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"

If cutting and pasting from another document, please be sure to list EITHER one gene symbol per line OR enter a comma-separated list.


OR

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

What do you want to do?

Place an e-order of this Slice on a specific patient through the GeneDx Portal  
Obtain a Slice ID to order testing with a printed requisition form  
Only email the gene list to myself and/or others at this time  


 
Phenotypes
Peripheral axonal degeneration

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
APTX9p21.1100%gene with protein product606350AXA1Adult onset; Areflexia; Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cognitive impairment; Decreased number of large peripheral myelinated nerve fibers; Dementia; Distal amyotrophy; Distal sensory impairment; Dysarthria; Dystonia; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Hypercholesterolemia; Hypoalbuminemia; Hypometric saccades; Hyporeflexia; Juvenile onset; Limb ataxia; Medial flaring of the eyebrow; Muscle weakness; Oculomotor apraxia; Peripheral axonal degeneration; Peripheral neuropathy; Pes cavus; Progressive external ophthalmoplegia; Scoliosis; Tremor; Truncal ataxia
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
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
IGHMBP211q13.3100%gene with protein product600502Areflexia; Autosomal recessive inheritance; Axonal degeneration; Camptodactyly of finger; Constipation; Decreased fetal movement; Decreased nerve conduction velocity; Degeneration of anterior horn cells; Denervation of the diaphragm; Diaphragmatic eventration; Diaphragmatic paralysis; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; EMG: neuropathic changes; Failure to thrive; Foot dorsiflexor weakness; Hyperhidrosis; Hyporeflexia; Inspiratory stridor; Intrauterine growth retardation; Limb muscle weakness; Peripheral axonal degeneration; Premature birth; Respiratory failure; Slow progression; Small for gestational age; Spinal muscular atrophy; Steppage gait; Tachypnea; Talipes equinovarus; Urinary incontinence; Ventilator dependence with inability to wean; Weak cry
LRSAM19q33.3-q34.1100%gene with protein product610933Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Fasciculations; Foot dorsiflexor weakness; Hyporeflexia; Impaired distal vibration sensation; Incomplete penetrance; Peripheral axonal degeneration; Pes cavus; Slow progression; Steppage gait
SH3TC25q3299.99%gene with protein product608206Abnormal pupillary light reflex; Autosomal dominant inheritance; Autosomal recessive inheritance; Constrictive median neuropathy; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Difficulty walking; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Facial palsy; Hearing impairment; Heterogeneous; Mononeuropathy; Motor delay; Nystagmus; Peripheral axonal degeneration; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Polyneuropathy; Prolonged brainstem auditory evoked potentials; Scoliosis; Segmental peripheral demyelination; Tongue atrophy; Tongue fasciculations; Upper limb muscle weakness


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