Genomics Precision Diagnostic > Neurology Precision Panel > Amyloidosis and Neuropathies Precision Panel

Amyloidosis and Neuropathies Precision Panel – 112 genes

Amyloidosis is the general term used to refer to the extracellular tissue deposition of fibrils composed of low molecular weight subunits of a variety of proteins – amyloid proteins. Many of these proteins are normal constituents of serum, but after undergoing conformational changes, their properties change, turning them into insoluble polymers.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Amyloidosis is the general term used to refer to the extracellular tissue deposition of fibrils composed of low molecular weight subunits of a variety of proteins – amyloid proteins. Many of these proteins are normal constituents of serum, but after undergoing conformational changes, their properties change, turning them into insoluble polymers. These polymers accumulate in different systems leading to a plethora of symptoms involving many organs. There are several major forms of amyloidosis depending on the protein which originates the subunit, being AL (Immunoglobulin Light Chain) and AA (Serum Amyloid A Protein) the main types. The predominant mode of inheritance is autosomal dominant. Neuropathy is a term that refers to a generalized and homogeneous process affecting many peripheral nerves, the distal nerves usually affected most prominently. It has a wide variety of causes, such as diabetes mellitus, alcohol abuse or Charcot-Marie-Tooth Disease. The most relevant manifestations are numbness or tingling in hands and feet, muscle weakness, pain hypersensitivity and loss of balance. The mode of inheritance varies from autosomal dominant to recessive.
The Igenomix Amyloidosis and Neuropathies Precision Panel can serve as an accurate and directed diagnostic tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Amyloidosis and Neuropathies Precision Panel is indicated for those patients with a clinical diagnosis or suspicion presenting with or without the following manifestations:
- Renal Disease: hematuria (blood in urine)
- Cardiomyopathy: chest pain, arrythmia, heart failure
- Gastrointestinal Disease: hepatomegaly, bleeding, malabsorption.
- Neurologic Abnormalities: dementia, cortical bleeding.
- Musculoskeletal Disease: pseudohypertrophy, macroglossia.
- Hematologic Abnormalities: anemia, thrombocytopenia.
- Pulmonary Disease: dysphagia, Sjögren’s syndrome.
- Skin Manifestations: subcutaneous nodules, waxy thickening.
- Pain Hypersensitivity

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of multidisciplinary treatment in the form of pharmacologic treatment to help reduce the production of insoluble polymers, or even surgical procedures to transplant the affected organ.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*AARS1*	Charcot-Marie- Tooth Disease, Epileptic Encephalopathy	AD,AR	99.07		30 of 30
*AGPAT2*	Berardinelli-Seip Congenital Lipodystrophy	AR	100		42 of 43
