Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx NE analiza 69 genes asociados a diferentes neuropatías usando secuenciación de exoma completo mediante NGS.
Utiliza el buscador para encontrar el grupo de genes relacionados con la patología que te interesa incluidos en el panel:
Gene | Median coverage | % covered > 10x | % covered > 20x | Associated Phenotype description and OMIM disease ID | |
---|---|---|---|---|---|
AARS | 144.7 | 0.99 | 0.99 | Charcot-Marie-Tooth disease, axonal, type 2N, | 613287 |
AARS | 144.7 | 0.99 | 0.99 | Epileptic encephalopathy, early infantile, 29 | 616339 |
ABHD12 | 114.9 | 0.97 | 0.91 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, | 612674 |
AIFM1 | 133.5 | 1 | 0.99 | Combined oxidative phosphorylation deficiency 6 | 300816 |
AIFM1 | 133.5 | 1 | 0.99 | Cowchock syndrome, | 310490 |
AIFM1 | 133.5 | 1 | 0.99 | Deafness, X-linked 5 | 300614 |
ATL1 | 195.9 | 0.98 | 0.95 | Neuropathy, hereditary sensory, type ID, | 613708 |
ATL1 | 195.9 | 0.98 | 0.95 | Spastic paraplegia 3A, autosomal dominant, | 182600 |
ATP7A | 157.3 | 0.99 | 0.97 | Menkes disease, | 309400 |
ATP7A | 157.3 | 0.99 | 0.97 | Occipital horn syndrome, | 304150 |
ATP7A | 157.3 | 0.99 | 0.97 | Spinal muscular atrophy, distal, X-linked 3 | 300489 |
BSCL2 | 126.4 | 1 | 0.99 | Encephalopathy, progressive, with or without lipodystrophy, | 615924 |
BSCL2 | 126.4 | 1 | 0.99 | Lipodystrophy, congenital generalized, type 2 | 269700 |
BSCL2 | 126.4 | 1 | 0.99 | Neuropathy, distal hereditary motor, type VA, | 600794 |
BSCL2 | 126.4 | 1 | 0.99 | Silver spastic paraplegia syndrome, | 270685 |
C10orf2 | 193.6 | 1 | 1 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), | 271245 |
C10orf2 | 193.6 | 1 | 1 | Perrault syndrome 5 | 616138 |
C10orf2 | 193.6 | 1 | 1 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 609286 |
COX6A1 | 205.9 | 1 | 0.99 | Charcot-Marie-Tooth disease, recessive intermediate D, | 616039 |
DCTN1 | 143.1 | 0.99 | 0.99 | Neuropathy, distal hereditary motor, type VIIB, | 607641 |
DCTN1 | 143.1 | 0.99 | 0.99 | Perry syndrome, | 168605 |
DCTN1 | 143.1 | 0.99 | 0.99 | {Amyotrophic lateral sclerosis, susceptibility to}, | 105400 |
DHTKD1 | 162.9 | 0.99 | 0.97 | 2-aminoadipic 2-oxoadipic aciduria, | 204750 |
DHTKD1 | 162.9 | 0.99 | 0.97 | ?Charcot-Marie-Tooth disease, axonal, type 2Q, | 615025 |
DNAJB2 | 121.7 | 1 | 1 | Spinal muscular atrophy, distal, autosomal recessive, 5 | 614881 |
DNM2 | 143.2 | 0.98 | 0.96 | Charcot-Marie-Tooth disease, axonal, type 2M, | 606482 |
DNM2 | 143.2 | 0.98 | 0.96 | Charcot-Marie-Tooth disease, dominant intermediate B, | 606482 |
DNM2 | 143.2 | 0.98 | 0.96 | Lethal congenital contracture syndrome 5 | 615368 |
DNM2 | 143.2 | 0.98 | 0.96 | Myopathy, centronuclear, | 160150 |
