XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Demyelinating peripheral neuropathy

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACO222q13.2100%gene with protein product100850Areflexia; Ataxia; Athetosis; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral cortical atrophy; Demyelinating peripheral neuropathy; Failure to thrive; Generalized hypotonia; Hypoplasia of the corpus callosum; Hyporeflexia; Infantile onset; Intellectual disability, severe; Nystagmus; Optic atrophy; Paracentral scotoma; Progressive microcephaly; Red-green dyschromatopsia; Reduced visual acuity; Retinal dystrophy; Seizures; Severe global developmental delay; Strabismus; Visual impairment
BAG310q26.11100%gene with protein product603883Autosomal dominant inheritance; Axonal loss; Congestive heart failure; Demyelinating peripheral neuropathy; Diaphragmatic paralysis; Dilated cardiomyopathy; Distal sensory impairment; Easy fatigability; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Facial palsy; Generalized amyotrophy; Hypertrophic cardiomyopathy; Hyporeflexia; Knee flexion contracture; Muscular dystrophy; Myofibrillar myopathy; Nasal speech; Pes cavus; Rapidly progressive; Respiratory insufficiency; Scoliosis; Spinal rigidityRhabdomyolysis
ERCC219q13.32100%gene with protein product126340XPDAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Abnormality of the thorax; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Asthma; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Brittle hair; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Chronic diarrhea; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed speech and language development; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Ectropion; EEG abnormality; Entropion; Erythema; Erythroderma; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Fine hair; Flexion contracture; Fragile nails; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Hyporeflexia; IgG deficiency; Intellectual disability; Intellectual disability, progressive; Intestinal obstruction; Intrauterine growth retardation; Joint stiffness; Keratitis; Kyphoscoliosis; Lack of subcutaneous fatty tissue; Large beaked nose; Malabsorption; Melanoma; Mental deterioration; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Nail dystrophy; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Recurrent infections; Reduced tendon reflexes; Retinopathy; Retrognathia; Rocker bottom foot; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Small for gestational age; Small nail; Sparse hair; Spasticity; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin; Trichorrhexis nodosa; Urticaria; Visual impairment; Wide nasal bridgeEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC32q14.3100%gene with protein product133510Abnormal CNS myelination; Abnormality of amino acid metabolism; Abnormality of the dentition; Arteriosclerosis; Arthralgia; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Basal ganglia calcification; Brittle hair; Cachexia; Cataract; Cerebellar atrophy; Coarse hair; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous melanoma; Cutaneous photosensitivity; Decreased fertility; Decreased nerve conduction velocity; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hyperreflexia; Hypogonadism; Hypopigmented skin patches; Increased cellular sensitivity to UV light; Intellectual disability; Intellectual disability, progressive; Keratitis; Melanoma; Microcephaly; Microphthalmia; Neoplasm; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Pigmentary retinopathy; Poikiloderma; Prematurely aged appearance; Progeroid facial appearance; Retinopathy; Sensorineural hearing impairment; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Tiger tail banding; Urticaria; VentriculomegalyEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC416p13.12100%gene with protein product133520XPF, FANCQAbnormality of amino acid metabolism; Abnormality of chromosome stability; Abnormality of the dentition; Absent thumb; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Arteriosclerosis; Arthralgia; Ascites; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Biliary atresia; Bone marrow hypocellularity; Cachexia; Cataract; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Elevated hepatic transaminases; Erythema; Esophageal atresia; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; High pitched voice; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertension; Hypogonadism; Hypopigmented skin patches; Hypoplasia of dental enamel; Infantile onset; Intellectual disability; Intellectual disability, mild; Intellectual disability, progressive; Irregular hyperpigmentation; Keratitis; Lack of subcutaneous fatty tissue; Leukopenia; Low-set ears; Melanoma; Microcephaly; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Papule; Phenotypic variability; Poikiloderma; Poor coordination; Prematurely aged appearance; Pyridoxine-responsive sideroblastic anemia; Retinopathy; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short palpebral fissure; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Thrombocytopenia; Tracheoesophageal fistula; Urticaria; Visual impairmentAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
