown-Vialetto-Van Laere syndrome, Fazio-Londe disease
SOD1Amyotrophic lateral sclerosis, Keratoconus
SPASTSpastic paraplegia
SPG11Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Spastic paraplegia
SPG20Spastic paraplegia (Troyer syndrome)
SQSTM1Paget disease of bone
TARDBPAmyotrophic lateral sclerosis
UBQLN2Amyotrophic lateral sclerosis
VAPBAmyotrophic lateral sclerosis, Spinal muscular atrophy, late-onset, Finkel
VCPAmyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Inclusion body myopathy with early-onset Paget disease
Panel de Leucodistrofia y Leucoencefalopatía
ABCD1Adrenoleukodystrophy
ADARAicardi-Goutières syndrome, Dyschromatosis symmetrica hereditaria
AIMP1Leukodystrophy, hypomyelinating
ARSAMetachromatic leukodystrophy
ASPAAspartoacylase deficiency (Canavan disease)
CLCN2Epilepsy, Leukoencephalopathy with ataxia
COL4A1Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Anterior segment dysgenesis with cerebral involvement, Brain small vessel disease, Porencephaly, Retinal artery tortuosity, Schizencephaly
COX15Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Leigh syndrome
CSF1RLeukoencephalopathy, diffuse hereditary, with spheroids
DARS2Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
EARS2Combined oxidative phosphorylation deficiency
EIF2B1Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy
EIF2B2Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy
EIF2B3Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy
EIF2B4Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy
EIF2B5Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy
FAM126ALeukodystrophy, hypomyelinating
FOLR1Cerebral folate deficiency
FOXRED1Leigh syndrome, Mitochondrial complex I deficiency
GALCKrabbe disease
GFAPAlexander disease
GJC2Leukodystrophy, hypomyelinating, Lymphedema, hereditary, Spastic paraplegia
HEPACAMMegalencephalic leukoencephalopathy with subcortical cysts, remitting
HSPD1Leukodystrophy, hypomyelinating, Spastic paraplegia
L2HGDHL-2-hydroxyglutaric aciduria
MARS2Combined oxidative phosphorylation deficiency
MLC1Megalencephalic leukoencephalopathy with subcortical cysts
NDUFAF5Mitochondrial complex I deficiency
NOTCH3Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
PLP1Pelizaeus-Merzbacher disease, Spastic paraplegia
POLR3ALeukodystrophy, hypomyelinating
POLR3BLeukodystrophy, hypomyelinating
PSAPCombined saposin deficiency, Gaucher disease, atypical, due to saposin C deficiency, Krabbe disease, atypical, Metachromatic leukodystrophy due to saposin-b deficiency
RNASEH2AAicardi-Goutières syndrome
RNASEH2BAicardi-Goutières syndrome
RNASEH2CAicardi-Goutières syndrome
RNASET2Leukoencephalopathy, cystic, without megalencephaly
SAMHD1Aicardi-Goutières syndrome
SOX10Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
SUMF1Multiple sulfatase deficiency
TREX1Aicardi-Goutières syndrome, Chilblain lupus, Vasculopathy, retinal, with cerebral leukodystrophy
TUBB4ADystonia, Leukodystrophy, hypomyelinating
Panel de Lipofuscinosis Neuronal Ceroidea y Epilepsia Mioclónica Progresiva
AFG3L2Spastic ataxia, Spinocerebellar ataxia
ASAH1Farber lipogranulomatosis, Spinal muscular atrophy with progressive myoclonic epilepsy
ATP13A2Parkinson disease (Kufor-Rakeb syndrome)
CERS1Epilepsy, progressive myoclonic
CLN3Ceroid lipofuscinosis, neuronal
CLN5Ceroid lipofuscinosis, neuronal
