XomeDxSlice Tool

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Phenotypes
Generalized tonic-clonic seizures

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCC811p15.1100%gene with protein product600509SUR, HRINSAbnormal heart morphology; Abnormality of fatty-acid metabolism; Abnormality of the ear; Abnormality of the immune system; Abnormality of the pancreatic islet cells; Anteverted nares; Arthrogryposis multiplex congenita; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Coma; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Diarrhea; Downturned corners of mouth; Drowsiness; Elevated hemoglobin A1c; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperreflexia; Hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Insulin resistance; Intellectual disability; Intrauterine growth retardation; Irritability; Ketoacidosis; Ketonuria; Large for gestational age; Late onset; Lethargy; Limb joint contracture; Long philtrum; Microalbuminuria; Microcephaly; Mild global developmental delay; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal hypoglycemia; Neonatal insulin-dependent diabetes mellitus; Pallor; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Progressive neurologic deterioration; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Spasticity; Strabismus; Tachycardia; Transient neonatal diabetes mellitus; Type II diabetes mellitus; Vitamin B1 deficiency; Vomiting; Weight loss
ADGRV15q14.399.74%gene with protein productFormer name = GPR98602851USH2C, MASS1, GPR98Abnormal electroretinogram; Atonic seizures; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Childhood onset; Congenital sensorineural hearing impairment; Febrile seizures; Generalized tonic seizures; Generalized tonic-clonic seizures; Hemianopia; Heterogeneous; Infantile onset; Iris hypopigmentation; Myopia; Nyctalopia; Rod-cone dystrophy; Scotoma; Sensorineural hearing impairment; Visual loss
ADRA2B2q11.2100%gene with protein product104260ADRA2L1, ADRA2RL1Adult onset; Autosomal dominant inheritance; Blepharospasm; EEG abnormality; EEG with irregular generalized spike and wave complexes; EEG with photoparoxysmal response; Enhancement of the C-reflex; Focal seizures; Generalized seizures; Generalized tonic-clonic seizures; Giant somatosensory evoked potentials; Hand tremor; Jerk-locked premyoclonus spikes; Myoclonus; Nonprogressive; Tremor
AFG3L218p11.2199.9%gene with protein product604581SCA28Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysmetric saccades; Dysphagia; Dystonia; Gait ataxia; Gaze-evoked nystagmus; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Increased intramyocellular lipid droplets; Infantile onset; Limb ataxia; Lower limb hyperreflexia; Muscle weakness; Myoclonus; Oculomotor apraxia; Ophthalmoparesis; Progressive; Ptosis; Sensorimotor neuropathy; Skeletal muscle atrophy; Slow progression; Slow saccadic eye movements; Spastic ataxia; Spastic paraparesis; Spasticity; Variable expressivity
ALDH5A16p22.3100%gene with protein product610045Abnormality of eye movement; Abnormality of metabolism/homeostasis; Absence seizures; Aggressive behavior; Anxiety; Ataxia; Autism; Autosomal recessive inheritance; Behavioral abnormality; Delayed speech and language development; EEG abnormality; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hallucinations; Hyperactivity; Hyperkinesis; Hyporeflexia; Infantile onset; Intellectual disability; Motor delay; Muscular hypotonia; Phenotypic variability; Psychosis; Self-injurious behavior; Status epilepticus
ALDH5A16p22.3100%gene with protein product610045Abnormality of eye movement; Abnormality of metabolism/homeostasis; Absence seizures; Aggressive behavior; Anxiety; Ataxia; Autism; Autosomal recessive inheritance; Behavioral abnormality; Delayed speech and language development; EEG abnormality; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hallucinations; Hyperactivity; Hyperkinesis; Hyporeflexia; Infantile onset; Intellectual disability; Motor delay; Muscular hypotonia; Phenotypic variability; Psychosis; Self-injurious behavior; Status epilepticus
