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
Apraxia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AARS26p21.1100%gene with protein product612035AARSLApraxia; Ataxia; Autosomal recessive inheritance; Death in infancy; Dementia; Depressivity; Dysarthria; Dystonia; EEG abnormality; Failure to thrive; Generalized muscle weakness; Hypertrophic cardiomyopathy; Increased serum lactate; Lactic acidosis; Loss of speech; Neurodegeneration; Nystagmus; Periventricular leukomalacia; Premature ovarian insufficiency; Progressive; Progressive leukoencephalopathy; Pulmonary hypoplasia; Spasticity; Tremor
ANKRD555q11.2100%gene with protein product615189Antinuclear antibody positivity; Apraxia; Arthralgia; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis
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
C9ORF729p21.299.97%gene with protein productXomeDxSlice is not appropriate.614260Abnormal brain FDG positron emission tomography; Abnormal lower motor neuron morphology; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Cerebral atrophy; Collectionism; Delusions; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Echolalia; EEG with continuous slow activity; Emotional blunting; Emotional lability; Extrapyramidal dyskinesia; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontotemporal cerebral atrophy; Frontotemporal dementia; Generalized muscle weakness; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Muscle cramps; Muscle weakness; Neurodegeneration; Neuronal loss in central nervous system; Pain; Paralysis; Paraparesis; Parkinsonism; Perseveration; Personality changes; Poor speech; Rapidly progressive; Respiratory failure; Restlessness; Restrictive behavior; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Tetraparesis; Thickened nuchal skin fold; Xerostomia
C9ORF729p21.299.97%gene with protein productXomeDxSlice is not appropriate.614260Abnormal brain FDG positron emission tomography; Abnormal lower motor neuron morphology; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Cerebral atrophy; Collectionism; Delusions; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Echolalia; EEG with continuous slow activity; Emotional blunting; Emotional lability; Extrapyramidal dyskinesia; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontotemporal cerebral atrophy; Frontotemporal dementia; Generalized muscle weakness; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Muscle cramps; Muscle weakness; Neurodegeneration; Neuronal loss in central nervous system; Pain; Paralysis; Paraparesis; Parkinsonism; Perseveration; Personality changes; Poor speech; Rapidly progressive; Respiratory failure; Restlessness; Restrictive behavior; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Tetraparesis; Thickened nuchal skin fold; Xerostomia
CD2471q24.2100%gene with protein product186780CD3ZAntinuclear antibody positivity; Apraxia; Arthralgia; Autosomal recessive inheritance; Decrease in T cell count; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Eosinophilia; Immunodeficiency; Infantile onset; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis; Protracted diarrhea; Susceptibility to herpesvirusPrimary Immunodeficiency
CHMP2B3p11.2100%gene with protein product609512Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Areflexia; Astrocytosis; Autosomal dominant inheritance; Babinski sign; Bulbar signs; Cerebral cortical atrophy; Collectionism; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Emotional blunting; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal release signs; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Generalized muscle weakness; Grammar-specific speech disorder; Hyperorality; Hyperreflexia; Hyporeflexia; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Muscle cramps; Mutism; Myoclonus; Neurodegeneration; Neuronal loss in central nervous system; Orofacial dyskinesia; Pain; Paralysis; Perseveration; Personality changes; Poor speech; Rapidly progressive; Respiratory failure; Respiratory insufficiency due to muscle weakness; Restlessness; Restrictive behavior; Rigidity; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Urinary incontinence; Xerostomia
CSF1R5q32100%gene with protein product164770FMSAbnormality of the cerebral white matter; Adult onset; Apraxia; Autosomal dominant inheritance; Bradykinesia; CNS demyelination; Depressivity; Frontal lobe dementia; Gliosis; Hyperreflexia; Leukoencephalopathy; Memory impairment; Mutism; Neuronal loss in central nervous system; Postural instability; Rapidly progressive; Rigidity; Shuffling gait; Spasticity