CLN6Ceroid lipofuscinosis, neuronal
CLN8Ceroid lipofuscinosis, neuronal
CSTBEpilepsy, progressive myoclonic
CTSDCeroid lipofuscinosis, neuronal
CTSFNeuronal ceroid lipofuscinosis
DNAJC5Ceroid lipofuscinosis, neuronal 4, Parry, Kufs disease,
EPM2AEpilepsy, progressive myoclonic
FOLR1Cerebral folate deficiency
GOSR2Epilepsy, progessive myoclonic
GRNFrontotemporal lobar degeneration with TDP43 inclusions, GRN-related, Neuronal ceroid lipofuscinosis
KCNC1Epilepsy, progressive myoclonic
KCTD7Epilepsy, progressive myoclonic
MFSD8Ceroid lipofuscinosis, neuronal
NEU1Sialidosis
NHLRC1Epilepsy, progressive myoclonic
PPT1Ceroid lipofuscinosis, neuronal
PRICKLE1Epilepsy, progressive myoclonic
PRICKLE2Epilepsy, progessive myoclonic
SCARB2Epilepsy, progressive myoclonic
SERPINI1Encephalopathy, familial, with neuroserpin inclusion bodies
TBC1D24Deafness, Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome
TPP1Ceroid lipofuscinosis, neuronal, Spinocerebellar ataxia
Panel de Migraña
ATP1A2Alternating hemiplegia of childhood, Migraine, familial hemiplegic
ATP1A3Alternating hemiplegia of childhood
CACNA1AEpisodic ataxia, Migraine, familial hemiplegic
KCNK18Migraine, with or without aura
NOTCH3Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
POLGAlpers syndrome, Mitochondrial DNA depletion syndrome, POLG-related ataxia neuropathy spectrum disorders, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Sensory ataxia, dysarthria, and ophthalmoparesis
PRRT2Episodic kinesigenic dyskinesia
SCN1AEpileptic encephalopathy, early infantile, Generalized epilepsy with febrile seizures plus, Migraine, familial hemiplegic
SLC1A3Episodic ataxia
SLC2A1Epilepsy, idiopathic generalized, GLUT1 deficiency syndrome, Stomatin-deficient cryohydrocytosis with neurologic defects
Panel de Miopatía Nemalínica
ACTA1Myopathy
CFL2Nemaline myopathy
KBTBD13Nemaline myopathy
KLHL40Nemaline myopathy
KLHL41Nemaline myopathy
LMOD3Severe congenital nemaline myopathy, Typical nemaline myopathy
MTM1Myopathy, centronuclear
NEBNemaline myopathy
TNNT1Nemaline myopathy
TPM2Arthrogryposis, distal, CAP myopathy, Nemaline myopathy
TPM3CAP myopathy, Myopathy, congenital, with fiber- disproportion, Nemaline myopathy
Panel de Neuropatía de Charcot-Marie-Tooth
AARSCharcot-Marie-Tooth disease, Epileptic encephalopathy, early infantile
AIFM1Deafness
AMACRAlpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defect
ARHGEF10Slowed nerve conduction velocity
ATL1Neuropathy, hereditary sensory, Spastic paraplegia
ATL3Neuropathy, hereditary sensory
ATP7AMenkes disease
BAG3Dilated cardiomyopathy (DCM), Myopathy, myofibrillar
BSCL2Encephalopathy, progressive, Lipodystrophy, congenital generalized
C12ORF65Combined oxidative phosphorylation deficiency, Spastic paraplegia
CCT5Neuropathy, hereditary sensory, with spastic paraplegia
COX6A1Charcot-Marie-Tooth disease
COX10Leigh syndrome, Mitochondrial complex IV deficiency
CTDP1Congenital cataracts, facial dysmorphism, and neuropathy
DCAF8 
DCTN1Neuropathy, distal hereditary motor, Perry syndrome
DHTKD12-aminoadipic and 2-oxoadipic aciduria, Charcot-Marie-Tooth disease
DNM2Charcot-Marie-Tooth disease, Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, Myopathy
DNMT1Cerebellar ataxia, deafness, and narcolepsy, Neuropathy, hereditary sensory
DSTNeuropathy, hereditary sensory and autonomic
