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Charcot-Marie-Tooth Neuropathy Panel
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.
The Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel (test code NE1301):
Commonly used ICD-10 code(s) when ordering the Charcot-Marie-Tooth Neuropathy Panel
G60.0 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.
Genes in the Charcot-Marie-Tooth Neuropathy Panel and their clinical significance
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 syndrome XL 27 31
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, X-linked 3 XL 116 354
BAG3 Dilated cardiomyopathy (DCM), Myopathy, myofibrillar AD 39 62
BICD2 Childhood-onset proximal spinal muscular atrophy with contractures AD 12 28
BSCL2 Lipodystrophy, congenital generalized, Encephalopathy, progressive, Neuropathy, distal hereditary motor, type VA, Charcot-Marie-Tooth disease type 2, Silver syndrome, Silver spastic paraplegia syndrome, Spastic paraplegia 17 AR 34 50
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 amyotrophic lateral sclerosis 2, Spinal muscular atrophy, Jokela type AD 4 26
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 and retinal hemorrhages, Charcot-Marie-Tooth disease AD/AR 28 47
DNMT1 Neuropathy, hereditary sensory, Cerebellar ataxia, deafness, and narcolepsy AD 9 20
DST Neuropathy, hereditary sensory and autonomic AR 13 7
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-Varon syndrome, Charcot-Marie-Tooth disease AD/AR 34 69
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 Inclusion body myopathy, Nonaka myopathy, Sialuria AD/AR 78 214
HADHB Trifunctional protein deficiency AR 20 65
HARS Usher syndrome, type IV, Charcot-Marie-Tooth disease, axonal, type 2W AR 6 12
HINT1 Axonal neuropathy with neuromyotonia AR 11 15
HK1# Hemolytic anemia, nonspherocytic, due to hexokinase deficiency, Retinitis pigmentosa 79, Neuropathy, motor and sensory, Russe type (Charcot-Marie-Tooth disease type 4G) AD/AR 9 7
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 2A1 AD 7 12
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, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford type AD/AR 250 564
LRSAM1 Charcot-Marie-Tooth disease AD/AR 15 14
MARS Interstitial lung and liver disease, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, axonal, type 2U AD/AR 9 13
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-Marie-Tooth disease AD 108 241
MTMR2 Charcot-Marie-Tooth disease AR 13 23
MYOT Myopathy, myofibrillar, Muscular dystrophy, limb-girdle, 1A, Myopathy, spheroid body AD 6 16
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 carcinoma, familial AR 38 123
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, Dejerine-Sottas disease, Neuropathy, hereditary, with liability to pressurve palsies, Charcot-Marie-Tooth disease AD/AR 49 165
POLG POLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, dysarthria, and ophthalmoparesis, Alpers syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome AD/AR 89 290
PRDM12 Neuropathy, hereditary sensory and autonomic, type VIII AR 7 11
PRPS1* Phosphoribosylpyrophosphate synthetase I superactivity, Arts syndrome, Charcot-Marie-Tooth disease, X-linked recessive, 5, Deafness, X-linked 1 XL 27 32
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 autonomic, type VII AD 8 20
SCN9A Paroxysmal extreme pain disorder, Small fiber neuropathy, Erythermalgia, primary, Geberalized epilepsy with febrile seizures plus, type 7, Insensitivity to pain, congenital, autosomal recessive AD/AR 61 125
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, Spinocerebellar ataxia AD/AR 36 210
SH3TC2 Mononeuropathy of the median nerve, Charcot-Marie-Tooth disease AR 63 89
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome) AD/AR 43 19
SLC25A46 Neuropathy, hereditary motor and sensory, type VIB AR 14 17