EBF310q26.3100%gene with protein product607407Apraxia; Astigmatism; Autosomal dominant inheritance; Broad chin; Broad nasal tip; Cryptorchidism; Deep philtrum; Deeply set eye; Delayed speech and language development; Downslanted palpebral fissures; Downturned corners of mouth; Dysarthria; Dysmetria; Dysphagia; Epicanthus; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High forehead; Horizontal eyebrow; Hypertelorism; Infantile onset; Intellectual disability; Inverted nipples; Long face; Low-set ears; Micropenis; Myopathic facies; Oval face; Overfolded helix; Posteriorly rotated ears; Prominent forehead; Prominent nasal bridge; Short chin; Stereotypy; Strabismus; Synophrys; Thin upper lip vermilion; Triangular face; Vesicoureteral reflux
EPM2A6q24.399.94%gene with protein product607566Abnormality of metabolism/homeostasis; Absence seizures; Apraxia; Autosomal recessive inheritance; Cutaneous photosensitivity; Dementia; Gait disturbance; Generalized myoclonic seizures; Generalized tonic-clonic seizures with focal onset; Hepatic failure; Heterogeneous; Myoclonus; Progressive neurologic deterioration; Psychosis; Rapidly progressive; Simple partial occipital seizures; Visual auras; Visual hallucinations; Visual loss
FOXG114q1299.71%gene with protein product164874FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1AAbnormality of movement; Abnormality of the antihelix; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Agenesis of corpus callosum; Aplasia/Hypoplasia of the cerebellum; Apraxia; Athetosis; Autosomal dominant inheritance; Blepharophimosis; Bruxism; Bulbous nose; Camptodactyly of finger; Cerebral cortical atrophy; Chorea; Clinodactyly of the 5th finger; Constipation; Cortical gyral simplification; Delayed myelination; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Drooling; Dyskinesia; Dystonia; EEG abnormality; Epicanthus; Everted lower lip vermilion; Excessive salivation; Feeding difficulties; Fine hair; Gastroesophageal reflux; Growth delay; Hearing impairment; Hypoplasia of the corpus callosum; Intellectual disability; Intellectual disability, severe; Kyphosis; Long philtrum; Macroglossia; Mandibular prognathia; Microcephaly; Motor delay; Muscular hypotonia; Neonatal hypotonia; Nephrolithiasis; Pachygyria; Palpebral edema; Pes planus; Poor eye contact; Progressive microcephaly; Prominent metopic ridge; Protruding ear; Scoliosis; Seizures; Short nose; Smooth philtrum; Spasticity; Sporadic; Stereotypy; Talipes equinovarus; Tented upper lip vermilion; Thick vermilion border; Tongue thrusting; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose
GRN17q21.3199.99%gene with protein product138945Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Aggressive behavior; Agitation; Alexia; Anxiety; Apathy; Aphasia; Apraxia; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral cortical atrophy; Collectionism; Depressivity; Dilation of lateral ventricles; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Echolalia; EEG abnormality; EEG with continuous slow activity; Emotional blunting; Frontotemporal cerebral atrophy; Frontotemporal dementia; Generalized myoclonic seizures; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Hypersexuality; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Mutism; Neuronal loss in central nervous system; Optic atrophy; Parkinsonism; Perseveration; Personality changes; Polyphagia; Poor speech; Progressive language deterioration; Rapidly progressive; Repetitive compulsive behavior; Restlessness; Restrictive behavior; Retinal dystrophy; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Visual impairment
GRN17q21.3199.99%gene with protein product138945Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Aggressive behavior; Agitation; Alexia; Anxiety; Apathy; Aphasia; Apraxia; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral cortical atrophy; Collectionism; Depressivity; Dilation of lateral ventricles; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Echolalia; EEG abnormality; EEG with continuous slow activity; Emotional blunting; Frontotemporal cerebral atrophy; Frontotemporal dementia; Generalized myoclonic seizures; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Hypersexuality; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Mutism; Neuronal loss in central nervous system; Optic atrophy; Parkinsonism; Perseveration; Personality changes; Polyphagia; Poor speech; Progressive language deterioration; Rapidly progressive; Repetitive compulsive behavior; Restlessness; Restrictive behavior; Retinal dystrophy; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Visual impairment