DYNC1H1Charcot-Marie-Tooth disease, Mental retardation, Spinal muscular atrophy
EGR2Charcot-Marie-Tooth disease, Dejerine-Sottas disease, Neuropathy
FAM134BNeuropathy, hereditary sensory and autonomic
FBLN5Cutis laxa, Macular degeneration, age-related
FGD4Charcot-Marie-Tooth disease
FIG4Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Polymicrogyria, bilateral occipital, Yunis-Varon syndrome
FXNFriedreich ataxia
GANGiant axonal neuropathy
GARSCharcot-Marie-Tooth disease, Neuropathy, distal hereditary motor
GDAP1Charcot-Marie-Tooth disease
GJB1Charcot-Marie-Tooth neuropathy
GNB4Charcot-Marie-Tooth disease
GNEInclusion body myopathy, Nonaka myopathy, Sialuria
HADHBTrifunctional protein deficiency
HARSUsher syndrome
HINT1Axonal neuropathy with neuromyotonia
HK1Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HSPB1Charcot-Marie-Tooth disease, Neuropathy, distal hereditary motor
HSPB8Charcot-Marie-Tooth disease, Distal hereditary motor neuronopathy
IGHMBP2Charcot-Marie-Tooth disease, Spinal muscular atrophy, distal
INF2Charcot-Marie-Tooth disease, Glomerulosclerosis
KARSCharcot-Marie-Tooth disease
KIF1AMental retardation, Neuropathy, hereditary sensory, Spastic paraplegia
KIF1BNeuroblastoma, Pheochromocytoma
KIF5ASpastic paraplegia
LDB3Dilated cardiomyopathy (DCM), Myopathy, myofibrillar
LITAFCharcot-Marie-Tooth disease
LMNADilated 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
LRSAM1Charcot-Marie-Tooth disease
MARSInterstitial lung and liver disease
MED25Basel-Vanagait-Smirin-Yosef syndrome, Charcot-Marie-Tooth disease
MFN2Charcot-Marie-Tooth disease, Hereditary motor and sensory neuropathy
MPZCharcot-Marie-Tooth disease, Dejerine-Sottas disease, Neuropathy, Roussy-Levy syndrome
MTMR2Charcot-Marie-Tooth disease
MYOTMyopathy, myofibrillar
NDRG1Charcot-Marie-Tooth disease
NEFLCharcot-Marie-Tooth disease
NGFNeuropathy, hereditary sensory and autonomic
NTRK1Insensitivity to pain, congenital, with anhidrosis
PDK3Charcot-Marie-Tooth disease
PLEKHG5Charcot-Marie-Tooth disease, Spinal muscular atrophy
PMP22Charcot-Marie-Tooth disease, Dejerine-Sottas disease, Neuropathy, hereditary, with liability to pressurve palsies, Neuropathy, inflammatory demyelinating, Roussy-Levy syndrome
POLGAlpers syndrome, Mitochondrial DNA depletion syndrome, POLG-related ataxia neuropathy spectrum disorders, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Sensory ataxia, dysarthria, and ophthalmoparesis
PRPS1Arts syndrome, Deafness, Phosphoribosylpyrophosphate synthetase I superactivity
PRXCharcot-Marie-Tooth disease, Dejerine-Sottas disease
RAB7ACharcot-Marie-Tooth disease
REEP1Distal hereditary motor neuronopathy, Spastic paraplegia
SACSSpastic ataxia, Charlevoix-Saguenay
SBF1Charcot-Marie-Tooth disease
SBF2Charcot-Marie-Tooth disease
SCN9AParoxysmal extreme pain disorder
SETXAmyotrophic lateral sclerosis, juvenile, Ataxia with oculomotor apraxia, Spinocerebellar ataxia
SH3TC2Charcot-Marie-Tooth disease, Mononeuropathy of the median nerve
SLC12A6Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)
SMAD3Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome
SPG11Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Spastic paraplegia
SPTLC1Neuropathy, hereditary sensory and autonomic
SPTLC2Hereditary sensory and autonomic neuropathy
SURF1Charcot-Marie-Tooth disease, Leigh syndrome
