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
Cortical visual impairment

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AMPD21p13.3100%gene with protein product102771Abnormality of the periventricular white matter; Abnormality of the pinna; Autosomal recessive inheritance; Cerebral cortical atrophy; Clonus; Cortical visual impairment; Decreased body weight; Downslanted palpebral fissures; Facial hypotonia; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Macroglossia; Microcephaly; Midface retrusion; Muscular hypotonia of the trunk; Narrow forehead; Optic atrophy; Peripheral axonal neuropathy; Progressive microcephaly; Scissor gait; Seizures; Short stature; Short upper lip; Skeletal muscle atrophy; Spastic paraplegia; Spasticity; Ventriculomegaly
ARHGDIA17q25.3100%gene with protein product601925GDIA1Autosomal recessive inheritance; Chronic kidney disease; Cortical visual impairment; Diffuse mesangial sclerosis; Edema; Hypoalbuminemia; Intellectual disability; Neonatal onset; Nephrotic syndrome; Proteinuria; Rapidly progressive; Sensorineural hearing impairment; Thin glomerular basement membraneNephrotic Syndrome
ASNS7q21.3100%gene with protein product108370Autosomal recessive inheritance; Cerebellar hypoplasia; Cortical dysplasia; Cortical gyral simplification; Cortical visual impairment; Delayed myelination; Encephalopathy; Exaggerated startle response; Failure to thrive; Feeding difficulties; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypsarrhythmia; Large hands; Long foot; Macrotia; Microcephaly; Micrognathia; Muscular hypotonia of the trunk; Profound global developmental delay; Progressive; Progressive microcephaly; Respiratory insufficiency; Seizures; Sloping forehead; Spastic tetraplegia; Ventriculomegaly
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
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
DIAPH15q31.399.74%gene with protein product602121DFNA1Autosomal dominant inheritance; Autosomal recessive inheritance; Childhood onset; Cortical visual impairment; Hypoplasia of the corpus callosum; Low-frequency hearing loss; Microcephaly; Optic atrophy; Poor speech; Progressive hearing impairment; Seizures; Sensorineural hearing impairment; Short stature
DOCK71p31.3100%gene with protein product615730Abnormality of the pinna; Autosomal recessive inheritance; Broad nasal tip; Cortical visual impairment; Epileptic encephalopathy; Global developmental delay; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypsarrhythmia; Infantile onset; Low anterior hairline; Narrow forehead; Periorbital fullness; Short philtrum; Telecanthus; Thick eyebrow; Thick vermilion border
DPM120q13.1399.94%gene with protein product603503Abnormal macular morphology; Abnormality of vision; Ankle contracture; Ataxia; Autosomal recessive inheritance; Camptodactyly; Cortical visual impairment; Depressed nasal bridge; Downslanted palpebral fissures; EEG abnormality; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Failure to thrive; Flat occiput; Generalized hypotonia; Hemangioma; Hepatomegaly; High, narrow palate; Hypertelorism; Infantile onset; Knee flexion contracture; Lower limb hyperreflexia; Microcephaly; Micrognathia; Muscular dystrophy; Muscular hypotonia; Nail dysplasia; Nystagmus; Optic atrophy; Patent ductus arteriosus; Pontocerebellar atrophy; Postnatal microcephaly; Progressive; Prolonged partial thromboplastin time; Reduced antithrombin III activity; Reduced protein C activity; Reduced protein S activity; Respiratory distress; Retinopathy; Seizures; Severe global developmental delay; Short palm; Small hand; Smooth philtrum; Splenomegaly; Strabismus; Telangiectasia; Tremor; Type I transferrin isoform profile; Upper limb undergrowth; Variable expressivityRhabdomyolysis
EMC11p36.13100%gene with protein product616846KIAA0090Anal atresia; Astigmatism; Autosomal recessive inheritance; Cortical visual impairment; Esotropia; Generalized hypotonia; Hypermetropia; Hypoplasia of the corpus callosum; Intellectual disability; Laryngotracheomalacia; Myopia; Optic atrophy; Progressive
GABRB14p12100%gene with protein product137190Ataxia; Autosomal dominant inheritance; Cortical visual impairment; Developmental regression; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile onset; Seizures
GRIN2D19q13.3399.59%gene with protein product602717NMDAR2DAutosomal dominant inheritance; Cortical visual impairment; Dysphagia; Epileptic encephalopathy; Failure to thrive; Feeding difficulties; Global developmental delay; Hypsarrhythmia; Infantile onset; Microcephaly; Muscular hypotonia of the trunk; Pes planus; Seizures
