XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Vertigo

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADA222q11.199.99%gene with protein productFormer name = CECR1607575IDGFL, CECR1Abdominal pain; Agitation; Amaurosis fugax; Antiphospholipid antibody positivity; Aphasia; Arterial stenosis; Arthritis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Behavioral abnormality; Cutis marmorata; Dementia; Developmental regression; Dilatation; Dysarthria; Elevated hepatic transaminases; Erythema nodosum; Facial palsy; Fever; Headache; Hemiparesis; Hemiplegia; Hepatomegaly; Hypertension; Immunodeficiency; Memory impairment; Mental deterioration; Migraine; Motor delay; Muscle weakness; Myalgia; Ophthalmoplegia; Panniculitis; Peripheral neuropathy; Progressive; Purpura; Raynaud phenomenon; Seizures; Splenomegaly; Sporadic; Stroke; Thromboembolic stroke; Tremor; Variable expressivity; Vertigo; Visual field defectAutoimmune Disorders
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
B2M15q21.1100%gene with protein product109700Autonomic bladder dysfunction; Autonomic dysregulation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bowel incontinence; Bronchiectasis; Cholestasis; Chronic constipation; Chronic diarrhea; Edema; Gastrointestinal dysmotility; Gastrointestinal hemorrhage; Generalized amyloid deposition; Hematuria; Hepatomegaly; Hypertension; Hypoalbuminemia; Hypoplasia of the ulna; Hypoproteinemia; IgG deficiency; Intermittent diarrhea; Keratoconjunctivitis sicca; Malabsorption; Nephropathy; Nephrotic syndrome; Orthostatic hypotension due to autonomic dysfunction; Proteinuria; Radial bowing; Recurrent respiratory infections; Skin rash; Splenomegaly; Variable expressivity; Vertigo; Weight loss; Xerostomia
CACNA1A19p13.13100%gene with protein productPlease note that some forms of ataxia are associated with a repeat expansion in the CACNA1A gene which may not be detected by XomeDxSlice.601011CACNL1A4, SCA6, MHP1, MHPAbnormal vestibulo-ocular reflex; Abnormality of movement; Agitation; Anxiety; Ataxia; Athetosis; Auditory hallucinations; Autosomal dominant inheritance; Cerebellar atrophy; Cerebellar vermis atrophy; Coma; Confusion; Diplopia; Downbeat nystagmus; Drowsiness; Dysarthria; Dyscalculia; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Epileptic encephalopathy; Episodic ataxia; Esotropia; Fever; Flexion contracture; Gaze-evoked nystagmus; Generalized hypotonia; Genetic anticipation; Global developmental delay; Hemiparesis; Hemiplegia; Hemiplegia/hemiparesis; Heterogeneous; Hyperreflexia; Hypertonia; Impaired smooth pursuit; Incomplete penetrance; Migraine; Migraine with aura; Muscle weakness; Myotonia; Nystagmus; Paresthesia; Progressive; Progressive cerebellar ataxia; Psychosis; Saccadic smooth pursuit; Seizures; Sensory neuropathy; Tinnitus; Transient unilateral blurring of vision; Tremor; Vertigo; Vestibular dysfunction; Visual hallucinations
CACNB42q23.399.99%gene with protein product601949Autosomal dominant inheritance; Dysarthria; Episodic ataxia; Gaze-evoked nystagmus; Incomplete penetrance; Vertigo
CALM114q32.11100%gene with protein product114180CALML2Autosomal dominant inheritance; Cardiac arrest; Prolonged QT interval; Sudden death; Syncope; Ventricular tachycardia; Vertigo
CALM114q32.11100%gene with protein product114180CALML2Autosomal dominant inheritance; Cardiac arrest; Prolonged QT interval; Sudden death; Syncope; Ventricular tachycardia; Vertigo
CALM22p21100%gene with protein product114182Autosomal dominant inheritance; Prolonged QT interval; Ventricular tachycardia; Vertigo
CALM319q13.32100%gene with protein product114183Ventricular tachycardia; Vertigo
CASQ21p13.199.91%gene with protein product114251Autosomal dominant inheritance; Autosomal recessive inheritance; Seizures; Sudden death; Syncope; Ventricular tachycardia; Vertigo
CNNM210q24.32100%gene with protein product607803ACDP2Autosomal dominant inheritance; Autosomal recessive inheritance; Generalized muscle weakness; Global developmental delay; Headache; Hyperactive deep tendon reflexes; Hypermagnesiuria; Hypomagnesemia; Intellectual disability; Intellectual disability, moderate; Microcephaly; Moderate global developmental delay; Muscle weakness; Obesity; Poor speech; Seizures; Vertigo
CNNM210q24.32100%gene with protein product607803ACDP2Autosomal dominant inheritance; Autosomal recessive inheritance; Generalized muscle weakness; Global developmental delay; Headache; Hyperactive deep tendon reflexes; Hypermagnesiuria; Hypomagnesemia; Intellectual disability; Intellectual disability, moderate; Microcephaly; Moderate global developmental delay; Muscle weakness; Obesity; Poor speech; Seizures; Vertigo
COCH14q12100%gene with protein product603196DFNA31, DFNA9Abnormality of the vestibulocochlear nerve; Autosomal dominant inheritance; Cochlear degeneration; Postlingual sensorineural hearing impairment; Progressive; Tinnitus; Vertigo; Young adult onset
DKK110q21.1100%gene with protein product605189Abnormality of the clivus; Abnormality of the eleventh cranial nerve; Abnormality of the twelfth cranial nerve; Abnormality of the vestibulocochlear nerve; Anteriorly placed odontoid process; Areflexia of upper limbs; Arnold-Chiari type I malformation; Bone pain; Cervical C2/C3 vertebral fusion; Cranial nerve compression; Cranial nerve paralysis; Distal peripheral sensory neuropathy; Dysesthesia; Dysphagia; Gait ataxia; Gait disturbance; Increased intracranial pressure; Lower limb hyperreflexia; Myelopathy; Neck pain; Nystagmus; Osteoporosis; Progressive cerebellar ataxia; Recurrent fractures; Recurrent paroxysmal headache; Scoliosis; Sensory impairment; Small posterior fossa; Stiff neck; Syringomyelia; Tinnitus; Vertebral compression fractures; Vertigo; Vocal cord paralysis
EGF4q25100%gene with protein product131530Autosomal recessive inheritance; Generalized muscle weakness; Headache; Hyperactive deep tendon reflexes; Hypermagnesiuria; Hypomagnesemia; Intellectual disability, moderate; Moderate global developmental delay; Obesity; Poor speech; Seizures; VertigoHeterotaxy ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
EPOR19p13.2100%gene with protein product133171Abdominal pain; Abnormal hemoglobin; Arthralgia; Epistaxis; Fatigue; Headache; Polycythemia; Pruritus; Venous thrombosis; Vertigo
GATA23q21.3100%gene with protein productThe published variants deep within intron 4 of GATA2 would not be detected by XomeDxSlice137295Abnormal natural killer cell morphology; Abnormal neutrophil count; Abnormality of the optic nerve; Acute leukemia; Autosomal dominant inheritance; Bone marrow hypocellularity; Bruising susceptibility; Cellulitis; Chronic otitis media; Fatigue; Fever; Hepatomegaly; Hypercoagulability; Immunodeficiency; Intracranial hemorrhage; Lymphedema; Migraine; Monocytopenia; Myelodysplasia; Nausea and vomiting; Neurological speech impairment; Neutropenia; Pallor; Pancytopenia; Phenotypic variability; Prolonged bleeding time; Recurrent fungal infections; Recurrent mycobacterium avium complex infections; Recurrent respiratory infections; Recurrent viral infections; Respiratory failure; Sensorineural hearing impairment; Splenomegaly; Thrombocytopenia; Vertigo; Visual loss; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes
GYG13q24100%gene with protein product603942GYGAbdominal wall muscle weakness; Autosomal recessive inheritance; Cardiomyocyte hypertrophy; Cardiomyopathy; Decreased muscle glycogen content; Decreased muscle mass; EMG: myopathic abnormalities; Exertional dyspnea; Foot dorsiflexor weakness; Increased mitochondrial number; Left ventricular septal hypertrophy; Limb-girdle muscle weakness; Muscle weakness; Neck flexor weakness; Palpitations; Right bundle branch block; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Slow progression; ST segment elevation; T-wave inversion; Upper limb muscle weakness; Variable expressivity; Ventricular arrhythmia; Ventricular fibrillation; Ventricular hypertrophy; Ventricular tachycardia; VertigoRhabdomyolysis
JAK29p24.199.18%gene with protein product147796Abdominal pain; Abnormal bleeding; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Angina pectoris; Arterial thrombosis; Arthralgia; Ascites; Autosomal dominant inheritance; Bruising susceptibility; Budd-Chiari syndrome; Cerebral hemorrhage; Cerebral ischemia; Chest pain; Cirrhosis; Elevated hepatic transaminases; Epistaxis; Esophageal varix; Exertional dyspnea; Fatigue; Fever; Gastrointestinal hemorrhage; Gingival bleeding; Headache; Hepatomegaly; Hyperhidrosis; Hypertension; Increased hematocrit; Increased hemoglobin; Increased megakaryocyte count; Increased red blood cell mass; Leukocytosis; Myelodysplasia; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Paresthesia; Peripheral arterial stenosis; Peripheral thrombosis; Plethora; Portal hypertension; Prolonged bleeding time; Pruritus; Respiratory insufficiency; Somatic mutation; Splenomegaly; Sporadic; Thrombocytopenia; Thrombocytosis; Thromboembolism; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossBone Marrow Failure Syndromes
JAK29p24.199.18%gene with protein product147796Abdominal pain; Abnormal bleeding; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Angina pectoris; Arterial thrombosis; Arthralgia; Ascites; Autosomal dominant inheritance; Bruising susceptibility; Budd-Chiari syndrome; Cerebral hemorrhage; Cerebral ischemia; Chest pain; Cirrhosis; Elevated hepatic transaminases; Epistaxis; Esophageal varix; Exertional dyspnea; Fatigue; Fever; Gastrointestinal hemorrhage; Gingival bleeding; Headache; Hepatomegaly; Hyperhidrosis; Hypertension; Increased hematocrit; Increased hemoglobin; Increased megakaryocyte count; Increased red blood cell mass; Leukocytosis; Myelodysplasia; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Paresthesia; Peripheral arterial stenosis; Peripheral thrombosis; Plethora; Portal hypertension; Prolonged bleeding time; Pruritus; Respiratory insufficiency; Somatic mutation; Splenomegaly; Sporadic; Thrombocytopenia; Thrombocytosis; Thromboembolism; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossBone Marrow Failure Syndromes
JUP17q21.2100%gene with protein product173325CTNNGAcantholysis; Alopecia; Anonychia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cardiomegaly; Cardiomyopathy; Cleft upper lip; Congestive heart failure; Curly hair; Dilated cardiomyopathy; Epidermal acanthosis; Fragile skin; Heterogeneous; Hyperhidrosis; Nail dystrophy; Onycholysis; Oral mucosal blisters; Palmoplantar keratoderma; Paroxysmal ventricular tachycardia; Right bundle branch block; Right ventricular cardiomyopathy; Skin erosion; Sparse and thin eyebrow; Sparse scalp hair; Sudden cardiac death; Sudden death; Syncope; Ventricular arrhythmia; Ventricular tachycardia; Vertigo; Woolly hairEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
KCNA112p13.32100%gene with protein product176260AEMKAbnormality of movement; Abnormality of the hand; Ataxia; Autosomal dominant inheritance; Babinski sign; Blurred vision; Dysarthria; Elevated serum creatine phosphokinase; EMG abnormality; Episodic ataxia; Headache; Hyperreflexia; Juvenile onset; Myokymia; Slurred speech; Spastic gait; Tremor; Type 1 muscle fiber predominance; Variable expressivity; Vertigo
MPL1p34.2100%gene with protein product159530Abdominal pain; Abnormal bleeding; Abnormal form of the vertebral bodies; Abnormal hemoglobin; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Amegakaryocytic thrombocytopenia; Anemia; Angina pectoris; Arterial thrombosis; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Cerebellar vermis hypoplasia; Chest pain; Coarse facial features; Epistaxis; Fatigue; Gingival bleeding; Headache; Hepatomegaly; Hyperhidrosis; Increased megakaryocyte count; Megakaryocytopenia; Melanocytic nevus; Myelodysplasia; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Pancytopenia; Paresthesia; Peripheral arterial stenosis; Prolonged bleeding time; Pruritus; Respiratory insufficiency; Scoliosis; Short neck; Short stature; Somatic mutation; Splenomegaly; Thrombocytopenia; Thrombocytosis; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
MVK12q24.11100%gene with protein product251170Abdominal pain; Aciduria; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the skin; Arthralgia; Arthritis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Cataract; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Cutaneous photosensitivity; Delayed skeletal maturation; Diarrhea; Dolichocephaly; Downslanted palpebral fissures; Edema; Elevated erythrocyte sedimentation rate; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Episodic fever; Failure to thrive; Fluctuating hepatomegaly; Fluctuating splenomegaly; Gastrointestinal hemorrhage; Generalized hypotonia; Global developmental delay; Headache; Hepatomegaly; Hyperkeratosis; Hypermelanotic macule; Increased IgA level; Intellectual disability; Large fontanelles; Leukocytosis; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Microcephaly; Migraine; Morbilliform rash; Muscular hypotonia; Myalgia; Neutrophilia; Normocytic hypoplastic anemia; Nyctalopia; Nystagmus; Optic disc pallor; Papule; Porokeratosis; Posteriorly rotated ears; Progressive cerebellar ataxia; Pruritus; Recurrent aphthous stomatitis; Seizures; Short stature; Skin rash; Splenomegaly; Thrombocytopenia; Triangular face; Urticaria; Vasculitis; Vertigo; VomitingInflammatory Bowel Disease ; Primary Immunodeficiency