SMAD3 Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome AD 48 82
SPG11 Spastic paraplegia, Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease AR 162 274
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, 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 AD 61 78
TTR Dystransthyretinemic hyperthyroxinemia, Amyloidosis, hereditary, transthyretin-related AD 52 148
TYMP Mitochondrial DNA depletion syndrome AR 84 94
VCP Amyotrophic lateral sclerosis, Inclusion body myopathy with early-onset Paget disease, Charcot-Marie-Tooth disease AD 17 61
WNK1 Neuropathy, hereditary sensory and autonomic, Pseudohypoaldosteronism AD/AR 14 9
YARS Charcot-Marie-Tooth disease AD 6 11
ZFYVE26 Spastic paraplegia 15 AR 63 39
Non-coding variants covered by Charcot-Marie-Tooth Neuropathy Panel
AIFM1 ChrX:129274636 c.697-44T>G NM_004208.3
AIFM1 ChrX:129299753 c.-123G>C NM_004208.3 rs724160014
ATP7A ChrX:77279056 c.2916+2480T>G NM_000052.5
ATP7A ChrX:77287843 c.3294+763C>G NM_000052.5
BSCL2 Chr11:62470032 c.405-11A>G NM_001122955.3
GDAP1 Chr8:75274260 c.579+47A>G NM_018972.2
GJB1 ChrX:70442966 c.-16-576_-16-575insT NM_001097642.2
GJB1 ChrX:70443018 c.-16-524C>G NM_001097642.2
GJB1 ChrX:70443029 c.-16-513T>C/G NM_001097642.2
GJB1 ChrX:70443029 c.-16-513T>C NM_001097642.2 rs1003232768
GJB1 ChrX:70443029 c.-16-513T>G NM_001097642.2
GJB1 ChrX:70443031 c.-16-511G>C NM_001097642.2
GJB1 ChrX:70443099 c.-103C>T NM_000166.5 rs863224971
GJB1 ChrX:70443185 c.-17G>A NM_000166.5
GJB1 ChrX:70443186 c.-17+1G>T NM_000166.5
GJB1 ChrX:70443187 c.-17+2T>C NM_000166.5
GJB1 ChrX:70443539 c.-16-3C>G NM_001097642.2
GJB1 ChrX:70443540 c.-16-2A>G NM_001097642.2
GJB1 ChrX:70443541 c.-16-1G>A NM_001097642.2
GJB1 ChrX:70444424 c.*15C>T NM_001097642.2
HADHB Chr2:26500642 c.442+614A>G NM_000183.2
HK1 Chr10:71038447 c.-390-3838G>C NM_033500.2 rs797044964
HK1 Chr10:71075518 c.27+14901A>G NM_033500.2 rs187500777
HSPB1 Chr7:75931813 c.-217T>C NM_001540.3 rs545738637
IGHMBP2 Chr11:68697719 c.1235+894C>A NM_002180.2
LMNA Chr1:156100609 c.513+45T>G NM_170707.3
LMNA Chr1:156105681 c.937-11C>G NM_170707.3 rs267607645
LMNA Chr1:156107037 c.1608+14G>A NM_170707.3
LMNA Chr1:156107433 c.1609-12T>G NM_170707.3 rs267607582
NTRK1 Chr1:156838278 c.575-19G>A NM_002529.3 rs370828525
NTRK1 Chr1:156843392 c.851-33T>A NM_002529.3 rs80356674
NTRK1 Chr1:156851237 c.2206-12C>A NM_002529.3
NTRK1 Chr1:156851238 c.2206-11G>A NM_002529.3
PMP22 Chr17:15162523 c.79-13T>A NM_000304.3
SEPT9 Chr17:75316275 c.-134G>C NM_006640.4 rs80338760
SH3TC2 Chr5:148406329 c.2873-14T>A NM_024577.3
SH3TC2 Chr5:148422415 c.386-15G>A NM_024577.3
SURF1 Chr9:136220806 c.324-11T>G NM_003172.3 rs375398247
VCP Chr9:35072710 c.-360G>C NM_007126.3
AGTPBP1
ATP1A1
BICD2
MORC2
SCYL1
SPTBN4
The following exons are not included in the panel as they are not sufficiently covered with high quality sequence reads: HK1 (NM_001322365:5). Genes with suboptimal coverage in our assay are marked with number sign (#) and genes with partial, or whole gene, segmental duplications in the human genome are marked with an asterisk (*) if they overlap with the UCSC pseudogene regions. Gene is considered to have suboptimal coverage when >90% of the gene's target nucleotides are not covered at >20x with mapping quality score (MQ>20) reads. The technology may have limited sensitivity to detect variants in genes marked with these symbols (please see the Panel content table above).
CMT United Kingdom
Charcot-Marie-Tooth Association
Charcot-Marie-Tooth Association Australia
GeneReviews
GeneReviews - Charcot-Marie-Tooth Hereditary Neuropathy Overview
GeneReviews - Charcot-Marie-Tooth Neuropathy Type 1
GeneReviews - Charcot-Marie-Tooth Neuropathy X Type 1
Hereditary Neuropathy Foundation
NORD - Charcot-Marie-Tooth Disease
National Organization for Rare Disorders (NORD)