DNMT1 | 129 | 0.99 | 0.98 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, | 604121 |
DNMT1 | 129 | 0.99 | 0.98 | Neuropathy, hereditary sensory, type IE, | 614116 |
DYNC1H1 | 196.8 | 1 | 0.99 | Charcot-Marie-Tooth disease, axonal, type 20 | 614228 |
DYNC1H1 | 196.8 | 1 | 0.99 | Mental retardation, autosomal dominant 13 | 614563 |
DYNC1H1 | 196.8 | 1 | 0.99 | Spinal muscular atrophy, lower extremity-predominant 1 AD, | 158600 |
EGR2 | 140.3 | 1 | 0.99 | Charcot-Marie-Tooth disease, type 1D, | 607678 |
EGR2 | 140.3 | 1 | 0.99 | Dejerine-Sottas disease, | 145900 |
EGR2 | 140.3 | 1 | 0.99 | Neuropathy, congenital hypomyelinating, 1 | 605253 |
EXOSC8 | 93.2 | 0.91 | 0.79 | Pontocerebellar hypoplasia, type 1C, | 616081 |
FAM134B | 123.8 | 0.95 | 0.88 | Neuropathy, hereditary sensory and autonomic, type IIB, | 613115 |
FGD4 | 119.4 | 0.97 | 0.95 | Charcot-Marie-Tooth disease, type 4H, | 609311 |
FIG4 | 187.1 | 0.99 | 0.98 | Amyotrophic lateral sclerosis 11 | 612577 |
FIG4 | 187.1 | 0.99 | 0.98 | Charcot-Marie-Tooth disease, type 4J, | 611228 |
FIG4 | 187.1 | 0.99 | 0.98 | Yunis-Varon syndrome, | 216340 |
FIG4 | 187.1 | 0.99 | 0.98 | ?Polymicrogyria, bilateral temporooccipital, | 612691 |
GAN | 210.8 | 0.99 | 0.99 | Giant axonal neuropathy-1, | 256850 |
GARS | 147.8 | 0.99 | 0.97 | Charcot-Marie-Tooth disease, type 2D, | 601472 |
GARS | 147.8 | 0.99 | 0.97 | Neuropathy, distal hereditary motor, type VA, | 600794 |
GDAP1 | 195.1 | 0.99 | 0.97 | Charcot-Marie-Tooth disease, axonal, type 2K, | 607831 |
GDAP1 | 195.1 | 0.99 | 0.97 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, | 607706 |
GDAP1 | 195.1 | 0.99 | 0.97 | Charcot-Marie-Tooth disease, recessive intermediate, A, | 608340 |
GDAP1 | 195.1 | 0.99 | 0.97 | Charcot-Marie-Tooth disease, type 4A, | 214400 |
GJB1 | 237.6 | 1 | 0.99 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | 302800 |
GNB4 | 165.4 | 1 | 0.99 | Charcot-Marie-Tooth disease, dominant intermediate F, | 615185 |
HINT1 | 58.1 | 0.98 | 0.88 | Neuromyotonia and axonal neuropathy, autosomal recessive, | 137200 |
HSPB1 | 40.9 | 0.95 | 0.82 | Charcot-Marie-Tooth disease, axonal, type 2F, | 606595 |
HSPB1 | 40.9 | 0.95 | 0.82 | Neuropathy, distal hereditary motor, type IIB, | 608634 |
HSPB3 | 329.8 | 1 | 1 | ?Neuronopathy, distal hereditary motor, type IIC, | 613376 |
HSPB8 | 159 | 1 | 1 | Charcot-Marie-Tooth disease, axonal, type 2L, | 608673 |
HSPB8 | 159 | 1 | 1 | Neuropathy, distal hereditary motor, type IIA, | 158590 |
IGHMBP2 | 113.2 | 0.99 | 0.94 | Charcot-Marie-Tooth disease, axonal, type 2S, | 616155 |
IGHMBP2 | 113.2 | 0.99 | 0.94 | Neuronopathy, distal hereditary motor, type VI, | 604320 |
IKBKAP | 159.4 | 0.99 | 0.98 | Dysautonomia, familial, | 223900 |
