List of diseases covered by
Charcot-Marie-Tooth Disease NGS panel


Gene Condition
AARS1 Charcot-Marie-Tooth disease,axonal, type 2N;
Epileptic encephalopathy, early infantile, 29
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
AIFM1 Cowchock syndrome;
Combined oxidative phosphorylation deficiency 6
ARHGEF10 Slowed nerve conduction velocity, AD
ARSA Metachromatic leukodystrophy
ATP1A1 Charcot-Marie-Tooth disease, axonal, type 2DD;
Hypomagnesemia, seizures, and mental retardation 2
B4GALNT1 Spastic paraplegia 26, autosomal recessive
BSCL2 Neuropathy, distal hereditary motor, type VA;
Encephalopathy, progressive, with or without lipodystrophy;
Lipodystrophy, congenital generalized, type 2;
Silver spastic paraplegia syndrome
C12orf65 Combined oxidative phosphorylation deficiency 7;
Spastic paraplegia 55, autosomal recessive
COX6A1 Charcot-Marie-Tooth disease, recessive intermediate D
CLCN1 Myotonia congenita, autosomal dominant and autosomal recessive
CPT2 Carnitine palmitoyltransferase II deficiency: Myopathic, stress-induced / infantile / lethal neonatal; Encephalopathy, acute, infection-induced, susceptibility to, 4
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy
DCTN1 Neuropathy, distal hereditary motor, type VIIB; Perry syndrome
DHTKD1 Charcot-Marie-Tooth disease, axonal, type 2Q
DNAJB2 Spinal muscular atrophy, distal, autosomal recessive, 5
DNM2 Charcot-Marie-Tooth disease, axonal type 2M;
Centronuclear myopathy 1;
Lethal congenital contracture syndrome 5
DNMT1 Neuropathy, hereditary sensory, type IE;
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 20;
Spinal muscular atrophy, lower extremity-predominant 1, AD;
Mental retardation, autosomal dominant 13
EGR2 Charcot-Marie-Tooth disease, type 1D;
Dejerine-Sottas disease; Neuropathy, congenital hypomyelinating, 1
FGD4 Charcot-Marie-Tooth disease, type 4H
FIG4 Charcot-Marie-Tooth disease, type 4J;
Amyotrophic lateral sclerosis 11; Yunis-Varon syndrome;
Polymicrogyria, bilateral temporooccipital
GAN Giant axonal neuropathy-1
GARS1 Charcot-Marie-Tooth disease, type 2D;
Neuropathy, distal hereditary motor, type VA
GBA2 Spastic paraplegia 46, autosomal recessive
GBE1 Glycogen storage disease IV;
Polyglucosan body disease, adult form
GDAP1 Charcot-Marie-Tooth disease, axonal, type 2K;
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis;
Charcot-Marie-Tooth disease, recessive intermediate, A;
Charcot-Marie-Tooth disease, type 4A
GJB1 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1
GLA Fabry disease
GNB4 Charcot-Marie-Tooth disease, dominant intermediate F
HADHA Fatty liver, acute, of pregnancy;
HELLP syndrome, maternal, of pregnancy;
LCHAD deficiency;
Mitochondrial trifunctional protein deficiency
HADHB Trifunctional protein deficiency
HARS1 Charcot-Marie-Tooth disease, axonal, type 2W
HINT1 Neuromyotonia and axonal neuropathy, autosomal recessive
HK1 Neuropathy, hereditary motor and sensory, Russe type
HSPB1 Charcot-Marie-Tooth disease, axonal, type 2F;
Neuropathy, distal hereditary motor, type IIB
HSPB3 Neuronopathy, distal hereditary motor, type IIC
HSPB8 Charcot-Marie-Tooth disease, axonal, type 2L;
Neuropathy, distal hereditary motor, type IIA
IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2S;
Neuronopathy, distal hereditary motor, type VI
INF2 Charcot-Marie-Tooth disease, dominant intermediate E
KARS1 Charcot-Marie-Tooth disease, recessive intermediate, B
KIF1A Neuropathy, hereditary sensory, type IIC;
Spastic paraplegia 30, autosomal recessive;
Mental retardation, autosomal dominant 9
KIF5A Spastic paraplegia 10, autosomal dominant;
Myoclonus, intractable, neonatal;
Amyotrophic lateral sclerosis, susceptibility to, 25
KIF1B Charcot-Marie-Tooth disease, type 2A1;
LITAF Charcot-Marie-Tooth disease, type 1C
LMNA Charcot-Marie-Tooth disease, type 2B1;
Cardiomyopathy, dilated, 1A;Emery-Dreifuss muscular dystrophy 2, AD;
Emery-Dreifuss muscular dystrophy 3, AR;
Muscular dystrophy, congenital;
Muscular dystrophy, limb-girdle, type 1B
LRSAM1 Charcot-Marie-Tooth disease, axonal, type 2P
MARS1 Charcot-Marie-Tooth disease, axonal, type 2U
MCM3AP Peripheral neuropathy, autosomal recessive,
with or without impaired intellectual development