IL2RA10p15.1100%gene with protein product147730IL2R, IDDM10Alopecia; Antinuclear antibody positivity; Apraxia; Arthralgia; Autoimmune hemolytic anemia; Autosomal recessive inheritance; Chronic diarrhea; Decrease in T cell count; Dental malocclusion; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Hepatomegaly; Hepatosplenomegaly; IgA deficiency; Immunodeficiency; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Lymphadenopathy; Polyarticular arthritis; Recurrent bacterial infections; Recurrent fungal infections; Recurrent respiratory infections; Recurrent viral infections; Splenomegaly; Villous atrophyAutoimmune Disorders ; Inflammatory Bowel Disease
IL2RB22q12.3100%gene with protein product146710IL15RBAntinuclear antibody positivity; Apraxia; Arthralgia; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis
MAPT17q21.31100%gene with protein product157140DDPAC, MAPTLAbnormal brain FDG positron emission tomography; Abnormal pyramidal signs; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Akinesia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Axial dystonia; Blurred vision; Bradykinesia; Collectionism; Dementia; Depressivity; Diplopia; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Echolalia; EEG with continuous slow activity; Emotional blunting; Eyelid apraxia; Falls; Frontal lobe dementia; Frontolimbic dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait imbalance; Gliosis; Grammar-specific speech disorder; Granulovacuolar degeneration; Heterogeneous; Hyperorality; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Kyphoscoliosis; Lack of insight; Language impairment; Loss of speech; Memory impairment; Morphological abnormality of the pyramidal tract; Mutism; Neurofibrillary tangles; Neuronal loss in central nervous system; Ophthalmoparesis; Parkinsonism; Perseveration; Personality changes; Photophobia; Polyphagia; Poor speech; Primitive reflex; Restlessness; Restrictive behavior; Retrocollis; Rigidity; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Supranuclear gaze palsy; Temporal cortical atrophy; Thickened nuchal skin fold; Tremor
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
NHLRC16p22.3100%gene with protein product608072Abnormality of metabolism/homeostasis; Absence seizures; Apraxia; Autosomal recessive inheritance; Cutaneous photosensitivity; Dementia; Gait disturbance; Generalized myoclonic seizures; Generalized tonic-clonic seizures with focal onset; Hepatic failure; Heterogeneous; Myoclonus; Progressive neurologic deterioration; Psychosis; Rapidly progressive; Simple partial occipital seizures; Visual auras; Visual hallucinations; Visual loss
PRNP20p13100%gene with protein product176640PRIP, GSS, CJDAbdominal symptom; Adult onset; Aggressive behavior; Akinetic mutism; Anxiety; Apathy; Aphasia; Apnea; Apraxia; Areflexia; Astrocytosis; Ataxia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Babinski sign; Basal ganglia gliosis; Bradykinesia; Central nervous system degeneration; Cerebellar atrophy; Childhood onset; Chorea; Clumsiness; Confusion; Constipation; Deficit in phonologic short-term memory; Delusions; Dementia; Depressivity; Diffuse spongiform leukoencephalopathy; Diplopia; Dysarthria; Dysautonomia; Dysmetria; Dysphagia; EEG with persistent abnormal rhythmic activity; Emotional lability; Encephalopathy; Extrapyramidal muscular rigidity; Fever; Focal T2 hyperintense basal ganglia lesion; Gait ataxia; Gliosis; Global brain atrophy; Hallucinations; Hemiparesis; Hyperhidrosis; Hyperreflexia; Hypersomnia; Impaired smooth pursuit; Incoordination; Insomnia; Irritability; Jaw pain; Limb ataxia; Loss of facial expression; Lower limb muscle weakness; Memory impairment; Muscle weakness; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perseveration; Personality changes; Phenotypic variability; Poor visual behavior for age; Progressive cerebellar ataxia; Progressive extrapyramidal muscular rigidity; Progressive forgetfulness; Psychosis; Rapidly progressive; Restlessness; Rigidity; Seizures; Senile plaques; Short attention span; Sleep disturbance; Slurred speech; Spastic dysarthria; Spastic hemiparesis; Spasticity; Specific learning disability; Stroke-like episode; Supranuclear gaze palsy; Tremor; Truncal ataxia; Unsteady gait; Urinary retention; Visual impairment; Weight loss