INF2 | 97.9 | 0.93 | 0.9 | Charcot-Marie-Tooth disease, dominant intermediate E, | 614455 |
INF2 | 97.9 | 0.93 | 0.9 | Glomerulosclerosis, focal segmental, 5 | 613237 |
KARS | 141.2 | 1 | 0.99 | Deafness, autosomal recessive 89 | 613916 |
KARS | 141.2 | 1 | 0.99 | ?Charcot-Marie-Tooth disease, recessive intermediate, B, | 613641 |
KIF1A | 134.8 | 0.99 | 0.97 | Mental retardation, autosomal dominant 9 | 614255 |
KIF1A | 134.8 | 0.99 | 0.97 | Neuropathy, hereditary sensory, type IIC, | 614213 |
KIF1A | 134.8 | 0.99 | 0.97 | Spastic paraplegia 30 autosomal recessive, | 610357 |
KIF1B | 177 | 0.99 | 0.99 | Pheochromocytoma, | 171300 |
KIF1B | 177 | 0.99 | 0.99 | ?Charcot-Marie-Tooth disease, type 2A1, | 118210 |
KIF1B | 177 | 0.99 | 0.99 | {Neuroblastoma, susceptibility to, 1}, | 256700 |
KIF5A | 147.5 | 1 | 0.99 | Spastic paraplegia 10 autosomal dominant, | 604187 |
LITAF | 127.7 | 0.97 | 0.92 | Charcot-Marie-Tooth disease, type 1C, | 601098 |
LMNA | 90.4 | 0.96 | 0.89 | Cardiomyopathy, dilated, 1A, | 115200 |
LMNA | 90.4 | 0.96 | 0.89 | Charcot-Marie-Tooth disease, type 2B1, | 605588 |
LMNA | 90.4 | 0.96 | 0.89 | Emery-Dreifuss muscular dystrophy 2 AD, | 181350 |
LMNA | 90.4 | 0.96 | 0.89 | Emery-Dreifuss muscular dystrophy 3 AR, | 616516 |
LMNA | 90.4 | 0.96 | 0.89 | Heart-hand syndrome, Slovenian type, | 610140 |
LMNA | 90.4 | 0.96 | 0.89 | Hutchinson-Gilford progeria, | 176670 |
LMNA | 90.4 | 0.96 | 0.89 | Lipodystrophy, familial partial, 2 | 151660 |
LMNA | 90.4 | 0.96 | 0.89 | Malouf syndrome, | 212112 |
LMNA | 90.4 | 0.96 | 0.89 | Mandibuloacral dysplasia, | 248370 |
LMNA | 90.4 | 0.96 | 0.89 | Muscular dystrophy, congenital, | 613205 |
LMNA | 90.4 | 0.96 | 0.89 | Muscular dystrophy, limb-girdle, type 1B, | 159001 |
LMNA | 90.4 | 0.96 | 0.89 | Restrictive dermopathy, lethal, | 275210 |
LRSAM1 | 148.7 | 1 | 0.99 | Charcot-Marie-Toothe disease, axonal, type 2P, | 614436 |
MED25 | 114.4 | 0.98 | 0.93 | Basel-Vanagait-Smirin-Yosef syndrome, | 616449 |
MED25 | 114.4 | 0.98 | 0.93 | ?Charcot-Marie-Tooth disease, type 2B2, | 605589 |
MFN2 | 159.7 | 1 | 1 | Charcot-Marie-Tooth disease, type 2A2, | 609260 |
MFN2 | 159.7 | 1 | 1 | Hereditary motor and sensory neuropathy VIA, | 601152 |
MPZ | 116 | 0.99 | 0.98 | Charcot-Marie-Tooth disease, dominant intermediate D, | 607791 |
MPZ | 116 | 0.99 | 0.98 | Charcot-Marie-Tooth disease, type 1B, | 118200 |
MPZ | 116 | 0.99 | 0.98 | Charcot-Marie-Tooth disease, type 2I, | 607677 |
MPZ | 116 | 0.99 | 0.98 | Charcot-Marie-Tooth disease, type 2J, | 607736 |
MPZ | 116 | 0.99 | 0.98 | Dejerine-Sottas disease, | 145900 |
MPZ | 116 | 0.99 | 0.98 | Neuropathy, congenital hypomyelinating, | 605253 |
