XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

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You may also use this search to review average exome sequencing coverage by entering the gene symbol below.

SELECTED GENES FOR YOUR SLICE

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Phenotypes
Peripheral demyelination

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCA19q31.1100%gene with protein product600046ABC1, HDLDT1Abdominal pain; Abnormality of the liver; Accelerated atherosclerosis; Anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Blurred vision; Chronic noninfectious lymphadenopathy; Corneal opacity; Coronary artery atherosclerosis; Coronary artery stenosis; Decreased circulating high-density lipoprotein levels; Distal amyotrophy; Distal muscle weakness; Dry skin; Ectropion; EMG abnormality; Facial diplegia; Hemiplegia/hemiparesis; Hepatomegaly; Hepatosplenomegaly; Hypertriglyceridemia; Hypocholesterolemia; Hyporeflexia; Impaired pain sensation; Impaired temperature sensation; Left ventricular hypertrophy; Lymphadenopathy; Myocardial infarction; Nail dysplasia; Nail dystrophy; Opacification of the corneal stroma; Orange discoloured tonsils; Peripheral axonal neuropathy; Peripheral demyelination; Progressive peripheral neuropathy; Splenomegaly; Visual impairment; XanthomatosisPalmoplantar keratoderma plus congenital ichthyosis
ARHGEF108p23.3100%gene with protein product608136Adult onset; Autosomal dominant inheritance; Decreased nerve conduction velocity; Onion bulb formation; Peripheral demyelination
ARSA22q13.33100%gene with protein product607574Abnormality of the cerebral white matter; Ataxia; Autosomal recessive inheritance; Babinski sign; Bulbar palsy; Cholecystitis; Chorea; Decreased nerve conduction velocity; Delusions; Dysarthria; Dystonia; EMG: neuropathic changes; Emotional lability; Gait disturbance; Gallbladder dysfunction; Generalized hypotonia; Hallucinations; Hyperreflexia; Hyporeflexia; Increased CSF protein; Intellectual disability; Loss of speech; Mental deterioration; Optic atrophy; Peripheral demyelination; Progressive peripheral neuropathy; Seizures; Spastic tetraplegia; Tetraplegia; Urinary incontinence
COQ716p12.3100%gene with protein product601683Abnormal renal corticomedullary differentiation; Autosomal recessive inheritance; Congenital onset; Elevated serum creatinine; Feeding difficulties; Flexion contracture; Generalized hypotonia; Global developmental delay; Hearing impairment; Intrauterine growth retardation; Motor delay; Muscle weakness; Muscular hypotonia; Oligohydramnios; Pain; Peripheral demyelination; Polyneuropathy; Postnatal growth retardation; Pulmonary hypoplasia; Renal dysplasia; Respiratory distress; Small for gestational age; Visual impairment
CTDP118q23100%gene with protein product604927Abnormal facial shape; Abnormality of peripheral nerve conduction; Abnormality of the cervical spine; Abnormality of the dentition; Acute rhabdomyolysis; Ataxia; Autosomal recessive inheritance; Babinski sign; Camptodactyly of finger; Cataract; Cerebral atrophy; Cerebral cortical atrophy; Chorea; Cognitive impairment; Congenital cataract; Decreased motor nerve conduction velocity; Decreased serum estradiol; Dysmetria; Genu recurvatum; Global developmental delay; Hypergonadotropic hypogonadism; Hypoglycemia; Hypogonadotrophic hypogonadism; Infantile onset; Intellectual disability; Intellectual disability, mild; Intention tremor; Intrauterine growth retardation; Kyphoscoliosis; Long eyelashes; Malar prominence; Microcornea; Micrognathia; Microphthalmia; Motor axonal neuropathy; Motor delay; Motor polyneuropathy; Nystagmus; Osteoporosis; Paresthesia; Peripheral axonal degeneration; Peripheral demyelination; Peripheral hypomyelination; Pes cavus; Short stature; Split hand; Strabismus; Talipes equinovarusRhabdomyolysis
FGD412p11.2199.97%gene with protein product611104Areflexia; Autosomal recessive inheritance; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal lower limb amyotrophy; Distal lower limb muscle weakness; Distal sensory impairment; Heterogeneous; Hyporeflexia; Infantile onset; Motor delay; Onion bulb formation; Peripheral demyelination; Pes cavus; Scoliosis; Talipes equinovarus; Upper limb muscle weakness; Waddling gait
