XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Muscle cramps

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AMPD11p13.2100%gene with protein product102770Autosomal recessive inheritance; Exercise-induced muscle fatigue; Exercise-induced myalgia; Increased muscle fatiguability; Limb muscle weakness; Muscle cramps; Muscle weakness; Phenotypic variability
AMPD311p15.4100%gene with protein product102772Exercise-induced muscle fatigue; Exercise-induced myalgia; Limb muscle weakness; Muscle cramps
ANG14q11.2100%gene with protein product105850Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Depressivity; Distal amyotrophy; Distal muscle weakness; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; XerostomiaRhabdomyolysis
ARXq1299.99%gene with protein productPlease note spinal and bulbar muscular atrophy is associated with a repeat expansion in the AR gene which may not be detected by XomeDxSlice.313700DHTR, SBMAAbnormality of the mouth; Abnormality of the rib cage; Absent axillary hair; Absent facial hair; Absent pubic hair; Absent vas deferens; Adult onset; Aplasia of the uterus; Aplasia/Hypoplasia of the fallopian tube; Azoospermia; Bifid scrotum; Blind vagina; Bulbar palsy; Calf muscle hypertrophy; Cryptorchidism; Decreased fertility; Dysarthria; Dysphagia; Dysphonia; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Elevated serum creatine phosphokinase; Erectile abnormalities; Fasciculations; Female external genitalia in individual with 46,XY karyotype; Female pseudohermaphroditism; Gait disturbance; Gonadal neoplasm; Growth abnormality; Gynecomastia; Hypogonadism; Hyporeflexia; Hypospadias; Infertility; Inguinal hernia; Labial hypoplasia; Limb muscle weakness; Male pseudohermaphroditism; Micropenis; Muscle cramps; Muscular hypotonia; Neoplasm; Nephrolithiasis; Osteoporosis; Perineal hypospadias; Peripheral neuropathy; Primary amenorrhea; Sensory neuropathy; Skeletal muscle atrophy; Slow progression; Sparse axillary hair; Sparse pubic hair; Testicular atrophy; Tremor; X-linked recessive inheritanceAplastic Anemia ; Autoimmune Disorders ; Bardet-Biedl Syndrome ; Bone Marrow Failure Syndromes ; Disorders of Sex Development; Ectodermal Dysplasia ; Heterotaxy ; Inflammatory Bowel Disease ; Muscular dystropy-dystroglycanopathy (Walker-Warburg); Nephrotic Syndrome ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis
ATP2A116p11.2100%gene with protein product108730ATP2AAutosomal recessive inheritance; Muscle cramps
ATXN212q24.1299.04%gene with protein productXomeDxSlice is not appropriate.601517SCA2, TNRC13Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Bradykinesia; Dementia; Depressivity; Dilated fourth ventricle; Distal amyotrophy; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysmetric saccades; Dysphagia; Dyspnea; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Gaze-evoked nystagmus; Generalized hypotonia; Generalized muscle weakness; Genetic anticipation; Hyporeflexia; Impaired horizontal smooth pursuit; Impaired vibratory sensation; Limb ataxia; Muscle cramps; Myoclonus; Neurodegeneration; Oculomotor apraxia; Olivopontocerebellar atrophy; Ophthalmoplegia; Pain; Paralysis; Postural instability; Postural tremor; Progressive cerebellar ataxia; Respiratory failure; Rigidity; Rod-cone dystrophy; Skeletal muscle atrophy; Slow saccadic eye movements; Spasticity; Spinocerebellar tract degeneration; Urinary bladder sphincter dysfunction; Xerostomia
ATXN314q32.1298.28%gene with protein productXomeDxSlice is not appropriate.607047SCA3, MJDAbnormal electrooculogram; Absent Achilles reflex; Autosomal dominant inheritance; Babinski sign; Bradykinesia; Cerebellar atrophy; Chronic pain; Dementia; Dilated fourth ventricle; Diplopia; Distal amyotrophy; Dysmetric saccades; Dysphagia; Facial-lingual fasciculations; Genetic anticipation; Gliosis; Impaired horizontal smooth pursuit; Impaired vibratory sensation; Limb ataxia; Muscle cramps; Postural instability; Progressive; Progressive cerebellar ataxia; Proptosis; Ptosis; Rigidity; Spinocerebellar tract degeneration; Supranuclear ophthalmoplegia; Truncal ataxia; Urinary bladder sphincter dysfunction
C21ORF221q22.3100%gene with protein product603191CFAP410Amyotrophic lateral sclerosis; Anterior rib cupping; Anxiety; Autosomal recessive inheritance; Coxa vara; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Narrow greater sacrosciatic notches; Neurodegeneration; Nystagmus; Optic atrophy; Pain; Paralysis; Platyspondyly; Proximal femoral metaphyseal irregularity; Recurrent pneumonia; Respiratory failure; Rod-cone dystrophy; Short femoral neck; Short stature; Skeletal muscle atrophy; Spasticity; Spondylometaphyseal dysplasia; Thoracic hypoplasia; XerostomiaObesity
C9ORF729p21.299.97%gene with protein productXomeDxSlice is not appropriate.614260Abnormal brain FDG positron emission tomography; Abnormal lower motor neuron morphology; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Cerebral atrophy; Collectionism; Delusions; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Echolalia; EEG with continuous slow activity; Emotional blunting; Emotional lability; Extrapyramidal dyskinesia; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontotemporal cerebral atrophy; Frontotemporal dementia; Generalized muscle weakness; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Muscle cramps; Muscle weakness; Neurodegeneration; Neuronal loss in central nervous system; Pain; Paralysis; Paraparesis; Parkinsonism; Perseveration; Personality changes; Poor speech; Rapidly progressive; Respiratory failure; Restlessness; Restrictive behavior; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Tetraparesis; Thickened nuchal skin fold; Xerostomia
CACNA1S1q32.1100%gene with protein product114208HOKPP, MHS5, CACNL1A3Autosomal dominant inheritance; Constipation; Decreased urinary potassium; EMG abnormality; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; Graves disease; Hyperhidrosis; Hypokalemia; Hypomagnesemia; Hyporeflexia; Incomplete penetrance; Increased intramyocellular lipid droplets; Lower limb muscle weakness; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle stiffness; Obesity; Palpitations; Periodic hyperkalemic paralysis; Periodic hypokalemic paresis; Postprandial hyperglycemia; Rhabdomyolysis; Tetraplegia; Thyrotoxicosis with toxic multinodular goitre; Thyrotoxicosis with toxic single thyroid nodule; Transient hypophosphatemia; Tremor; Urinary retention; Weight loss
CASQ11q23.299.93%gene with protein product114250CASQAutosomal dominant inheritance; Centrally nucleated skeletal muscle fibers; Easy fatigability; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Fatiguable weakness of proximal limb muscles; Increased variability in muscle fiber diameter; Muscle cramps; Muscle fiber tubular inclusions; Muscle weakness; Myalgia; Myopathy; Proximal muscle weaknessRhabdomyolysis
CASQ11q23.299.93%gene with protein product114250CASQAutosomal dominant inheritance; Centrally nucleated skeletal muscle fibers; Easy fatigability; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Fatiguable weakness of proximal limb muscles; Increased variability in muscle fiber diameter; Muscle cramps; Muscle fiber tubular inclusions; Muscle weakness; Myalgia; Myopathy; Proximal muscle weaknessRhabdomyolysis
CASR3q13.33-q21.100%gene with protein product601199HHC, HHC1Abdominal pain; Abnormal enzyme/coenzyme activity; Abnormal pattern of respiration; Abnormal renal physiology; Abnormality of calcium-phosphate metabolism; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the thyroid gland; Alopecia; Aminoaciduria; Anemia; Anxiety; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Calcinosis; Constipation; Cortical myoclonus; Depressivity; Dry skin; Dyspnea; Elevated C-reactive protein level; Elevated circulating parathyroid hormone level; EMG abnormality; Emotional lability; Failure to thrive; Fatigable weakness; Feeding difficulties in infancy; Generalized hypotonia; Hepatomegaly; Hypercalcemia; Hypercalciuria; Hypermagnesemia; Hypermagnesiuria; Hyperparathyroidism; Hyperphosphatemia; Hyperphosphaturia; Hypocalcemia; Hypocalciuria; Hypomagnesemia; Hypophosphatemia; Hypotension; Leukocytosis; Metaphyseal irregularity; Muscle cramps; Muscular hypotonia; Narrow chest; Nephrocalcinosis; Nephrolithiasis; Pancreatitis; Paresthesia; Polydipsia; Polyuria; Primary hyperparathyroidism; Recurrent fractures; Recurrent pancreatitis; Seizures; Short stature; Splenomegaly; Tachypnea; Tetany
CAV33p25.3100%gene with protein product601253Abnormality of metabolism/homeostasis; Adult onset; Arrhythmia; Asymmetric septal hypertrophy; Autosomal dominant inheritance; Autosomal recessive inheritance; Calf muscle hypertrophy; Childhood onset; Congestive heart failure; Elevated serum creatine phosphokinase; EMG abnormality; Exercise-induced muscle cramps; Exercise-induced muscle stiffness; Exercise-induced myalgia; Gowers sign; Heterogeneous; Muscle cramps; Muscle hyperirritability; Muscle mounding; Muscular dystrophy; Myalgia; Percussion-induced rapid rolling muscle contractions; Pes cavus; Prolonged QT interval; Skeletal muscle hypertrophy; Subvalvular aortic stenosis; Sudden death; Ventricular arrhythmia
CCNF16p13.399.98%gene with protein product600227Amyotrophic lateral sclerosis; Anxiety; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
CHCHD1022q11.2398.57%gene with protein product615903C22orf16Amyotrophic lateral sclerosis; Anxiety; Areflexia; Ataxia; Autosomal dominant inheritance; Babinski sign; Bulbar palsy; Depressivity; Difficulty walking; Dysarthria; Dysphagia; Dyspnea; Elevated serum creatine phosphokinase; Emotional lability; Exercise intolerance; Facial palsy; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal lobe dementia; Frontotemporal dementia; Generalized muscle weakness; Hammertoe; Hyporeflexia; Increased serum lactate; Muscle cramps; Neck flexor weakness; Neurodegeneration; Pain; Paralysis; Pes cavus; Pes planus; Progressive; Proximal muscle weakness in lower limbs; Respiratory failure; Short stature; Skeletal muscle atrophy; Slow progression; Spasticity; Spinal muscular atrophy; Xerostomia
CHMP2B3p11.2100%gene with protein product609512Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Areflexia; Astrocytosis; Autosomal dominant inheritance; Babinski sign; Bulbar signs; Cerebral cortical atrophy; Collectionism; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Emotional blunting; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal release signs; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Generalized muscle weakness; Grammar-specific speech disorder; Hyperorality; Hyperreflexia; Hyporeflexia; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Muscle cramps; Mutism; Myoclonus; Neurodegeneration; Neuronal loss in central nervous system; Orofacial dyskinesia; Pain; Paralysis; Perseveration; Personality changes; Poor speech; Rapidly progressive; Respiratory failure; Respiratory insufficiency due to muscle weakness; Restlessness; Restrictive behavior; Rigidity; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Urinary incontinence; Xerostomia
CHRNE17p13.2100%gene with protein product100725Abnormality of the immune system; Apneic episodes precipitated by illness, fatigue, stress; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Congenital onset; Decreased fetal movement; Decreased miniature endplate potentials; Decreased muscle mass; Decreased size of nerve terminals; Dental malocclusion; Dysarthria; Dysphagia; Easy fatigability; EMG: decremental response of compound muscle action potential to repetitive nerve stimulation; Facial palsy; Fatigable weakness; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Generalized hypotonia due to defect at the neuromuscular junction; Gowers sign; High palate; Infantile onset; Limb muscle weakness; Long face; Mandibular prognathia; Motor delay; Muscle cramps; Muscular hypotonia; Neck muscle weakness; Neonatal hypotonia; Nonprogressive; Ophthalmoparesis; Ophthalmoplegia; Poor suck; Ptosis; Respiratory distress; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Strabismus; Sudden episodic apnea; Type 2 muscle fiber atrophy; Variable expressivity; Weak cry
COL4A113q3499.99%gene with protein product120130Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal dominant inheritance; Babinski sign; Blurred vision; Cerebellar atrophy; Cerebellar hypoplasia; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Dilatation of the cerebral artery; Elevated serum creatine phosphokinase; Exotropia; Facial paralysis; Glaucoma; Global developmental delay; Hematuria; Hemiparesis; Hemiplegia; Hemolytic anemia; Hydrocephalus; Hypopigmentation of the fundus; Hypoplasia of penis; Hyporeflexia; Intellectual disability; Ischemic stroke; Leukoencephalopathy; Limb dystonia; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Migraine with aura; Multiple renal cysts; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Nephropathy; Optic atrophy; Pachygyria; Polymicrogyria; Porencephalic cyst; Posterior leukoencephalopathy; Raynaud phenomenon; Renal cyst; Renal insufficiency; Retinal arteriolar tortuosity; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Retinal hemorrhage; Retinal vascular tortuosity; Schizencephaly; Scotoma; Seizures; Skeletal muscle atrophy; Spasticity; Specific learning disability; Supraventricular arrhythmia; Tetraparesis; Variable expressivity; Visual field defect; Visual lossHemolytic Anemia ; Muscular dystropy-dystroglycanopathy (Walker-Warburg)
COL4A113q3499.99%gene with protein product120130Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal dominant inheritance; Babinski sign; Blurred vision; Cerebellar atrophy; Cerebellar hypoplasia; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Dilatation of the cerebral artery; Elevated serum creatine phosphokinase; Exotropia; Facial paralysis; Glaucoma; Global developmental delay; Hematuria; Hemiparesis; Hemiplegia; Hemolytic anemia; Hydrocephalus; Hypopigmentation of the fundus; Hypoplasia of penis; Hyporeflexia; Intellectual disability; Ischemic stroke; Leukoencephalopathy; Limb dystonia; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Migraine with aura; Multiple renal cysts; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Nephropathy; Optic atrophy; Pachygyria; Polymicrogyria; Porencephalic cyst; Posterior leukoencephalopathy; Raynaud phenomenon; Renal cyst; Renal insufficiency; Retinal arteriolar tortuosity; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Retinal hemorrhage; Retinal vascular tortuosity; Schizencephaly; Scotoma; Seizures; Skeletal muscle atrophy; Spasticity; Specific learning disability; Supraventricular arrhythmia; Tetraparesis; Variable expressivity; Visual field defect; Visual lossHemolytic Anemia ; Muscular dystropy-dystroglycanopathy (Walker-Warburg)
CPT21p32.3100%gene with protein product600650CPT1Abnormality of nervous system morphology; Abnormality of the foot; Agenesis of corpus callosum; Antenatal intracerebral hemorrhage; Apnea; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia cysts; Bulbous nose; Cardiomegaly; Cardiomyopathy; Cataract; Coma; Decreased plasma free carnitine; Decreased plasma total carnitine; Dilated cardiomyopathy; Elbow flexion contracture; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Elevated serum long-chain fatty acids; Enlarged kidney; Fatigue; Feeding difficulties in infancy; Hepatic calcification; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperammonemia; Hypoketotic hypoglycemia; Hypoplastic toenails; Increased muscle lipid content; Increased total bilirubin; Infantile onset; Intracerebral periventricular calcifications; Knee flexion contracture; Lethargy; Long toe; Long-chain dicarboxylic aciduria; Low-set ears; Macrovesicular hepatic steatosis; Microcephaly; Multicystic kidney dysplasia; Muscle cramps; Muscle stiffness; Muscle weakness; Muscular hypotonia; Myalgia; Myoglobinuria; Myopathy; Narrow palate; Nausea and vomiting; Neonatal hypotonia; Nonketotic hypoglycemia; Overfolded helix; Polycystic kidney dysplasia; Polymicrogyria; Posteriorly rotated ears; Prominent forehead; Renal insufficiency; Respiratory arrest; Respiratory distress; Respiratory failure; Respiratory insufficiency; Rhabdomyolysis; Seizures; Sloping forehead; Tapered finger; Tapered toe; Ureteral duplication; Ventriculomegaly; Vomiting; Wide intermamillary distanceRhabdomyolysis
DAO12q24.11100%gene with protein product124050Amyotrophic lateral sclerosis; Anxiety; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
DCTN12p13.1100%gene with protein product601143Abnormal lower motor neuron morphology; Abnormality of metabolism/homeostasis; Adult onset; Amyotrophic lateral sclerosis; Anxiety; Apathy; Autosomal dominant inheritance; Bradykinesia; Central hypoventilation; Depressivity; Distal amyotrophy; Distal muscle weakness; Dysarthria; Dyspnea; Emotional lability; Facial palsy; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Hand muscle atrophy; Hand muscle weakness; Hypoventilation; Inappropriate behavior; Insomnia; Lower limb muscle weakness; Mask-like facies; Muscle cramps; Neurodegeneration; Pain; Paralysis; Parkinsonism; Rapidly progressive; Respiratory failure; Respiratory insufficiency; Rigidity; Short stepped shuffling gait; Skeletal muscle atrophy; Sleep disturbance; Slow progression; Spasticity; Tremor; Vertical supranuclear gaze palsy; Vocal cord paralysis; Weak voice; Weight loss; Xerostomia
DMDXp21.2-p21.199.94%gene with protein product300377MRX85Abnormal urinary color; Adult onset; Arrhythmia; Calf muscle hypertrophy; Calf muscle pseudohypertrophy; Cardiomyopathy; Childhood onset; Cognitive impairment; Congestive heart failure; Delayed speech and language development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Falls; Fatigue; Flexion contracture; Generalized hypotonia; Global developmental delay; Gowers sign; Hyperlordosis; Hyporeflexia; Hypoventilation; Intellectual disability; Intellectual disability, mild; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Myalgia; Myoglobinuria; Progressive muscle weakness; Proximal muscle weakness; Respiratory failure; Respiratory insufficiency; Scoliosis; Skeletal muscle atrophy; Specific learning disability; Waddling gait; X-linked inheritance; X-linked recessive inheritanceObesity; Rhabdomyolysis
DNA210q21.3100%gene with protein product601810DNA2LAutosomal dominant inheritance; Autosomal recessive inheritance; Convex nasal ridge; Ectopic kidney; Elevated serum creatine phosphokinase; Exercise intolerance; Exertional dyspnea; Facial palsy; Gait disturbance; Generalized amyotrophy; Global developmental delay; Gowers sign; Intellectual disability; Kyphoscoliosis; Limb-girdle muscle weakness; Microcephaly; Micrognathia; Muscle cramps; Myalgia; Progressive external ophthalmoplegia; Ptosis; Short stature; Slender build; Slow progression; Spinal cord compressionRhabdomyolysis
DOK74p16.399.82%gene with protein product610285C4orf25Abnormality of abdomen morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the immune system; Absent palmar crease; Absent septum pellucidum; Akinesia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Blepharophimosis; Bulbar palsy; Camptodactyly of finger; Cavum septum pellucidum; Cerebellar hypoplasia; Cleft palate; Cryptorchidism; Cystic hygroma; Depressed nasal bridge; Depressed nasal tip; Distal amyotrophy; Easy fatigability; Elbow ankylosis; Excessive daytime somnolence; Facial palsy; Fatigable weakness; Fetal akinesia sequence; Generalized amyotrophy; Gowers sign; High, narrow palate; Hydrocephalus; Hypertelorism; Hypokinesia; Intrauterine growth retardation; Juvenile onset; Long philtrum; Micrognathia; Mildly elevated creatine phosphokinase; Multiple joint contractures; Muscle cramps; Narrow mouth; Polyhydramnios; Posteriorly rotated ears; Premature birth; Proptosis; Proximal amyotrophy; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Rocker bottom foot; Scoliosis; Short neck; Short palpebral fissure; Short umbilical cord; Slender long bone; Small for gestational age; Small placenta; Talipes equinovarus; Telecanthus; Thin ribs; Thoracic hypoplasia; Ulnar deviation of the hand; Waddling gait
EPHA42q36.1100%gene with protein product602188TYRO1Amyotrophic lateral sclerosis; Anxiety; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
ERBB42q34100%gene with protein product600543Adult onset; Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Loss of ability to walk; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Spasticity; Xerostomia
FBXO385q32100%gene with protein product608533Autosomal dominant inheritance; Difficulty running; Difficulty walking; EMG: chronic denervation signs; Fasciculations; Lower limb amyotrophy; Lower limb muscle weakness; Muscle cramps; Slow progression; Spinal muscular atrophy; Triceps weakness; Variable expressivity; Weakness of the intrinsic hand muscles
FIG46q2199.96%gene with protein product609390KIAA0274Abnormal pelvis bone morphology; Abnormality of blood and blood-forming tissues; Abnormality of dental structure; Abnormality of the neck; Abnormality of the occipital bone; Abnormality of the parietal bone; Abnormality of the scapula; Absent nipple; Absent sternal ossification; Absent thumb; Agenesis of corpus callosum; Aggressive behavior; Amyotrophic lateral sclerosis; Ankle contracture; Anteverted nares; Anxiety; Aplasia of the 1st metacarpal; Aplasia of the distal phalanges of the hand; Aplasia of the distal phalanx of the hallux; Aplasia/hypoplasia of the 1st metatarsal; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the distal phalanges of the hand; Aplasia/Hypoplasia of the hallux; Aplasia/Hypoplasia of the middle phalanges of the hand; Aplasia/Hypoplasia of the nails; Aplasia/Hypoplasia of the nipples; Aplastic clavicles; Areflexia; Arrhinencephaly; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal loss; Bilateral external ear deformity; Bilateral microphthalmos; Broad secondary alveolar ridge; Bulbar signs; Cardiomegaly; Cardiomyopathy; Cataract; Congenital microcephaly; Cryptorchidism; Decreased motor nerve conduction velocity; Decreased nerve conduction velocity; Decreased skull ossification; Depressivity; Distal arthrogryposis; Distal muscle weakness; Distal sensory impairment; Dolichocephaly; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Focal seizures with impairment of consciousness or awareness; Frequent falls; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Generalized neonatal hypotonia; Global developmental delay; Hearing impairment; High forehead; High, narrow palate; Hip dislocation; Hydrops fetalis; Hypertelorism; Hypoplasia of the frontal lobes; Hypoplastic facial bones; Hyporeflexia; Hypospadias; Intrauterine growth retardation; Large fontanelles; Low-set ears; Metatarsus adductus; Microcephaly; Micrognathia; Micropenis; Muscle cramps; Neurodegeneration; Neuronal loss in central nervous system; Onion bulb formation; Pachygyria; Pain; Paralysis; Peripheral hypomyelination; Polyhydramnios; Polymicrogyria; Postnatal growth retardation; Premature birth; Premature loss of primary teeth; Progressive; Proptosis; Pulmonary arterial hypertension; Pyloric stenosis; Redundant neck skin; Respiratory failure; Rocker bottom foot; Sclerocornea; Severe failure to thrive; Severe global developmental delay; Short chin; Short clavicles; Short finger; Short middle phalanx of finger; Short philtrum; Short proximal phalanx of hallux; Short stature; Short toe; Short upper lip; Shortening of all distal phalanges of the toes; Single transverse palmar crease; Skeletal muscle atrophy; Small earlobe; Sparse and thin eyebrow; Sparse eyebrow; Sparse eyelashes; Sparse scalp hair; Spasticity; Status epilepticus; Syndactyly; Tapered finger; Tapered toe; Tetralogy of Fallot; Thin vermilion border; Toe syndactyly; Upper motor neuron dysfunction; Upslanted palpebral fissure; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visual hallucinations; Wide cranial sutures; XerostomiaDisorders of Sex Development
FKRP19q13.32100%gene with protein product606596Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the cerebral white matter; Abnormality of the voice; Absent septum pellucidum; Achilles tendon contracture; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Calf muscle hypertrophy; Cataract; Cerebellar atrophy; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Death in childhood; Delayed gross motor development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Feeding difficulties in infancy; Frequent falls; Gait disturbance; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Kyphosis; Left ventricular failure; Left ventricular hypertrophy; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myalgia; Myopathy; Myopia; Neonatal hypotonia; Neurological speech impairment; Nocturnal hypoventilation; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pelvic girdle muscle weakness; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal amyotrophy; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Restrictive deficit on pulmonary function testing; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Thigh hypertrophy; Toe walking; Type II lissencephaly; Variable expressivity; Vertebral fusion; Visual impairment; Waddling gaitMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
FKRP19q13.32100%gene with protein product606596Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the cerebral white matter; Abnormality of the voice; Absent septum pellucidum; Achilles tendon contracture; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Calf muscle hypertrophy; Cataract; Cerebellar atrophy; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Death in childhood; Delayed gross motor development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Feeding difficulties in infancy; Frequent falls; Gait disturbance; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Kyphosis; Left ventricular failure; Left ventricular hypertrophy; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myalgia; Myopathy; Myopia; Neonatal hypotonia; Neurological speech impairment; Nocturnal hypoventilation; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pelvic girdle muscle weakness; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal amyotrophy; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Restrictive deficit on pulmonary function testing; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Thigh hypertrophy; Toe walking; Type II lissencephaly; Variable expressivity; Vertebral fusion; Visual impairment; Waddling gaitMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
FUS16p11.2100%gene with protein product137070ALS6Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Decreased muscle mass; Depressivity; Dysarthria; Dyspnea; EMG abnormality; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Gait disturbance; Generalized muscle weakness; Hyperreflexia; Hyporeflexia; Muscle cramps; Neurodegeneration; Neuronal loss in central nervous system; Pain; Paralysis; Postural tremor; Proximal amyotrophy; Pseudobulbar behavioral symptoms; Respiratory failure; Skeletal muscle atrophy; Spasticity; Subcutaneous nodule; Xerostomia
GABRA3Xq2899.99%gene with protein product305660Constipation; Decreased urinary potassium; EMG abnormality; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; Graves disease; Hyperhidrosis; Hypomagnesemia; Hyporeflexia; Increased intramyocellular lipid droplets; Lower limb muscle weakness; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle stiffness; Obesity; Palpitations; Periodic hypokalemic paresis; Postprandial hyperglycemia; Rhabdomyolysis; Tetraplegia; Thyrotoxicosis with toxic multinodular goitre; Thyrotoxicosis with toxic single thyroid nodule; Transient hypophosphatemia; Tremor; Urinary retention; Weight loss
GFPT12p13.399.97%gene with protein product138292GFPTAbnormality of the immune system; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Decreased fetal movement; Decreased muscle mass; Decreased size of nerve terminals; Dental malocclusion; Dysarthria; Dysphagia; Easy fatigability; EMG: decremental response of compound muscle action potential to repetitive nerve stimulation; Facial palsy; Fatigable weakness; Feeding difficulties; Generalized hypotonia; Gowers sign; High palate; Infantile onset; Juvenile onset; Long face; Mandibular prognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle cramps; Muscular hypotonia; Neck muscle weakness; Nonprogressive; Ophthalmoparesis; Proximal amyotrophy; Ptosis; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Strabismus; Type 2 muscle fiber atrophy; Variable expressivity; Waddling gait; Weak cry
GFPT12p13.399.97%gene with protein product138292GFPTAbnormality of the immune system; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Decreased fetal movement; Decreased muscle mass; Decreased size of nerve terminals; Dental malocclusion; Dysarthria; Dysphagia; Easy fatigability; EMG: decremental response of compound muscle action potential to repetitive nerve stimulation; Facial palsy; Fatigable weakness; Feeding difficulties; Generalized hypotonia; Gowers sign; High palate; Infantile onset; Juvenile onset; Long face; Mandibular prognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle cramps; Muscular hypotonia; Neck muscle weakness; Nonprogressive; Ophthalmoparesis; Proximal amyotrophy; Ptosis; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Strabismus; Type 2 muscle fiber atrophy; Variable expressivity; Waddling gait; Weak cry
GLAXq22.199.83%gene with protein product300644Abdominal pain; Abnormal aortic valve morphology; Abnormality of the hand; Abnormality of the renal tubule; Anemia; Angina pectoris; Angiokeratoma; Anorexia; Arrhythmia; Arthralgia; Arthritis; Atrioventricular block; Bundle branch block; Cataract; Coarse facial features; Cognitive impairment; Congestive heart failure; Conjunctival telangiectasia; Corneal dystrophy; Corneal opacity; Delayed puberty; Diarrhea; Dysautonomia; Emphysema; Fasciculations; Fatigue; Hematuria; Hyperkeratosis; Hyperlipidemia; Hypertension; Hypohidrosis; Juvenile onset; Left ventricular hypertrophy; Left ventricular septal hypertrophy; Lymphedema; Malabsorption; Mitral regurgitation; Muscle cramps; Myalgia; Myocardial infarction; Nausea; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Obstructive lung disease; Optic atrophy; Paresthesia; Proteinuria; Renal insufficiency; Seizures; Short stature; Subcutaneous nodule; Telangiectasia of the skin; Tenesmus; Thick lower lip vermilion; Transient ischemic attack; Vomiting; X-linked recessive inheritance
GLE19q34.1199.99%gene with protein product603371GLE1L, LCCS1Abnormal anterior horn cell morphology; Abnormal cortical bone morphology; Abnormality of the amniotic fluid; Abnormality of the elbow; Abnormality of the hip bone; Abnormality of the ribs; Abnormality of the thorax; Amniotic constriction ring; Amyotrophic lateral sclerosis; Anxiety; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Depressivity; Dyspnea; Edema; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Fetal akinesia sequence; Generalized muscle weakness; Hypertelorism; Hypoplasia of the musculature; Limitation of joint mobility; Low-set ears; Low-set, posteriorly rotated ears; Micrognathia; Muscle cramps; Neonatal death; Neurodegeneration; Pain; Paralysis; Paucity of anterior horn motor neurons; Polyhydramnios; Pulmonary hypoplasia; Recurrent fractures; Respiratory failure; Short neck; Short stature; Skeletal muscle atrophy; Slender long bone; Spasticity; Webbed neck; Widening of cervical spinal canal; Xerostomia
HINT15q23.3100%gene with protein product601314PRKCNH1, HINTAbnormality of the foot; Autosomal recessive inheritance; Distal sensory impairment; Elevated serum creatine phosphokinase; Fasciculations; Foot dorsiflexor weakness; Hyperhidrosis; Muscle cramps; Muscle stiffness; Myokymia; Myotonia; Progressive; Sensory axonal neuropathy; Skeletal muscle atrophy
HNRNPA112q13.13100%gene with protein product164017HNRPA1Abnormality of the abdominal musculature; Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Brain atrophy; Depressivity; Distal muscle weakness; Dyspnea; Elevated alkaline phosphatase; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontotemporal dementia; Generalized muscle weakness; Hip pain; Hyperlordosis; Increased variability in muscle fiber diameter; Limb-girdle muscular dystrophy; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle fiber inclusion bodies; Muscular dystrophy; Myopathy; Neurodegeneration; Osteolysis; Pain; Paralysis; Proximal muscle weakness; Respiratory failure; Rimmed vacuoles; Short stature; Skeletal muscle atrophy; Spasticity; Ubiquitin-positive cerebral inclusion bodies; Waddling gait; Xerostomia
HSPB17q11.23100%gene with protein product602195Adult onset; Areflexia; Areflexia of lower limbs; Autosomal dominant inheritance; Chronic axonal neuropathy; Decreased motor nerve conduction velocity; Difficulty walking; Distal amyotrophy; Distal lower limb amyotrophy; Distal lower limb muscle weakness; Distal muscle weakness; Distal sensory impairment; EMG: chronic denervation signs; EMG: neuropathic changes; Fasciculations; Foot dorsiflexor weakness; Heterogeneous; Hyporeflexia; Hyporeflexia of lower limbs; Impaired pain sensation; Impaired temperature sensation; Limb fasciculations; Lower limb muscle weakness; Muscle cramps; Paresis of extensor muscles of the big toe; Peripheral axonal neuropathy; Peripheral neuropathy; Pes cavus; Reduced tendon reflexes; Slow progression; Split hand; Steppage gait; Talipes equinovarus; Ulnar claw; Upper limb amyotrophy
ISCU12q23.3100%gene with protein productThe common intronic variant is not detectable by XomeDxSlice.611911NIFUNAbnormal iron deposition in mitochondria; Autosomal recessive inheritance; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex II; Decreased activity of mitochondrial complex III; Dyspnea; Elevated serum creatine phosphokinase; Exercise intolerance; Increased intramyocellular lipid droplets; Increased serum lactate; Juvenile onset; Lactic acidosis; Mitochondrial myopathy; Muscle cramps; Muscle weakness; Myoglobinuria; Myopathy; Palpitations; Sideroblastic anemia; Subsarcolemmal accumulations of abnormally shaped mitochondriaRhabdomyolysis
KCNJ111q24.3100%gene with protein product600359Abnormally large globe; Autosomal recessive inheritance; Chondrocalcinosis; Constipation; Dehydration; Diarrhea; Failure to thrive; Fetal polyuria; Fever; Frontal bossing; Generalized muscle weakness; Global developmental delay; Heterogeneous; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hypercalciuria; Hyperchloriduria; Hyperprostaglandinuria; Hypochloremia; Hypokalemia; Hypokalemic metabolic alkalosis; Hyposthenuria; Impaired platelet aggregation; Increased circulating renin level; Increased serum prostaglandin E2; Increased urinary potassium; Intellectual disability; Low-to-normal blood pressure; Macrocephaly; Macrotia; Muscle cramps; Nephrocalcinosis; Osteopenia; Paresthesia; Polydipsia; Polyhydramnios; Polyuria; Premature birth; Prominent forehead; Renal juxtaglomerular cell hypertrophy/hyperplasia; Renal potassium wasting; Renal salt wasting; Seizures; Short stature; Small for gestational age; Tetany; Triangular face; Vomiting
KCNJ1817p11.2100%gene with protein productXomeDxSlice is not appropriate.613236Constipation; Decreased urinary potassium; EMG abnormality; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; Graves disease; Hyperhidrosis; Hypomagnesemia; Hyporeflexia; Increased intramyocellular lipid droplets; Lower limb muscle weakness; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle stiffness; Obesity; Palpitations; Periodic hypokalemic paresis; Postprandial hyperglycemia; Rhabdomyolysis; Tetraplegia; Thyrotoxicosis with toxic multinodular goitre; Thyrotoxicosis with toxic single thyroid nodule; Transient hypophosphatemia; Tremor; Urinary retention; Weight loss
LDHA11p15.1100%gene with protein product150000Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Exercise intolerance; Increased serum lactate; Increased serum pyruvate; Juvenile onset; Muscle cramps; Muscle stiffness; Myalgia; Myoglobinuria; Renal insufficiency; Rhabdomyolysis; RigidityRhabdomyolysis
MATR35q31.2100%gene with protein product164015MPD2Abnormal lower motor neuron morphology; Abnormal upper motor neuron morphology; Abnormality of the nasopharynx; Adult onset; Amyotrophic lateral sclerosis; Anxiety; Aspiration; Autosomal dominant inheritance; Bowing of the vocal cords; Bulbar palsy; Bulbar signs; Decreased nerve conduction velocity; Depressivity; Distal muscle weakness; Dysarthria; Dysphagia; Dyspnea; Elevated serum creatine phosphokinase; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Hoarse voice; Hyperreflexia; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Respiratory insufficiency due to muscle weakness; Rimmed vacuoles; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spasticity; Variable expressivity; Xerostomia
MORC222q12.2100%gene with protein product616661ZCWCC1Autosomal dominant inheritance; Difficulty walking; Distal sensory impairment; Fasciculations; Foot dorsiflexor weakness; Generalized hypotonia; Hearing impairment; High pitched voice; Muscle cramps; Myokymia; Pes cavus; Phenotypic variability; Slow progression
MYF612q21.31100%gene with protein product159991Autosomal dominant inheritance; Elevated serum creatine phosphokinase; Muscle cramps; Muscle weakness; Ring fibers
NEFH22q12.2100%gene with protein product162230Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Depressivity; Distal sensory impairment; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frequent falls; Generalized muscle weakness; Hyporeflexia; Increased variability in muscle fiber diameter; Muscle cramps; Muscle fiber splitting; Myopathy; Neurodegeneration; Pain; Paralysis; Pes cavus; Progressive; Pyloric stenosis; Ragged-red muscle fibers; Respiratory failure; Rimmed vacuoles; Sensory axonal neuropathy; Skeletal muscle atrophy; Spasticity; Variable expressivity; Waddling gait; Xerostomia
NEK14q3399.77%gene with protein product604588Ambiguous genitalia; Amyotrophic lateral sclerosis; Anxiety; Autosomal recessive inheritance; Cleft palate; Depressivity; Digenic inheritance; Disproportionate shortening of the tibia; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Hamartoma of tongue; Horizontal ribs; Hydrops fetalis; Hypoplasia of the epiglottis; Lateral clavicle hook; Median cleft lip; Muscle cramps; Narrow chest; Neurodegeneration; Pain; Paralysis; Polycystic kidney dysplasia; Polysyndactyly of hallux; Postaxial hand polydactyly; Postaxial polysyndactyly of foot; Preaxial hand polydactyly; Pulmonary hypoplasia; Respiratory failure; Short ribs; Skeletal muscle atrophy; Spasticity; Thoracic dysplasia; XerostomiaDisorders of Sex Development; Short-Rib Thoracic Dysplasia
OPA319q13.32100%gene with protein product6065803-Methylglutaconic aciduria; Abnormality of extrapyramidal motor function; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cataract; Central scotoma; Cerebellar atrophy; Chorea; Choreoathetosis; Cognitive impairment; Dysarthria; Hyperreflexia; Intellectual disability; Muscle cramps; Nystagmus; Optic atrophy; Pain; Paresthesia; Posterior cortical cataract; Postural tremor; Reduced visual acuity; Spastic paraparesis; Spasticity; Tremor; Unsteady gait; Visual impairment
OPTN10p13100%gene with protein product602432GLC1EAmyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Depressivity; Dysarthria; Dysphagia; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Muscle weakness; Myopia; Neurodegeneration; Open angle glaucoma; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Tongue fasciculations; Xerostomia
ORAI112q24.3199.36%gene with protein product610277TMEM142AAbnormal thrombocyte morphology; Abnormality of coagulation; Abnormality of the musculature; Anemia; Areflexia of lower limbs; Asplenia; Autosomal dominant inheritance; Autosomal recessive inheritance; Centrally nucleated skeletal muscle fibers; Deeply set eye; Difficulty walking; Ectodermal dysplasia; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Episodic fever; Failure to thrive; Fatiguable weakness of proximal limb muscles; Flexion contracture; Foot dorsiflexor weakness; Generalized muscle weakness; Gowers sign; Heat intolerance; High forehead; Hypocalcemia; Ichthyosis; Immunodeficiency; Increased variability in muscle fiber diameter; Miosis; Muscle cramps; Muscle fiber tubular inclusions; Muscular hypotonia; Myalgia; Myopathy; Neurological speech impairment; Proximal muscle weakness; Purpura; Recurrent aphthous stomatitis; Recurrent infections; Respiratory insufficiency due to muscle weakness; Short stature; Slow progression; Spinal rigidityAutoimmune Disorders ; Ectodermal Dysplasia
PFN117p13.2100%gene with protein product176610Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Depressivity; Dysarthria; Dysphagia; Dyspnea; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Muscle weakness; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
PHGDH1p12100%gene with protein product606879Ablepharon; Abnormality of the philtrum; Absent eyelashes; Absent septum pellucidum; Adducted thumb; Agenesis of corpus callosum; Ambiguous genitalia; Aplasia/Hypoplasia involving the skeletal musculature; Autosomal recessive inheritance; Bifid uterus; Broad foot; Calcaneovalgus deformity; Camptodactyly; Cataract; Cerebellar hypoplasia; Cerebral dysmyelination; Choroid plexus cyst; Cleft palate; Cleft upper lip; Clinodactyly; Congenital cataract; Congenital microcephaly; Cryptorchidism; Dandy-Walker malformation; Decreased fetal movement; Decreased testicular size; Depressed nasal ridge; Everted lower lip vermilion; External genital hypoplasia; Finger syndactyly; Generalized edema; Growth delay; Hydranencephaly; Hypertelorism; Hypogonadism; Hypsarrhythmia; Ichthyosis; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Lack of skin elasticity; Large hands; Lissencephaly; Macrogyria; Macrotia; Megaloblastic anemia; Microcephaly; Micrognathia; Micromelia; Microphthalmia; Muscle cramps; Muscular dystrophy; Nystagmus; Opisthotonus; Pachygyria; Patent ductus arteriosus; Patent foramen ovale; Polyhydramnios; Polymicrogyria; Proptosis; Pterygium; Pulmonary hypoplasia; Radial deviation of finger; Renal agenesis; Rocker bottom foot; Seizures; Short neck; Short umbilical cord; Skeletal muscle atrophy; Sloping forehead; Small placenta; Spastic tetraplegia; Spina bifida; Stillbirth; Thick lower lip vermilion; Thick vermilion border; Thrombocytopenia; Toe syndactyly; Transposition of the great arteries; Trismus; Ventricular septal defect; Yellow subcutaneous tissue covered by thin, scaly skinPalmoplantar keratoderma plus congenital ichthyosis
PON17q21.399.99%gene with protein product168820PONAmyotrophic lateral sclerosis; Anxiety; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
PON27q21.399.94%gene with protein product602447Amyotrophic lateral sclerosis; Anxiety; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
PON37q21.3100%gene with protein product602720Amyotrophic lateral sclerosis; Anxiety; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
PPARGC1A4p15.299.98%gene with protein product604517PPARGC1Amyotrophic lateral sclerosis; Anxiety; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
PRPH12q13.12100%gene with protein product170710NEF4Amyotrophic lateral sclerosis; Anxiety; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
PSAT19q21.299.93%gene with protein product610936Abnormality of the philtrum; Abnormality of the pinna; Absent septum pellucidum; Ambiguous genitalia; Aplasia/Hypoplasia involving the skeletal musculature; Autosomal recessive inheritance; Broad foot; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Congenital onset; Dandy-Walker malformation; Decreased fetal movement; Depressed nasal ridge; Everted lower lip vermilion; External genital hypoplasia; Feeding difficulties in infancy; Global developmental delay; High palate; Hypertelorism; Hypertonia; Hypoglycinemia; Hypogonadism; Hyposerinemia; Ichthyosis; Infantile onset; Intrauterine growth retardation; Lack of skin elasticity; Large hands; Lissencephaly; Low-set ears; Macrogyria; Macrotia; Microcephaly; Micrognathia; Muscle cramps; Muscular dystrophy; Opisthotonus; Pachygyria; Polyhydramnios; Polymicrogyria; Postnatal microcephaly; Proptosis; Rocker bottom foot; Scoliosis; Seizures; Short neck; Skeletal muscle atrophy; Sloping forehead; Thick vermilion border; TrismusPalmoplantar keratoderma plus congenital ichthyosis
SCN4A17q23.3100%gene with protein product603967HYKPPApneic episodes in infancy; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebral palsy; Chest pain; Dysphagia; Easy fatigability; Elevated serum creatine phosphokinase; EMG abnormality; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; External ophthalmoplegia; Fasciculations; Fatigable weakness; Feeding difficulties; Gait disturbance; Handgrip myotonia; Hyperkalemia; Hypertonia; Hypokalemia; Incomplete penetrance; Increased intramyocellular lipid droplets; Infantile onset; Inspiratory stridor; Laryngospasm; Mildly elevated creatine phosphokinase; Motor delay; Muscle cramps; Muscle stiffness; Muscle weakness; Myalgia; Myopathy; Myotonia; Paradoxical myotonia; Percussion myotonia; Periodic hyperkalemic paralysis; Periodic hypokalemic paresis; Periodic paralysis; Phenotypic variability; Postprandial hyperglycemia; Ptosis; Reduced tendon reflexes; Skeletal muscle hypertrophy; Stridor; Variable expressivity
SCN4A17q23.3100%gene with protein product603967HYKPPApneic episodes in infancy; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebral palsy; Chest pain; Dysphagia; Easy fatigability; Elevated serum creatine phosphokinase; EMG abnormality; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; External ophthalmoplegia; Fasciculations; Fatigable weakness; Feeding difficulties; Gait disturbance; Handgrip myotonia; Hyperkalemia; Hypertonia; Hypokalemia; Incomplete penetrance; Increased intramyocellular lipid droplets; Infantile onset; Inspiratory stridor; Laryngospasm; Mildly elevated creatine phosphokinase; Motor delay; Muscle cramps; Muscle stiffness; Muscle weakness; Myalgia; Myopathy; Myotonia; Paradoxical myotonia; Percussion myotonia; Periodic hyperkalemic paralysis; Periodic hypokalemic paresis; Periodic paralysis; Phenotypic variability; Postprandial hyperglycemia; Ptosis; Reduced tendon reflexes; Skeletal muscle hypertrophy; Stridor; Variable expressivity
SCN4A17q23.3100%gene with protein product603967HYKPPApneic episodes in infancy; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebral palsy; Chest pain; Dysphagia; Easy fatigability; Elevated serum creatine phosphokinase; EMG abnormality; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; External ophthalmoplegia; Fasciculations; Fatigable weakness; Feeding difficulties; Gait disturbance; Handgrip myotonia; Hyperkalemia; Hypertonia; Hypokalemia; Incomplete penetrance; Increased intramyocellular lipid droplets; Infantile onset; Inspiratory stridor; Laryngospasm; Mildly elevated creatine phosphokinase; Motor delay; Muscle cramps; Muscle stiffness; Muscle weakness; Myalgia; Myopathy; Myotonia; Paradoxical myotonia; Percussion myotonia; Periodic hyperkalemic paralysis; Periodic hypokalemic paresis; Periodic paralysis; Phenotypic variability; Postprandial hyperglycemia; Ptosis; Reduced tendon reflexes; Skeletal muscle hypertrophy; Stridor; Variable expressivity
SLC12A115q21.1100%gene with protein product600839Autosomal recessive inheritance; Chondrocalcinosis; Constipation; Dehydration; Diarrhea; Failure to thrive; Fetal polyuria; Fever; Generalized muscle weakness; Global developmental delay; Heterogeneous; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hypercalcemia; Hypercalciuria; Hyperchloriduria; Hyperprostaglandinuria; Hypochloremia; Hypokalemia; Hypokalemic metabolic alkalosis; Hypomagnesemia; Hyposthenuria; Increased circulating renin level; Increased serum prostaglandin E2; Increased urinary potassium; Intellectual disability; Low-to-normal blood pressure; Muscle cramps; Nephrocalcinosis; Osteopenia; Paresthesia; Polyhydramnios; Polyuria; Premature birth; Renal juxtaglomerular cell hypertrophy/hyperplasia; Renal potassium wasting; Renal salt wasting; Seizures; Short stature; Small for gestational age; Tetany; Vomiting
SLC12A316q1399.99%gene with protein product600968Autosomal recessive inheritance; Chondrocalcinosis; Generalized muscle weakness; Hypocalciuria; Hypokalemia; Hypokalemic alkalosis; Hypomagnesemia; Increased circulating renin level; Juvenile onset; Muscle cramps; Paralysis; Paresthesia; Polydipsia; Polyuria; Renal magnesium wasting; Renal potassium wasting; Seizures; Tetany
SMN15q13.2gene with protein productXomeDxSlice is not appropriate.600354SMA@, SMAAdult onset; Areflexia; Areflexia of lower limbs; Atrial septal defect; Autosomal recessive inheritance; Decreased fetal movement; Degeneration of anterior horn cells; EMG abnormality; EMG: neuropathic changes; Hand tremor; Hyporeflexia; Limb fasciculations; Muscle cramps; Muscle weakness; Progressive; Proximal amyotrophy; Proximal muscle weakness; Proximal muscle weakness in lower limbs; Recurrent respiratory infections; Respiratory failure; Slow progression; Spinal muscular atrophy; Tongue fasciculations; Ventricular septal defect
SOD121q22.11100%gene with protein product147450ALS, ALS1Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Degeneration of anterior horn cells; Degeneration of the lateral corticospinal tracts; Depressivity; Dyspnea; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Heterogeneous; Hyperreflexia; Muscle cramps; Muscle weakness; Neurodegeneration; Pain; Paralysis; Pseudobulbar paralysis; Respiratory failure; Skeletal muscle atrophy; Sleep apnea; Spasticity; Xerostomia
SOD121q22.11100%gene with protein product147450ALS, ALS1Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Degeneration of anterior horn cells; Degeneration of the lateral corticospinal tracts; Depressivity; Dyspnea; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Heterogeneous; Hyperreflexia; Muscle cramps; Muscle weakness; Neurodegeneration; Pain; Paralysis; Pseudobulbar paralysis; Respiratory failure; Skeletal muscle atrophy; Sleep apnea; Spasticity; Xerostomia
SQSTM15q35.3100%gene with protein product601530PDB3, OSILAbnormal brain FDG positron emission tomography; Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral white matter; Absent Achilles reflex; Aggressive behavior; Amyotrophic lateral sclerosis; Anxiety; Apathy; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Brain stem compression; Bulbar palsy; Cerebral cortical atrophy; Collectionism; Cranial nerve paralysis; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysdiadochokinesis; Dysgraphia; Dyslexia; Dysmetria; Dysphagia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Elevated alkaline phosphatase; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: myotonic discharges; EMG: positive sharp waves; Emotional blunting; Emotional lability; Facial palsy; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Fractures of the long bones; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait ataxia; Generalized muscle weakness; Heterogeneous; Hip flexor weakness; Hydroxyprolinuria; Hyperorality; Hyperreflexia; Hyporeflexia; Hypothyroidism; Inappropriate behavior; Increased susceptibility to fractures; Increased variability in muscle fiber diameter; Irritability; Lack of insight; Language impairment; Limb ataxia; Limited shoulder movement; Limited wrist extension; Long-tract signs; Loss of speech; Memory impairment; Mental deterioration; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle fiber inclusion bodies; Mutism; Neurodegeneration; Nystagmus; Oculomotor apraxia; Osteolysis; Osteosarcoma; Pain; Paralysis; Paraparesis; Patchy osteosclerosis; Perseveration; Personality changes; Phenotypic variability; Poor speech; Premature loss of teeth; Progressive; Respiratory failure; Restlessness; Restrictive behavior; Rimmed vacuoles; Scapular winging; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spasticity; Steppage gait; Stereotypy; Tetraparesis; Thickened nuchal skin fold; Tibialis muscle weakness; Tremor; Variable expressivity; Vertebral compression fractures; Vertical supranuclear gaze palsy; Xerostomia
STIM111p15.4100%gene with protein product605921Abnormal thrombocyte morphology; Abnormality of coagulation; Abnormality of the musculature; Adult onset; Anemia; Areflexia of lower limbs; Asplenia; Autoimmune hemolytic anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Centrally nucleated skeletal muscle fibers; Deeply set eye; Difficulty running; Easy fatigability; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Episodic fever; Exercise-induced myalgia; Fatiguable weakness of proximal limb muscles; Frequent falls; High forehead; Hypohidrosis; Hypoplasia of the iris; Hyporeflexia of lower limbs; Ichthyosis; Immunodeficiency; Increased variability in muscle fiber diameter; Lymphadenopathy; Miosis; Muscle cramps; Muscle fiber tubular inclusions; Muscle stiffness; Muscular hypotonia; Myalgia; Myopathy; Nail dysplasia; Neurological speech impairment; Proximal amyotrophy; Proximal muscle weakness; Purpura; Recurrent bacterial infections; Short stature; Slow progression; Thrombocytopenia; Type 2 muscle fiber atrophy; Variable expressivity; Weakness of the intrinsic hand musclesAutoimmune Disorders ; Inflammatory Bowel Disease ; Palmoplantar keratoderma plus congenital ichthyosis
STIM111p15.4100%gene with protein product605921Abnormal thrombocyte morphology; Abnormality of coagulation; Abnormality of the musculature; Adult onset; Anemia; Areflexia of lower limbs; Asplenia; Autoimmune hemolytic anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Centrally nucleated skeletal muscle fibers; Deeply set eye; Difficulty running; Easy fatigability; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Episodic fever; Exercise-induced myalgia; Fatiguable weakness of proximal limb muscles; Frequent falls; High forehead; Hypohidrosis; Hypoplasia of the iris; Hyporeflexia of lower limbs; Ichthyosis; Immunodeficiency; Increased variability in muscle fiber diameter; Lymphadenopathy; Miosis; Muscle cramps; Muscle fiber tubular inclusions; Muscle stiffness; Muscular hypotonia; Myalgia; Myopathy; Nail dysplasia; Neurological speech impairment; Proximal amyotrophy; Proximal muscle weakness; Purpura; Recurrent bacterial infections; Short stature; Slow progression; Thrombocytopenia; Type 2 muscle fiber atrophy; Variable expressivity; Weakness of the intrinsic hand musclesAutoimmune Disorders ; Inflammatory Bowel Disease ; Palmoplantar keratoderma plus congenital ichthyosis
TAF1517q12100%gene with protein product601574TAF2NAmyotrophic lateral sclerosis; Anxiety; Chondrosarcoma; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Somatic mutation; Spasticity; Xerostomia
TARDBP1p36.22100%gene with protein product605078Amyotrophic lateral sclerosis; Anxiety; Apathy; Autosomal dominant inheritance; Babinski sign; Depressivity; Disinhibition; Dysarthria; Dysphagia; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Perseveration; Rapidly progressive; Respiratory failure; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Spasticity; Stereotypy; Xerostomia
TBK112q14.298.91%gene with protein product604834Abnormal lower motor neuron morphology; Adult onset; Amyotrophic lateral sclerosis; Anxiety; Apathy; Autosomal dominant inheritance; Bulbar palsy; Cerebral cortical atrophy; Depressivity; Disinhibition; Dysarthria; Dysphagia; Dyspnea; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontotemporal dementia; Generalized muscle weakness; Hyperreflexia; Hyporeflexia; Language impairment; Muscle cramps; Mutism; Neurodegeneration; Pain; Paralysis; Personality changes; Phenotypic variability; Progressive; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
TRAPPC114q35.1100%gene with protein product614138C4orf41Achalasia; Adrenal insufficiency; Ataxia; Athetosis; Autosomal recessive inheritance; Cataract; Chorea; Difficulty walking; Dystonia; Elevated serum creatine phosphokinase; Generalized hyperpigmentation; Generalized hypotonia; Global developmental delay; Gowers sign; Hip dysplasia; Hyperlordosis; Inability to walk; Intellectual disability; Limb-girdle muscular dystrophy; Microcephaly; Muscle cramps; Myalgia; Myopia; Palmoplantar keratoderma; Phenotypic variability; Poor speech; Scoliosis; Seizures; Short stature; Strabismus; Tremor; Visual impairment; Waddling gait
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
UBQLN2Xp11.21100%gene with protein product300264Adult onset; Amyotrophic lateral sclerosis; Anxiety; Athetosis; Depressivity; Dysarthria; Dysphagia; Dyspnea; Dystonia; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontotemporal dementia; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Progressive; Respiratory failure; Skeletal muscle atrophy; Spasticity; X-linked dominant inheritance; Xerostomia
UNC13A19p13.11100%gene with protein product609894Amyotrophic lateral sclerosis; Anxiety; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
VAPB20q13.32100%gene with protein product605704Amyotrophic lateral sclerosis; Anxiety; Areflexia; Autosomal dominant inheritance; Depressivity; Dysarthria; Dyspnea; EMG: neuropathic changes; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Hyporeflexia; Morphological abnormality of the pyramidal tract; Muscle cramps; Neurodegeneration; Neuronal loss in central nervous system; Pain; Paralysis; Postural tremor; Progressive muscle weakness; Proximal muscle weakness; Respiratory failure; Skeletal muscle atrophy; Spasticity; Spinal muscular atrophy; Xerostomia
VCP9p13.3100%gene with protein product601023Abnormal brain FDG positron emission tomography; Abnormal nerve conduction velocity; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral white matter; Absent Achilles reflex; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apraxia; Arthralgia; Autosomal dominant inheritance; Babinski sign; Back pain; Bone pain; Brain atrophy; Collectionism; Depressivity; Difficulty climbing stairs; Disinhibition; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Elevated alkaline phosphatase; Elevated alkaline phosphatase of bone origin; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Emotional blunting; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal cortical atrophy; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Gait imbalance; Generalized muscle weakness; Grammar-specific speech disorder; Hammertoe; Hip pain; Hyperlordosis; Hyperorality; Impaired vibration sensation in the lower limbs; Inappropriate behavior; Increased spinal bone density; Increased variability in muscle fiber diameter; Irritability; Lack of insight; Limb fasciculations; Limb muscle weakness; Loss of speech; Lower limb hyperreflexia; Lumbar hyperlordosis; Memory impairment; Muscle cramps; Muscle weakness; Myopathy; Neurodegeneration; Osteolysis; Pain; Paralysis; Pelvic girdle amyotrophy; Pelvic girdle muscle atrophy; Pelvic girdle muscle weakness; Perseveration; Personality changes; Pes cavus; Poor speech; Progressive; Proximal muscle weakness; Recurrent fractures; Respiratory failure; Restlessness; Restrictive behavior; Rimmed vacuoles; Scapular winging; Short stature; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spastic gait; Spastic paraplegia; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Tongue fasciculations; Ubiquitin-positive cerebral inclusion bodies; Variable expressivity; Waddling gait; Xerostomia


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