MYD883p22.2100%gene with protein product602170Abnormality of neutrophils; Autosomal dominant inheritance; Gingival bleeding; Hypercoagulability; Immunodeficiency; Impaired lymphocyte transformation with phytohemagglutinin; Leukemia; Lymphoma; Monoclonal immunoglobulin M proteinemia; Normocytic anemia; Pallor; Polyclonal elevation of IgM; Polyneuropathy; Recurrent bacterial skin infections; Respiratory insufficiency; Vertigo
MYL212q24.11100%gene with protein product160781Asymmetric septal hypertrophy; Autosomal dominant inheritance; Chest pain; Dyspnea; Hypertrophic cardiomyopathy; Left ventricular septal hypertrophy; Muscular hypotonia; Myopathy; Palpitations; Pectus excavatum; Recurrent respiratory infections; Reduced tendon reflexes; Scoliosis; Ventricular tachycardia; Vertigo
MYO7A11q13.599.99%gene with protein product276903USH1B, DFNB2, DFNA11Abnormal cochlea morphology; Abnormal electroretinogram; Absent vestibular function; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Cataract; Congenital onset; Global developmental delay; Hemianopia; Heterogeneous; High hypermetropia; Intellectual disability; Iris hypopigmentation; Motor delay; Myopia; Nyctalopia; Rod-cone dystrophy; Schizophrenia; Scotoma; Sensorineural hearing impairment; Undetectable electroretinogram; Vertigo; Vestibular hypofunction; Visual loss
MYO7A11q13.599.99%gene with protein product276903USH1B, DFNB2, DFNA11Abnormal cochlea morphology; Abnormal electroretinogram; Absent vestibular function; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Cataract; Congenital onset; Global developmental delay; Hemianopia; Heterogeneous; High hypermetropia; Intellectual disability; Iris hypopigmentation; Motor delay; Myopia; Nyctalopia; Rod-cone dystrophy; Schizophrenia; Scotoma; Sensorineural hearing impairment; Undetectable electroretinogram; Vertigo; Vestibular hypofunction; Visual loss
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
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
NF222q12.2100%gene with protein product607379Abnormality of the skin; Abnormality of the vertebral column; Adult onset; Ataxia; Autosomal dominant inheritance; Cataract; Epiretinal membrane; Incomplete penetrance; Meningioma; Migraine; Peripheral neuropathy; Schwannoma; Sensorineural hearing impairment; Somatic mutation; Spinal cord tumor; Tinnitus; Variable expressivity; VertigoAplastic Anemia ; Bone Marrow Failure Syndromes ; Nephrotic Syndrome
PDGFB22q13.1100%gene with protein product190040SISAbnormality of neuronal migration; Adult onset; Anxiety; Apathy; Athetosis; Autosomal dominant inheritance; Basal ganglia calcification; Bradykinesia; Calcification of the small brain vessels; Cerebral calcification; Chorea; Corneal opacity; Dementia; Dense calcifications in the cerebellar dentate nucleus; Depressivity; Dysarthria; Dysdiadochokinesis; Dyskinesia; Dystonia; Erythema; Fibrosarcoma; Gait disturbance; Hepatomegaly; Hyperreflexia; Incomplete penetrance; Intrauterine growth retardation; Limb dysmetria; Mask-like facies; Memory impairment; Meningioma; Mental deterioration; Microcephaly; Migraine; Motor tics; Neoplasm of the skin; Parkinsonism; Postural instability; Progressive; Psychosis; Rigidity; Seizures; Skin ulcer; Subcutaneous hemorrhage; Subcutaneous nodule; Thickened skin; Thrombocytopenia; Tremor; Urinary incontinence; Ventriculomegaly; Vertigo
RYR21q4399.89%gene with protein product180902ARVD2Autosomal dominant inheritance; Dilatation of the ventricular cavity; Effort-induced polymorphic ventricular tachycardias; Right ventricular cardiomyopathy; Seizures; Sudden death; Syncope; Ventricular arrhythmia; Ventricular tachycardia; Vertigo