GALC14q31.399.98%gene with protein product606890Abnormal flash visual evoked potentials; Autoimmune thrombocytopenia; Autosomal recessive inheritance; Blindness; CNS demyelination; Decerebrate rigidity; Decreased nerve conduction velocity; Developmental regression; Diffuse cerebral atrophy; EEG abnormality; Episodic fever; Failure to thrive; Hearing impairment; Hydrocephalus; Hyperactive deep tendon reflexes; Hypertonia; Increased CSF protein; Motor deterioration; Muscular hypotonia; Neurodegeneration; Nystagmus; Optic atrophy; Peripheral demyelination; Progressive spasticity; Seizures; Sensorimotor neuropathy; Vomiting
GDAP18q21.1199.97%gene with protein product606598CMT4AAreflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal degeneration/regeneration; Axonal regeneration; Childhood onset; CNS hypomyelination; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; EMG: neuropathic changes; Flexion contracture; Foot dorsiflexor weakness; Hammertoe; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Inability to walk by childhood/adolescence; Infantile onset; Kyphoscoliosis; Limb muscle weakness; Motor delay; Neonatal onset; Onion bulb formation; Peripheral axonal degeneration; Peripheral demyelination; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Proximal muscle weakness; Rapidly progressive; Scoliosis; Spinal deformities; Split hand; Steppage gait; Talipes equinovarus; Ulnar claw; Vocal cord paresis
KIF1C17p13.2100%gene with protein product603060SAX2Abnormality of the cerebral white matter; Autosomal recessive inheritance; Babinski sign; Chorea; Clonus; Distal amyotrophy; Dysarthria; Dysmetria; Erratic myoclonus; Fasciculations; Frequent falls; Gait ataxia; Head titubation; Horizontal nystagmus; Hyperreflexia; Hypodontia; Lower limb hyperreflexia; Microcephaly; Peripheral demyelination; Progressive; Short stature; Spastic ataxia; Spasticity; Titubation
LRPPRC2p2199.97%gene with protein product607544LSFCAnteverted nares; Ataxia; Autosomal recessive inheritance; CNS demyelination; Delayed speech and language development; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Highly arched eyebrow; Hirsutism; Hyperglycemia; Hypertelorism; Hypoglycemia; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased serum lactate; Infantile onset; Lactic acidosis; Low anterior hairline; Malar flattening; Microvesicular hepatic steatosis; Midface retrusion; Peripheral demyelination; Prominent forehead; Strabismus; Tachypnea; Tremor; Wide nasal bridge
MAT1A10q22.3100%gene with protein product610550Autosomal dominant inheritance; Autosomal recessive inheritance; CNS demyelination; Dystonia; Hypermethioninemia; Hyperreflexia; Peripheral demyelination
MOCS16p21.2100%gene with protein product603707Absent urinary urothione; Aldehyde oxidase deficiency; Autosomal recessive inheritance; Axonal loss; Cerebral atrophy; Decreased urinary sulfate; Decreased urinary urate; Ectopia lentis; Feeding difficulties in infancy; Frontal bossing; Full cheeks; Gliosis; Growth delay; Hypertelorism; Hypoplasia of the corpus callosum; Hypouricemia; Increased urinary hypoxanthine; Increased urinary sulfite; Increased urinary taurine; Increased urinary thiosulfate; Intellectual disability; Long face; Long philtrum; Macrocephaly; Microcephaly; Molybdenum cofactor deficiency; Myoclonic spasms; Nystagmus; Opisthotonus; Peripheral demyelination; Progressive; Reduced xanthine dehydrogenase activity; Seizures; Short nose; Spastic tetraparesis; Spastic tetraplegia; Sulfite oxidase deficiency; Thick vermilion border; Ventriculomegaly; Xanthine nephrolithiasis; Xanthinuria
MOCS25q11.2100%gene with protein product603708Autosomal recessive inheritance; Axonal loss; Cerebral atrophy; Ectopia lentis; Feeding difficulties; Frontal bossing; Full cheeks; Gliosis; Growth delay; Hypertelorism; Hypoplasia of the corpus callosum; Hypouricemia; Increased urinary hypoxanthine; Increased urinary taurine; Long face; Long philtrum; Macrocephaly; Microcephaly; Molybdenum cofactor deficiency; Myoclonic spasms; Nystagmus; Opisthotonus; Peripheral demyelination; Progressive; Short nose; Spastic tetraplegia; Thick vermilion border; Ventriculomegaly; Xanthine nephrolithiasis; Xanthinuria
