XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

ENTER GENES BELOW AND CLICK "ADD GENES TO SLICE"

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SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

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
Segmental peripheral demyelination/remyelination

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
DNM219p13.2100%gene with protein product602378Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal degeneration; Centrally nucleated skeletal muscle fibers; Congenital contracture; Congenital onset; Death in infancy; Decreased fetal movement; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Easy fatigability; Elevated serum creatine phosphokinase; External ophthalmoplegia; Facial palsy; Flexion contracture; Generalized hypotonia; Heterogeneous; Hyporeflexia; Juvenile onset; Motor delay; Onion bulb formation; Pes cavus; Polyhydramnios; Proximal muscle weakness; Ptosis; Respiratory insufficiency; Retinal hemorrhage; Segmental peripheral demyelination/remyelination; Sleepy facial expression; Slow progression; Small for gestational age; Thin ribs
EGR210q21.3100%gene with protein product129010KROX20Abnormality of the cranial nerves; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital onset; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Foot dorsiflexor weakness; Generalized hypotonia; Hammertoe; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Increased CSF protein; Infantile onset; Juvenile onset; Kyphoscoliosis; Motor delay; Neonatal hypotonia; Onion bulb formation; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Segmental peripheral demyelination/remyelination; Sensory ataxia; Split hand; Steppage gait; Ulnar claw; Upper limb muscle weakness; Variable expressivity
LITAF16p13.13100%gene with protein product603795Autosomal dominant inheritance; Decreased motor nerve conduction velocity; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Juvenile onset; Onion bulb formation; Pes cavus; Segmental peripheral demyelination/remyelination
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
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
NDRG18q24.22100%gene with protein product605262CAP43Abnormal auditory evoked potentials; Abnormality of the hand; Abnormality of visual evoked potentials; Areflexia; Autosomal recessive inheritance; Axonal loss; Decreased nerve conduction velocity; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Gait disturbance; Hearing impairment; Hyporeflexia; Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material; Juvenile onset; Onion bulb formation; Segmental peripheral demyelination/remyelination; Talipes cavus equinovarus
NEFL8p21.2100%gene with protein product162280Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Clusters of axonal regeneration; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Flexion contracture; Foot dorsiflexor weakness; Hammertoe; Heterogeneous; Hyporeflexia; Hypotrophy of the small hand muscles; Juvenile onset; Motor delay; Myelin outfoldings; Onion bulb formation; Pes cavus; Segmental peripheral demyelination/remyelination; Split hand; Steppage gait; Ulnar claw; Variable expressivity
PMP2217p12100%gene with protein product601097Abnormality of the immune system; Acute demyelinating polyneuropathy; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Childhood onset; Cold-induced muscle cramps; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Foot dorsiflexor weakness; Gait ataxia; Gait disturbance; Generalized hypotonia; Hammertoe; Hearing impairment; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Increased CSF protein; Infantile onset; Insidious onset; Juvenile onset; Kyphoscoliosis; Motor delay; Muscle weakness; Myelin outfoldings; Onion bulb formation; Paresthesia; Pes cavus; Scoliosis; Segmental peripheral demyelination/remyelination; Sensorineural hearing impairment; Sensory ataxia; Slow progression; Split hand; Steppage gait; Talipes calcaneovalgus; Ulnar claw; Upper limb postural tremor; Variable expressivity; Vocal cord paralysis
PMP2217p12100%gene with protein product601097Abnormality of the immune system; Acute demyelinating polyneuropathy; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Childhood onset; Cold-induced muscle cramps; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Foot dorsiflexor weakness; Gait ataxia; Gait disturbance; Generalized hypotonia; Hammertoe; Hearing impairment; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Increased CSF protein; Infantile onset; Insidious onset; Juvenile onset; Kyphoscoliosis; Motor delay; Muscle weakness; Myelin outfoldings; Onion bulb formation; Paresthesia; Pes cavus; Scoliosis; Segmental peripheral demyelination/remyelination; Sensorineural hearing impairment; Sensory ataxia; Slow progression; Split hand; Steppage gait; Talipes calcaneovalgus; Ulnar claw; Upper limb postural tremor; Variable expressivity; Vocal cord paralysis
PMP2217p12100%gene with protein product601097Abnormality of the immune system; Acute demyelinating polyneuropathy; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Childhood onset; Cold-induced muscle cramps; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Foot dorsiflexor weakness; Gait ataxia; Gait disturbance; Generalized hypotonia; Hammertoe; Hearing impairment; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Increased CSF protein; Infantile onset; Insidious onset; Juvenile onset; Kyphoscoliosis; Motor delay; Muscle weakness; Myelin outfoldings; Onion bulb formation; Paresthesia; Pes cavus; Scoliosis; Segmental peripheral demyelination/remyelination; Sensorineural hearing impairment; Sensory ataxia; Slow progression; Split hand; Steppage gait; Talipes calcaneovalgus; Ulnar claw; Upper limb postural tremor; Variable expressivity; Vocal cord paralysis
PMP2217p12100%gene with protein product601097Abnormality of the immune system; Acute demyelinating polyneuropathy; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Childhood onset; Cold-induced muscle cramps; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Foot dorsiflexor weakness; Gait ataxia; Gait disturbance; Generalized hypotonia; Hammertoe; Hearing impairment; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Increased CSF protein; Infantile onset; Insidious onset; Juvenile onset; Kyphoscoliosis; Motor delay; Muscle weakness; Myelin outfoldings; Onion bulb formation; Paresthesia; Pes cavus; Scoliosis; Segmental peripheral demyelination/remyelination; Sensorineural hearing impairment; Sensory ataxia; Slow progression; Split hand; Steppage gait; Talipes calcaneovalgus; Ulnar claw; Upper limb postural tremor; Variable expressivity; Vocal cord paralysis
PRPS1Xq22.399.96%gene with protein product311850DFN2Abnormal nerve conduction velocity; Absent speech; Areflexia; Areflexia of lower limbs; Ataxia; Childhood onset; Death in infancy; Decreased nerve conduction velocity; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Drooling; Dysphagia; Gait disturbance; Generalized hypotonia; Global developmental delay; Gout; Growth delay; Hearing impairment; Hyperuricosuria; Immunodeficiency; Impaired pain sensation; Intellectual disability; Motor delay; Muscle mounding; Muscle weakness; Muscular hypotonia; Neonatal hypotonia; Nystagmus; Onion bulb formation; Optic atrophy; Peripheral neuropathy; Pes cavus; Polyneuropathy; Progressive muscle weakness; Progressive visual loss; Recurrent infections; Recurrent upper respiratory tract infections; Renal insufficiency; Respiratory insufficiency; Segmental peripheral demyelination/remyelination; Seizures; Sensorineural hearing impairment; Sensory neuropathy; Skeletal muscle hypertrophy; Spinal cord posterior columns myelin loss; Tetraplegia; Uric acid nephrolithiasis; Variable expressivity; Visual impairment; Visual loss; X-linked recessive inheritance
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
SBF211p15.499.27%gene with protein product607697CMT4B2Areflexia; Autosomal recessive inheritance; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Difficulty walking; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Foot dorsiflexor weakness; Glaucoma; Hammertoe; Heterogeneous; Hyporeflexia; Juvenile onset; Kyphoscoliosis; Onion bulb formation; Pes cavus; Segmental peripheral demyelination/remyelination; Sensorineural hearing impairment; Split hand; Steppage gait; Talipes equinovarus; Ulnar clawBone Marrow Failure Syndromes


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