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
Status epilepticus

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
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
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
AMACR5p13.2100%gene with protein product604489Abnormality of the coagulation cascade; Autosomal recessive inheritance; Biliary tract abnormality; Cholestasis; Depressivity; Elevated hepatic transaminases; Failure to thrive; Fat malabsorption; Giant cell hepatitis; Hepatic failure; Hepatomegaly; Hyperbilirubinemia; Hypergonadotropic hypogonadism; Intrahepatic cholestasis; Migraine; Neonatal onset; Peripheral neuropathy; Phenotypic variability; Pigmentary retinopathy; Prolonged neonatal jaundice; Sensorimotor neuropathy; Spasticity; Status epilepticus; Type II diabetes mellitus; Visual impairment
ARV11q42.2100%gene with protein product611647Ataxia; Autosomal recessive inheritance; Dystonia; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Infantile onset; Intellectual disability, profound; Status epilepticus
ARXXp21.399.72%gene with protein product300382MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87Abnormal hair pattern; Abnormality of skin morphology; Abnormality of the hip bone; Abnormally large globe; Agenesis of corpus callosum; Ambiguous genitalia; Broad alveolar ridges; Choreoathetosis; Coarse facial features; Cryptorchidism; Death in infancy; Decreased testicular size; Delayed speech and language development; Developmental regression; Diarrhea; Duane anomaly; Dysarthria; Dysphagia; Dyspnea; Dystonia; EEG abnormality; Epileptic encephalopathy; Feeding difficulties in infancy; Flexion contracture; Focal dystonia; Generalized hirsutism; Generalized hypotonia; Generalized myoclonic seizures; Gliosis; Global developmental delay; Hemiplegia; High forehead; High palate; Hirsutism; Hyperconvex nail; Hyperreflexia; Hypohidrosis; Hypoplasia of penis; Hypospadias; Hypsarrhythmia; Infantile spasms; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Limb dystonia; Limb joint contracture; Lissencephaly; Long philtrum; Long upper lip; Low anterior hairline; Low-set ears; Lower limb spasticity; Malabsorption; Microcephaly; Micrognathia; Micropenis; Muscle stiffness; Muscular hypotonia; Muscular hypotonia of the trunk; Myoclonus; Neonatal hypotonia; Nystagmus; Optic atrophy; Overlapping toe; Pachygyria; Profound global developmental delay; Prominent nasal bridge; Prominent supraorbital ridges; Protruding ear; Renal dysplasia; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short stature; Spastic tetraplegia; Spasticity; Specific learning disability; Status epilepticus; Strabismus; Synophrys; Tapered finger; Tetraplegia; Thin upper lip vermilion; Triangular face; Ventriculomegaly; Visual impairment; Wide anterior fontanel; Wide nasal bridge; X-linked inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
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
ATP6V0A212q24.31100%gene with protein product611716Abnormal apolipoprotein level; Abnormal isoelectric focusing of serum transferrin; Abnormal subcutaneous fat tissue distribution; Abnormality of the cheek; Anteverted nares; Atrial septal dilatation; Autosomal recessive inheritance; Broad nasal tip; Carious teeth; Cerebellar hypoplasia; Coarse hair; Congenital hip dislocation; Coxa vara; Cryptorchidism; Cutis laxa; Dandy-Walker malformation; Decreased muscle mass; Deep palmar crease; Deep plantar creases; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dementia; Downslanted palpebral fissures; Epicanthus; Excessive skin wrinkling on dorsum of hands and fingers; Excessive wrinkled skin; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Fragile nails; Fragmented elastic fibers in the dermis; Frontal bossing; Generalized hypotonia; Generalized joint laxity; Global developmental delay; High myopia; High nonceruloplasmin-bound serum copper; High palate; Hypertelorism; Hypoplasia of the musculature; Infantile muscular hypotonia; Inguinal hernia; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Joint hypermobility; Kyphoscoliosis; Kyphosis; Lipodystrophy; Lissencephaly; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Microdontia; Midface retrusion; Motor delay; Multiple palmar creases; Multiple plantar creases; Muscular hypotonia; Myopia; Narrow mouth; Nasal speech; Neonatal wrinkled skin of hands and feet; Osteopenia; Pachygyria; Palmoplantar cutis laxa; Pectus excavatum; Pes planus; Polymicrogyria; Poor speech; Postnatal growth retardation; Premature rupture of membranes; Progressive cerebellar ataxia; Progressive microcephaly; Prominent nasolabial fold; Prominent veins on trunk; Psychomotor deterioration; Recurrent sinopulmonary infections; Redundant neck skin; Redundant skin; Scapular winging; Scoliosis; Seizures; Short nail; Short nose; Short stature; Slender long bone; Slender long bones with narrow diaphyses; Slurred speech; Small, conical teeth; Smooth philtrum; Sparse hair; Spasticity; Status epilepticus; Strabismus; Subretinal pigment epithelium hemorrhage; Talipes equinovarus; Thick cerebral cortex; Thick hair; Umbilical hernia; Wide anterior fontanel; Wide nasal bridge; Wormian bones
CAD2p23.3100%gene with protein product114010Acanthocytosis; Anemia; Anisopoikilocytosis; Autosomal recessive inheritance; Broad-based gait; Developmental regression; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Hyperammonemia; Infantile onset; Poor speech; Progressive; Renal tubular acidosis; Schistocytosis; Status epilepticusEctodermal Dysplasia ; Rhabdomyolysis
CARS213q3499.98%gene with protein product612800Areflexia; Autosomal recessive inheritance; Cerebral atrophy; Chorea; Dystonia; Epileptic encephalopathy; Failure to thrive; Feeding difficulties; Global developmental delay; Hypoplasia of the corpus callosum; Microvesicular hepatic steatosis; Myoclonus; Opisthotonus; Postnatal microcephaly; Severe muscular hypotonia; Status epilepticus
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
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
COG816q22.1100%gene with protein product606979Alternating esotropia; Autosomal recessive inheritance; Cerebellar atrophy; Elevated serum creatine phosphokinase; Elevated serum transaminases during infections; Encephalopathy; Intellectual disability; Muscular hypotonia; Status epilepticus; Ventriculomegaly
CTSD11p15.5100%gene with protein product116840CPSDAbnormality of metabolism/homeostasis; Apnea; Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Congenital onset; Increased neuronal autofluorescent lipopigment; Intellectual disability, progressive; Intellectual disability, severe; Low-set ears; Mental deterioration; Microcephaly; Neuronal loss in central nervous system; Premature closure of fontanelles; Respiratory failure; Retinal atrophy; Rigidity; Rod-cone dystrophy; Sloping forehead; Spasticity; Status epilepticus; Visual loss; Wide nasal bridge
DEAF111p15.5100%gene with protein product602635Abnormal form of the vertebral bodies; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Absent speech; Aggressive behavior; Agitation; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Brachydactyly; Broad forehead; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; Dyskinesia; EEG abnormality; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hoarse voice; Horizontal eyebrow; Hyperacusis; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Infantile onset; Intellectual disability; Involuntary movements; Large face; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Mood swings; Muscular hypotonia; Myopia; Neurological speech impairment; Obesity; Open mouth; Pes planus; Poor eye contact; Recurrent infections; Scoliosis; Self-injurious behavior; Short nose; Short philtrum; Short stature; Sleep disturbance; Status epilepticus; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Thick lower lip vermilion; Toe syndactyly; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge
DHCR241p32.3100%gene with protein product606418DCEAbsent septum pellucidum; Agenesis of corpus callosum; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Bifid uvula; Depressed nasal bridge; Failure to thrive; Feeding difficulties; Hydrocephalus; Intellectual disability; Intrauterine growth retardation; Large earlobe; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Muscle stiffness; Narrow mouth; Nystagmus; Partial agenesis of the corpus callosum; Phenotypic variability; Relative macrocephaly; Retrognathia; Rigidity; Seizures; Severe short stature; Short nose; Spasticity; Status epilepticus; Strabismus; Submucous cleft hard palate; VentriculomegalyDisorders of Sex Development
ECE11p36.12100%gene with protein product600423ECEAbdominal pain; Aganglionic megacolon; Agitation; Atrial septal defect; Autosomal dominant inheritance; Bulbous nose; Constipation; Contractures of the interphalangeal joint of the thumb; Cupped ear; Dysautonomia; Hyperconvex nail; Hypertension; Intestinal obstruction; Micropenis; Nausea and vomiting; Patent ductus arteriosus; Posteriorly rotated ears; Prominent nasal bridge; Short nose; Status epilepticus; Tachycardia; Tapered finger; Ventricular septal defect; Weight loss
EHMT19q34.399.84%gene with protein product607001EHMT1-IT1Abnormal cardiac septum morphology; Abnormality of the pinna; Absence seizures; Aggressive behavior; Anteverted nares; Aphasia; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Coarse facial features; Cryptorchidism; Delayed speech and language development; Downturned corners of mouth; Dysphasia; Echolalia; Epileptic spasms; Everted lower lip vermilion; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Highly arched eyebrow; Hypertelorism; Hypospadias; Intellectual disability; Intellectual disability, severe; Macroglossia; Malar flattening; Mandibular prognathia; Microcephaly; Micropenis; Midface retrusion; Muscular hypotonia; Mutism; Obesity; Obsessive-compulsive behavior; Protruding tongue; Recurrent respiratory infections; Short nose; Single transverse palmar crease; Sleep disturbance; Specific learning disability; Sporadic; Status epilepticus; Stereotypy; Synophrys; U-Shaped upper lip vermilion; Upslanted palpebral fissureObesity
FGF123q28-q29100%gene with protein product601513FGF12BAbsent speech; Autosomal dominant inheritance; Cerebellar atrophy; Chronic constipation; Developmental regression; Epileptic encephalopathy; Feeding difficulties; Hypsarrhythmia; Inability to walk; Limb ataxia; Multifocal epileptiform discharges; Muscular hypotonia of the trunk; Poor speech; Status epilepticus; Variable expressivity
FH1q43100%gene with protein product136850Abnormality of the musculature; Adrenal pheochromocytoma; Agenesis of corpus callosum; Aminoaciduria; Anteverted nares; Autosomal recessive inheritance; Cerebral atrophy; Cerebral hemorrhage; Chest pain; Cholestasis; Choroid plexus cyst; Cutaneous leiomyoma; Depressed nasal bridge; Dysphonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Failure to thrive; Fatigue; Flushing; Frontal bossing; Generalized hypotonia; Global developmental delay; Glomerulosclerosis; Hepatic failure; High palate; Hypercalcemia; Hypertelorism; Hypertensive retinopathy; Hypoplasia of the brainstem; Intellectual disability, profound; Lactic acidosis; Metabolic acidosis; Microcephaly; Multiple cutaneous leiomyomas; Nausea; Neurological speech impairment; Open operculum; Optic atrophy; Pallor; Palpitations; Paraganglioma of head and neck; Paroxysmal vertigo; Polycythemia; Polymicrogyria; Positive regitine blocking test; Proteinuria; Pruritus; Pulsatile tinnitus; Recurrent paroxysmal headache; Reduced subcutaneous adipose tissue; Relative macrocephaly; Sinus tachycardia; Status epilepticus; Visual impairment; Weight lossNephrotic Syndrome ; Rhabdomyolysis