KAT6A8p11.2199.99%gene with protein product601408ZNF220, RUNXBP2, MYST3Abnormality of the dentition; Atrial septal defect; Autosomal dominant inheritance; Broad nasal tip; Cortical visual impairment; Craniosynostosis; Downturned corners of mouth; Epicanthus; Feeding difficulties; Global developmental delay; Intellectual disability; Low-set ears; Microcephaly; Microretrognathia; Muscular hypotonia; Narrow forehead; Neonatal hypotonia; Neonatal respiratory distress; Patent ductus arteriosus; Plagiocephaly; Posteriorly rotated ears; Prominent nasal bridge; Ptosis; Respiratory distress; Strabismus; Thin upper lip vermilion; Ventricular septal defect
KIF5A12q13.3100%gene with protein product602821SPG10Ankle clonus; Athetosis; Autosomal dominant inheritance; Babinski sign; Chorea; Congenital onset; Cortical visual impairment; Delayed myelination; Developmental stagnation; Distal sensory impairment; Dysphagia; Feeding difficulties; Generalized hypotonia; Hyperreflexia; Impaired vibration sensation in the lower limbs; Knee clonus; Lower limb muscle weakness; Microcephaly; Nystagmus; Pes cavus; Phenotypic variability; Progressive; Progressive leukoencephalopathy; Ptosis; Scoliosis; Spastic gait; Spastic paraplegia; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency
NADK25p13.299.99%gene with protein product615787C5orf33, NADKD1Autosomal recessive inheritance; Cerebral atrophy; Choreoathetosis; Cortical visual impairment; Death in infancy; Decreased plasma free carnitine; Dystonia; Encephalopathy; Failure to thrive; Global developmental delay; Hyperlysinemia; Leukodystrophy; Microcephaly; Muscular hypotonia; Neonatal hypotonia; Nystagmus; Seizures; Spasticity; Tetraplegia; Ventriculomegaly
NAGA22q13.2100%gene with protein product104170Abnormal pyramidal signs; Abnormality of brainstem morphology; Abnormality of extrapyramidal motor function; Abnormality of the eye; Adult onset; Aminoaciduria; Angiokeratoma corporis diffusum; Autism; Autosomal recessive inheritance; Axonal degeneration; Cardiomegaly; Cataract; Cerebral atrophy; Coarse facial features; Cognitive impairment; Cortical visual impairment; Depressed nasal bridge; Developmental regression; Distal muscle weakness; Distal sensory impairment; Distal sensory impairment of all modalities; Dry skin; Generalized amyotrophy; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemiplegia/hemiparesis; Hepatomegaly; Hyperkeratosis; Hyperreflexia; Hypertrophic cardiomyopathy; Increased urinary O-linked sialopeptides; Infantile onset; Intellectual disability; Intellectual disability, mild; Intellectual disability, severe; Lip telangiectasia; Lymphedema; Muscle weakness; Muscular hypotonia; Myoclonus; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Osteopenia; Papule; Peripheral axonal neuropathy; Peripheral neuropathy; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus; Subcutaneous nodule; Telangiectasia of the oral mucosa; Telangiectasia of the skin; Thick lower lip vermilion; Thick vermilion border; Tinnitus; Vertigo; White mater abnormalities in the posterior periventricular region
NAGA22q13.2100%gene with protein product104170Abnormal pyramidal signs; Abnormality of brainstem morphology; Abnormality of extrapyramidal motor function; Abnormality of the eye; Adult onset; Aminoaciduria; Angiokeratoma corporis diffusum; Autism; Autosomal recessive inheritance; Axonal degeneration; Cardiomegaly; Cataract; Cerebral atrophy; Coarse facial features; Cognitive impairment; Cortical visual impairment; Depressed nasal bridge; Developmental regression; Distal muscle weakness; Distal sensory impairment; Distal sensory impairment of all modalities; Dry skin; Generalized amyotrophy; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemiplegia/hemiparesis; Hepatomegaly; Hyperkeratosis; Hyperreflexia; Hypertrophic cardiomyopathy; Increased urinary O-linked sialopeptides; Infantile onset; Intellectual disability; Intellectual disability, mild; Intellectual disability, severe; Lip telangiectasia; Lymphedema; Muscle weakness; Muscular hypotonia; Myoclonus; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Osteopenia; Papule; Peripheral axonal neuropathy; Peripheral neuropathy; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus; Subcutaneous nodule; Telangiectasia of the oral mucosa; Telangiectasia of the skin; Thick lower lip vermilion; Thick vermilion border; Tinnitus; Vertigo; White mater abnormalities in the posterior periventricular region
NARS211q14.198.51%gene with protein product612803DFNB94Agenesis of corpus callosum; Autosomal recessive inheritance; Cortical visual impairment; Elevated serum creatine phosphokinase; Facial palsy; Feeding difficulties; Focal segmental glomerulosclerosis; Generalized hypotonia; Gliosis; Increased serum lactate; Microcephaly; Muscular hypotonia; Myopathy; Neurodegeneration; Neuronal loss in central nervous system; Nystagmus; Optic atrophy; Phenotypic variability; Proximal muscle weakness; Ptosis; Skeletal muscle atrophy; Spasticity
PDSS26q2199.94%gene with protein product610564C6orf210Autosomal recessive inheritance; Cortical visual impairment; Edema; Feeding difficulties; Increased serum lactate; Neonatal hypotonia; Nephrotic syndrome; Proteinuria; Status epilepticusNephrotic Syndrome