PSEN114q24.2100%gene with protein product104311AD3Abnormal brain FDG positron emission tomography; Abnormal social behavior; Abnormality of extrapyramidal motor function; Abnormality of the cerebral white matter; Acne inversa; Adult onset; Aggressive behavior; Agitation; Alexia; Alzheimer disease; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Babinski sign; Cerebral cortical atrophy; Chronic furunculosis; Collectionism; Confusion; Congestive heart failure; Dementia; Deposits immunoreactive to beta-amyloid protein; Depressivity; Dilated cardiomyopathy; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Dystonia; Echolalia; EEG with continuous slow activity; Emotional blunting; Frontal lobe dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Gliosis; Grammar-specific speech disorder; Hallucinations; Heterogeneous; Hyperorality; Hypertonia; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Lack of insight; Language impairment; Loss of speech; Lower limb hyperreflexia; Memory impairment; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perifolliculitis; Perseveration; Personality changes; Polyphagia; Poor speech; Primitive reflex; Rapidly progressive; Recurrent cutaneous abscess formation; Restlessness; Restrictive behavior; Seizures; Spastic tetraparesis; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Syncope; Temporal cortical atrophy; Thickened nuchal skin fold
PSEN114q24.2100%gene with protein product104311AD3Abnormal brain FDG positron emission tomography; Abnormal social behavior; Abnormality of extrapyramidal motor function; Abnormality of the cerebral white matter; Acne inversa; Adult onset; Aggressive behavior; Agitation; Alexia; Alzheimer disease; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Babinski sign; Cerebral cortical atrophy; Chronic furunculosis; Collectionism; Confusion; Congestive heart failure; Dementia; Deposits immunoreactive to beta-amyloid protein; Depressivity; Dilated cardiomyopathy; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Dystonia; Echolalia; EEG with continuous slow activity; Emotional blunting; Frontal lobe dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Gliosis; Grammar-specific speech disorder; Hallucinations; Heterogeneous; Hyperorality; Hypertonia; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Lack of insight; Language impairment; Loss of speech; Lower limb hyperreflexia; Memory impairment; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perifolliculitis; Perseveration; Personality changes; Polyphagia; Poor speech; Primitive reflex; Rapidly progressive; Recurrent cutaneous abscess formation; Restlessness; Restrictive behavior; Seizures; Spastic tetraparesis; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Syncope; Temporal cortical atrophy; Thickened nuchal skin fold
PTPN218p11.2199.84%gene with protein product176887PTPTAntinuclear antibody positivity; Apraxia; Arthralgia; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis
PTPN221p13.299.15%gene with protein product600716PTPN8Abdominal pain; Abnormal eyebrow morphology; Abnormality of the eyelashes; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Alopecia; Anorexia; Antinuclear antibody positivity; Apraxia; Arthralgia; Arthritis; Autoimmunity; Cataract; Cerebral ischemia; Chest pain; Chewing difficulties; Chronic obstructive pulmonary disease; Cognitive impairment; Cough; Dental malocclusion; Depressivity; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Fatigue; Fever; Glaucoma; Glomerulopathy; Granulomatosis; Headache; Hematuria; Hemoptysis; Hypopigmented skin patches; Inflammatory abnormality of the eye; Iridocyclitis; Joint dislocation; Joint stiffness; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Nausea and vomiting; Ophthalmoparesis; Papule; Periorbital edema; Poliosis; Polyarticular arthritis; Premature graying of hair; Proteinuria; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Retinal detachment; Sensorineural hearing impairment; Short stature; Sinusitis; Skin rash; Sparse scalp hair; Vasculitis; Visual impairment; Vitiligo; Weight loss
SNX146q14.399.85%gene with protein product616105Anteverted nares; Apraxia; Ataxia; Autistic behavior; Autosomal recessive inheritance; Babinski sign; Brachydactyly; Broad face; Broad philtrum; Camptodactyly; Cerebellar atrophy; Cerebellar hypoplasia; Cerebral cortical atrophy; Clinodactyly; Coarse facial features; Delayed eruption of teeth; Dental crowding; Epicanthus; Generalized hypotonia; Global developmental delay; High palate; Hyporeflexia; Inability to walk; Infantile onset; Long philtrum; Prominent forehead; Relative macrocephaly; Short palpebral fissure; Spasticity; Talipes equinovarus; Thick vermilion border; Wide nasal base