ALDH7A15q23.2100%gene with protein product107323ATQ1Abnormality of metabolism/homeostasis; Abnormality of movement; Autosomal recessive inheritance; Delayed speech and language development; EEG abnormality; Fetal distress; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Intellectual disability; Muscular hypotonia; Neonatal respiratory distress; Neurological speech impairment; Prenatal movement abnormality; Respiratory distress; Status epilepticus
AP3D119p13.398.52%gene with protein product607246Aplasia/Hypoplasia of the macula; Astigmatism; Autosomal recessive inheritance; Cerebral atrophy; Delayed myelination; Dystonia; EEG abnormality; Feeding difficulties; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Hepatomegaly; Hypotelorism; Immunodeficiency; Infantile onset; Interstitial pulmonary abnormality; Low-set ears; Macrotia; Microcephaly; Miosis; Muscular hypotonia of the trunk; Neutropenia; Nystagmus; Ocular albinism; Photophobia; Recurrent respiratory infections; Retrognathia; Smooth philtrum; Splenomegaly; Strabismus; Visual impairmentAlbinism
ATP1A21q23.2100%gene with protein product182340MHP2Abnormality of movement; Aphasia; Apraxia; Ataxia; Autosomal dominant inheritance; Blurred vision; Choreoathetosis; Coma; Confusion; Diplopia; Drowsiness; Dysarthria; Dysphasia; Dystonia; Episodic ataxia; Episodic hemiplegia; Episodic quadriplegia; Fever; Generalized tonic-clonic seizures; Hemiparesis; Hemiplegia; Hemiplegia/hemiparesis; Heterogeneous; Incomplete penetrance; Intellectual disability; Mental deterioration; Migraine with aura; Nystagmus; Seizures; Transient unilateral blurring of vision; Vertigo
ATP6AP2Xp11.499.92%gene with protein product300556ATP6IP2Action tremor; Agraphesthesia; Astereognosia; Autosomal recessive inheritance; Babinski sign; Bradykinesia; Cerebellar atrophy; Cerebral atrophy; Cogwheel rigidity; Delayed speech and language development; Gait disturbance; Generalized tonic-clonic seizures; Hypomimic face; Hypoplasia of the corpus callosum; Hyporeflexia; Infantile onset; Intellectual disability; Motor delay; Parkinsonism; Resting tremor; Slow progression; Variable expressivity; X-linked recessive inheritance
BUB1B15q15.1100%gene with protein product602860Abnormality of vision; Agenesis of corpus callosum; Ambiguous genitalia; Anteverted nares; Ascites; Autosomal recessive inheritance; Bifid scrotum; Brachycephaly; Cataract; Cerebellar hypoplasia; Cerebral hypoplasia; Cleft palate; Combined immunodeficiency; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Depressed nasal bridge; Epicanthus; Feeding difficulties in infancy; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Glaucoma; Global developmental delay; Hereditary nonpolyposis colorectal carcinoma; High forehead; Hydrocephalus; Hypertelorism; Hypodysplasia of the corpus callosum; Hypospadias; Increased nuchal translucency; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Leukemia; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Muscular dystrophy; Neoplasm of the stomach; Nephroblastoma; Nystagmus; Oligohydramnios; Phenotypic variability; Polyhydramnios; Posteriorly rotated ears; Postnatal growth retardation; Premature chromatid separation; Renal cell carcinoma; Renal cyst; Rhabdomyosarcoma; Severe global developmental delay; Short neck; Short nose; Short stature; Short sternum; Small for gestational age; Transitional cell carcinoma of the bladder; Triangular face; Triangular mouth; Upslanted palpebral fissure; Uterine leiomyosarcoma; Ventriculomegaly; Wide nose
CACNA1D3p21.1100%gene with protein product114206CCHL1A2, CACNL1A2Abnormal circulating renin; Athetosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bradycardia; Caesarian section; Cerebral palsy; Cortical visual impairment; Decreased circulating renin level; EMG: impaired neuromuscular transmission; Focal myoclonic seizures; Focal seizures with impairment of consciousness or awareness; Generalized tonic-clonic seizures; Global developmental delay; Hearing impairment; Hyperaldosteronism; Hypertension; Hypokalemia; Intellectual disability, severe; Left ventricular hypertrophy; Metabolic alkalosis; Polydipsia; Pulmonary arterial hypertension; Second degree atrioventricular block; Spastic paraplegia; Ventricular hypertrophy