*AIFM1*	Combined Oxidative Phosphorylation Deficiency, Cowchock Syndrome, Deafness, Spondyloepimetaphyseal Dysplasia, Leukoencephalopathy, Charcot-Marie-Tooth Disease	X,XR,G	100		–
*APOA1*	Amyloidosis, Apolipoprotein A-I Deficiency	AD	99.89		68 of 70
*ASAH1*	Farber Lipogranulomatosis, Spinal Muscular Atrophy, Myoclonic Epilepsy	AR	99.98		69 of 70
*ATL1*	Neuropathy, Spastic Paraplegia	AD	100		93 of 93
*ATL3*	Neuropathy	AD	99.91		5 of 5
*ATP1A1*	Charcot-Marie-Tooth Disease, Hypomagnesemia, Seizures, Mental Retardation	AD	100		16 of 16
*ATP7A*	Cutis Laxa, Menkes Disease, Spinal Muscular Atrophy, Occipital Horn Syndrome	X,XR,G	99.83		–
*BAG3*	Cardiomyopathy, Myopathy	AD	100		83 of 85
*BICD2*	Spinal Muscular Atrophy	AD	99.94		39 of 39
*BSCL2*	Encephalopathy, Lipodystrophy, Neuronopathy, Spastic Paraplegia, Neurodegenerative Syndrome	AD,AR	99.83		60 of 61
*CHCHD10*	Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, Myopathy, Spinal Muscular Atrophy	AD	95.3		22 of 30
*COX6A1*	Charcot-Marie-Tooth Disease	AR	100		1 of 1
*CYP27A1*	Cerebrotendinous Xanthomatosis	AR	100		118 of 118
*CYP7B1*	Bile Acid Synthesis Defect, Spastic Paraplegia	AR	99.95		70 of 70
*DCTN1*	Amyotrophic Lateral Sclerosis, Neuronopathy, Parkinsonism, Alveolar Hypoventilation, Mental Depression, Perry Syndrome	AD,AR	100		56 of 56
*DHTKD1*	2-Aminoadipic 2-Oxoadipic Aciduria, Charcot-Marie- Tooth Disease	AD,AR	99.94		25 of 25
*DNAJB2*	Spinal Muscular Atrophy	AR	99.97		4 of 5
*DNM2*	Charcot-Marie-Tooth Disease, Lethal Congenital Contracture Syndrome, Myopathy	AD,AR	99		57 of 57
*DNMT1*	Cerebellar Ataxia, Deafness, Narcolepsy, Neuropathy, Autosomal Dominant Cerebellar Ataxia- Deafness-Narcolepsy Syndrome	AD	97.87		30 of 30
*DRP2*	Charcot-Marie-Tooth Disease, Neuronopathy, Neuropathy	–	99.98		–
*DST*	Epidermolysis Bullosa Simplex, Neuropathy	AR	99.08		19 of 19
*DYNC1H1*	Charcot-Marie-Tooth Disease, Spinal Muscular Atrophy, Intellectual Disability	AD	100		104 of 104
*EGR2*	Charcot-Marie-Tooth Disease, Hypertrophic Neuropathy Of Dejerine- Sottas	AD,AR	100		23 of 23
*ELP1*	Neuropathy, Familial Dysautonomia	AR	100		–
*EXOSC9*	Pontocerebellar Hypoplasia	AR	99.86		2 of 2
*FBLN5*	Cutis Laxa, Neuropathy	AD,AR	97.43		23 of 23
*FBXO38*	Neuronopathy	AD	99.87		6 of 6
*FGD4*	Charcot-Marie- Tooth Disease	AR	99.95		30 of 30
*FIG4*	Amyotrophic Lateral Sclerosis, Charcot-Marie- Tooth Disease, Cleidocranial Dysplasia, Micrognathia, Polymicrogyria, Yunis- Varon Syndrome	AD,AR	99.92		72 of 72
*GAN*	Giant Axonal Neuropathy	AR	100		75 of 75
*GARS1*	Charcot-Marie-Tooth Disease, Neuronopathy	AD	100		46 of 46
*GDAP1*	Charcot-Marie-Tooth Disease	AD,AR	100		106 of 106
*GJB1*	Charcot-Marie-Tooth Disease	X,XR,XD,G	100		–
*GLA*	Fabry Disease	X,XR,G	98		–
*GNB4*	Charcot-Marie-Tooth Disease	AD	100		5 of 5
*GSN*	Amyloidosis	AD	96.69		16 of 17
*HARS1*	Charcot-Marie-Tooth Disease, Usher Syndrome	AD,AR	100		–
*HEXA*	Tay-Sachs Disease	AR	100		205 of 206
*HINT1*	Neuromyotonia, Axonal Neuropathy	AR	99.94		19 of 19
*HK1*	Hemolytic Anemia, Neurodevelopmental Disorder, Visual Defects, Brain Anomalies, Neuropathy, Retinitis Pigmentosa, Charcot- Marie-Tooth Disease	AD,AR	100		14 of 17
