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Blueprint Genetics Charcot-Marie-Tooth Neuropathy

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Blueprint Genetics Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Panel Test code: NE1301 Is a 105 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of Charcot-Marie-Tooth neuropathy. About Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth (CMT) neuropathy, also known as hereditary motor/sensory neuropathy (HMSN) is the most common genetic cause of neuropathy. Prevalence is estimated to be 1:3,300. CMT is characterized by broad genetic heterogeneity and can be inherited in an autosomal dominant, autosomal recessive or X-linked manner. CMT neuropathy results from involvement of peripheral nerves that can affect the motor system and/or the sensory system. Individuals with CMT experience symmetric, slowly progressive distal motor neuropathy of the arms and legs usually beginning in the first to third decade of life, and resulting in weakness and atrophy of the muscles in the feet and/or hands. Pes cavus foot deformity is common. CMT neuropathies can be divided to demyelinating and axonal forms. Availability 4 weeks Gene Set Description Genes in the Charcot-Marie-Tooth Neuropathy Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD AARS Epileptic encephalopathy, early infantile, Charcot-Marie-Tooth disease AD/AR 9 16 AGTPBP1 Neuropathy AR 3 1 AIFM1 Deafness, Combined oxidative phosphorylation deficiency 6, Cowchock XL 27 31 syndrome AMACR Alpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defect AR 3 8 ARHGEF10 Slowed nerve conduction velocity AD 4 12 ATAD3A* Harel-Yoon syndrome AD/AR 4 17 ATL1 Spastic paraplegia, Neuropathy, hereditary sensory AD 29 84 ATL3 Neuropathy, hereditary sensory AD 1 4 ATP1A1 Charcot-Marie-Tooth disease AD 8 10 ATP7A Menkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, XL 116 354 X-linked 3 BAG3 Dilated cardiomyopathy (DCM), Myopathy, myofibrillar AD 39 62 BICD2 Childhood-onset proximal spinal muscular atrophy with contractures AD 12 28 https://blueprintgenetics.com/ BSCL2 Lipodystrophy, congenital generalized, Encephalopathy, progressive, AD/AR 34 50 Neuropathy, distal hereditary motor, type VA, Charcot-Marie-Tooth disease type 2, Silver syndrome, Silver spastic paraplegia syndrome, Spastic paraplegia 17 C12ORF65 Spastic paraplegia, Combined oxidative phosphorylation deficiency AR 10 11 CCT5 Neuropathy, hereditary sensory, with spastic paraplegia AR 1 1 CHCHD10 Myopathy, isolated mitochondrial, Frontotemporal dementia and/or AD 4 26 amyotrophic lateral sclerosis 2, Spinal muscular atrophy, Jokela type COA7 Spinocerebellar ataxia, Charcot-Marie-Tooth disease AR 2 7 COX10* Leigh syndrome, Mitochondrial complex IV deficiency AR 52 13 COX6A1 Charcot-Marie-Tooth disease AR 2 1 CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy AR 1 1 DCAF8 Giant axonal neuropathy 2, autosomal dominant AD 1 1 DCTN1 Perry syndrome, Neuropathy, distal hereditary motor AD 10 52 DHTKD1 2-aminoadipic and 2-oxoadipic aciduria, Charcot-Marie-Tooth disease AD/AR 11 18 DNM2 Myopathy, Lethal akinesia and musculoskeletal abnormalities, with brain AD/AR 28 47 and retinal hemorrhages, Charcot-Marie-Tooth disease DNMT1 Neuropathy, hereditary sensory, Cerebellar ataxia, deafness, and AD 9 20 narcolepsy DST Neuropathy, hereditary sensory and autonomic AR 13 7 DYNC1H1 Spinal muscular atrophy, Charcot-Marie-Tooth disease, Mental retardation AD 60 71 EGR2 Neuropathy, Dejerine-Sottas disease, Charcot-Marie-Tooth disease AD/AR 13 21 FAM134B Neuropathy, hereditary sensory and autonomic AR 8 5 FBLN5 Cutis laxa, Macular degeneration, age-related AD/AR 13 22 FGD4 Charcot-Marie-Tooth disease AR 21 27 FIG4 Amyotrophic lateral sclerosis, Polymicrogyria, bilateral occipital, Yunis- AD/AR 34 69 Varon syndrome, Charcot-Marie-Tooth disease FXN* Friedreich ataxia AR 13 63 GAN Giant axonal neuropathy AR 18 76 GARS Neuropathy, distal hereditary motor, Charcot-Marie-Tooth disease AD 19 38 GDAP1 Charcot-Marie-Tooth disease AD/AR 39 100 GJB1 Charcot-Marie-Tooth neuropathy XL 98 495 GNB4 Charcot-Marie-Tooth disease AD 2 5 GNE Proximal myopathy and ophthalmoplegia, Nonaka myopathy, Sialuria AD/AR 78 214 https://blueprintgenetics.com/ HADHB Trifunctional protein deficiency AR 20 65 HARS* Charcot-Marie-Tooth disease, axonal, type 2W, Usher syndrome, type 3B AR 6 12 HINT1 Axonal neuropathy with neuromyotonia AR 11 15 HK1 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency, Retinitis AD/AR 9 7 pigmentosa 79, Neuropathy, motor and sensory, Russe type (Charcot- Marie-Tooth disease type 4G) HSPB1 Neuropathy, distal hereditary motor, Charcot-Marie-Tooth disease AD 27 44 HSPB8 Charcot-Marie-Tooth disease, Distal