CACNA1D3p21.1100%gene with protein product114206CCHL1A2, CACNL1A2Abnormal circulating renin; Athetosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bradycardia; Caesarian section; Cerebral palsy; Cortical visual impairment; Decreased circulating renin level; EMG: impaired neuromuscular transmission; Focal myoclonic seizures; Focal seizures with impairment of consciousness or awareness; Generalized tonic-clonic seizures; Global developmental delay; Hearing impairment; Hyperaldosteronism; Hypertension; Hypokalemia; Intellectual disability, severe; Left ventricular hypertrophy; Metabolic alkalosis; Polydipsia; Pulmonary arterial hypertension; Second degree atrioventricular block; Spastic paraplegia; Ventricular hypertrophy
CERS119p13.1195.7%gene with protein product606919LASS1Autosomal recessive inheritance; Dementia; Generalized tonic-clonic seizures; Intellectual disability; Progressive
CHD215q26.1100%gene with protein product602119Abnormal brain FDG positron emission tomography; Abnormality of brainstem morphology; Absence seizures; Aggressive behavior; Ataxia; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Developmental regression; Dysarthria; EEG abnormality; EEG with abnormally slow frequencies; EEG with focal sharp slow waves; EEG with spike-wave complexes (>3.5 Hz); Encephalopathy; Epileptic encephalopathy; Falls; Febrile seizures; Generalized myoclonic seizures; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hyperactivity; Intellectual disability; Mental deterioration; Myoclonic atonic seizures; Myoclonus; Personality disorder; Status epilepticus
CLN88p23.3100%gene with protein product607837EPMR, C8orf61Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Clumsiness; Curvilinear intracellular accumulation of autofluorescent lipopigment storage material; Delayed speech and language development; Developmental regression; EEG abnormality; Focal seizures with impairment of consciousness or awareness; Generalized tonic-clonic seizures; Increased neuronal autofluorescent lipopigment; Intellectual disability; Irritability; Mental deterioration; Myoclonus; Progressive visual loss; Psychosis; Restlessness; Seizures; Slow progression
CLN88p23.3100%gene with protein product607837EPMR, C8orf61Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Clumsiness; Curvilinear intracellular accumulation of autofluorescent lipopigment storage material; Delayed speech and language development; Developmental regression; EEG abnormality; Focal seizures with impairment of consciousness or awareness; Generalized tonic-clonic seizures; Increased neuronal autofluorescent lipopigment; Intellectual disability; Irritability; Mental deterioration; Myoclonus; Progressive visual loss; Psychosis; Restlessness; Seizures; Slow progression
CNTN21q32.1100%gene with protein product190197TAX, AXTAutosomal recessive inheritance; EEG abnormality; Focal seizures; Generalized seizures; Generalized tonic-clonic seizures; Hand tremor; Myoclonus; Seizures; Tremor
COL4A3BP5q13.3100%gene with protein product6046772-3 toe syndactyly; Anteverted nares; Autosomal dominant inheritance; Bilateral ptosis; Broad-based gait; Bruxism; Coarse hair; Cortical visual impairment; Curly hair; Drooling; Epicanthus; Generalized tonic-clonic seizures; Global developmental delay; Hearing impairment; Intellectual disability; Muscular hypotonia of the trunk; Myopathic facies; Oligohydramnios; Postnatal microcephaly; Short foot; Smooth philtrum; Stereotypy; Synophrys; Upslanted palpebral fissure; Wide intermamillary distance; Widely spaced teeth
CPA68q13.299.73%gene with protein product609562Autosomal dominant inheritance; Autosomal recessive inheritance; Febrile seizures; Generalized tonic-clonic seizures; Seizures
CSTB21q22.399.93%gene with protein productXomeDxSlice is not appropriate.601145EPM1, STFBAbsence seizures; Ataxia; Autosomal recessive inheritance; Dysarthria; EEG with polyspike wave complexes; Generalized tonic-clonic seizures; Intention tremor; Limb ataxia; Mental deterioration; Morning myoclonic jerks; Myoclonus
DNM19q34.11100%gene with protein product602377DNMAbnormality of brainstem morphology; Absent speech; Aggressive behavior; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Developmental regression; Difficulty walking; EEG with focal sharp slow waves; Encephalopathy; Epileptic encephalopathy; Falls; Generalized hypotonia; Generalized tonic seizures; Generalized tonic-clonic seizures; Hyperactivity; Inability to walk; Intellectual disability; Mental deterioration; Myoclonus; Personality disorder; Seizures