MPZ | 116 | 0.99 | 0.98 | Roussy-Levy syndrome, | 180800 |
MTMR2 | 130.1 | 0.99 | 0.98 | Charcot-Marie-Tooth disease, type 4B1, | 601382 |
NDRG1 | 150.8 | 1 | 0.99 | Charcot-Marie-Tooth disease, type 4D, | 601455 |
NEFL | 160 | 0.99 | 0.97 | Charcot-Marie-Tooth disease, type 1F, | 607734 |
NEFL | 160 | 0.99 | 0.97 | Charcot-Marie-Tooth disease, type 2E, | 607684 |
NGF | 286.7 | 1 | 1 | Neuropathy, hereditary sensory and autonomic, type V, | 608654 |
NTRK1 | 142.6 | 0.99 | 0.97 | Insensitivity to pain, congenital, with anhidrosis, | 256800 |
NTRK1 | 142.6 | 0.99 | 0.97 | Medullary thyroid carcinoma, familial, | 155240 |
PLEKHG5 | 98.6 | 0.96 | 0.91 | Charcot-Marie-Tooth disease, recessive intermediate C, | 615376 |
PLEKHG5 | 98.6 | 0.96 | 0.91 | Spinal muscular atrophy, distal, autosomal recessive, 4 | 611067 |
PMP22 | 120.6 | 0.94 | 0.89 | Charcot-Marie-Tooth disease, type 1A, | 118220 |
PMP22 | 120.6 | 0.94 | 0.89 | Charcot-Marie-Tooth disease, type 1E, | 118300 |
PMP22 | 120.6 | 0.94 | 0.89 | Dejerine-Sottas disease, | 145900 |
PMP22 | 120.6 | 0.94 | 0.89 | Neuropathy, inflammatory demyelinating, | 139393 |
PMP22 | 120.6 | 0.94 | 0.89 | Neuropathy, recurrent, with pressure palsies, | 162500 |
PMP22 | 120.6 | 0.94 | 0.89 | Roussy-Levy syndrome, | 180800 |
PRPS1 | 201.5 | 1 | 1 | Arts syndrome, | 301835 |
PRPS1 | 201.5 | 1 | 1 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | 311070 |
PRPS1 | 201.5 | 1 | 1 | Deafness, X-linked 1 | 304500 |
PRPS1 | 201.5 | 1 | 1 | Gout, PRPS-related, | 300661 |
PRPS1 | 201.5 | 1 | 1 | Phosphoribosylpyrophosphate synthetase superactivity, | 300661 |
PRX | 115 | 0.99 | 0.98 | Charcot-Marie-Tooth disease, type 4F, | 614895 |
PRX | 115 | 0.99 | 0.98 | Dejerine-Sottas disease, | 145900 |
RAB7A | 171.3 | 1 | 1 | Charcot-Marie-Tooth disease,type 2B, | 600882 |
SBF2 | 139.2 | 0.99 | 0.96 | Charcot-Marie-Tooth disease, type 4B2, | 604563 |
SCN10A | 194.2 | 0.99 | 0.99 | Episodic pain syndrome, familial, 2 | 615551 |
SCN11A | 155 | 0.99 | 0.97 | Episodic pain syndrome, familial, 3 | 615552 |
SCN11A | 155 | 0.99 | 0.97 | Neuropathy, hereditary sensory and autonomic, type VII, | 615548 |
SCN9A | 160.5 | 0.98 | 0.96 | Epilepsy, generalized, with febrile seizures plus, type 7 | 613863 |
SCN9A | 160.5 | 0.98 | 0.96 | Erythermalgia, primary, | 133020 |
SCN9A | 160.5 | 0.98 | 0.96 | Febrile seizures, familial, 3B, | 613863 |
SCN9A | 160.5 | 0.98 | 0.96 | HSAN2D, autosomal recessive, | 243000 |
SCN9A | 160.5 | 0.98 | 0.96 | Insensitivity to pain, congenital, | 243000 |
SCN9A | 160.5 | 0.98 | 0.96 | Paroxysmal extreme pain disorder, | 167400 |
SCN9A | 160.5 | 0.98 | 0.96 | Small fiber neuropathy, | 133020 |
SCN9A | 160.5 | 0.98 | 0.96 | {Dravet syndrome, modifier of}, | 607208 |
SH3TC2 | 122.4 | 0.99 | 0.99 | Charcot-Marie-Tooth disease, type 4C, | 601596 |
SH3TC2 | 122.4 | 0.99 | 0.99 | Mononeuropathy of the median nerve, mild, | 613353 |
SLC12A6 | 169.6 | 1 | 0.99 | Agenesis of the corpus callosum with peripheral neuropathy, | 218000 |
SLC52A3 | 124.5 | 1 | 0.99 | Brown-Vialetto-Van Laere syndrome 1 | 211530 |
SLC52A3 | 124.5 | 1 | 0.99 | Fazio-Londe disease, | 211500 |
SLC5A7 | 135.7 | 1 | 0.99 | Neuronopathy, distal hereditary motor, type VIIA, | 158580 |
SMN1 | 101.6 | 0.99 | 0.95 | Spinal muscular atrophy-1, | 253300 |
SMN1 | 101.6 | 0.99 | 0.95 | Spinal muscular atrophy-2, | 253550 |
SMN1 | 101.6 | 0.99 | 0.95 | Spinal muscular atrophy-3, | 253400 |
SMN1 | 101.6 | 0.99 | 0.95 | Spinal muscular atrophy-4, | 271150 |
SPTLC1 | 132.3 | 0.98 | 0.95 | Neuropathy, hereditary sensory and autonomic, type IA, | 162400 |
SPTLC2 | 178 | 1 | 0.99 | Neuropathy, hereditary sensory and autonomic, type IC, | 613640 |
SYT2 | 115.8 | 1 | 0.99 | Myasthenic syndrome, congenital, 7 presynaptic, | 616040 |
TFG | 123.8 | 0.95 | 0.92 | Hereditary motor and sensory neuropathy, Okinawa type, | 604484 |
TFG | 123.8 | 0.95 | 0.92 | ?Spastic paraplegia 57 autosomal recessive, | 615658 |
TRPV4 | 199.2 | 0.99 | 0.98 | Brachyolmia type 3 | 113500 |
TRPV4 | 199.2 | 0.99 | 0.98 | Digital arthropathy-brachydactyly, familial, | 606835 |
TRPV4 | 199.2 | 0.99 | 0.98 | Hereditary motor and sensory neuropathy, type IIc, | 606071 |
TRPV4 | 199.2 | 0.99 | 0.98 | Metatropic dysplasia, | 156530 |
TRPV4 | 199.2 | 0.99 | 0.98 | Parastremmatic dwarfism, | 168400 |
TRPV4 | 199.2 | 0.99 | 0.98 | Scapuloperoneal spinal muscular atrophy, | 181405 |
TRPV4 | 199.2 | 0.99 | 0.98 | SED, Maroteaux type, | 184095 |
TRPV4 | 199.2 | 0.99 | 0.98 | Spinal muscular atrophy, distal, congenital nonprogressive, | 600175 |
TRPV4 | 199.2 | 0.99 | 0.98 | Spondylometaphyseal dysplasia, Kozlowski type, | 184252 |
TRPV4 | 199.2 | 0.99 | 0.98 | [Sodium serum level QTL 1], | 613508 |
TTR | 180.3 | 1 | 1 | Amyloidosis, hereditary, transthyretin-related, | 105210 |
TTR | 180.3 | 1 | 1 | Carpal tunnel syndrome, familial, | 115430 |
TTR | 180.3 | 1 | 1 | [Dystransthyretinemic hyperthyroxinemia], | 145680 |
VCP | 168.4 | 0.99 | 0.99 | Amyotrophic lateral sclerosis 14 with or without frontotemporal dementia, | 613954 |
VCP | 168.4 | 0.99 | 0.99 | Charcot-Marie-Tooth disease, type 2Y, | 616687 |
VCP | 168.4 | 0.99 | 0.99 | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 | 167320 |
WNK1 | 182.1 | 0.99 | 0.98 | Neuropathy, hereditary sensory and autonomic, type II, | 201300 |
WNK1 | 182.1 | 0.99 | 0.98 | Pseudohypoaldosteronism, type IIC, | 614492 |
YARS | 138.7 | 1 | 0.99 | Charcot-Marie-Tooth disease, dominant intermediate C, | 608323 |