STAT42q32.2-q32.399.99%gene with protein product600558Abdominal pain; Abnormal blistering of the skin; Acne; Antinuclear antibody positivity; Apraxia; Arthralgia; Arthritis; Confusion; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Polyarticular arthritis; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
TBP6q27100%gene with protein productXomeDxSlice is not appropriate.600075GTF2D1, SCA17Abnormal pyramidal signs; Aggressive behavior; Apraxia; Ataxia; Atrophy/Degeneration affecting the brainstem; Autosomal dominant inheritance; Behavioral abnormality; Blepharospasm; Bradykinesia; Broad-based gait; Cerebellar atrophy; Cerebellar Purkinje layer atrophy; Chorea; Confusion; Depressivity; Diffuse cerebral atrophy; Dysarthria; Dysmetria; Dysphagia; Dystonia; Frontal lobe dementia; Frontal release signs; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Generalized cerebral atrophy/hypoplasia; Gliosis; Hallucinations; Impaired pursuit initiation and maintenance; Intention tremor; Lack of insight; Limb ataxia; Mental deterioration; Mutism; Myoclonus; Neuronal loss in central nervous system; Paranoia; Parkinsonism; Positive Romberg sign; Progressive; Rigidity; Seizures; Spasticity; Torticollis; Urinary incontinenceDisorders of Sex Development; Ectodermal Dysplasia
TMEM106B7p21.3100%gene with protein product613413Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Aggressive behavior; Alexia; Anxiety; Apraxia; Collectionism; Depressivity; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Echolalia; EEG with continuous slow activity; Emotional blunting; Frontotemporal cerebral atrophy; Frontotemporal dementia; Grammar-specific speech disorder; Hyperorality; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Perseveration; Personality changes; Poor speech; Restlessness; Restrictive behavior; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold
TREM26p21.1100%gene with protein product605086Abnormal adipose tissue morphology; Abnormal brain FDG positron emission tomography; Abnormal social behavior; Abnormal upper motor neuron morphology; Abnormality of epiphysis morphology; Abnormality of the cerebral white matter; Abnormality of the foot; Abnormality of the hand; Aggressive behavior; Agitation; Agnosia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apraxia; Arthralgia; Autosomal recessive inheritance; Axonal loss; Babinski sign; Basal ganglia calcification; Bone cyst; Bone pain; Caudate atrophy; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Chorea; Collectionism; Confusion; Deposits immunoreactive to beta-amyloid protein; Depressivity; Developmental regression; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Echolalia; EEG abnormality; EEG with continuous slow activity; Emotional blunting; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal lobe dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Generalized muscle weakness; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Hypertonia; Hypoplasia of the corpus callosum; Inappropriate behavior; Irritability; Lack of insight; Language impairment; Leukoencephalopathy; Limitation of joint mobility; Loss of speech; Memory impairment; Muscle cramps; Myoclonus; Neurodegeneration; Neurofibrillary tangles; Neurological speech impairment; Oculomotor apraxia; Pain; Paralysis; Parkinsonism; Pathologic fracture; Peripheral demyelination; Perseveration; Personality changes; Poor speech; Primitive reflex; Reduced bone mineral density; Respiratory failure; Restlessness; Restrictive behavior; Seizures; Skeletal dysplasia; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Urinary incontinence; Ventriculomegaly; Xerostomia
