List of diseases covered by
Charcot-Marie-Tooth Disease NGS panel
CACNA1SHYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5;
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1KCNJ2CANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; SHORT QT SYNDROME 3; ATRIAL FIBRILLATION, FAMILIAL, 9
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1KCNJ2CANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; SHORT QT SYNDROME 3; ATRIAL FIBRILLATION, FAMILIAL, 9
| 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 |