hereditary motor neuronopathy AD 6 9 IGHMBP2 Spinal muscular atrophy, distal, Charcot-Marie-Tooth disease AR 52 128 IKBKAP Dysautonomia, familial, Hereditary sensory and autonomic neuropathy AR 47 6 INF2 Glomerulosclerosis, Charcot-Marie-Tooth disease AD 20 67 KARS Charcot-Marie-Tooth disease AR 9 23 KIF1A Spastic paraplegia, Neuropathy, hereditary sensory, Mental retardation AD/AR 63 42 KIF1B Pheochromocytoma, Neuroblastoma, Charcot-Marie-Tooth disease, type AD 7 12 2A1 KIF5A Spastic paraplegia AD 18 62 LDB3 Dilated cardiomyopathy (DCM), Myopathy, myofibrillar AD 9 14 LITAF Charcot-Marie-Tooth disease AD 10 18 LMNA Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, AD/AR 250 564 Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford type LRSAM1 Charcot-Marie-Tooth disease AD/AR 15 14 MARS Interstitial lung and liver disease, Charcot-Marie-Tooth disease, Charcot- AD/AR 9 13 Marie-Tooth disease, axonal, type 2U MCM3AP Charcot-Marie-Tooth neuropathy AR 8 19 MED25 Basel-Vanagait-Smirin-Yosef syndrome, Charcot-Marie-Tooth disease AR 4 5 MFN2 Hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease AD/AR 70 223 MME Spinocerebellar ataxia 43, Charcot-Marie-Tooth disease, axonal, type 2T AD/AR 14 21 MORC2 Charcot-Marie-Tooth disease type, axonal, type 2Z AD 6 17 MPZ Neuropathy, Roussy-Levy syndrome, Dejerine-Sottas disease, Charcot- AD 108 241 Marie-Tooth disease MTMR2 Charcot-Marie-Tooth disease AR 13 23 MYOT Myopathy, myofibrillar, Muscular dystrophy, limb-girdle, 1A, Myopathy, AD 6 16 spheroid body https://blueprintgenetics.com/ NDRG1 Charcot-Marie-Tooth disease AR 6 8 NEFH* Charcot-Marie-Tooth disease, axonal, type 2CC AD/AR 4 21 NEFL Charcot-Marie-Tooth disease AD 24 40 NGF Neuropathy, hereditary sensory and autonomic AR 2 6 NTRK1 Insensitivity to pain, congenital, with anhidrosis, Medullary thyroid AR 38 123 carcinoma, familial PDK3 Charcot-Marie-Tooth disease XL 1 3 PLEKHG5 Spinal muscular atrophy, Charcot-Marie-Tooth disease AR 16 8 PMP22 Neuropathy, inflammatory demyelinating, Roussy-Levy syndrome, AD/AR 49 165 Dejerine-Sottas disease, Neuropathy, hereditary, with liability to pressurve palsies, Charcot-Marie-Tooth disease POLG POLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, AD/AR 89 290 dysarthria, and ophthalmoparesis, Alpers syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome PRDM12 Neuropathy, hereditary sensory and autonomic, type VIII AR 7 11 PRPS1* Phosphoribosylpyrophosphate synthetase I superactivity, Arts syndrome, XL 27 32 Charcot-Marie-Tooth disease, X-linked recessive, 5, Deafness, X-linked 1 PRX Dejerine-Sottas disease, Charcot-Marie-Tooth disease AR 26 55 RAB7A Charcot-Marie-Tooth disease AD 5 7 REEP1 Spastic paraplegia, Distal hereditary motor neuronopathy AD 16 60 SACS Spastic ataxia, Charlevoix-Saguenay AR 254 262 SBF1 Charcot-Marie-Tooth disease AR 5 10 SBF2 Charcot-Marie-Tooth disease AR 25 21 SCN11A Episodic pain syndrome, familial, 3, Neuropathy, hereditary sensory and AD 8 20 autonomic, type VII SCN9A Paroxysmal extreme pain disorder, Small fiber neuropathy, Erythermalgia, AD/AR 61 125 primary, Generalized epilepsy with febrile seizures plus, type 7, Insensitivity to pain, congenital, autosomal recessive SCYL1 Spinocerebellar ataxia, autosomal recessive 21 AR 12 6 SEPT9 Amyotrophy, hereditary neuralgic AD 4 11 SETX Ataxia with oculomotor apraxia, Amyotrophic lateral sclerosis, juvenile, AD/AR 36 210 Spinocerebellar ataxia SH3TC2 Mononeuropathy of the median nerve, Charcot-Marie-Tooth disease AR 63 89 SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy (Andermann AD/AR 43 19 syndrome) SLC25A46 Neuropathy, hereditary motor and sensory, type VIB AR 14 17 https://blueprintgenetics.com/ SMAD3 Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome AD 48 82 SPG11 Spastic paraplegia, Amyotrophic lateral sclerosis, Charcot-Marie-Tooth AR 162 274 disease SPTBN4 Myopathy, congenital, with neuropathy and deafness AR 6 7 SPTLC1* Neuropathy, hereditary sensory and autonomic AD 8 11 SPTLC2 Hereditary sensory and autonomic neuropathy AD 5 14 SURF1 Leigh syndrome, Charcot-Marie-Tooth disease AR 50 101 TFG Spastic paraplegia, Hereditary motor and sensory neuropathy, proximal AR 4 7 TRIM2 Charcot-Marie-Tooth disease AR 5 8 TRPV4 Metatropic dysplasia, Spondyloepiphyseal dysplasia Maroteaux type, AD 61 78 Parastremmatic dwarfism, Hereditary motor and sensory neuropathy, Spondylometaphyseal dysplasia Kozlowski type, Spinal muscular atrophy, Charcot-Marie-Tooth disease, Brachyolmia (autosomal dominant type), Familial Digital arthropathy with brachydactyly TTR Dystransthyretinemic hyperthyroxinemia, Amyloidosis, hereditary, AD 52 148 transthyretin-related TYMP Mitochondrial
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