MED25 Charcot-Marie-Tooth disease, type 2B2
MFN2 Charcot-Marie-Tooth disease, axonal, type 2A2A;
Charcot-Marie-Tooth disease, axonal, type 2A2B;
Hereditary motor and sensory neuropathy VIA
MME Charcot-Marie-Tooth disease, axonal, type 2T;
Spinocerebellar ataxia 43
MORC2 Charcot-Marie-Tooth disease, axonal, type 2Z
MPZ Charcot-Marie-Tooth disease,
dominant intermediate D; Charcot-Marie-Tooth disease, type 1B;
Charcot-Marie-Tooth disease, type 2I;
Charcot-Marie-Tooth disease, type 2J;
Dejerine-Sottas disease;
Neuropathy, congenital hypomyelinating;
Roussy-Levy syndrome
MTMR2 Charcot-Marie-Tooth disease, type 4B1
NAGLU Charcot-Marie-Tooth disease, axonal, type 2V
NDRG1 Charcot-Marie-Tooth disease, type 4D
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC
NGF Neuropathy, hereditary sensory and autonomic, type V
NTRK1 Insensitivity to pain, congenital, with anhidrosis
PDK3 Charcot-Marie-Tooth disease, X-linked dominant, 6
PLEKHG5 Charcot-Marie-Tooth disease, recessive intermediate C;
Spinal muscular atrophy, distal, autosomal recessive, 4
PMP22 Charcot-Marie-Tooth disease, type 1A;
Charcot-Marie-Tooth disease, type 1E;
Neuropathy, recurrent, with pressure palsies;
Neuropathy, inflammatory demyelinating; Dejerine-Sottas disease;
Roussy-Levy syndrome
POLG Mitochondrial DNA depletion syndrome 4A;
Mitochondrial DNA depletion syndrome 4B;
Mitochondrial recessive ataxia syndrome;
Progressive external ophthalmoplegia, autosomal dominant 1;
Progressive external ophthalmoplegia, autosomal recessive 1
PPOX Variegate Porphyria
PRPS1 Charcot-Marie-Tooth disease, X-linked recessive, 5; Arts syndrome
PRX Charcot-Marie-Tooth disease, type 4F;
Dejerine-Sottas disease
RAB7A Charcot-Marie-Tooth disease, type 2B
REEP1 Neuronopathy, distal hereditary motor, type VB;
Spastic paraplegia 31, autosomal dominant
SBF1 Charcot-Marie-Tooth disease, type 4B3
SBF2 Charcot-Marie-Tooth disease, type 4B2
SCN4A Hyperkalemic periodic paralysis; Hypokalemic periodic paralysis, type 2;
Paramyotonia congenita of Von Eulenburg; Myotonia, potassium-aggravated;
Myasthenic syndrome, congenital, 16; Long QT syndrome 3
SCN9A Epilepsy, generalized, with febrile seizures plus, type 7;
Erythermalgia, primary; Febrile seizures, familial, 3B;
HSAN2D, autosomal recessive; Paroxysmal extreme pain disorder
SCN10A Episodic pain syndrome, familial, 2
SCN11A Neuropathy, hereditary sensory and autonomic, type 7;
Episodic pain syndrome, familial, 3
SEPT9 Amyotrophy, hereditary neuralgic
SETX Amyotrophic lateral sclerosis 4, juvenile;
Spinocerebellar ataxia, autosomal recessive 1
SH3TC2 Charcot-Marie-Tooth disease, type 4C;
Mononeuropathy of the median nerve, mild
SLC5A7 Neuronopathy, distal hereditary motor, type VIIA;
Myasthenic syndrome, congenital, 20, presynaptic
SLC52A1 Riboflavin deficiency
SLC52A2 Brown-Vialetto-Van Laere syndrome 2
SLC52A3 Brown-Vialetto-Van Laere syndrome 1
SORD Sorbitol dehydrogenase deficiency with peripheral neuropathy
SPTLC1 Neuropathy, hereditary sensory and autonomic, type IA
SPTLC2 Neuropathy, hereditary sensory and autonomic, type IC
SURF1 Charcot-Marie-Tooth disease, type 4K;
Leigh syndrome, due to COX IV deficiency
TFG Hereditary motor and sensory neuropathy, Okinawa type;
Spastic paraplegia 57, autosomal recessive
TRIM2 Charcot-Marie-Tooth disease, type 2R
TRPV4 Hereditary motor and sensory neuropathy, type IIc;
Digital arthropathy-brachydactyly, familial;
Metatropic dysplasia; Scapuloperoneal spinal muscular atrophy;
SED, Maroteaux type;
Spinal muscular atrophy, distal, congenital nonprogressive;
Spondylometaphyseal dysplasia, Kozlowski type
TTPA Ataxia with isolated vitamin E deficiency
TTR Amyloidosis, hereditary, transthyretin-related; Carpal tunnel syndrome; Hyperthyroxinemia, dystransthyretinemic
TYMP Mitochondrial DNA depletion syndrome 1
VCP Charcot-Marie-Tooth disease, type 2Y;
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
Inclusion body myopathy with early-onset Paget disease and
frontotemporal dementia 1
WARS1 Neuronopathy, distal hereditary motor, type IX
WNK1 Neuropathy, hereditary sensory and autonomic, type II
YARS1 Charcot-Marie-Tooth disease, dominant intermediate C