MPZ1q23.3100%gene with protein product159440CMT1, CMT1BAbnormality of the cranial nerves; Abnormality of the eye; Abnormality of the immune system; Abnormality of the respiratory system; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal degeneration/regeneration; Cold-induced muscle cramps; Congenital onset; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysphagia; Foot dorsiflexor weakness; Gait ataxia; Gait disturbance; Generalized hypotonia; Hammertoe; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Increased CSF protein; Infantile onset; Insidious onset; Juvenile onset; Kyphoscoliosis; Motor delay; Myelin outfoldings; Neonatal hypotonia; Onion bulb formation; Peripheral demyelination; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Progressive sensorineural hearing impairment; Segmental peripheral demyelination/remyelination; Sensorineural hearing impairment; Sensory ataxia; Slow progression; Split hand; Steppage gait; Tonic pupil; Ulnar claw; Upper limb muscle weakness; Upper limb postural tremor; Variable expressivity
MPZ1q23.3100%gene with protein product159440CMT1, CMT1BAbnormality of the cranial nerves; Abnormality of the eye; Abnormality of the immune system; Abnormality of the respiratory system; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal degeneration/regeneration; Cold-induced muscle cramps; Congenital onset; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysphagia; Foot dorsiflexor weakness; Gait ataxia; Gait disturbance; Generalized hypotonia; Hammertoe; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Increased CSF protein; Infantile onset; Insidious onset; Juvenile onset; Kyphoscoliosis; Motor delay; Myelin outfoldings; Neonatal hypotonia; Onion bulb formation; Peripheral demyelination; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Progressive sensorineural hearing impairment; Segmental peripheral demyelination/remyelination; Sensorineural hearing impairment; Sensory ataxia; Slow progression; Split hand; Steppage gait; Tonic pupil; Ulnar claw; Upper limb muscle weakness; Upper limb postural tremor; Variable expressivity
MTTP4q2399.99%gene with protein product157147MTPAbetalipoproteinemia; Abnormality of movement; Abnormality of retinal pigmentation; Acanthocytosis; Ataxia; Autosomal recessive inheritance; CNS demyelination; Fat malabsorption; Malabsorption; Muscular hypotonia; Peripheral demyelination; Reduced tendon reflexes; Retinal degeneration; Retinopathy
PRX19q13.299.98%gene with protein product605725Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased number of peripheral myelinated nerve fibers; Difficulty walking; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Foot dorsiflexor weakness; Generalized hypotonia; Hammertoe; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Increased CSF protein; Infantile onset; Kyphoscoliosis; Limb muscle weakness; Motor delay; Onion bulb formation; Peripheral demyelination; Pes cavus; Scoliosis; Segmental peripheral demyelination/remyelination; Sensory ataxia; Skeletal muscle atrophy; Slow progression; Split hand; Steppage gait; Ulnar claw; Variable expressivity
PSAP10q22.199.99%gene with protein product176801SAP1, GLBAAbnormality of eye movement; Abnormality of glycosphingolipid metabolism; Abnormality of the periventricular white matter; Anemia; Autosomal recessive inheritance; Babinski sign; Central apnea; Cerebral dysmyelination; CNS demyelination; Congenital onset; Death in childhood; Death in infancy; Decreased nerve conduction velocity; Developmental regression; Dysarthria; Dysphagia; Dystonia; Erlenmeyer flask deformity of the femurs; Fasciculations; Feeding difficulties; Gait ataxia; Generalized clonic seizures; Generalized hypotonia; Generalized tonic-clonic seizures; Global brain atrophy; Global developmental delay; Hepatomegaly; Hepatosplenomegaly; Hyperkinesis; Hyperreflexia; Hypertonia; Hypoplasia of the corpus callosum; Hyporeflexia; Increased cerebral lipofuscin; Increased CSF protein; Infantile onset; Loss of speech; Mental deterioration; Muscle weakness; Muscular hypotonia; Myoclonus; Neuronal loss in central nervous system; Osteopenia; Peripheral demyelination; Polyneuropathy; Recurrent respiratory infections; Respiratory failure; Respiratory insufficiency; Seizures; Spastic tetraparesis; Splenomegaly; Thrombocytopenia; Urinary incontinence; Variable expressivity
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