PIGAXp22.299.91%gene with protein product311770Abnormality of skin morphology; Abnormality of the pons; Absent septum pellucidum; Absent speech; Anteverted nares; Atrial septal defect; Birth length greater than 97th percentile; Bone marrow hypocellularity; Central hypotonia; Cerebellar hypoplasia; Cerebral cortical atrophy; Coarse facial features; Cortical visual impairment; Death in infancy; Delayed myelination; Depressed nasal bridge; Developmental regression; Downturned corners of mouth; Epileptic encephalopathy; Fatigue; Flexion contracture; Generalized myoclonic seizures; Gingival overgrowth; Hearing impairment; Hemolytic anemia; High palate; Hypercoagulability; Hyperreflexia; Hypertelorism; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile spasms; Large fontanelles; Large for gestational age; Macrocephaly; Malar flattening; Microdontia; Micrognathia; Micropenis; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Neuronal loss in central nervous system; Olfactory lobe agenesis; Overfolded helix; Overgrowth; Paroxysmal nocturnal hemoglobinuria; Postnatal microcephaly; Prominent occiput; Short neck; Small nail; Somatic mutation; Thromboembolism; Triangular mouth; Upslanted palpebral fissure; Variable expressivity; Widely spaced teeth; X-linked recessive inheritance
POGZ1q21.3100%gene with protein product614787Abnormal electroretinogram; Abnormality of visual evoked potentials; Astigmatism; Autosomal dominant inheritance; Bilateral sensorineural hearing impairment; Brachycephaly; Brachydactyly; Broad nasal tip; Cerebral atrophy; Constipation; Cortical visual impairment; Depressed nasal bridge; Downturned corners of mouth; Facial hypotonia; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High palate; Hypermetropia; Hypoglycemic seizures; Hypoplasia of the corpus callosum; Intellectual disability; Iris coloboma; Joint laxity; Low-set ears; Mandibular prognathia; Microcephaly; Midface retrusion; Myopia; Open mouth; Optic atrophy; Pointed chin; Posteriorly rotated ears; Rod-cone dystrophy; Self-injurious behavior; Short neck; Short philtrum; Short stature; Strabismus
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
RAB1810p12.199.53%gene with protein product602207Abnormality of retinal pigmentation; Abnormality of visual evoked potentials; Ankle clonus; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Blepharophimosis; Brachycephaly; Cataract; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Clitoral hypoplasia; Congenital cataract; Cortical visual impairment; Cryptorchidism; Decreased testicular size; Delayed puberty; Downturned corners of mouth; Flexion contracture; Generalized hirsutism; Global developmental delay; High palate; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplastic labia minora; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphoscoliosis; Kyphosis; Lissencephaly; Low anterior hairline; Low-set, posteriorly rotated ears; Macrotia; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Muscular hypotonia of the trunk; Narrow palate; Nystagmus; Optic atrophy; Pachygyria; Polymicrogyria; Postnatal growth retardation; Postnatal microcephaly; Scoliosis; Scrotal hypoplasia; Seizures; Shallow anterior chamber; Short nose; Short philtrum; Short stature; Spastic tetraplegia; Spasticity; Ventriculomegaly; Wide nasal bridge
RAB3GAP12q21.399.8%gene with protein product602536Abnormal dermatoglyphics; Abnormal toenail morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of visual evoked potentials; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Brachycephaly; Cataract; Cerebellar hypoplasia; Cerebral atrophy; Cerebral cortical atrophy; Clitoral hypoplasia; Congenital cataract; Cortical visual impairment; Cryptorchidism; Deeply set eye; Delayed puberty; Depressed nasal bridge; Everted lower lip vermilion; External genital hypoplasia; Facial hypertrichosis; Failure to thrive; Feeding difficulties in infancy; Furrowed tongue; Generalized hirsutism; Generalized hypotonia; Global developmental delay; High palate; Hyperlordosis; Hyperreflexia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplastic labia minora; Hypotelorism; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphoscoliosis; Kyphosis; Lissencephaly; Low posterior hairline; Low-set, posteriorly rotated ears; Macrotia; Malar flattening; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Midface retrusion; Misalignment of teeth; Muscular hypotonia; Optic atrophy; Osteoporosis; Pachygyria; Prematurely aged appearance; Ptosis; Scoliosis; Short nose; Short philtrum; Short stature; Spastic diplegia; Spasticity; Ulnar deviation of finger; Wide nasal bridge