*HMBS*	Porphyria	AD	100		469 of 479
*HSPB1*	Charcot-Marie-Tooth Disease, Neuronopathy	AD	99.96		45 of 46
*HSPB8*	Charcot-Marie-Tooth Disease, Neuronopathy	AD	97.59		9 of 9
*IGHMBP2*	Charcot-Marie-Tooth Disease, Spinal Muscular Atrophy	AR	99.94		141 of 142
*INF2*	Charcot-Marie-Tooth Disease, Glomerulosclerosis	AD	99.91		79 of 79
*JPH1*	Charcot-Marie-Tooth Disease	AD,AR	99.59		1 of 1
*KARS1*	Charcot-Marie-Tooth Disease, Deafness	AR	100		34 of 34
*KIF1A*	Mental Retardation, Neuropathy, Spastic Paraplegia, Peho Syndrome	AD,AR	100		76 of 76
*KIF1B*	Charcot-Marie-Tooth Disease, Neuroblastoma, Pheochromocytoma, Paraganglioma	AD	99.89		17 of 17
*KIF5A*	Amyotrophic Lateral Sclerosis, Myoclonus, Spastic Paraplegia	AD	100		85 of 85
*LITAF*	Charcot-Marie-Tooth Disease	AD	90.74		18 of 18
*LMNA*	Cardiomyopathy, Charcot- Marie-Tooth Disease, Emery-Dreifuss Muscular Dystrophy, Heart-Hand Syndrome, Hutchinson- Gilford Progeria Syndrome, Lipodystrophy, Malouf Syndrome, Mandibuloacral Dysplasia, Restrictive Dermopathy, Werner Syndrome, Hypergonadotropic Hypogonadism	AD,AR	100		619 of 620
*LRSAM1*	Charcot-Marie-Tooth Disease	AD,AR	100		18 of 18
*MARS1*	Charcot-Marie-Tooth Disease, Interstitial Lung And Liver Disease, Spastic Paraplegia	AD,AR	99.98		19 of 19
*MCM3AP*	Peripheral Neuropathy, Impaired Intellectual Development	AR	99.96		22 of 22
*MED25*	Basel-Vanagaite-Smirin- Yosef Syndrome, Charcot- Marie-Tooth Disease, Intellectual Disability, Cataract, Microcephaly	AR	100		5 of 5
*MFN2*	Charcot-Marie-Tooth Disease, Hereditary Motor And Sensory Neuropathy, Lipomatosis	AD,AR	100		233 of 233
*MME*	Charcot-Marie-Tooth Disease, Spinocerebellar Ataxia, Membranous Nephropathy	AD,AR	100		33 of 33
*MORC2*	Charcot-Marie-Tooth Disease	AD	100		20 of 20
*MPV17*	Charcot-Marie-Tooth Disease, Mitochondrial Dna Depletion Syndrome	AR	100		48 of 49
*MPZ*	Charcot-Marie-Tooth Disease, Hypertrophic Neuropathy Of Dejerine- Sottas, Neuropathy, Roussy-Levy Hereditary Areflexic Dystasia	AD,AR	99.98		245 of 245
*MTMR2*	Charcot-Marie-Tooth Disease	AR	100		34 of 34
*NAGLU*	Charcot-Marie-Tooth Disease, Mucopolysaccharidosis	AD,AR	93.23		194 of 222
*NDRG1*	Charcot-Marie-Tooth Disease	AR	100		11 of 11
*NEFH*	Amyotrophic Lateral Sclerosis, Charcot- Marie-Tooth Disease	AD,AR	97.5		28 of 31
*NEFL*	Charcot-Marie-Tooth Disease	AD,AR	–		–
*NGF*	Neuropathy	AR	100		5 of 5
*NTRK1*	Insensitivity To Pain, Neuropathy	AR	100		128 of 130
*PDK3*	Charcot-Marie-Tooth Disease	X,XD,G	99.7		–
*PLEKHG5*	Charcot-Marie-Tooth Disease, Spinal Muscular Atrophy	AR	99.98		14 of 14
*PMP2*	Charcot-Marie-Tooth Disease	AD	99.74		5 of 5
*PMP22*	Charcot-Marie-Tooth Disease, Deafness, Hypertrophic Neuropathy Of Dejerine-Sottas, Neuropathy, Roussy- Levy Hereditary Areflexic Dystasia, Demyelinating Polyradiculoneuropathy	AD,AR	97.82		110 of 110
*PNKP*	Ataxia-Oculomotor Apraxia, Charcot-Marie- Tooth Disease, Epileptic Encephalopathy	AR	100		36 of 36
*POLG*	Mitochondrial Dna Depletion Syndrome, External Ophthalmoplegia, Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis, Alpers-Huttenlocher Syndrome, Neurogastrointestinal Encephalomyopathy	AD,AR	99.92		325 of 326
*POLG2*	Mitochondrial Dna Depletion Syndrome, External Ophthalmoplegia	AD,AR	99.97		13 of 13
*PRDM12*	Neuropathy	AR	88.85		9 of 10
*PRPS1*	Arts Syndrome, Charcot- Marie-Tooth Disease, Deafness, Phosphoribosylpyrophosphate Synthetase Superactivity, Lethal Ataxia, Optic Atrophy, Intellectual Disability, Limb Spasticity, Retinal Dystrophy	X,XR,G	100		–
*PRX*	Charcot-Marie-Tooth Disease, Hypertrophic Neuropathy Of Dejerine- Sottas	AD,AR	100		59 of 59
*RAB7A*	Charcot-Marie-Tooth Disease	AD	100		7 of 7
*REEP1*	Neuronopathy, Spastic Paraplegia, Distal Hereditary Motor Neuropathy	AD	100		62 of 62
*RETREG1*	Neuropathy	AR	99.94		–
*SBF1*	Charcot-Marie-Tooth Disease	AR	99.94		19 of 19
*SBF2*	Charcot-Marie-Tooth Disease	AR	99.98		44 of 44
*SCN11A*	Neuropathy, Paroxysmal Extreme Pain Disorder, Primary Erythromelalgia	AD	99.8		21 of 23
*SCN9A*	Erythermalgia, Epilepsy, Indifference To Pain, Neuropathy, Extreme Pain Disorder, Dravet Syndrome	AD,AR	96.25		126 of 137
*SCO2*	Cardioencephalomyopathy , Myopia, Charcot-Marie- Tooth Disease, Leigh Syndrome	AD,AR	100		38 of 38
*SEPTIN9*	Neuralgic Amyotrophy	AD	86.94		4 of 4
*SH3TC2*	Charcot-Marie-Tooth Disease, Mononeuropathy Of The Median Nerve	AD,AR	99.95		114 of 114
*SIGMAR1*	Amyotrophic Lateral Sclerosis, Spinal Muscular Atrophy	AR	100		20 of 20
*SLC12A6*	Neuropathy, Corpus Callosum Agenesis	AR	100		21 of 21
*SLC25A46*	Neuropathy	AR	99.79		16 of 17
*SLC52A2*	Brown-Vialetto-Van Laere Syndrome, Spinocerebellar Ataxia, Blindness, Deafness	AR	100		31 of 32
*SLC52A3*	Bulbar Palsy	AR	100		43 of 43
*SLC5A7*	Myasthenic Syndrome, Neuronopathy	AD,AR	99.92		21 of 21
*SMN1*	Spinal Muscular Atrophy	AR	5.2		17 of 91
*SPG11*	Amyotrophic Lateral Sclerosis, Charcot-Marie-Tooth Disease, Spastic Paraplegia	AR	99.93		289 of 297
*SPICE1*	Microcephaly	–	99.73		–
*SPTLC1*	Neuropathy	AD	99.81		12 of 12
*SPTLC2*	Neuropathy	AD	100		18 of 18
*SURF1*	Charcot-Marie-Tooth Disease, Leigh Syndrome, Cardiomyopathy, Leukodystrophy	AR,MI	98.59		117 of 124
*TFG*	Hereditary Motor And Sensory Neuropathy, Spastic Paraplegia	AD,AR	99.67		9 of 9
*TRIM2*	Charcot-Marie-Tooth Disease	AR	97.87		8 of 8
*TRPV4*	Avascular Necrosis Of Femoral Head, Brachyrachia, Digital Arthropathy, Brachydactyly, Sensory Neuropathy, Parastremmatic Dwarfism, Spinal Muscular Atrophy, Spondyloepiphyseal Dysplasia, Brachyolmia	AD	100		88 of 88
*TTR*	Carpal Tunnel Syndrome, Amyloidosis	AD	100		195 of 196
*UBA1*	Spinal Muscular Atrophy	X,XR,G	99.58		–
*VAPB*	Amyotrophic Lateral Sclerosis, Spinal Muscular Atrophy	AD	100		9 of 9
*VCP*	Amyotrophic Lateral Sclerosis, Charcot-Marie- Tooth Disease, Inclusion Body Myopathy, Frontotemporal Dementia, Paget Disease Of Bone, Aphasia, Spastic Paraplegia	AD	100		68 of 69
*VRK1*	Pontocerebellar Hypoplasia	AR	99.64		15 of 15
*WNK1*	Neuropathy, Pseudohypoaldosteronism	AD,AR	99.45		44 of 50
*YARS1*	Charcot-Marie-Tooth Disease	AD	100		15 of 15

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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