EFHC16p12.2100%gene with protein product608815EJM1, EJMAbnormality of eye movement; Abnormality of the mouth; EEG with polyspike wave complexes; Generalized tonic-clonic seizures
GABRB315q12100%gene with protein product137192Abnormality of brainstem morphology; Aggressive behavior; Ataxia; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Dyskinesia; EEG with focal sharp slow waves; Encephalopathy; Epileptic encephalopathy; Falls; Generalized hypotonia; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hyperactivity; Infantile onset; Intellectual disability; Mental deterioration; Myoclonus; Personality disorder; Seizures
GABRG25q34100%gene with protein product137164Absence seizures; Ataxia; Atonic seizures; Autosomal dominant inheritance; Cutaneous photosensitivity; EEG abnormality; Febrile seizures; Focal clonic seizures; Focal seizures; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Muscular hypotonia; Neurodevelopmental delay; Obtundation status; Pschomotor retardation; Tremor; Variable expressivity
GCK7p13100%gene with protein product138079MODY2Abnormal C-peptide level; Abnormal heart morphology; Abnormality of the ear; Abnormality of the immune system; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Downturned corners of mouth; Failure to thrive; Fasting hyperinsulinemia; Fatigue; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hand tremor; Heterogeneous; Hyperglycemia; Hyperinsulinemic hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Insulin resistance; Intellectual disability; Intrauterine growth retardation; Ketoacidosis; Ketonuria; Late onset; Limb joint contracture; Long philtrum; Maturity-onset diabetes of the young; Microalbuminuria; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal insulin-dependent diabetes mellitus; Peripheral neuropathy; Prominent metopic ridge; Ptosis; Radial deviation of finger; Recurrent hypoglycemia; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Type II diabetes mellitus; Weight loss
GPHN14q23.399.96%gene with protein product603930Apnea; Aspiration; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Esophagitis; Exaggerated startle response; Fasciculations; Feeding difficulties; Frequent falls; Gait disturbance; Gastroesophageal reflux; Generalized tonic-clonic seizures; Hiatus hernia; Hip dislocation; Hyperreflexia; Hypertonia; Hypokinesia; Infantile onset; Inguinal hernia; Joint stiffness; Molybdenum cofactor deficiency; Muscle stiffness; Muscular hypotonia of the trunk; Myoclonus; Polymicrogyria; Poor eye contact; Poor head control; Rigidity; Seizures; Sleep disturbance; Spasticity; Spontaneous abortion; Umbilical hernia
GPT216q11.2100%gene with protein product138210Absent speech; Autosomal recessive inheritance; Drooling; Dysarthria; Encephalopathy; Failure to thrive; Generalized hypotonia; Generalized tonic-clonic seizures; Global developmental delay; Hyperreflexia; Intellectual disability; Postnatal microcephaly; Progressive
GYS119q13.33100%gene with protein product138570GYSAutosomal recessive inheritance; Cardiomyopathy; Decreased muscle glycogen content; Exercise intolerance; Generalized tonic-clonic seizures; Left ventricular hypertrophyRhabdomyolysis
HNRNPU1q4499.91%gene with protein product602869HNRPU, HNRNPU-AS1, C1orf199, NCRNA00201Abnormal cardiac septum morphology; Agenesis of corpus callosum; Autosomal dominant inheritance; Delayed myelination; Delayed speech and language development; EEG abnormality; Epicanthus; Epileptic encephalopathy; Generalized hypotonia; Generalized tonic-clonic seizures; Global developmental delay; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, severe; Microcephaly; Micrognathia; Muscular hypotonia; Seizures; Short stature; Smooth philtrum; Strabismus; Telecanthus; Thin vermilion border; Upslanted palpebral fissure; Ventriculomegaly
INS11p15.5100%gene with protein product176730IDDM2, IDDM1Abnormal heart morphology; Abnormality of the ear; Abnormality of the immune system; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Downturned corners of mouth; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hyperglycemia; Hypovolemia; Hypsarrhythmia; Intrauterine growth retardation; Ketoacidosis; Ketonuria; Limb joint contracture; Long philtrum; Maturity-onset diabetes of the young; Microalbuminuria; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal insulin-dependent diabetes mellitus; Peripheral neuropathy; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Type I diabetes mellitus; Weight lossDisorders of Sex Development; Obesity
KCNJ1111p15.1100%gene with protein product600937Abnormal heart morphology; Abnormality of fatty-acid metabolism; Abnormality of the ear; Abnormality of the immune system; Abnormality of the pancreatic islet cells; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Coma; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Diarrhea; Downturned corners of mouth; Elevated hemoglobin A1c; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hypoglycemia; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Intellectual disability; Intrauterine growth retardation; Ketoacidosis; Ketonuria; Large for gestational age; Lethargy; Limb joint contracture; Long philtrum; Maternal diabetes; Maturity-onset diabetes of the young; Microalbuminuria; Microcephaly; Mild global developmental delay; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal hypoglycemia; Neonatal insulin-dependent diabetes mellitus; Pallor; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Progressive neurologic deterioration; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Tachycardia; Transient neonatal diabetes mellitus; Vitamin B1 deficiency; Vomiting; Weight loss
KCNMA110q22.399.99%gene with protein product600150SLOAbsence seizures; Autosomal dominant inheritance; EEG with spike-wave complexes (>3.5 Hz); Generalized tonic-clonic seizures; Paroxysmal dyskinesia
KCNQ220q13.33100%gene with protein product602235EBN, EBN1Abnormal globus pallidus morphology; Abnormality of vision; Apnea; Autosomal dominant inheritance; Cerebral edema; Choreoathetosis; Deeply set eye; Dysesthesia; Dyskinesia; Dystonia; EEG with burst suppression; Epileptic encephalopathy; Epileptic spasms; Facial erythema; Feeding difficulties; Focal clonic seizures; Generalized hypotonia; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Heterogeneous; Hypertonia; Inability to walk; Infantile onset; Intellectual disability; Muscular hypotonia; Myoclonus; Myokymia; Neonatal onset; Pallor; Phenotypic variability; Poor gross motor coordination; Profound global developmental delay; Reduced consciousness/confusion; Seizures; Spastic tetraparesis
KCNQ38q24.22100%gene with protein product602232EBN2Abnormality of vision; Autosomal dominant inheritance; Choreoathetosis; Deeply set eye; Dysesthesia; Dyskinesia; Focal clonic seizures; Generalized tonic-clonic seizures; Hypertonia; Muscular hypotonia; Myoclonus; Reduced consciousness/confusion; Seizures
MAPK104q21.3100%gene with protein product602897PRKM10Abnormality of brainstem morphology; Aggressive behavior; Atonic seizures; Atypical absence seizures; Autistic behavior; EEG with focal sharp slow waves; Encephalopathy; Falls; Generalized tonic seizures; Generalized tonic-clonic seizures; Hyperactivity; Intellectual disability; Mental deterioration; Myoclonus; Personality disorder
NIPA115q11.299.93%gene with protein product608145SPG6Autosomal dominant inheritance; Babinski sign; Clonus; Degeneration of the lateral corticospinal tracts; Gait disturbance; Generalized tonic-clonic seizures; Impaired vibration sensation in the lower limbs; Impaired vibratory sensation; Insidious onset; Limitation of movement at ankles; Limited hip movement; Lower limb hyperreflexia; Lower limb muscle weakness; Lower limb spasticity; Pes cavus; Progressive; Seizures; Skeletal muscle atrophy; Spastic gait; Spastic paraplegia; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency; Variable expressivity
PCDH19Xq22.199.99%gene with protein product300460EFMRAbsence seizures; Aggressive behavior; Ataxia; Atonic seizures; Cutaneous photosensitivity; EEG abnormality; Febrile seizures; Focal clonic seizures; Focal seizures; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Infantile onset; Intellectual disability; Muscular hypotonia; Neurodevelopmental delay; Obtundation status; Pschomotor retardation; Psychosis; Status epilepticus; Tremor; X-linked inheritance