SH2B312q24.12100%gene with protein product605093Abnormal platelet morphology; Abnormality of the skeletal system; Acrocyanosis; Amaurosis fugax; Arterial thrombosis; Autosomal dominant inheritance; Cerebral hemorrhage; Chest pain; Exertional dyspnea; Fatigue; Headache; Hypertension; Impaired platelet aggregation; Increased hematocrit; Increased hemoglobin; Increased megakaryocyte count; Increased red blood cell mass; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Paresthesia; Peripheral thrombosis; Plethora; Prolonged bleeding time; Somatic mutation; Splenomegaly; Thrombocytosis; Transient ischemic attack; Venous thrombosis; VertigoBone Marrow Failure Syndromes
SLC1A35p13.2100%gene with protein product600111Autosomal dominant inheritance; Cerebellar hypoplasia; Diplopia; Dysarthria; Episodic ataxia; Generalized hypotonia; Hemiparesis; Hemiplegia; Migraine; Motor delay; Nausea; Phonophobia; Photophobia; Seizures; Slurred speech; Truncal ataxia; Vertigo; Vomiting
TECRL4q13.197.88%gene with protein product617242Autosomal recessive inheritance; Sudden death; Syncope; Ventricular tachycardia; Vertigo
TET24q24100%gene with protein product612839KIAA1546Abdominal pain; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Angina pectoris; Arterial thrombosis; Arthralgia; Bruising susceptibility; Chest pain; Epistaxis; Fatigue; Gingival bleeding; Headache; Hepatomegaly; Increased megakaryocyte count; Myelodysplasia; Myelofibrosis; Myocardial infarction; Paresthesia; Prolonged bleeding time; Respiratory insufficiency; Somatic mutation; Splenomegaly; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossBone Marrow Failure Syndromes
TNXB6p21.33-p21.92.07%gene with protein productLocated in the Chr 6 MHC Region600985TNXB1, TNXB2Acrocyanosis; Ambiguous genitalia, female; Arrhythmia; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicornuate uterus; Bruising susceptibility; Constipation; Decreased nerve conduction velocity; Depressivity; Duplicated collecting system; Elbow dislocation; Fatigue; Hiatus hernia; Hip dislocation; Hyperextensible skin; Joint hyperflexibility; Joint hypermobility; Malabsorption; Migraine; Mitral valve prolapse; Muscular hypotonia; Myalgia; Nausea and vomiting; Osteoarthritis; Pes planus; Proximal muscle weakness; Recurrent urinary tract infections; Sensory neuropathy; Skeletal muscle atrophy; Sleep disturbance; Soft skin; Thin skin; Vertigo; Vesicoureteral reflux; Wormian bones
TPK17q35100%gene with protein product606370Ataxia; Autosomal recessive inheritance; Dystonia; Generalized hypotonia; Lactic acidosis; Phenotypic variability; Spasticity; Vertigo
TRDN6q22.3193.18%gene with protein product603283Autosomal dominant inheritance; Autosomal recessive inheritance; Proximal muscle weakness; Seizures; Sudden death; Syncope; Ventricular tachycardia; Vertigo
VHL3p25.3100%gene with protein product608537Abnormality of the cerebral vasculature; Abnormality of the liver; Abnormality of the retinal vasculature; Adrenal pheochromocytoma; Aplasia/Hypoplasia of the cerebellum; Arteriovenous malformation; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cafe-au-lait spot; Capillary hemangiomas; Cerebellar hemangioblastoma; Cerebral hemorrhage; Chest pain; Congenital cataract; Congestive heart failure; Dysphonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Epididymal cyst; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Gait disturbance; Glomerulosclerosis; Headache; Hemangioma; Hemiplegia/hemiparesis; Hydrocephalus; Hypercalcemia; Hyperhidrosis; Hypertension; Hypertensive retinopathy; Hypotension; Increased hematocrit; Increased hemoglobin; Increased red blood cell mass; Migraine; Multicystic kidney dysplasia; Multiple renal cysts; Nausea; Nausea and vomiting; Neoplasm; Neoplasm of the pancreas; Neurological speech impairment; Nystagmus; Palpitations; Pancreatic cysts; Papillary cystadenoma of the epididymis; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Peripheral thrombosis; Phenotypic variability; Pheochromocytoma; Plethora; Polycystic kidney dysplasia; Polycythemia; Positive regitine blocking test; Proteinuria; Pulmonary capillary hemangiomatosis; Pulsatile tinnitus; Recurrent paroxysmal headache; Renal artery stenosis; Renal cell carcinoma; Retinal capillary hemangioma; Sensorineural hearing impairment; Sensory neuropathy; Sinus tachycardia; Spinal hemangioblastoma; Sporadic; Stroke; Tachycardia; Telangiectasia of the skin; Tinnitus; Varicose veins; Vertigo; Visceral angiomatosis; Visual impairment; Weight loss


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