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Phenotypes
Decreased number of peripheral myelinated nerve fibers

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
DHH12q13.12100%gene with protein product605423Abnormal peripheral myelination; Abnormality of female external genitalia; Abnormality of peripheral nerve conduction; Abnormality of the epididymis; Abnormality of the vagina; Autosomal recessive inheritance; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum testosterone level; Distal muscle weakness; Distal sensory loss of all modalities; Gonadal dysgenesis; Gonadal dysgenesis with female appearance, male; Gonadal dysgenesis, male; Gonadoblastoma; Heterogeneous; Hypogonadotrophic hypogonadism; Hypoplasia of the fallopian tube; Hypoplasia of the uterus; Increased circulating gonadotropin level; Infertility; Male hypogonadism; Male pseudohermaphroditism; Polycystic ovaries; Polyneuropathy; Primary amenorrhea; Reduced tendon reflexes; Sensorimotor neuropathy; Sensory ataxic neuropathy; Sex reversal; Skeletal muscle atrophy; Streak ovary; Testicular dysgenesisDisorders of Sex Development
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
DNMT119p13.299.61%gene with protein product126375DNMTAdult onset; Apathy; Ataxia; Autosomal dominant inheritance; Cataplexy; Cerebellar atrophy; Cerebral atrophy; Decreased number of peripheral myelinated nerve fibers; Dementia; Depressivity; Excessive daytime sleepiness; Excessive daytime somnolence; Hyperreflexia; Hyporeflexia; Impulsivity; Irritability; Memory impairment; Narcolepsy; Osteomyelitis; Primitive reflex; Progressive; Sensorineural hearing impairment; Sensory neuropathy; Spasticity
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
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
GAN16q23.299.89%gene with protein product605379Abnormal hand morphology; Abnormal pyramidal signs; Abnormality of the Achilles tendon; Abnormality of the cerebellum; Abnormality of the hand; Areflexia; Areflexia of lower limbs; Autosomal recessive inheritance; CNS hypomyelination; Curly hair; Decreased number of peripheral myelinated nerve fibers; Difficulty walking; Diffuse axonal swelling; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Facial palsy; Generalized hypotonia; Hyperreflexia; Hyporeflexia of lower limbs; Intellectual disability; Joint hypermobility; Juvenile onset; Morphological abnormality of the pyramidal tract; Motor axonal neuropathy; Nystagmus; Pes cavus; Pes planus; Phenotypic variability; Pili canaliculi; Proximal muscle weakness; Scoliosis; Sensory axonal neuropathy; Slow progression; Spastic paraplegia; Spasticity; Steppage gait; Talipes equinovarus; Unsteady gait; Woolly hair
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
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
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
GJB1Xq13.1100%gene with protein product304040CMTX1, CMTXAbnormal nerve conduction velocity; Abnormality of the cerebral white matter; Achilles tendon contracture; Areflexia; Axonal degeneration; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Difficulty walking; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Distal upper limb amyotrophy; Dysarthria; Dysphagia; Hyporeflexia; Impaired pain sensation; Incomplete penetrance; Motor aphasia; Motor delay; Onion bulb formation; Paraparesis; Pes cavus; Sensory neuropathy; Slow progression; Toe walking; Tremor; X-linked dominant inheritance; X-linked recessive inheritance
JPH18q21.11100%gene with protein product605266Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal regeneration; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Heterogeneous; Infantile onset; Kyphoscoliosis; Proximal muscle weakness; Split hand; Talipes equinovarus
KIF1A2q37.3100%gene with protein product601255ATSV, C2orf20, SPG30Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of eye movement; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of saccadic eye movements; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Abnormality of the palate; Abnormality of upper lip; Acral ulceration leading to autoamputation of digits; Anhidrosis; Ankle clonus; Anteverted nares; Areflexia; Ataxia; Atrophy/Degeneration affecting the brainstem; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Biparietal narrowing; Cerebellar atrophy; Cerebral cortical atrophy; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Distal amyotrophy; Distal