PDX113q12.2100%gene with protein product600733IPF1Abnormal heart morphology; Abnormality of the ear; Abnormality of the immune system; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Downturned corners of mouth; Exocrine pancreatic insufficiency; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hyperglycemia; Hypovolemia; Hypsarrhythmia; Intrauterine growth retardation; Ketoacidosis; Ketonuria; Limb joint contracture; Long philtrum; Maturity-onset diabetes of the young; Microalbuminuria; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal insulin-dependent diabetes mellitus; Pancreatic hypoplasia; Peripheral neuropathy; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Type II diabetes mellitus; Weight lossObesity
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
PSAP10q22.199.99%gene with protein product176801SAP1, GLBAAbnormality of eye movement; Abnormality of glycosphingolipid metabolism; Abnormality of the periventricular white matter; Anemia; Autosomal recessive inheritance; Babinski sign; Central apnea; Cerebral dysmyelination; CNS demyelination; Congenital onset; Death in childhood; Death in infancy; Decreased nerve conduction velocity; Developmental regression; Dysarthria; Dysphagia; Dystonia; Erlenmeyer flask deformity of the femurs; Fasciculations; Feeding difficulties; Gait ataxia; Generalized clonic seizures; Generalized hypotonia; Generalized tonic-clonic seizures; Global brain atrophy; Global developmental delay; Hepatomegaly; Hepatosplenomegaly; Hyperkinesis; Hyperreflexia; Hypertonia; Hypoplasia of the corpus callosum; Hyporeflexia; Increased cerebral lipofuscin; Increased CSF protein; Infantile onset; Loss of speech; Mental deterioration; Muscle weakness; Muscular hypotonia; Myoclonus; Neuronal loss in central nervous system; Osteopenia; Peripheral demyelination; Polyneuropathy; Recurrent respiratory infections; Respiratory failure; Respiratory insufficiency; Seizures; Spastic tetraparesis; Splenomegaly; Thrombocytopenia; Urinary incontinence; Variable expressivity
SCN1A2q24.3100%gene with protein product182389SCN1, FEB3Abnormality of brainstem morphology; Abnormality of movement; Absence seizures; Aggressive behavior; Ataxia; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Blindness; Cerebral atrophy; Childhood onset; Cortical visual impairment; Cutaneous photosensitivity; EEG abnormality; EEG with focal sharp slow waves; Encephalopathy; Epileptic encephalopathy; Falls; Febrile seizures; Focal clonic seizures; Focal seizures with impairment of consciousness or awareness; Generalized myoclonic seizures; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hemiclonic seizures; Hemiparesis; Hemiplegia; Hemiplegia/hemiparesis; Hyperactivity; Incomplete penetrance; Infantile onset; Intellectual disability; Mental deterioration; Migraine with aura; Motor delay; Muscular hypotonia; Myoclonus; Neurodevelopmental delay; Nystagmus; Obtundation status; Personality disorder; Photophobia; Postnatal microcephaly; Pschomotor retardation; Seizures; Status epilepticus; Tremor; Variable expressivity
SCN1A2q24.3100%gene with protein product182389SCN1, FEB3Abnormality of brainstem morphology; Abnormality of movement; Absence seizures; Aggressive behavior; Ataxia; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Blindness; Cerebral atrophy; Childhood onset; Cortical visual impairment; Cutaneous photosensitivity; EEG abnormality; EEG with focal sharp slow waves; Encephalopathy; Epileptic encephalopathy; Falls; Febrile seizures; Focal clonic seizures; Focal seizures with impairment of consciousness or awareness; Generalized myoclonic seizures; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hemiclonic seizures; Hemiparesis; Hemiplegia; Hemiplegia/hemiparesis; Hyperactivity; Incomplete penetrance; Infantile onset; Intellectual disability; Mental deterioration; Migraine with aura; Motor delay; Muscular hypotonia; Myoclonus; Neurodevelopmental delay; Nystagmus; Obtundation status; Personality disorder; Photophobia; Postnatal microcephaly; Pschomotor retardation; Seizures; Status epilepticus; Tremor; Variable expressivity