TFGHereditary motor and sensory neuropathy, proximal, Spastic paraplegia
TRIM2Charcot-Marie-Tooth disease
TRPV4Brachyolmia (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
TYMPMitochondrial DNA depletion syndrome
VCPAmyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Inclusion body myopathy with early-onset Paget disease
WNK1Neuropathy, hereditary sensory and autonomic, Pseudohypoaldosteronism
YARSCharcot-Marie-Tooth disease
Panel de Parálisis Periódica
CACNA1SHypokalemic periodic paralysis, Malignant hyperthermia, Thyrotoxic periodic paralysis
CLCN1Myotonia congenita, Myotonia congenita, Myotonia levior
KCNJ2Andersen syndrome, Atrial fibrillation, Long QT syndrome, Short QT syndrome
SCN4AHyperkalemic periodic paralysis, Myasthenic syndrome, congenital, Myotonia, potassium-aggravated, Normokalemic potassium-sensitive periodic paralysis, Paramyotonia congenita
Panel de Paraparesia Espástica
AFG3L2Spastic ataxia, Spinocerebellar ataxia
ALS2Amyotrophic lateral sclerosis, Spastic paralysis
ATL1Neuropathy, hereditary sensory, Spastic paraplegia
B4GALNT1Spastic paraplegia
BSCL2Encephalopathy, progressive, Lipodystrophy, congenital generalized
C12ORF65Combined oxidative phosphorylation deficiency, Spastic paraplegia
C19ORF12Neurodegeneration with brain iron accumulation, Spastic Paraplegia
CYP7B1Bile acid synthesis defect
DDHD1Spastic paraplegia
DDHD2Spastic paraplegia
FA2HSpastic paraplegia
FXNFriedreich ataxia
GALCKrabbe disease
GBA2Cerebellar ataxia with spasticity
GJC2Leukodystrophy, hypomyelinating, Lymphedema, hereditary, Spastic paraplegia
HSPD1Leukodystrophy, hypomyelinating, Spastic paraplegia
KDM5CMental retardation, syndromic, Claes-Jensen
KIAA0196Ritscher-Schinzel syndrome (3C syndrome), Spastic paraplegia
KIF1AMental retardation, Neuropathy, hereditary sensory, Spastic paraplegia
KIF5ASpastic paraplegia
L1CAMCRASH 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
MARS2Combined oxidative phosphorylation deficiency
NIPA1Spastic paraplegia
PLP1Pelizaeus-Merzbacher disease, Spastic paraplegia
PNPLA6Boucher-Neuhauser syndrome, Laurence-Moon syndrome
REEP1Distal hereditary motor neuronopathy, Spastic paraplegia
SACSSpastic ataxia, Charlevoix-Saguenay
SETXAmyotrophic lateral sclerosis, juvenile, Ataxia with oculomotor apraxia, Spinocerebellar ataxia
SLC16A2Allan-Herndon-Dudley syndrome
SLC33A1Congenital cataracts, hearing loss, and neurodegeneration
SPASTSpastic paraplegia
SPG7Spastic paraplegia
SPG11Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Spastic paraplegia
SPG20Spastic paraplegia (Troyer syndrome)
SPRDystonia, Dopa-responsive, due to sepiapterin reductase deficiency
Panel de Retardo Mental Ligado al Cromosoma X
ABCD1Adrenoleukodystrophy
ACSL4Mental retardation
AFF2Premature ovarian failure
AGTR2Mental retardation
AP1S2Mental retardation, syndromic, Fried (Pettigrew syndrome)
ARHGEF6Mental retardation
ARHGEF9Epileptic encephalopathy, early infantile
ARXCorpus callosum, agenesis of, with abnormal genitalia, Epileptic encephalopathy, Hydranencephaly with abnormal genitalia, Lissencephaly, Mental retardation, Partington syndrome, Proud syndrome
ATP6AP2Mental retardation, syndromic, Hedera, Parkinsonism with spasticity
ATP7AMenkes disease