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
GABRA15q34100%gene with protein product137160Absence seizures; Ataxia; Atonic seizures; Autosomal dominant inheritance; Cutaneous photosensitivity; EEG abnormality; Epileptic encephalopathy; Febrile seizures; Focal clonic seizures; Generalized myoclonic seizures; Global developmental delay; Hemiclonic seizures; Intellectual disability; Muscular hypotonia; Neurodevelopmental delay; Obtundation status; Pschomotor retardation; Status epilepticus; Tremor
ITPA20p13100%gene with protein product147520C20orf37Autosomal recessive inheritance; Brain atrophy; Cerebral atrophy; Death in infancy; Delayed CNS myelination; Encephalopathy; High pitched voice; Infantile onset; Intrauterine growth retardation; Irritability; Limb tremor; Severe muscular hypotonia; Status epilepticus
KCNT19q34.399.94%gene with protein product608167Autosomal dominant inheritance; Cerebral cortical atrophy; Clonus; Cognitive impairment; Depressivity; Developmental regression; Epileptic encephalopathy; Focal seizures; Generalized hypotonia; Gliosis; Hypoplasia of the corpus callosum; Microcephaly; Neuronal loss in central nervous system; Progressive; Spasticity; Status epilepticus; Tetraplegia
LMNB219p13.3100%gene with protein product150341LMN2Autoimmunity; Autosomal recessive inheritance; Decreased serum complement C3; Gait ataxia; Generalized amyotrophy; Global developmental delay; Hearing impairment; Intellectual disability; Lipoatrophy; Lymphocytosis; Microglossia; Myoclonus; Myopathy; Progeroid facial appearance; Progressive; Scoliosis; Seizures; Short thumb; Status epilepticus; Ventriculomegaly
NUS16q22.199.94%gene with protein product610463C6orf68Autosomal recessive inheritance; Cerebral cortical atrophy; Congenital onset; Failure to thrive; Generalized hypotonia; Global developmental delay; Hearing impairment; Hypertrichosis; Intrauterine growth retardation; Microcephaly; Scoliosis; Spasticity; Status epilepticus; Visual impairment
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
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
PLPBP8p11.23100%gene with protein productformer name = PROSC604436PROSCAbnormality of metabolism/homeostasis; Abnormality of movement; Apnea; Autosomal recessive inheritance; Clonus; EEG abnormality; Global developmental delay; Hypertonia; Intellectual disability; Muscular hypotonia; Myoclonus; Neurological speech impairment; Poor speech; Postnatal microcephaly; Respiratory insufficiency; Status epilepticus; Ventriculomegaly
PRODH22q11.2199.99%gene with protein product606810Aggressive behavior; Autosomal recessive inheritance; EEG abnormality; Generalized hypotonia; Global developmental delay; Hydroxyprolinuria; Hyperactivity; Hyperglycinuria; Hyperprolinemia; Intellectual disability; Nephropathy; Phenotypic variability; Prolinuria; Proteinuria; Status epilepticus; StereotypyPalmoplantar keratoderma plus congenital ichthyosis
QARS3p21.3199.89%gene with protein product603727Autosomal recessive inheritance; Cerebellar vermis atrophy; Cerebral atrophy; CNS hypomyelination; Epicanthus; Generalized hypotonia; Global developmental delay; Hypoplasia of the corpus callosum; Hypotelorism; Low-set ears; Narrow forehead; Posteriorly rotated ears; Progressive; Progressive microcephaly; Sloping forehead; Status epilepticus; Ventriculomegaly