SCN1A2q24.3100%gene with protein product182389SCN1, FEB3Abnormality of brainstem morphology; Abnormality of movement; Absence seizures; Aggressive behavior; Ataxia; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Blindness; Cerebral atrophy; Childhood onset; Cortical visual impairment; Cutaneous photosensitivity; EEG abnormality; EEG with focal sharp slow waves; Encephalopathy; Epileptic encephalopathy; Falls; Febrile seizures; Focal clonic seizures; Focal seizures with impairment of consciousness or awareness; Generalized myoclonic seizures; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hemiclonic seizures; Hemiparesis; Hemiplegia; Hemiplegia/hemiparesis; Hyperactivity; Incomplete penetrance; Infantile onset; Intellectual disability; Mental deterioration; Migraine with aura; Motor delay; Muscular hypotonia; Myoclonus; Neurodevelopmental delay; Nystagmus; Obtundation status; Personality disorder; Photophobia; Postnatal microcephaly; Pschomotor retardation; Seizures; Status epilepticus; Tremor; Variable expressivity
SCN1B19q13.1199.26%gene with protein product600235Abnormal pyramidal signs; Absence seizures; Arrhythmia; Ataxia; Atonic seizures; Atypical absence seizures; Autosomal dominant inheritance; Autosomal recessive inheritance; Bundle branch block; Cutaneous photosensitivity; EEG abnormality; Epileptic encephalopathy; Febrile seizures; Focal clonic seizures; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hemiclonic seizures; Incomplete penetrance; Limb ataxia; Muscular hypotonia; Neurodevelopmental delay; Obtundation status; Paroxysmal atrial fibrillation; Pschomotor retardation; Spasticity; ST segment elevation; Tremor; Ventricular fibrillation
SCN2A2q24.399.9%gene with protein product182390SCN2A1, SCN2A2Abnormality of skin morphology; Abnormality of vision; Ataxia; Autosomal dominant inheritance; Choreoathetosis; Cutaneous photosensitivity; Cyanosis; Deeply set eye; Developmental regression; Dialeptic seizures; Dysesthesia; Dyskinesia; EEG abnormality; Epileptic encephalopathy; Febrile seizures; Focal clonic seizures; Focal seizures; Focal seizures, afebril; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Generalized tonic-clonic seizures with focal onset; Global developmental delay; Hypertonia; Hypsarrhythmia; Infantile onset; Infantile spasms; Muscular hypotonia; Myoclonus; Neurodevelopmental delay; Normal interictal EEG; Obtundation status; Pschomotor retardation; Reduced consciousness/confusion; Seizures; Spastic tetraplegia; Status epilepticus; Tremor; Variable expressivity
SCN8A12q13.1399.99%gene with protein product600702MEDAbnormality of vision; Ataxia; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Choreoathetosis; Cognitive impairment; Deeply set eye; Developmental regression; Dysesthesia; Dyskinesia; Epileptic encephalopathy; Epileptic spasms; Focal seizures; Generalized hypotonia; Generalized seizures; Generalized tonic-clonic seizures; Global developmental delay; Hypertonia; Intellectual disability; Microcephaly; Migraine; Muscular hypotonia; Myoclonus; Normal interictal EEG; Paroxysmal choreoathetosis; Paroxysmal dyskinesia; Progressive microcephaly; Reduced consciousness/confusion; Seizures
SCN9A2q24.399.99%gene with protein product603415Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Abnormality of the musculature; Absence seizures; Acral ulceration leading to autoamputation of digits; Anal pain; Anhidrosis; Anosmia; Areflexia; Ataxia; Atonic seizures; Autosomal dominant inheritance; Autosomal recessive inheritance; Blurred vision; Bradycardia; Constipation; Cutaneous photosensitivity; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Diarrhea; Dysautonomia; Dystrophic fingernails; Dystrophic toenail; EEG abnormality; Episodic hyperhidrosis; Erythema; Febrile seizures; Feeding difficulties in infancy; Focal clonic seizures; Focal seizures; Foot acroosteolysis; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Hyperhidrosis; Hyperlordosis; Hypohidrosis; Hyporeflexia; Hyposmia; Impaired pain sensation; Infantile onset; Jaw pain; Juvenile onset; Keratoconjunctivitis sicca; Lacrimation abnormality; Mandibular pain; Muscular hypotonia; Myalgia; Neonatal onset; Neurodevelopmental delay; Obtundation status; Ocular pain; Osteolytic defects of the phalanges of the hand; Pain insensitivity; Painless fractures due to injury; Palpitations; Paronychia; Peripheral neuropathy; Pruritus; Pschomotor retardation; Reduced bone mineral density; Seizures; Skeletal muscle atrophy; Slow progression; Tachycardia; Tapered finger; Tremor; Urinary incontinence; Variable expressivity; Wormian bones; Xerostomia
SIK121q22.3100%gene with protein product605705SNF1LKAbnormality of skin morphology; Absent speech; Autosomal dominant inheritance; Developmental regression; Dysphagia; Epileptic encephalopathy; Eyelid myoclonias; Feeding difficulties; Focal tonic seizures; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hyperreflexia; Hypsarrhythmia; Infantile spasms; Lethargy; Muscular hypotonia; Myoclonus; Poor suck; Recurrent respiratory infections; Respiratory distress
ST3GAL52p11.2100%gene with protein product604402SIAT9Absent speech; Autosomal recessive inheritance; Choreoathetosis; Cortical visual impairment; Developmental regression; Developmental stagnation at onset of seizures; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Generalized tonic-clonic seizures; Global brain atrophy; Global developmental delay; Hypermelanotic macule; Hyporeflexia of upper limbs; Irritability; Lower limb hyperreflexia; Myoclonus; Optic atrophy; Status epilepticus; Visual loss; Vomiting
STAT317q21.2100%gene with protein product102582Abnormal heart morphology; Abnormality of the hair; Arthrogryposis multiplex congenita; Atelectasis; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Bilateral ptosis; Celiac disease; Chronic otitis media; Cleft palate; Coarse facial features; Contractures of the joints of the lower limbs; Cough; Decreased antibody level in blood; Deeply set eye; Dehydration; Delayed eruption of teeth; Downturned corners of mouth; Dystrophic fingernails; Eczema; Eczematoid dermatitis; Eosinophilia; Failure to thrive; Frontal bossing; Generalized abnormality of skin; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Gingivitis; Global developmental delay; Glycosuria; High palate; Hyperglycemia; Hypertelorism; Hypovolemia; Increased IgE level; Infantile onset; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Ketonuria; Microalbuminuria; Motor delay; Neonatal insulin-dependent diabetes mellitus; Osteopenia; Papule; Paronychia; Persistence of primary teeth; Prominent forehead; Prominent metopic ridge; Pruritus; Recurrent fractures; Recurrent fungal infections; Recurrent respiratory infections; Recurrent sinopulmonary infections; Recurrent Staphylococcus aureus infections; Reduced pancreatic beta cells; Retinopathy; Scoliosis; Short stature; Skin rash; Skin ulcer; Weight loss; Wide nasal bridge; Wide noseAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
STX1B16p11.299.84%gene with protein product601485STX1B1, STX1B2Absence seizures; Atonic seizures; Autosomal dominant inheritance; Febrile seizures; Focal seizures with impairment of consciousness or awareness; Generalized tonic-clonic seizures; Variable expressivity
STXBP19q34.11100%gene with protein product602926Abnormality of movement; Abnormality of skin morphology; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal dominant inheritance; Camptodactyly of finger; Cerebral atrophy; Cerebral cortical atrophy; Cerebral hypomyelination; Clinodactyly of the 5th finger; Cutaneous photosensitivity; Developmental regression; EEG abnormality; EEG with burst suppression; Epileptic encephalopathy; Epileptic spasms; Febrile seizures; Fine hair; Focal clonic seizures; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic seizures; Generalized tonic-clonic seizures; Hearing impairment; Hypoplasia of the corpus callosum; Hypsarrhythmia; Impaired horizontal smooth pursuit; Infantile encephalopathy; Infantile spasms; Intellectual disability; Intellectual disability, severe; Long philtrum; Microcephaly; Muscular hypotonia; Myoclonus; Neonatal onset; Nephrolithiasis; Neurodevelopmental delay; Obtundation status; Pschomotor retardation; Seizures; Severe global developmental delay; Spastic paraplegia; Spastic tetraplegia; Spasticity; Status epilepticus; Thick vermilion border; Tremor; Underdeveloped nasal alae; Variable expressivity; Ventriculomegaly; Wide mouth; Wide nose


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