ATRXAlpha-thalassemia/mental retardation syndrome, Carpenter-Waziri syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Mental retardation-hypotonic facies syndrome, Smith-Fineman-Myers syndrome
BCORMicrophthalmia, syndromic, Oculofaciocardiodental syndrome
BRWD3Mental retardation
CASKFG syndrome, Mental retardation, Mental retardation and microcephaly with pontine and cerebellar hypoplasia
CDKL5Angelman-like syndrome, Epileptic encephalopathy, early infantile, Rett syndrome, atypical
CUL4BMental retardation, syndromic, Cabezas
DCXLissencephaly, Subcortical laminal heterotopia
DKC1Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome
DLG3Mental retardation
ELK1 
FANCBFanconi anemia
FGD1Aarskog-Scott syndrome, Mental retardation, syndromic
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects
FMR1Premature ovarian failure
FTSJ1Mental retardation
GDI1Mental retardation
GKGlycerol kinase deficiency
GPC3Simpson-Golabi-Behmel syndrome
GRIA3Mental retardation
HCCSLinear skin defects with multiple congenital anomalies 1 (MIDAS syndrome)
HPRT1Kelley-Seegmiller syndrome, Lesch-Nyhan syndrome
HSD17B1017-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, syndromic
HUWE1Mental retardation, syndromic, Turner
IDSMucopolysaccharidosis
IGBP1Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
IL1RAPL1Mental retardation
IQSEC2Mental retardation
KDM5CMental retardation, syndromic, Claes-Jensen
KIAA2022Mental retardation
KLF8 
L1CAMCRASH 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
LAMP2Danon disease
MAGT1Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia
MAOABrunner syndrome
MBTPS2IFAP syndrome, Keratosis follicularis spinulosa decalvans, Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques
MECP2Angelman-like syndrome, Autism, Encephalopathy, Mental retardation, Rett syndrome
MED12FG syndrome, Lujan-Fryns syndrome, Mental retardation, with Marfanoid habitus, Ohdo syndrome, Opitz-Kaveggia syndrome
MID1Opitz GBBB syndrome
MTM1Myopathy, centronuclear
NDPExudative vitreoretinopathy, Norrie disease
NDUFA1Mitochondrial complex I deficiency
NHSCataract, Nance-Horan syndrome
NLGN3Asperger syndrome, Autism
NLGN4XAsperger syndrome, Autism, Mental retardation
NSDHLCK syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
NXF5Familial heart block and focal segmental glomerulosclerosis
OCRLDent disease, Lowe syndrome
OFD1Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome
OPHN1Mental retardation, with cerebellar hypoplasia and distinctive facial appearance
OTCOrnithine transcarbamylase deficiency
PAK3Mental retardation
PCDH19Epileptic encephalopathy, early infantile
PDHA1Leigh syndrome, Pyruvate dehydrogenase E1-alpha deficiency
PGK1Phosphoglycerate kinase 1 deficiency
PHF6Borjeson-Forssman-Lehmann syndrome
PHF8Mental retardation syndrome, Siderius
PLP1Pelizaeus-Merzbacher disease, Spastic paraplegia
PORCNFocal dermal hypoplasia
PQBP1Renpenning syndrome
PRPS1Arts syndrome, Deafness, Phosphoribosylpyrophosphate synthetase I superactivity
RAB39BMental retardation, Waisman parkinsonism-mental retardation syndrome
RPL10Autism
RPS6KA3Coffin-Lowry syndrome, Mental retardation
SHROOM4Stocco dos Santos mental retardation syndrome
SLC6A8Creatine deficiency syndrome
SLC9A6Mental retardation, syndromic, Christianson
SLC16A2Allan-Herndon-Dudley syndrome
SMC1ACornelia de Lange syndrome
SMSMental retardation, Snyder-Robinson
SOX3Panhypopituitarism