RAB3GAP21q4198.48%gene with protein product609275Abnormal dermatoglyphics; Abnormal toenail morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of visual evoked potentials; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Asymmetry of the ears; Autosomal recessive inheritance; Brachycephaly; Broad fingertip; Broad nasal tip; Cardiomyopathy; Cataract; Cerebral cortical atrophy; Clitoral hypoplasia; Congenital cataract; Congestive heart failure; Cortical visual impairment; Cryptorchidism; Delayed puberty; Depressed nasal bridge; Downslanted palpebral fissures; Epicanthus; Everted lower lip vermilion; Feeding difficulties in infancy; Flexion contracture; Furrowed tongue; Generalized hirsutism; Global brain atrophy; Global developmental delay; High palate; Hyperlordosis; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Hypotelorism; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphosis; Lissencephaly; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrotia; Malar flattening; Metatarsus adductus; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Misalignment of teeth; Muscular hypotonia; Muscular hypotonia of the trunk; Optic atrophy; Overlapping toe; Pachygyria; Pectus carinatum; Pectus excavatum; Polymicrogyria; Posteriorly rotated ears; Postnatal growth retardation; Postnatal microcephaly; Prematurely aged appearance; Prominent antitragus; Prominent nasal bridge; Prominent nipples; Recurrent respiratory infections; Scoliosis; Scrotal hypoplasia; Severe global developmental delay; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short philtrum; Short stature; Short toe; Slender ulna; Spasticity; Talipes equinovarus; Talipes valgus; Tracheomalacia; Ulnar deviation of finger; Undetectable visual evoked potentials; Wide nasal bridge
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
SON21q22.11100%gene with protein product182465C21orf50Abnormality of the dentition; Abnormality of the ribs; Arachnoid cyst; Autosomal dominant inheritance; Cerebellar hypoplasia; Cleft palate; Cortical visual impairment; Craniosynostosis; Deeply set eye; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Facial asymmetry; Failure to thrive; Feeding difficulties; Flexion contracture; Frontal bossing; Generalized hypotonia; Global developmental delay; Hemivertebrae; High palate; Horseshoe kidney; Hypermetropia; Hypoplasia of the corpus callosum; Intellectual disability; Joint hypermobility; Kyphosis; Low-set ears; Narrow mouth; Optic atrophy; Scoliosis; Short foot; Short philtrum; Short stature; Small hand; Strabismus; Thin upper lip vermilion; Ventriculomegaly; Wide nasal bridge
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
TBC1D2020p13100%gene with protein product611663C20orf140Abnormality of retinal pigmentation; Abnormality of visual evoked potentials; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Cataract; Cerebellar atrophy; Cerebral cortical atrophy; Clitoral hypoplasia; Congenital cataract; Cortical visual impairment; Cryptorchidism; Decreased muscle mass; Decreased testicular size; Deeply set eye; Delayed puberty; Flexion contracture; Frontoparietal polymicrogyria; Generalized hirsutism; Glaucoma; Global developmental delay; High palate; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplastic labia minora; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphosis; Lissencephaly; Low anterior hairline; Low-set, posteriorly rotated ears; Macrotia; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Narrow mouth; Optic atrophy; Pachygyria; Postnatal microcephaly; Ptosis; Scoliosis; Scrotal hypoplasia; Severe postnatal growth retardation; Short nose; Short philtrum; Short stature; Spastic tetraplegia; Spasticity; Wide nasal bridge
TIMM8AXq22.1100%gene with protein product300356DFN1Abnormal electroretinogram; Abnormal posturing; Blindness; Cerebral calcification; Childhood onset; Constriction of peripheral visual field; Cortical visual impairment; Dementia; Dysarthria; Dysphagia; Dystonia; Generalized amyotrophy; Hyperreflexia; Increased susceptibility to fractures; Infantile sensorineural hearing impairment; Mental deterioration; Myopia; Optic atrophy; Photophobia; Postlingual sensorineural hearing impairment; Progressive sensorineural hearing impairment; Reduced visual acuity; Spasticity; Tremor; Visual impairment; X-linked inheritance; X-linked recessive inheritance
VPS1111q23.3100%gene with protein product608549Absent speech; Autosomal recessive inheritance; Central hypotonia; Cerebellar atrophy; Cerebral hypomyelination; Constipation; Cortical visual impairment; Delayed myelination; Developmental stagnation; Dysautonomia; Flexion contracture; Focal seizures with impairment of consciousness or awareness; Hearing impairment; Hypoplasia of the corpus callosum; Intellectual disability; Muscular hypotonia of the trunk; Neurogenic bladder; Optic atrophy; Poor speech; Postnatal microcephaly; Reduced visual acuity; Severe global developmental delay; Spasticity; Temperature instability; Ventriculomegaly


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