sensory impairment; Drowsiness; Dysmetria; Dystrophic fingernails; Dystrophic toenail; Edema of the lower limbs; Epicanthus; Episodic hyperhidrosis; External ear malformation; Feeding difficulties; Feeding difficulties in infancy; Foot acroosteolysis; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hydrocephalus; Hyperhidrosis; Hyperlordosis; Hyperreflexia; Hyporeflexia; Hypsarrhythmia; Infantile onset; Infantile spasms; Intellectual disability, severe; Leg muscle stiffness; Limitation of joint mobility; Lower limb amyotrophy; Lower limb hyperreflexia; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Malar flattening; Microcephaly; Midface retrusion; Open mouth; Optic atrophy; Osteolytic defects of the phalanges of the hand; Painless fractures due to injury; Palpebral edema; Paronychia; Peripheral axonal neuropathy; Peripheral edema; Peripheral neuropathy; Porencephalic cyst; Progressive; Progressive spastic paraplegia; Recurrent respiratory infections; Reduced bone mineral density; Scissor gait; Sensorimotor neuropathy; Severe muscular hypotonia; Short nose; Skeletal muscle atrophy; Slow progression; Spastic gait; Spastic paraplegia; Tapered finger; Unsteady gait; Urinary bladder sphincter dysfunction; Variable expressivity; Ventriculomegaly; Visual loss; Wormian bones
KIF1B1p36.2299.97%gene with protein product605995CMT2A, CMT2Adrenal pheochromocytoma; Areflexia; Autosomal dominant inheritance; Axonal degeneration/regeneration; Cafe-au-lait spot; Cerebral hemorrhage; Chest pain; Congenital cataract; Congestive heart failure; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysphonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Foot dorsiflexor weakness; Glomerulosclerosis; Hammertoe; Hemangioma; Heterogeneous; Hypercalcemia; Hyperhidrosis; Hypertensive retinopathy; Hyporeflexia; Nausea; Neoplasm; Onion bulb formation; Onset; Palpitations; Paraganglioma of head and neck; Paroxysmal vertigo; Peripheral axonal atrophy; Pes cavus; Pheochromocytoma; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Renal artery stenosis; Sinus tachycardia; Slow progression; Steppage gait; Tachycardia; Weight loss
LMNA1q22100%gene with protein product150330LMN1, CMD1A, LGMD1B, PRO1, LMNL1Abnormal atrioventricular conduction; Abnormal cellular phenotype; Abnormal electrophysiology of sinoatrial node origin; Abnormal eyebrow morphology; Abnormal hair whorl; Abnormal trabecular bone morphology; Abnormality of circulating leptin level; Abnormality of retinal pigmentation; Abnormality of the Achilles tendon; Abnormality of the cerebral vasculature; Abnormality of the foot; Abnormality of the intrahepatic bile duct; Abnormality of the nail; Abnormality of the pinna; Abnormality of the pulmonary artery; Abnormality of the testis; Abnormality of the voice; Absence of pubertal development; Absence of subcutaneous fat; Absent eyebrow; Absent eyelashes; Acanthosis nigricans; Accelerated atherosclerosis; Achilles tendon contracture; Acroosteolysis of distal phalanges (feet); Acute pancreatitis; Adipose tissue loss; Adrenal hypoplasia; Advanced eruption of teeth; Alopecia; Alopecia universalis; Aminoaciduria; Angina pectoris; Aortic atherosclerosis; Aortic root aneurysm; Aortic valve calcification; Aortic valve stenosis; Aplasia of the middle phalanx of the hand; Aplasia of the phalanges of the 3rd toe; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Areflexia; Arrhythmia; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atherosclerosis; Atrial arrhythmia; Atrial fibrillation; Atrial flutter; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Axonal degeneration/regeneration; Basal cell carcinoma; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brachydactyly; Bradycardia; Broad-based gait; Calcinosis; Calf muscle hypertrophy; Choanal atresia; Chondrocalcinosis; Clinodactyly; Congenital muscular dystrophy; Congenital pseudoarthrosis of the clavicle; Congestive heart failure; Convex nasal ridge; Coronary artery atherosclerosis; Craniofacial disproportion; Cyanosis; Decreased adiponectin level; Decreased calvarial ossification; Decreased cervical spine flexion due to contractures of posterior cervical muscles; Decreased circulating high-density lipoprotein levels; Decreased fertility; Decreased fetal movement; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum leptin; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Delayed puberty; Dental crowding; Dermal