SRPX2Rolandic epilepsy, mental retardation, and speech dyspraxia
SYN1Epilepsy, with variable learning disabilities and behavior disorders
SYPMental retardation
TIMM8AJensen syndrome, Mohr-Tranebjaerg syndrome, Opticoacoustic nerve atrophy with dementia
TSPAN7Mental retardation
UBE2AMental retardation, syndromic, Nascimento
UPF3BMental retardation, syndromic
ZCCHC12Intellectual disability
ZDHHC9Mental retardation, syndromic, Raymond
ZDHHC15Mental retardation
ZNF41Mental retardation
ZNF81Mental retardation
ZNF674Mental retardation
ZNF711Mental retardation
Panel de Síndromes Asociados a Alteración del Colágeno Tipo IV
COL4A1Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Anterior segment dysgenesis with cerebral involvement, Brain small vessel disease, Porencephaly, Retinal artery tortuosity, Schizencephaly
COL4A2Hemorrhage, intracerebral
COL6A1Bethlem myopathy, Ullrich congenital muscular dystrophy
COL6A2Bethlem myopathy, Epilepsy, progressive myoclonic, Myosclerosis, congenital, Ullrich congenital muscular dystrophy
COL6A3Bethlem myopathy, Dystonia, Ullrich congenital muscular dystrophy
COL12A1Bethlem myopathy, Ullrich congenital muscular dystrophy
Panel de Síndrome Miasténico Congénito
AGRNMyasthenic syndrome, congenital
CHATMyasthenic syndrome, congenital
CHRNA1Myasthenic syndrome, congenital
CHRNB1Myasthenic syndrome
CHRNDMyasthenic syndrome
CHRNEMyasthenic syndrome
CHRNGEscobar syndrome, Multiple pterygium syndrome
COLQMyasthenic syndrome, congenital
DOK7Myasthenic syndrome, congenital
DPAGT1Congenital disorder of glycosylation, Myasthenic syndrome, congenital
GFPT1Myasthenic syndrome, congenital
LAMB2Nephrotic syndrome, Pierson syndrome
MUSKMyasthenic syndrome, congenital
PLECEpidermolysis bullosa, Muscular dystrophy, limb-girdle
RAPSNMyasthenic syndrome, congenital
SCN4AHyperkalemic periodic paralysis, Myasthenic syndrome, congenital, Myotonia, potassium-aggravated, Normokalemic potassium-sensitive periodic paralysis, Paramyotonia congenita
STIM1Immunodeficiency, Stormorken syndrome
Panel de Trastornos del Espectro Autista
CACNA1CBrugada syndrome, Timothy syndrome
DHCR7Smith-Lemli-Opitz syndrome
EN2Autism
GAMTGuanidinoacetate methyltransferase deficiency
MECP2Angelman-like syndrome, Autism, Encephalopathy, Mental retardation, Rett syndrome
NLGN3Asperger syndrome, Autism
NLGN4XAsperger syndrome, Autism, Mental retardation
NSD1Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome
PDE8BPigmented nodular adrenocortical disease
PTENBannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome
RPL10Autism
TSC1Lymphangioleiomyomatosis, Tuberous sclerosis
TSC2Lymphangioleiomyomatosis, Tuberous sclerosis

 

Clasificación de Variantes

 

EXOMA

 

MICROARRAYS

Clasificación de Variantes

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

 

Breve guía para entender la clasificación de variantes.

 

Variante patogénica.

La variante es considerada la causa de la enfermedad.

 

Variante casi patogénica.

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

 

Variante de significado incierto.

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

 

Variante casi benigna.

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

 

Variante benigna.

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

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