RNU4ATAC2q14.2RNA, small nuclearXomeDxSlice is not appropriate.60142811 pairs of ribs; Abnormal form of the vertebral bodies; Abnormal vertebral ossification; Abnormality of calcium-phosphate metabolism; Abnormality of retinal pigmentation; Abnormality of the intervertebral disk; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the tragus; Absence seizures; Absent knee epiphyses; Agenesis of cerebellar vermis; Agenesis of corpus callosum; Alopecia; Aplasia/hypoplasia of the femur; Aplastic clavicles; Arthralgia; Atrial septal defect; Autosomal recessive inheritance; Biconvex vertebral bodies; Bifid femur; Bifid uvula; Bilateral single transverse palmar creases; Bowed humerus; Brachydactyly; Broad distal phalanx of finger; Bulbous nose; Cleft vertebral arch; Clinodactyly of the 5th finger; Coarctation of aorta; Coxa vara; Cryptorchidism; Delayed skeletal maturation; Disproportionate short stature; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Dry skin; Dyspnea; Elbow dislocation; Elbow flexion contracture; Enlarged metaphyses; Eosinophilia; Epileptic spasms; Epiphyseal dysplasia; Failure to thrive; Femoral bowing; Generalized hypotonia; Glaucoma; Global developmental delay; Hepatomegaly; Heterotopia; Hip contracture; Hip dislocation; Hydronephrosis; Hydroureter; Hyperkeratosis; Hypoplasia of the frontal lobes; Hypoplastic ilia; Hypotrichosis; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Irregular epiphyses; Irregular femoral epiphysis; Irregular vertebral endplates; Knee flexion contracture; Large hands; Large iliac wings; Long clavicles; Long foot; Long nose; Long palpebral fissure; Loss of eyelashes; Low-set ears; Lymphadenopathy; Malar flattening; Microcephaly; Micrognathia; Micromelia; Micropenis; Microtia; Muscle stiffness; Nystagmus; Oligohydramnios; Osteomalacia; Osteopenia; Osteoporosis; Pachygyria; Platyspondyly; Posteriorly rotated ears; Premature birth; Prolonged neonatal jaundice; Prominent nose; Prominent occiput; Proptosis; Recurrent otitis media; Recurrent pneumonia; Renal cyst; Renal hypoplasia; Respiratory failure; Retrognathia; Rickets; Rigidity; Seizures; Severe short stature; Short femur; Short humerus; Short metacarpal; Short neck; Short palm; Short stature; Short toe; Shoulder flexion contracture; Single transverse palmar crease; Sloping forehead; Small anterior fontanelle; Sparse and thin eyebrow; Sparse eyelashes; Sparse scalp hair; Spasticity; Specific learning disability; Splenomegaly; Spondyloepiphyseal dysplasia; Status epilepticus; Stillbirth; Submucous cleft hard palate; Tetralogy of Fallot; Thick vermilion border; Thickened nuchal skin fold; Thin eyebrow; Underdeveloped nasal alae
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
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
SLC12A520q13.12100%gene with protein product606726Abnormal pyramidal signs; Autosomal recessive inheritance; Cerebral atrophy; Delayed CNS myelination; Excessive salivation; Generalized tonic-clonic seizures with focal onset; Global developmental delay; Hemiclonic seizures; Inability to walk; Infantile onset; Intellectual disability; Postnatal microcephaly; Status epilepticus
SLC13A517p13.199.96%gene with protein product608305Abnormality of metabolism/homeostasis; Abnormality of movement; Amelogenesis imperfecta; Ataxia; Autosomal recessive inheritance; Dementia; Developmental regression; EEG abnormality; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Hypodontia; Hypohidrosis; Intellectual disability; Intellectual disability, severe; Microcephaly; Multifocal seizures; Muscular hypotonia; Muscular hypotonia of the trunk; Neurological speech impairment; Seizures; Spasticity; Status epilepticus; Yellow-brown discoloration of the teeth