ERCC513q33.1100%gene with protein product133530ERCM2, XPGCAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in infancy; Decreased fetal movement; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Edema; EEG abnormality; Erythema; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Intellectual disability; Intellectual disability, progressive; Intrauterine growth retardation; Joint stiffness; Keratitis; Low-set ears; Melanoma; Microcephaly; Micrognathia; Microphthalmia; Muscular hypotonia; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Reduced tendon reflexes; Retinopathy; Rocker bottom foot; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Talipes equinovarus; Telangiectasia of the skin; Thin skin; Urticaria; Variable expressivity; Visual impairment; Wide nasal bridge
POLG15q26.1100%gene with protein productVariants in the POLG gene that have a possible association with valproate-induced toxicity are not routinely reported by this test, but are available upon request.1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
RRM2B8q22.399.95%gene with protein product604712Abdominal distention; Abdominal pain; Abnormality of retinal pigmentation; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Aminoaciduria; Anterior hypopituitarism; Ataxia; Atrophic muscularis propria; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Demyelinating peripheral neuropathy; Depressivity; Diarrhea; Distal muscle weakness; Dysarthria; Dysphagia; Easy fatigability; Elevated hepatic transaminases; EMG abnormality; Exercise intolerance; External ophthalmoplegia; Failure to thrive; Feeding difficulties; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Hearing impairment; Hyperalaninemia; Increased CSF protein; Increased muscle fatiguability; Intellectual disability; Lactic acidosis; Leukoencephalopathy; Multiple mitochondrial DNA deletions; Muscular hypotonia; Nausea; Paresthesia; Peripheral axonal neuropathy; Poor appetite; Progressive; Progressive external ophthalmoplegia; Progressive intervertebral space narrowing; Progressive neurologic deterioration; Proximal tubulopathy; Ptosis; Ragged-red muscle fibers; Reduced tendon reflexes; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Skeletal muscle atrophy; Small intestinal dysmotility; Third degree atrioventricular block; VomitingRhabdomyolysis
SOX1022q13.199.98%gene with protein product602229Abdominal pain; Abnormal eyebrow morphology; Abnormal macular morphology; Abnormal pyramidal signs; Abnormality of the voice; Abnormality of vision; Absent brainstem auditory responses; Aganglionic megacolon; Alacrima; Anosmia; Anterior hypopituitarism; Aplasia of the semicircular canal; Areflexia; Ataxia; Autonomic dysregulation; Autosomal dominant inheritance; Blue irides; Breast hypoplasia; Cafe-au-lait spot; Cerebral dysmyelination; Cerebral hypomyelination; Constipation; Cryptorchidism; Decreased fertility; Decreased lacrimation; Decreased nerve conduction velocity; Decreased testicular size; Delayed puberty; Demyelinating peripheral neuropathy; Dilated vestibule of the inner ear; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysmyelinating leukodystrophy; Erectile abnormalities; Global developmental delay; Hearing impairment; Heterochromia iridis; Heterogeneous; Hypertonia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypopigmentation of hair; Hypopigmentation of the fundus; Hypopigmented skin patches; Hypoplasia of the iris; Hypoplasia of the semicircular canal; Hyporeflexia; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Ileus; Intellectual disability; Intestinal obstruction; Long-segment aganglionic megacolon; Microcolon; Micropenis; Muscular hypotonia; Muscular hypotonia of the trunk; Myelin outfoldings; Neonatal hypotonia; Nystagmus; Olfactory lobe agenesis; Pectus excavatum; Peripheral demyelination; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Phenotypic variability; Premature graying of hair; Prominent nasal bridge; Reduced bone mineral density; Seizures; Sensorineural hearing impairment; Spastic paraparesis; Spastic tetraplegia; Spasticity; Synophrys; Telecanthus; Underdeveloped nasal alae; White eyebrow; White eyelashes; White forelock; Wide nasal bridgeWaardenburg Syndrome
TYMP22q13.33100%gene with protein product131222MNGIE, ECGF1Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Areflexia; Atrophic muscularis propria; Autosomal recessive inheritance; Cachexia; Constipation; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Demyelinating peripheral neuropathy; Diarrhea; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysphagia; Easy fatigability; Elevated hepatic transaminases; External ophthalmoplegia; Foot dorsiflexor weakness; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Hyperalaninemia; Hypointensity of cerebral white matter on MRI; Increased CSF protein; Intermittent diarrhea; Lactic acidosis; Leukoencephalopathy; Malabsorption; Malnutrition; Mitochondrial myopathy; Multiple mitochondrial DNA deletions; Nausea; Paresthesia; Peripheral axonal neuropathy; Poor appetite; Progressive; Progressive external ophthalmoplegia; Ptosis; Ragged-red muscle fibers; Sensorimotor neuropathy; Sensorineural hearing impairment; Small intestinal dysmotility; Subsarcolemmal accumulations of abnormally shaped mitochondria; Vomiting


The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome