XomeDxSlice Tool

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

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Emotional lability

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
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
ARSA22q13.33100%gene with protein product607574Abnormality of the cerebral white matter; Ataxia; Autosomal recessive inheritance; Babinski sign; Bulbar palsy; Cholecystitis; Chorea; Decreased nerve conduction velocity; Delusions; Dysarthria; Dystonia; EMG: neuropathic changes; Emotional lability; Gait disturbance; Gallbladder dysfunction; Generalized hypotonia; Hallucinations; Hyperreflexia; Hyporeflexia; Increased CSF protein; Intellectual disability; Loss of speech; Mental deterioration; Optic atrophy; Peripheral demyelination; Progressive peripheral neuropathy; Seizures; Spastic tetraplegia; Tetraplegia; Urinary incontinence
ATP1A319q13.2100%gene with protein product182350DYT12Anxiety; Areflexia; Ataxia; Autosomal dominant inheritance; Blindness; Bradykinesia; Choreoathetosis; Depressivity; Drooling; Dysarthria; Dysmetria; Dysphagia; Dystonia; Emotional lability; Encephalopathy; Episodic ataxia; Episodic generalized hypotonia; Episodic quadriplegia; Gait ataxia; Global developmental delay; Hemiparesis; Hemiplegia; Hypomimic face; Incomplete penetrance; Intellectual disability; Mental deterioration; Muscle weakness; Mutism; Nystagmus; Optic atrophy; Parkinsonism; Pes cavus; Postural instability; Progressive sensorineural hearing impairment; Progressive visual loss; Sensorineural hearing impairment; Status epilepticus; Torticollis; Truncal ataxia; Unsteady gait; Young adult onset
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
BCS1L2q35100%gene with protein product603647Abnormal pattern of respiration; Abnormality of the abdominal wall; Abnormality of the coagulation cascade; Alopecia; Aminoaciduria; Anhidrosis; Ataxia; Autosomal recessive inheritance; Brittle hair; Cataract; Cerebellar atrophy; Cerebral atrophy; Cholangitis; Cholestasis; Chronic lactic acidosis; Cirrhosis; CNS demyelination; Coarse hair; Death in early adulthood; Decreased liver function; Decreased mitochondrial complex III activity in liver tissue; Decreased transferrin saturation; Depressivity; Dry hair; Dysarthria; Dystonia; EEG abnormality; Elevated hepatic iron concentration; Elevated hepatic transaminases; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes; Hallucinations; Hearing impairment; Hepatic steatosis; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hypogonadism; Increased CSF lactate; Increased serum ferritin; Increased serum iron; Increased serum lactate; Increased serum pyruvate; Infantile onset; Intellectual disability; Intrauterine growth retardation; Lactic acidosis; Metabolic acidosis; Microvesicular hepatic steatosis; Mitochondrial encephalopathy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Pili torti; Progressive; Ptosis; Ragged-red muscle fibers; Renal Fanconi syndrome; Respiratory failure; Rhabdomyolysis; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus; Tubulointerstitial nephritis; Variable expressivity
BCS1L2q35100%gene with protein product603647Abnormal pattern of respiration; Abnormality of the abdominal wall; Abnormality of the coagulation cascade; Alopecia; Aminoaciduria; Anhidrosis; Ataxia; Autosomal recessive inheritance; Brittle hair; Cataract; Cerebellar atrophy; Cerebral atrophy; Cholangitis; Cholestasis; Chronic lactic acidosis; Cirrhosis; CNS demyelination; Coarse hair; Death in early adulthood; Decreased liver function; Decreased mitochondrial complex III activity in liver tissue; Decreased transferrin saturation; Depressivity; Dry hair; Dysarthria; Dystonia; EEG abnormality; Elevated hepatic iron concentration; Elevated hepatic transaminases; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes; Hallucinations; Hearing impairment; Hepatic steatosis; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hypogonadism; Increased CSF lactate; Increased serum ferritin; Increased serum iron; Increased serum lactate; Increased serum pyruvate; Infantile onset; Intellectual disability; Intrauterine growth retardation; Lactic acidosis; Metabolic acidosis; Microvesicular hepatic steatosis; Mitochondrial encephalopathy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Pili torti; Progressive; Ptosis; Ragged-red muscle fibers; Renal Fanconi syndrome; Respiratory failure; Rhabdomyolysis; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus; Tubulointerstitial nephritis; Variable expressivity
C19ORF1219q1294.81%gene with protein product614297SPG43Abnormal lower motor neuron morphology; Ankle contracture; Ataxia; Autosomal recessive inheritance; Babinski sign; Delayed speech and language development; Dementia; Depressivity; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Elevated serum creatine phosphokinase; Emotional lability; Gait disturbance; Hyperreflexia; Hyporeflexia; Impulsivity; Knee flexion contracture; Lewy bodies; Neurodegeneration; Optic atrophy; Oromandibular dystonia; Parkinsonism; Pes cavus; Phenotypic variability; Progressive; Progressive visual loss; Scapular winging; Slow progression; Spastic paraplegia; Spasticity; Tremor; Variable expressivity
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
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
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
COX1017p12100%gene with protein product602125Abnormal pattern of respiration; Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; CNS demyelination; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Glycosuria; Hepatocellular necrosis; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory failure; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
COX1510q24.294.3%gene with protein product603646Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Decreased fetal movement; Dysarthria; Dystonia; Emotional lability; Encephalopathy; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatic steatosis; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Microcephaly; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
CTSF11q13.2100%gene with protein product603539Abnormality of extrapyramidal motor function; Adult onset; Ataxia; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Dementia; Depressivity; Diffuse cerebral atrophy; Dysarthria; Emotional lability; Hyperreflexia; Myoclonus; Primitive reflex; Progressive; Seizures; Tremor
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
DDC7p12.2-p12.199.99%gene with protein product107930Autosomal recessive inheritance; Babinski sign; Choreoathetosis; Constipation; Decreased CSF homovanillic acid; Diarrhea; Emotional lability; Feeding difficulties in infancy; Gastroesophageal reflux; Global developmental delay; Hyperhidrosis; Hyperreflexia; Hypotension; Infantile onset; Intermittent hypothermia; Irritability; Limb dystonia; Limb hypertonia; Miosis; Muscular hypotonia of the trunk; Myoclonus; Nasal obstruction; Ptosis; Sleep disturbance; Temperature instability
EIF2B112q24.31100%gene with protein product606686EIF2BAutosomal recessive inheritance; Cerebral hypomyelination; Cessation of head growth; CNS demyelination; Decreased circulating progesterone; Delusions; Developmental regression; Dysarthria; Emotional lability; Generalized hypotonia; Juvenile onset; Lethargy; Leukoencephalopathy; Macrocephaly; Memory impairment; Optic atrophy; Personality changes; Premature ovarian insufficiency; Primary gonadal insufficiency; Secondary amenorrhea; Seizures; Spasticity; Unsteady gait
EIF2B214q24.3100%gene with protein product606454Autosomal recessive inheritance; Cerebral hypomyelination; Cessation of head growth; CNS demyelination; Decreased circulating progesterone; Delusions; Developmental regression; Dysarthria; Emotional lability; Generalized hypotonia; Juvenile onset; Lethargy; Leukoencephalopathy; Macrocephaly; Memory impairment; Optic atrophy; Personality changes; Premature ovarian insufficiency; Primary gonadal insufficiency; Secondary amenorrhea; Seizures; Spasticity; Unsteady gait
EIF2B31p34.1100%gene with protein product606273Autosomal recessive inheritance; Cerebral hypomyelination; Cessation of head growth; CNS demyelination; Decreased circulating progesterone; Delusions; Developmental regression; Dysarthria; Emotional lability; Generalized hypotonia; Juvenile onset; Lethargy; Leukoencephalopathy; Macrocephaly; Memory impairment; Optic atrophy; Personality changes; Premature ovarian insufficiency; Primary gonadal insufficiency; Secondary amenorrhea; Seizures; Spasticity; Unsteady gait
EIF2B42p23.3100%gene with protein product606687Autosomal recessive inheritance; Cerebral hypomyelination; Cessation of head growth; CNS demyelination; Decreased circulating progesterone; Delusions; Developmental regression; Dysarthria; Emotional lability; Generalized hypotonia; Juvenile onset; Lethargy; Leukoencephalopathy; Macrocephaly; Memory impairment; Optic atrophy; Personality changes; Premature ovarian insufficiency; Primary gonadal insufficiency; Secondary amenorrhea; Seizures; Spasticity; Unsteady gait
EIF2B53q27.1100%gene with protein product603945Autosomal recessive inheritance; Cerebral hypomyelination; Cessation of head growth; CNS demyelination; Decreased circulating progesterone; Delusions; Developmental regression; Dysarthria; Emotional lability; Generalized hypotonia; Juvenile onset; Lethargy; Leukoencephalopathy; Macrocephaly; Memory impairment; Optic atrophy; Personality changes; Premature ovarian insufficiency; Primary gonadal insufficiency; Secondary amenorrhea; Seizures; Spasticity; Unsteady gait
ELP19q31.399.97%gene with protein product603722DYS, IKBKAPAbnormal pupil morphology; Abnormal renal physiology; Acrocyanosis; Alacrima; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Congenital onset; Constipation; Corneal erosion; Corneal ulceration; Decreased corneal reflex; Decreased number of large peripheral myelinated nerve fibers; Decreased sensitivity to hypoxemia; Decreased taste sensation; Diarrhea; Elevated serum creatinine; EMG abnormality; Emotional lability; Episodic fever; Episodic hyperhidrosis; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Glomerulosclerosis; Growth delay; Hyperhidrosis; Hypertension; Hypohidrosis; Hyporeflexia; Impaired pain sensation; Incoordination; Increased blood urea nitrogen; Malignant hyperthermia; Muscular hypotonia; Neuropathic arthropathy; Orthostatic hypotension; Progressive; Recurrent corneal erosions; Recurrent infections due to aspiration; Recurrent respiratory infections; Scoliosis; Tachycardia; Vomiting
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
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
FOXRED111q24.2100%gene with protein product613622Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
FTL19q13.33100%gene with protein product134790Abnormality of metabolism/homeostasis; Anarthria; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Blepharospasm; Bradykinesia; Cataract; Cavitation of the basal ganglia; Chorea; Choreoathetosis; Congenital nuclear cataract; Decreased serum ferritin; Dementia; Disinhibition; Dysarthria; Dysphagia; Dysphonia; Dystonia; Emotional lability; Gait disturbance; Hyperreflexia; Hypomimic face; Increased serum ferritin; Laryngeal dystonia; Mutism; Neurodegeneration; Optic atrophy; Orofacial dyskinesia; Parkinsonism; Phenotypic variability; Progressive; Retinal degeneration; Rigidity; Spastic diplegia; Spasticity; Tremor
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
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
GNA1119p13.399.98%gene with protein product139313HHC2Abdominal pain; Abnormal pattern of respiration; Abnormality of the fingernails; Alopecia; Anxiety; Arrhythmia; Choroidal melanoma; Ciliary body melanoma; Cortical myoclonus; Depressivity; Dry skin; EMG abnormality; Emotional lability; Fatigable weakness; Hypercalciuria; Hypermagnesiuria; Hyperphosphatemia; Hypocalcemia; Hypomagnesemia; Hypotension; Iris melanoma; Nephrocalcinosis; Paresthesia; Retinal detachment; Visual loss
HDAC8Xq13.199.94%gene with protein product300269HDACL1, WTS, MRXS6Abnormal facial shape; Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Broad nasal tip; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Deeply set eye; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Emotional lability; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; Gynecomastia; High palate; Highly arched eyebrow; Hypertonia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Malar prominence; Microcephaly; Microcornea; Micrognathia; Micromelia; Microtia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Pes cavus; Pes planus; Phthisis bulbi; Poor speech; Premature birth; Prominent supraorbital ridges; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Synophrys; Tapered finger; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Truncal obesity; Vesicoureteral reflux; Widely spaced teethObesity
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
LAS1LXq1297.62%gene with protein product300964Abnormal facial shape; Brachycephaly; Broad nasal tip; Cryptorchidism; Decreased muscle mass; Decreased testicular size; Deeply set eye; Delayed puberty; Delayed speech and language development; Emotional lability; Global developmental delay; Gynecomastia; Hypogonadism; Hypogonadotrophic hypogonadism; Intellectual disability; Kyphosis; Malar prominence; Microcephaly; Micrognathia; Micropenis; Microtia; Misalignment of teeth; Muscular hypotonia; Pes cavus; Pes planus; Poor speech; Prominent supraorbital ridges; Retrognathia; Short ear; Short foot; Short stature; Small hand; Tapered finger; Thick eyebrow; Thin upper lip vermilion; Truncal obesity; X-linked dominant inheritance; X-linked recessive inheritanceObesity
LAS1LXq1297.62%gene with protein product300964Abnormal facial shape; Brachycephaly; Broad nasal tip; Cryptorchidism; Decreased muscle mass; Decreased testicular size; Deeply set eye; Delayed puberty; Delayed speech and language development; Emotional lability; Global developmental delay; Gynecomastia; Hypogonadism; Hypogonadotrophic hypogonadism; Intellectual disability; Kyphosis; Malar prominence; Microcephaly; Micrognathia; Micropenis; Microtia; Misalignment of teeth; Muscular hypotonia; Pes cavus; Pes planus; Poor speech; Prominent supraorbital ridges; Retrognathia; Short ear; Short foot; Short stature; Small hand; Tapered finger; Thick eyebrow; Thin upper lip vermilion; Truncal obesity; X-linked dominant inheritance; X-linked recessive inheritanceObesity
LEPR1p31.399.99%gene with protein productSusceptibility alleles or functional polymorphisms will not be reported.601007Abnormal hypothalamus morphology; Absence of secondary sex characteristics; Accelerated skeletal maturation; Aggressive behavior; Decreased proportion of CD4-positive T cells; Decreased serum estradiol; Decreased serum leptin; Decreased T cell activation; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Emotional lability; Growth hormone deficiency; Gynecomastia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hypertriglyceridemia; Hypoplasia of the ovary; Immune dysregulation; Insulin-resistant diabetes mellitus; Obesity; Orthostatic hypotension due to autonomic dysfunction; Pituitary hypothyroidism; Polyphagia; Primary amenorrhea; Recurrent upper respiratory tract infectionsObesity
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
MED12Xq13.199.99%gene with protein product300188TNRC11, FGS1Abnormal heart morphology; Abnormality of the genitourinary system; Abnormality of the nasopharynx; Abnormality of the rib cage; Abnormality of the sternum; Abnormally folded helix; Agenesis of corpus callosum; Aggressive behavior; Anal atresia; Anal stenosis; Anteriorly placed anus; Aortic root aneurysm; Aplasia/Hypoplasia of the corpus callosum; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad hallux; Broad thumb; Bulbous nose; Cafe-au-lait spot; Camptodactyly; Choanal atresia; Cleft palate; Cleft upper lip; Clinodactyly; Coarse facial features; Constipation; Cryptorchidism; Decreased body weight; Deep philtrum; Delayed closure of the anterior fontanelle; Dental crowding; Depressed nasal bridge; Disproportionate tall stature; Downslanted palpebral fissures; Emotional lability; Epicanthus; Facial wrinkling; Feeding difficulties; Fine hair; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Heterotopia; High forehead; High palate; High pitched voice; Hydrocephalus; Hyperactivity; Hypertelorism; Hypoplasia of the maxilla; Hypospadias; Impaired social interactions; Inguinal hernia; Intellectual disability; Intestinal malrotation; Joint contracture of the hand; Joint hyperflexibility; Joint hypermobility; Joint laxity; Long face; Long nose; Long philtrum; Low frustration tolerance; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Macroorchidism; Micrognathia; Microtia, first degree; Motor delay; Multiple joint contractures; Muscular hypotonia; Narrow face; Narrow mouth; Narrow nasal bridge; Narrow palate; Nasal speech; Neonatal hypotonia; Neurological speech impairment; Obsessive-compulsive behavior; Open mouth; Partial agenesis of the corpus callosum; Pectus excavatum; Plagiocephaly; Postnatal macrocephaly; Prominent fingertip pads; Prominent forehead; Prominent nasal bridge; Prominent nose; Psychosis; Ptosis; Pyloric stenosis; Radial deviation of finger; Sacral dimple; Scoliosis; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Short neck; Short philtrum; Short stature; Single transverse palmar crease; Skin tags; Smooth philtrum; Sparse hair; Split hand; Strabismus; Syndactyly; Thick lower lip vermilion; Thin upper lip vermilion; Thin vermilion border; Umbilical hernia; Ventricular septal defect; Wide anterior fontanel; Wide mouth; Wide nasal bridge; X-linked recessive inheritance
NDUFA102q37.399.89%gene with protein product603835Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFA1212q22100%gene with protein product614530Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFA25q31.3100%gene with protein product602137Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFA912p13.3100%gene with protein product603834NDUFS2LAbnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFAF25q12.199.69%gene with protein product609653NDUFA12LAbnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF68q22.1100%gene with protein product612392C8orf38Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFS311p11.2100%gene with protein product603846Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS45q11.2100%gene with protein product602694Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS719p13.3100%gene with protein product601825Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFS811q13.2100%gene with protein product602141Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
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
NTRK11q23.1100%gene with protein product191315Acral ulceration and osteomyelitis leading to autoamputation of digits; Anhidrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Corneal scarring; Corneal ulceration; Decreased number of small peripheral myelinated nerve fibers; Dysautonomia; Emotional lability; Episodic fever; Global developmental delay; Hyperactivity; Hypotrichosis of the scalp; Impaired pain sensation; Infantile onset; Intellectual disability; Irritability; Keratitis; Medullary thyroid carcinoma; Nail dysplasia; Nail dystrophy; Neuropathic arthropathy; Opacification of the corneal stroma; Osteomyelitis; Pain insensitivity; Postural hypotension with compensatory tachycardia; Recurrent corneal erosions; Self-injurious behavior; Self-mutilation; Skin ulcerPalmoplantar keratoderma plus congenital ichthyosis
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
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
PGK1Xq21.199.85%gene with protein product311800Ataxia; Delayed speech and language development; Emotional lability; Exercise intolerance; Exercise-induced muscle cramps; Exercise-induced myoglobinuria; Intellectual disability; Migraine; Phenotypic variability; Reticulocytosis; Rhabdomyolysis; Seizures; X-linked recessive inheritanceHemolytic Anemia ; Rhabdomyolysis
PLA2G622q13.1100%gene with protein product603604Abnormal pyramidal signs; Abnormality of metabolism/homeostasis; Abnormality of visual evoked potentials; Aggressive behavior; Ataxia; Autosomal recessive inheritance; Babinski sign; Bradykinesia; Cachexia; Cerebellar atrophy; Cerebral atrophy; Childhood onset; Chorea; Clumsiness; Delayed speech and language development; Depressivity; Developmental regression; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Dystonia; Elevated serum creatine phosphokinase; EMG: chronic denervation signs; Emotional lability; Feeding difficulties; Frontal bossing; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait ataxia; Generalized hypotonia; Generalized muscle weakness; Gliosis; Global brain atrophy; Global developmental delay; Hearing impairment; Hyperactivity; Hyperreflexia; Impaired smooth pursuit; Impulsivity; Infantile onset; Intellectual disability; Intention tremor; Mental deterioration; Micrognathia; Morphological abnormality of the pyramidal tract; Muscular hypotonia; Neurodegeneration; Neurofibrillary tangles; Neuronal loss in central nervous system; Nystagmus; Optic atrophy; Parkinsonism; Personality changes; Phenotypic variability; Postural instability; Progressive; Prominent forehead; Rapidly progressive; Rigidity; Seizures; Short attention span; Short nose; Spastic tetraplegia; Spasticity; Strabismus; Supranuclear gaze palsy; Talipes calcaneovalgus; Tremor; Unsteady gait; Visual impairment; Visual loss
POLG15q26.1100%gene with protein productVariants in the POLG gene that have a possible association with valproate-induced toxicity are not routinely reported by this test, but are available upon request.1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
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
PRKACA19p13.1100%gene with protein product601639Acne; Adrenal hyperplasia; Alopecia; Autosomal dominant inheritance; Bruising susceptibility; Depressivity; Diabetes mellitus; Dorsocervical fat pad; Emotional lability; Fatigue; Fragile skin; Hirsutism; Hypertension; Hypogonadism; Increased body weight; Increased susceptibility to fractures; Moon facies; Muscle weakness; Osteopenia; Osteoporosis; Pigmented micronodular adrenocortical disease; Primary hypercorticolism; Proximal muscle weakness; Short stature; Skeletal muscle atrophy; Slender build; Striae distensae; Thin skin
PRNP20p13100%gene with protein product176640PRIP, GSS, CJDAbdominal symptom; Adult onset; Aggressive behavior; Akinetic mutism; Anxiety; Apathy; Aphasia; Apnea; Apraxia; Areflexia; Astrocytosis; Ataxia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Babinski sign; Basal ganglia gliosis; Bradykinesia; Central nervous system degeneration; Cerebellar atrophy; Childhood onset; Chorea; Clumsiness; Confusion; Constipation; Deficit in phonologic short-term memory; Delusions; Dementia; Depressivity; Diffuse spongiform leukoencephalopathy; Diplopia; Dysarthria; Dysautonomia; Dysmetria; Dysphagia; EEG with persistent abnormal rhythmic activity; Emotional lability; Encephalopathy; Extrapyramidal muscular rigidity; Fever; Focal T2 hyperintense basal ganglia lesion; Gait ataxia; Gliosis; Global brain atrophy; Hallucinations; Hemiparesis; Hyperhidrosis; Hyperreflexia; Hypersomnia; Impaired smooth pursuit; Incoordination; Insomnia; Irritability; Jaw pain; Limb ataxia; Loss of facial expression; Lower limb muscle weakness; Memory impairment; Muscle weakness; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perseveration; Personality changes; Phenotypic variability; Poor visual behavior for age; Progressive cerebellar ataxia; Progressive extrapyramidal muscular rigidity; Progressive forgetfulness; Psychosis; Rapidly progressive; Restlessness; Rigidity; Seizures; Senile plaques; Short attention span; Sleep disturbance; Slurred speech; Spastic dysarthria; Spastic hemiparesis; Spasticity; Specific learning disability; Stroke-like episode; Supranuclear gaze palsy; Tremor; Truncal ataxia; Unsteady gait; Urinary retention; Visual impairment; Weight loss
PRNP20p13100%gene with protein product176640PRIP, GSS, CJDAbdominal symptom; Adult onset; Aggressive behavior; Akinetic mutism; Anxiety; Apathy; Aphasia; Apnea; Apraxia; Areflexia; Astrocytosis; Ataxia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Babinski sign; Basal ganglia gliosis; Bradykinesia; Central nervous system degeneration; Cerebellar atrophy; Childhood onset; Chorea; Clumsiness; Confusion; Constipation; Deficit in phonologic short-term memory; Delusions; Dementia; Depressivity; Diffuse spongiform leukoencephalopathy; Diplopia; Dysarthria; Dysautonomia; Dysmetria; Dysphagia; EEG with persistent abnormal rhythmic activity; Emotional lability; Encephalopathy; Extrapyramidal muscular rigidity; Fever; Focal T2 hyperintense basal ganglia lesion; Gait ataxia; Gliosis; Global brain atrophy; Hallucinations; Hemiparesis; Hyperhidrosis; Hyperreflexia; Hypersomnia; Impaired smooth pursuit; Incoordination; Insomnia; Irritability; Jaw pain; Limb ataxia; Loss of facial expression; Lower limb muscle weakness; Memory impairment; Muscle weakness; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perseveration; Personality changes; Phenotypic variability; Poor visual behavior for age; Progressive cerebellar ataxia; Progressive extrapyramidal muscular rigidity; Progressive forgetfulness; Psychosis; Rapidly progressive; Restlessness; Rigidity; Seizures; Senile plaques; Short attention span; Sleep disturbance; Slurred speech; Spastic dysarthria; Spastic hemiparesis; Spasticity; Specific learning disability; Stroke-like episode; Supranuclear gaze palsy; Tremor; Truncal ataxia; Unsteady gait; Urinary retention; Visual impairment; Weight loss
PRNP20p13100%gene with protein product176640PRIP, GSS, CJDAbdominal symptom; Adult onset; Aggressive behavior; Akinetic mutism; Anxiety; Apathy; Aphasia; Apnea; Apraxia; Areflexia; Astrocytosis; Ataxia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Babinski sign; Basal ganglia gliosis; Bradykinesia; Central nervous system degeneration; Cerebellar atrophy; Childhood onset; Chorea; Clumsiness; Confusion; Constipation; Deficit in phonologic short-term memory; Delusions; Dementia; Depressivity; Diffuse spongiform leukoencephalopathy; Diplopia; Dysarthria; Dysautonomia; Dysmetria; Dysphagia; EEG with persistent abnormal rhythmic activity; Emotional lability; Encephalopathy; Extrapyramidal muscular rigidity; Fever; Focal T2 hyperintense basal ganglia lesion; Gait ataxia; Gliosis; Global brain atrophy; Hallucinations; Hemiparesis; Hyperhidrosis; Hyperreflexia; Hypersomnia; Impaired smooth pursuit; Incoordination; Insomnia; Irritability; Jaw pain; Limb ataxia; Loss of facial expression; Lower limb muscle weakness; Memory impairment; Muscle weakness; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perseveration; Personality changes; Phenotypic variability; Poor visual behavior for age; Progressive cerebellar ataxia; Progressive extrapyramidal muscular rigidity; Progressive forgetfulness; Psychosis; Rapidly progressive; Restlessness; Rigidity; Seizures; Senile plaques; Short attention span; Sleep disturbance; Slurred speech; Spastic dysarthria; Spastic hemiparesis; Spasticity; Specific learning disability; Stroke-like episode; Supranuclear gaze palsy; Tremor; Truncal ataxia; Unsteady gait; Urinary retention; Visual impairment; Weight loss
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
SDHA5p15.33100%gene with protein product600857SDH2Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Adrenal pheochromocytoma; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebral hemorrhage; Chest pain; CNS demyelination; Cognitive impairment; Constipation; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dysarthria; Dysphagia; Dysphonia; Dystonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Emotional lability; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Exercise intolerance; Extraadrenal pheochromocytoma; Failure to thrive; Fatigue; Flexion contracture; Flushing; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hypotonia; Gliosis; Global developmental delay; Glomerulosclerosis; Hepatocellular necrosis; Heterogeneous; Hypercalcemia; Hyperreflexia; Hypertensive retinopathy; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Intestinal obstruction; Lactic acidosis; Left ventricular noncompaction; Leukoencephalopathy; Mitochondrial inheritance; Muscle weakness; Myoclonus; Nausea; Nausea and vomiting; Neonatal hypotonia; Neoplasm of the stomach; Nystagmus; Ophthalmoplegia; Optic atrophy; Palpitations; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Phenotypic variability; Pigmentary retinopathy; Positive regitine blocking test; Progressive; Progressive leukoencephalopathy; Proteinuria; Ptosis; Pulsatile tinnitus; Ragged-red muscle fibers; Recurrent paroxysmal headache; Respiratory failure; Sarcoma; Seizures; Sensorineural hearing impairment; Short stature; Sinus tachycardia; Spasticity; Strabismus; Stress/infection-induced lactic acidosis; Visual impairment; Weight loss
SLC39A48q24.3100%gene with protein product607059AEZAbnormal blistering of the skin; Abnormal eyebrow morphology; Alopecia; Alopecia of scalp; Ataxia; Autosomal recessive inheritance; Blepharitis; Cerebral cortical atrophy; Cheilitis; Chronic diarrhea; Conjunctivitis; Decreased taste sensation; Decreased testicular size; Decreased testosterone in males; Diarrhea; Dry skin; Emotional lability; Erythema; Failure to thrive; Furrowed tongue; Glossitis; Hepatomegaly; Hypogonadism; Impaired T cell function; Infantile onset; Irritability; Lethargy; Low alkaline phosphatase; Malabsorption; Paronychia; Photophobia; Poor appetite; Pustule; Recurrent candida infections; Ridged fingernail; Ridged nail; Short stature; Skin ulcer; Splenomegaly; TremorPalmoplantar keratoderma plus congenital ichthyosis
SLC39A48q24.3100%gene with protein product607059AEZAbnormal blistering of the skin; Abnormal eyebrow morphology; Alopecia; Alopecia of scalp; Ataxia; Autosomal recessive inheritance; Blepharitis; Cerebral cortical atrophy; Cheilitis; Chronic diarrhea; Conjunctivitis; Decreased taste sensation; Decreased testicular size; Decreased testosterone in males; Diarrhea; Dry skin; Emotional lability; Erythema; Failure to thrive; Furrowed tongue; Glossitis; Hepatomegaly; Hypogonadism; Impaired T cell function; Infantile onset; Irritability; Lethargy; Low alkaline phosphatase; Malabsorption; Paronychia; Photophobia; Poor appetite; Pustule; Recurrent candida infections; Ridged fingernail; Ridged nail; Short stature; Skin ulcer; Splenomegaly; TremorPalmoplantar keratoderma plus congenital ichthyosis
SLC6A195p15.3399.97%gene with protein product608893Abnormal urinary color; Abnormality of the eye; Anxiety; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Calcium oxalate nephrolithiasis; Cutaneous photosensitivity; EEG abnormality; Emotional lability; Episodic ataxia; Global developmental delay; Hallucinations; Hydroxyprolinuria; Hyperglycinuria; Hyperreflexia; Hypertonia; Intellectual disability; Malabsorption; Migraine; Muscular hypotonia; Neutral hyperaminoaciduria; Nystagmus; Photophobia; Prolinuria; Psychosis; Seizures; Skin rash; Strabismus
SLC6A195p15.3399.97%gene with protein product608893Abnormal urinary color; Abnormality of the eye; Anxiety; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Calcium oxalate nephrolithiasis; Cutaneous photosensitivity; EEG abnormality; Emotional lability; Episodic ataxia; Global developmental delay; Hallucinations; Hydroxyprolinuria; Hyperglycinuria; Hyperreflexia; Hypertonia; Intellectual disability; Malabsorption; Migraine; Muscular hypotonia; Neutral hyperaminoaciduria; Nystagmus; Photophobia; Prolinuria; Psychosis; Seizures; Skin rash; Strabismus
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
SPART13q13.3100%gene with protein product607111SPG20Ankle clonus; Autosomal recessive inheritance; Babinski sign; Brachydactyly; Camptodactyly; Cerebellar atrophy; Childhood onset; Clinodactyly; Difficulty walking; Distal amyotrophy; Drooling; Dysarthria; Dysmetria; Emotional lability; Global developmental delay; Hammertoe; Hyperextensible hand joints; Hyperplasia of midface; Hyperreflexia; Hypertelorism; Intellectual disability, mild; Knee clonus; Kyphoscoliosis; Lower limb muscle weakness; Motor delay; Pes cavus; Short foot; Short stature; Spastic gait; Spastic paraparesis; Spastic paraplegia; Upper limb spasticity
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
SURF19q34.299.74%gene with protein product185620Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; Axonal loss; CNS demyelination; Difficulty walking; Dysarthria; Dystonia; Easy fatigability; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Horizontal nystagmus; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Kyphoscoliosis; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Peripheral demyelination; Peripheral neuropathy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Slow progression; Spasticity; Strabismus; Variable expressivity
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
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
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