SLC13A517p13.199.96%gene with protein product608305Abnormality of metabolism/homeostasis; Abnormality of movement; Amelogenesis imperfecta; Ataxia; Autosomal recessive inheritance; Dementia; Developmental regression; EEG abnormality; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Hypodontia; Hypohidrosis; Intellectual disability; Intellectual disability, severe; Microcephaly; Multifocal seizures; Muscular hypotonia; Muscular hypotonia of the trunk; Neurological speech impairment; Seizures; Spasticity; Status epilepticus; Yellow-brown discoloration of the teeth
SLC2A11p34.2100%gene with protein product138140GLUT1, GLUT, HTLVR, CSEAbnormal erythrocyte morphology; Absence seizures; Absent speech; Ataxia; Autosomal dominant inheritance; Cataract; Choreoathetosis; Confusion; Cyanosis; Delayed myelination; Delayed speech and language development; Dysarthria; Dystonia; EEG abnormality; Encephalopathy; Extrapyramidal dyskinesia; Generalized hyperreflexia; Global developmental delay; Headache; Hemiparesis; Hemolytic anemia; Hepatomegaly; Hyperactive deep tendon reflexes; Hyperreflexia; Hypoglycorrhachia; Inability to walk; Infantile onset; Intellectual disability; Jaundice; Lethargy; Microcephaly; Muscle stiffness; Nystagmus; Paralysis; Paresthesia; Paroxysmal dyskinesia; Paroxysmal involuntary eye movements; Progressive microcephaly; Seizures; Short stature; Spasticity; Splenomegaly; Status epilepticus; Torsion dystoniaHemolytic Anemia
SLC6A13p25.399.99%gene with protein product137165Abnormal brain FDG positron emission tomography; Absence seizures; Ataxia; Atonic seizures; Autosomal dominant inheritance; Developmental regression; Dysarthria; EEG with abnormally slow frequencies; EEG with spike-wave complexes (>3.5 Hz); Epileptic encephalopathy; Eyelid myoclonus; Intellectual disability; Mental deterioration; Myoclonic atonic seizures; Status epilepticus
SMARCA29p24.398.93%gene with protein product600014SNF2L2Abnormal hair pattern; Abnormality of the metacarpal bones; Absence seizures; Absent eyebrow; Absent speech; Aggressive behavior; Alopecia; Anteverted nares; Aphasia; Autosomal dominant inheritance; Blepharophimosis; Brachydactyly; Broad distal phalanx of finger; Broad philtrum; Clubbing of toes; Cryptorchidism; Curly eyelashes; Dysphasia; Echolalia; Eczema; Epileptic spasms; Everted lower lip vermilion; Excessive wrinkled skin; Failure to thrive; Global developmental delay; High, narrow palate; Highly arched eyebrow; Hypotrichosis; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint dislocation; Long eyelashes; Long philtrum; Low anterior hairline; Microcephaly; Mutism; Narrow nasal bridge; Poor speech; Prominent interphalangeal joints; Sandal gap; Scoliosis; Seizures; Severe short stature; Short metacarpal; Short metatarsal; Short palm; Short palpebral fissure; Short phalanx of finger; Smooth philtrum; Sparse scalp hair; Specific learning disability; Status epilepticus; Thick lower lip vermilion; Thick nasal alae; Thin vermilion border; Triangular face; Wide intermamillary distance; Wide mouth; Wide nasal base
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
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
SYNJ121q22.11100%gene with protein product604297Abnormal pyramidal signs; Akinesia; Autosomal recessive inheritance; Bradykinesia; Brain atrophy; Dysarthria; Dystonia; Elevated serum creatine phosphokinase; Epileptic encephalopathy; Eyelid apraxia; Fatigue; Feeding difficulties; Gait ataxia; Generalized hypotonia; Hypomimic face; Hypoplasia of the corpus callosum; Hyporeflexia; Inability to walk; Increased serum lactate; Intellectual disability; Intellectual disability, profound; Leg muscle stiffness; Parkinsonism; Pes cavus; Postural instability; Progressive; Progressive neurologic deterioration; Resting tremor; Rigidity; Scoliosis; Seizures; Short stepped shuffling gait; Shuffling gait; Slowed slurred speech; Spastic tetraplegia; Staring gaze; Status epilepticus; Supranuclear gaze palsy; Tremor; Weak voice


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