SUMF13p26.1100%gene with protein product607939Abnormality of peripheral nerve conduction; Abnormality of retinal pigmentation; Abnormality of the periventricular white matter; Anteverted nares; Ataxia; Autosomal recessive inheritance; Broad hallux; Broad hallux phalanx; Broad thumb; Cataract; Cerebellar atrophy; Cerebral atrophy; CNS demyelination; Coarse facial features; Coarse hair; Corneal opacity; Depressed nasal bridge; Developmental regression; Dysostosis multiplex; Flat face; Global developmental delay; Hearing impairment; Hepatomegaly; Hydrocephalus; Hypoplastic vertebral bodies; Ichthyosis; Increased CSF protein; Intellectual disability; Joint stiffness; Large forehead; Lower limb hyperreflexia; Macrocephaly; Mucopolysacchariduria; Neonatal hypotonia; Optic atrophy; Periorbital edema; Peripheral demyelination; Prominent forehead; Rapid neurologic deterioration; Retinal degeneration; Seizures; Sensorineural hearing impairment; Short stature; Smooth philtrum; Spasticity; Splenomegaly; Thick eyebrow; Ventriculomegaly; Visual impairment
SURF19q34.299.74%gene with protein product185620Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; Axonal loss; CNS demyelination; Difficulty walking; Dysarthria; Dystonia; Easy fatigability; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Horizontal nystagmus; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Kyphoscoliosis; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Peripheral demyelination; Peripheral neuropathy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Slow progression; Spasticity; Strabismus; Variable expressivity
TREM26p21.1100%gene with protein product605086Abnormal adipose tissue morphology; Abnormal brain FDG positron emission tomography; Abnormal social behavior; Abnormal upper motor neuron morphology; Abnormality of epiphysis morphology; Abnormality of the cerebral white matter; Abnormality of the foot; Abnormality of the hand; Aggressive behavior; Agitation; Agnosia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apraxia; Arthralgia; Autosomal recessive inheritance; Axonal loss; Babinski sign; Basal ganglia calcification; Bone cyst; Bone pain; Caudate atrophy; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Chorea; Collectionism; Confusion; Deposits immunoreactive to beta-amyloid protein; Depressivity; Developmental regression; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Echolalia; EEG abnormality; EEG with continuous slow activity; Emotional blunting; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal lobe dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Generalized muscle weakness; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Hypertonia; Hypoplasia of the corpus callosum; Inappropriate behavior; Irritability; Lack of insight; Language impairment; Leukoencephalopathy; Limitation of joint mobility; Loss of speech; Memory impairment; Muscle cramps; Myoclonus; Neurodegeneration; Neurofibrillary tangles; Neurological speech impairment; Oculomotor apraxia; Pain; Paralysis; Parkinsonism; Pathologic fracture; Peripheral demyelination; Perseveration; Personality changes; Poor speech; Primitive reflex; Reduced bone mineral density; Respiratory failure; Restlessness; Restrictive behavior; Seizures; Skeletal dysplasia; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Urinary incontinence; Ventriculomegaly; Xerostomia
TYROBP19q13.12100%gene with protein product604142PLOSLAbnormal adipose tissue morphology; Abnormal upper motor neuron morphology; Abnormality of epiphysis morphology; Abnormality of the foot; Abnormality of the hand; Aggressive behavior; Agnosia; Apraxia; Arthralgia; Autosomal recessive inheritance; Axonal loss; Babinski sign; Basal ganglia calcification; Bone cyst; Bone pain; Caudate atrophy; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Chorea; Developmental regression; Disinhibition; EEG abnormality; Frontal lobe dementia; Gait disturbance; Gliosis; Hypoplasia of the corpus callosum; Irritability; Lack of insight; Leukoencephalopathy; Limitation of joint mobility; Memory impairment; Myoclonus; Neurological speech impairment; Oculomotor apraxia; Pathologic fracture; Peripheral demyelination; Personality changes; Primitive reflex; Reduced bone mineral density; Seizures; Skeletal dysplasia; Spasticity; Urinary incontinence; Ventriculomegaly


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