atrophy; Dermal translucency; Diabetes mellitus; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Downslanted palpebral fissures; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Emphysema; Enlarged peripheral nerve; Entropion; Epidermal hyperkeratosis; Failure to thrive; Fasting hyperinsulinemia; Fatiguable weakness of proximal limb muscles; Feeding difficulties; Flexion contracture; Foot dorsiflexor weakness; Fragile nails; Full cheeks; Gait disturbance; Generalized amyotrophy; Generalized hyperkeratosis; Generalized lipodystrophy; Generalized osteoporosis; Global developmental delay; Glucose intolerance; Glycosuria; Growth delay; Hepatic steatosis; Hepatomegaly; Heterogeneous; High palate; High pitched voice; Hirsutism; Hydropic placenta; Hypercholesterolemia; Hyperglycemia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperkeratosis; Hyperlipidemia; Hyperlordosis; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypertension; Hypertriglyceridemia; Hypodontia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hyporeflexia; Hypospadias; Hypotrichosis; Increased adipose tissue around the neck; Increased anterioposterior diameter of thorax; Increased facial adipose tissue; Increased intraabdominal fat; Increased intramuscular fat; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intervertebral disc degeneration; Intracranial hemorrhage; Intrauterine growth retardation; Joint stiffness; Juvenile onset; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Labial pseudohypertrophy; Lack of skin elasticity; Large fontanelles; Laryngomalacia; Limb muscle weakness; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Limitation of joint mobility; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Malar flattening; Meningioma; Metaphyseal widening; Micrognathia; Midface retrusion; Mildly elevated creatine phosphokinase; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve calcification; Motor delay; Mottled pigmentation; Multiple joint contractures; Muscle hypertrophy of the lower extremities; Muscular dystrophy; Muscular hypotonia; Myalgia; Myocardial infarction; Myopathy; Nail dysplasia; Narrow face; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Neck muscle weakness; Neoplasm of the breast; Neoplasm of the lung; Neoplasm of the oral cavity; Neoplasm of the skin; Neoplasm of the small intestine; Neoplasm of the thyroid gland; Onion bulb formation; Onset; Osteoarthritis; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Osteosarcoma; Ovarian neoplasm; Overtubulated long bones; Ovoid vertebral bodies; Papillary renal cell carcinoma; Patchy hypo- and hyperpigmentation; Patent ductus arteriosus; Pelvic girdle amyotrophy; Pelvic girdle muscle weakness; Pericardial effusion; Peripheral arterial stenosis; Peripheral axonal atrophy; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Pili torti; Polycystic ovaries; Polyhydramnios; Poor head control; Postnatal growth retardation; Precocious atherosclerosis; Precocious puberty; Premature arteriosclerosis; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature ovarian insufficiency; Premature rupture of membranes; Premature skin wrinkling; Progeroid facial appearance; Progressive; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Prominent superficial veins; Proptosis; Proximal muscle weakness; Proximal muscle weakness in upper limbs; Proximal upper limb muscle hypertrophy; Ptosis; Pulmonary carcinoid tumor; Pulmonary hypoplasia; Reduced subcutaneous adipose tissue; Renal neoplasm; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Reticulated skin pigmentation; Retinal degeneration; Retrognathia; Rocker bottom foot; Round face; Scaling skin; Scapular winging; Scleroderma; Sclerosis of hand bone; Secondary amenorrhea; Sensorineural hearing impairment; Severe muscular hypotonia; Short clavicles; Short distal phalanx of finger; Short nail; Short palm; Short palpebral fissure; Short stature; Short umbilical cord; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Skin erosion; Skin ulcer; Slow progression; Small placenta; Sparse and thin eyebrow; Sparse body hair; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Sparse scalp hair; Spinal rigidity; Squamous cell carcinoma of the skin; Steppage gait; Stiff skin; Stillbirth; Structural foot deformity; Subcutaneous calcification; Submucous cleft hard palate; Sudden cardiac death; Supraventricular arrhythmia; Syncope; Syndactyly; Talipes; Tapering pointed ends of distal finger phalanges; Telangiectasia of the skin; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Type II diabetes mellitus; Upper limb muscle weakness; Ureteral duplication; Variable expressivity; Ventricular arrhythmia; Ventricular hypertrophy; White forelock; Wide nasal bridge; Widely patent fontanelles and sutures; Wormian bones; X-linked inheritance; XanthomatosisHeterotaxy ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
MFN21p36.22100%gene with protein product608507Abnormality of color vision; Abnormality of visual evoked potentials; Anosmia; Areflexia; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal degeneration/regeneration; Babinski sign; Central scotoma; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Delayed gross motor development; Difficulty walking; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Distal sensory impairment of all modalities; Dysmetric saccades; Flexion contracture; Foot dorsiflexor weakness; Gait disturbance; Hammertoe; Hepatomegaly; Hyporeflexia; Incomplete penetrance; Infantile onset; Insulin resistance; Joint stiffness; Kyphosis; Limb muscle weakness; Lumbar hyperlordosis; Multiple lipomas; Onion bulb formation; Optic atrophy; Optic disc pallor; Pain; Paresthesia; Peripheral axonal atrophy; Peripheral axonal neuropathy; Pes cavus; Positive Romberg sign; Proximal muscle weakness; Reduced tendon reflexes; Scoliosis; Slow decrease in visual acuity; Slow progression; Steppage gait; Tinnitus; Variable expressivity; Vocal cord paresis
MPV172p23.3100%gene with protein product137960Abnormality of the foot; Abnormality of the immune system; Acral ulceration and osteomyelitis leading to autoamputation of digits; Acute hepatic failure; Areflexia; Ataxia; Autosomal recessive inheritance; Cirrhosis; Decreased number of peripheral myelinated nerve fibers; Diarrhea; Distal muscle weakness; Dystonia; Elevated hepatic transaminases; Failure to thrive; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hypoglycemia; Hyporeflexia; Increased susceptibility to fractures; Infantile onset; Lactic acidosis; Macrovesicular hepatic steatosis; Microvesicular hepatic steatosis; Nystagmus; Osteomyelitis leading to amputation due to slow healing fractures; Pain insensitivity; Painless fractures due to injury; Phenotypic variability; Progressive; Prolonged neonatal jaundice; Recurrent corneal erosions; Reye syndrome-like episodes; Sensorimotor neuropathy; Short stature; Vomiting
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
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
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
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
RAB7A3q21.399.98%gene with protein product602298RAB7Areflexia; Autoamputation of foot; Autosomal dominant inheritance; Axonal degeneration/regeneration; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Dystrophic toenail; Foot dorsiflexor weakness; Foot osteomyelitis; Hammertoe; Hyporeflexia; Peripheral axonal atrophy; Pes cavus; Pes planus; Steppage gait
RETREG15p15.1100%gene with protein productformer name = FAM134B613114FAM134BAbnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Acral ulceration leading to autoamputation of digits; Anhidrosis; Areflexia; Autosomal recessive inheritance; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Dystrophic fingernails; Dystrophic toenail; Episodic hyperhidrosis; Feeding difficulties in infancy; Foot acroosteolysis; Gastroesophageal reflux; Generalized hypotonia; Hyperhidrosis; Hyperlordosis; Hyporeflexia; Infantile onset; Juvenile onset; Osteolytic defects of the phalanges of the hand; Osteomyelitis; Painless fractures due to injury; Paronychia; Peripheral axonal neuropathy; Peripheral neuropathy; Progressive; Reduced bone mineral density; Skeletal muscle atrophy; Slow progression; Spasticity; Tapered finger; Urinary incontinence; Wormian bones
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
SCN9A2q24.399.99%gene with protein product603415Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Abnormality of the musculature; Absence seizures; Acral ulceration leading to autoamputation of digits; Anal pain; Anhidrosis; Anosmia; Areflexia; Ataxia; Atonic seizures; Autosomal dominant inheritance; Autosomal recessive inheritance; Blurred vision; Bradycardia; Constipation; Cutaneous photosensitivity; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Diarrhea; Dysautonomia; Dystrophic fingernails; Dystrophic toenail; EEG abnormality; Episodic hyperhidrosis; Erythema; Febrile seizures; Feeding difficulties in infancy; Focal clonic seizures; Focal seizures; Foot acroosteolysis; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Hyperhidrosis; Hyperlordosis; Hypohidrosis; Hyporeflexia; Hyposmia; Impaired pain sensation; Infantile onset; Jaw pain; Juvenile onset; Keratoconjunctivitis sicca; Lacrimation abnormality; Mandibular pain; Muscular hypotonia; Myalgia; Neonatal onset; Neurodevelopmental delay; Obtundation status; Ocular pain; Osteolytic defects of the phalanges of the hand; Pain insensitivity; Painless fractures due to injury; Palpitations; Paronychia; Peripheral neuropathy; Pruritus; Pschomotor retardation; Reduced bone mineral density; Seizures; Skeletal muscle atrophy; Slow progression; Tachycardia; Tapered finger; Tremor; Urinary incontinence; Variable expressivity; Wormian bones; Xerostomia
SPG1115q21.199.98%gene with protein product610844KIAA1840Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of the periventricular white matter; Adult onset; Agenesis of corpus callosum; Amyotrophic lateral sclerosis; Ankle clonus; Aplasia/Hypoplasia of the corpus callosum; Ataxia; Autosomal recessive inheritance; Babinski sign; Bulbar signs; Cerebral cortical atrophy; Childhood onset; Cognitive impairment; Decreased muscle mass; Decreased number of peripheral myelinated nerve fibers; Degeneration of the lateral corticospinal tracts; Distal amyotrophy; Distal muscle weakness; Distal peripheral sensory neuropathy; Distal sensory impairment; Dysarthria; Dysphagia; EMG abnormality; Fasciculations; Foot dorsiflexor weakness; Gait disturbance; Gaze-evoked nystagmus; Hyperreflexia; Hypoplasia of the corpus callosum; Impaired vibration sensation in the lower limbs; Intellectual disability; Juvenile onset; Knee clonus; Lower limb muscle weakness; Lower limb spasticity; Macular degeneration; Mental deterioration; Motor polyneuropathy; Nystagmus; Obesity; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Progressive; Pseudobulbar behavioral symptoms; Respiratory insufficiency due to muscle weakness; Saccadic smooth pursuit; Seizures; Sensory neuropathy; Slow progression; Spastic gait; Spastic paraplegia; Spasticity; Specific learning disability; Thenar muscle atrophy; Tip-toe gait; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency; Ventriculomegaly; Visual impairment
TFG3q12.2100%gene with protein product602498Abnormal myelination; Abnormality of peripheral nerve conduction; Abnormality of the Achilles tendon; Adult onset; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Decreased number of peripheral myelinated nerve fibers; Degeneration of anterior horn cells; Difficulty climbing stairs; Difficulty standing; Distal lower limb amyotrophy; Distal sensory impairment; Fasciculations; Gait disturbance; Gliosis; Hyperlipidemia; Hyperreflexia; Inability to walk; Mildly elevated creatine phosphokinase; Motor polyneuropathy; Optic atrophy; Peripheral neuropathy; Proximal amyotrophy; Proximal muscle weakness; Sensorimotor neuropathy; Sensory neuropathy; Slow progression; Spastic paraplegia; Tetraplegia; Visual loss
TRIM24q31.3100%gene with protein product614141Areflexia; Autosomal recessive inheritance; Broad-based gait; Decreased muscle mass; Decreased number of peripheral myelinated nerve fibers; Generalized hypotonia; Knee flexion contracture; Muscle weakness; Peripheral axonal neuropathy; Pes cavus; Respiratory insufficiency; Talipes equinovarus; Tracheomalacia; Vocal cord paralysisInflammatory Bowel Disease
WNK112p13.33100%gene with protein product605232PRKWNK1, HSN2Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Acral ulceration leading to autoamputation of digits; Anhidrosis; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Dystrophic fingernails; Dystrophic toenail; Episodic hyperhidrosis; Feeding difficulties in infancy; Foot acroosteolysis; Gastroesophageal reflux; Generalized hypotonia; Hyperchloremia; Hyperchloremic metabolic acidosis; Hyperhidrosis; Hyperkalemia; Hyperlordosis; Hypertension; Hyporeflexia; Infantile onset; Metabolic acidosis; Osteolytic defects of the phalanges of the hand; Painless fractures due to injury; Paronychia; Peripheral neuropathy; Pseudohypoaldosteronism; Reduced bone mineral density; Skeletal muscle atrophy; Slow progression; Tapered finger; Wormian bones


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