TREM26p21.1100%gene with protein product605086Abnormal adipose tissue morphology; Abnormal brain FDG positron emission tomography; Abnormal social behavior; Abnormal upper motor neuron morphology; Abnormality of epiphysis morphology; Abnormality of the cerebral white matter; Abnormality of the foot; Abnormality of the hand; Aggressive behavior; Agitation; Agnosia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apraxia; Arthralgia; Autosomal recessive inheritance; Axonal loss; Babinski sign; Basal ganglia calcification; Bone cyst; Bone pain; Caudate atrophy; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Chorea; Collectionism; Confusion; Deposits immunoreactive to beta-amyloid protein; Depressivity; Developmental regression; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Echolalia; EEG abnormality; EEG with continuous slow activity; Emotional blunting; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal lobe dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Generalized muscle weakness; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Hypertonia; Hypoplasia of the corpus callosum; Inappropriate behavior; Irritability; Lack of insight; Language impairment; Leukoencephalopathy; Limitation of joint mobility; Loss of speech; Memory impairment; Muscle cramps; Myoclonus; Neurodegeneration; Neurofibrillary tangles; Neurological speech impairment; Oculomotor apraxia; Pain; Paralysis; Parkinsonism; Pathologic fracture; Peripheral demyelination; Perseveration; Personality changes; Poor speech; Primitive reflex; Reduced bone mineral density; Respiratory failure; Restlessness; Restrictive behavior; Seizures; Skeletal dysplasia; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Urinary incontinence; Ventriculomegaly; Xerostomia
TREX13p21.31100%gene with protein product606609AGS1Abnormality of extrapyramidal motor function; Abnormality of the periventricular white matter; Abnormality of the retinal vasculature; Acrocyanosis; Adult onset; Apraxia; Arrhinencephaly; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Behavioral abnormality; Central nervous system degeneration; Cerebral atrophy; Chilblain lesions; Chronic CSF lymphocytosis; Deep white matter hypodensities; Dementia; Dysarthria; Dystonia; Elevated erythrocyte sedimentation rate; Elevated hepatic transaminases; Eyelid coloboma; Feeding difficulties in infancy; Fever; Focal white matter lesions; Global developmental delay; Hematuria; Hemiparesis; Hemiplegia/hemiparesis; Hepatosplenomegaly; Increased CSF interferon alpha; Intellectual disability, profound; Juvenile onset; Leukodystrophy; Leukoencephalopathy; Limb pain; Lower limb hyperreflexia; Macular edema; Mental deterioration; Migraine; Morphological abnormality of the pyramidal tract; Multiple gastric polyps; Muscular hypotonia of the trunk; Nystagmus; Petechiae; Poor head control; Porencephalic cyst; Progressive; Progressive encephalopathy; Progressive forgetfulness; Progressive microcephaly; Progressive visual loss; Prolonged neonatal jaundice; Proteinuria; Punctate vasculitis skin lesions; Raynaud phenomenon; Retinal exudate; Retinal hemorrhage; Retinopathy; Seizures; Skin ulcer; Spasticity; Strabismus; Stroke; Telangiectasia; Thrombocytopenia; Vasculitis in the skin; Visual impairmentAutoimmune Disorders
TREX13p21.31100%gene with protein product606609AGS1Abnormality of extrapyramidal motor function; Abnormality of the periventricular white matter; Abnormality of the retinal vasculature; Acrocyanosis; Adult onset; Apraxia; Arrhinencephaly; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Behavioral abnormality; Central nervous system degeneration; Cerebral atrophy; Chilblain lesions; Chronic CSF lymphocytosis; Deep white matter hypodensities; Dementia; Dysarthria; Dystonia; Elevated erythrocyte sedimentation rate; Elevated hepatic transaminases; Eyelid coloboma; Feeding difficulties in infancy; Fever; Focal white matter lesions; Global developmental delay; Hematuria; Hemiparesis; Hemiplegia/hemiparesis; Hepatosplenomegaly; Increased CSF interferon alpha; Intellectual disability, profound; Juvenile onset; Leukodystrophy; Leukoencephalopathy; Limb pain; Lower limb hyperreflexia; Macular edema; Mental deterioration; Migraine; Morphological abnormality of the pyramidal tract; Multiple gastric polyps; Muscular hypotonia of the trunk; Nystagmus; Petechiae; Poor head control; Porencephalic cyst; Progressive; Progressive encephalopathy; Progressive forgetfulness; Progressive microcephaly; Progressive visual loss; Prolonged neonatal jaundice; Proteinuria; Punctate vasculitis skin lesions; Raynaud phenomenon; Retinal exudate; Retinal hemorrhage; Retinopathy; Seizures; Skin ulcer; Spasticity; Strabismus; Stroke; Telangiectasia; Thrombocytopenia; Vasculitis in the skin; Visual impairmentAutoimmune Disorders
TTC1917p12100%gene with protein product613814Aggressive behavior; Anxiety; Apraxia; Autosomal recessive inheritance; Axonal degeneration; Bradykinesia; Cerebellar atrophy; Cerebral atrophy; Cognitive impairment; Depressivity; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphonia; Dystonia; Hallucinations; Incoordination; Muscle weakness; Neurodegeneration; Nystagmus; Obsessive-compulsive behavior; Olivopontocerebellar atrophy; Phenotypic variability; Psychosis; Skeletal muscle atrophy; Spastic paraparesis; Tremor
TYK219p13.299.99%gene with protein product176941Antinuclear antibody positivity; Apraxia; Arthralgia; Autosomal recessive inheritance; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Immunodeficiency; Increased IgE level; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis; Recurrent fungal infections; Recurrent mycobacterial infections; Recurrent respiratory infections; Recurrent viral infectionsAutoimmune Disorders
TYROBP19q13.12100%gene with protein product604142PLOSLAbnormal adipose tissue morphology; Abnormal upper motor neuron morphology; Abnormality of epiphysis morphology; Abnormality of the foot; Abnormality of the hand; Aggressive behavior; Agnosia; Apraxia; Arthralgia; Autosomal recessive inheritance; Axonal loss; Babinski sign; Basal ganglia calcification; Bone cyst; Bone pain; Caudate atrophy; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Chorea; Developmental regression; Disinhibition; EEG abnormality; Frontal lobe dementia; Gait disturbance; Gliosis; Hypoplasia of the corpus callosum; Irritability; Lack of insight; Leukoencephalopathy; Limitation of joint mobility; Memory impairment; Myoclonus; Neurological speech impairment; Oculomotor apraxia; Pathologic fracture; Peripheral demyelination; Personality changes; Primitive reflex; Reduced bone mineral density; Seizures; Skeletal dysplasia; Spasticity; Urinary incontinence; Ventriculomegaly
UBE3A15q11.2100%gene with protein product601623EPVE6AP, HPVE6AAbsent speech; Apraxia; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Blue irides; Brachycephaly; Broad-based gait; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Clumsiness; Constipation; Deeply set eye; Delayed speech and language development; Drooling; EEG abnormality; Exotropia; Fair hair; Feeding difficulties in infancy; Flat occiput; Generalized hypotonia; Global developmental delay; Hyperactivity; Hyperreflexia; Hypopigmentation of the skin; Hypoplasia of the maxilla; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Limb tremor; Macroglossia; Mandibular prognathia; Motor delay; Muscular hypotonia; Myopia; Nystagmus; Obesity; Obsessive-compulsive behavior; Paroxysmal bursts of laughter; Postnatal microcephaly; Progressive gait ataxia; Protruding tongue; Scoliosis; Seizures; Sleep-wake cycle disturbance; Sporadic; Strabismus; Wide mouth; Widely spaced teeth
VCP9p13.3100%gene with protein product601023Abnormal brain FDG positron emission tomography; Abnormal nerve conduction velocity; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral white matter; Absent Achilles reflex; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apraxia; Arthralgia; Autosomal dominant inheritance; Babinski sign; Back pain; Bone pain; Brain atrophy; Collectionism; Depressivity; Difficulty climbing stairs; Disinhibition; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Elevated alkaline phosphatase; Elevated alkaline phosphatase of bone origin; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Emotional blunting; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal cortical atrophy; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Gait imbalance; Generalized muscle weakness; Grammar-specific speech disorder; Hammertoe; Hip pain; Hyperlordosis; Hyperorality; Impaired vibration sensation in the lower limbs; Inappropriate behavior; Increased spinal bone density; Increased variability in muscle fiber diameter; Irritability; Lack of insight; Limb fasciculations; Limb muscle weakness; Loss of speech; Lower limb hyperreflexia; Lumbar hyperlordosis; Memory impairment; Muscle cramps; Muscle weakness; Myopathy; Neurodegeneration; Osteolysis; Pain; Paralysis; Pelvic girdle amyotrophy; Pelvic girdle muscle atrophy; Pelvic girdle muscle weakness; Perseveration; Personality changes; Pes cavus; Poor speech; Progressive; Proximal muscle weakness; Recurrent fractures; Respiratory failure; Restlessness; Restrictive behavior; Rimmed vacuoles; Scapular winging; Short stature; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spastic gait; Spastic paraplegia; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Tongue fasciculations; Ubiquitin-positive cerebral inclusion bodies; Variable expressivity; Waddling gait; Xerostomia


The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome