XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

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You may also use this search to review average exome sequencing coverage by entering the gene symbol below.

SELECTED GENES FOR YOUR SLICE

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Phenotypes
Tinnitus

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AIFM1Xq26.1100%gene with protein product300169PDCD8, NAMSDAbnormal middle ear reflexes; Abnormal speech discrimination; Abnormality of the striatum; Areflexia; Decreased nerve conduction velocity; Delayed speech and language development; Developmental regression; Distal muscle weakness; Distal sensory impairment; Generalized hypotonia; Generalized muscle weakness; Hearing impairment; Hypokinesia; Impaired pain sensation; Increased connective tissue; Increased CSF lactate; Increased serum lactate; Increased serum pyruvate; Increased variability in muscle fiber diameter; Intellectual disability; Irritability; Kyphosis; Moderate global developmental delay; Pes cavus; Respiratory distress; Respiratory insufficiency; Scoliosis; Sensorimotor neuropathy; Sensory axonal neuropathy; Sensory neuropathy; Severe muscular hypotonia; Skeletal muscle atrophy; Tinnitus; Tongue fasciculations; Unsteady gait; X-linked recessive inheritance
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
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
DSPP4q22.1100%gene with protein product125485DFNA39, DGI1Autosomal dominant inheritance; Bilateral sensorineural hearing impairment; Dentinogenesis imperfecta; Dentinogenesis imperfecta limited to primary teeth; High-frequency hearing impairment; Periapical bone loss; Pulp stones; Shell teeth; Tinnitus
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
KCNQ41p34.298.36%gene with protein product603537DFNA2Autosomal dominant inheritance; Hearing impairment; Progressive; Tinnitus
MFN21p36.22100%gene with protein product608507Abnormality of color vision; Abnormality of visual evoked potentials; Anosmia; Areflexia; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal degeneration/regeneration; Babinski sign; Central scotoma; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Delayed gross motor development; Difficulty walking; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Distal sensory impairment of all modalities; Dysmetric saccades; Flexion contracture; Foot dorsiflexor weakness; Gait disturbance; Hammertoe; Hepatomegaly; Hyporeflexia; Incomplete penetrance; Infantile onset; Insulin resistance; Joint stiffness; Kyphosis; Limb muscle weakness; Lumbar hyperlordosis; Multiple lipomas; Onion bulb formation; Optic atrophy; Optic disc pallor; Pain; Paresthesia; Peripheral axonal atrophy; Peripheral axonal neuropathy; Pes cavus; Positive Romberg sign; Proximal muscle weakness; Reduced tendon reflexes; Scoliosis; Slow decrease in visual acuity; Slow progression; Steppage gait; Tinnitus; Variable expressivity; Vocal cord paresis
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
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
OSBPL220q13.33100%gene with protein product606731Autosomal dominant inheritance; Phenotypic variability; Sensorineural hearing impairment; Tinnitus
P2RX212q24.3399.93%gene with protein product600844DFNA41Autosomal dominant inheritance; Hearing impairment; Progressive sensorineural hearing impairment; Tinnitus
SDHB1p36.13100%gene with protein product185470SDH1, SDHAbdominal pain; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Cafe-au-lait spot; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Congenital cataract; Congestive heart failure; Conjunctival hamartoma; Constipation; Cranial nerve paralysis; Dysphagia; Dysphonia; Elevated urinary catecholamines; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Endometrial carcinoma; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Goiter; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hypercalcemia; Hyperhidrosis; Hyperpigmentation of the skin; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Incomplete penetrance; Intellectual disability; Intestinal obstruction; Large hands; Lipoma; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Nausea; Nausea and vomiting; Neoplasm; Neoplasm of the gastrointestinal tract; Neoplasm of the stomach; Neurofibromas; Palmoplantar keratoderma; Palpitations; Papillary thyroid carcinoma; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Pheochromocytoma; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Renal artery stenosis; Renal cell carcinoma; Sarcoma; Sinus tachycardia; Sporadic; Subcutaneous nodule; Tachycardia; Tinnitus; Urticaria; Uterine leiomyoma; Weight loss
SDHC1q23.3100%gene with protein product602413PGL3Abdominal pain; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Conjunctival hamartoma; Constipation; Cranial nerve paralysis; Dysphagia; Dysphonia; Elevated circulating catecholamine level; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Goiter; Hamartomatous polyposis; Hearing impairment; Hoarse voice; Hypercalcemia; Hyperhidrosis; Hyperpigmentation of the skin; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Intellectual disability; Intestinal obstruction; Large hands; Lipoma; Loss of voice; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Nausea; Nausea and vomiting; Neoplasm of the gastrointestinal tract; Neoplasm of the stomach; Neurofibromas; Palmoplantar keratoderma; Palpitations; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Sarcoma; Sinus tachycardia; Sporadic; Subcutaneous nodule; Tachycardia; Tinnitus; Urticaria; Vocal cord paralysis; Weight loss
SDHD11q23.199.87%gene with protein product602690PGL, PGL1Abdominal pain; Abnormal mitochondria in muscle tissue; Abnormality of mitochondrial metabolism; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Breast carcinoma; Cafe-au-lait spot; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Conductive hearing impairment; Congenital cataract; Congestive heart failure; Conjunctival hamartoma; Cranial nerve paralysis; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dysphagia; Dysphonia; Dystonia; Elevated circulating catecholamine level; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Erythematous plaque; Exercise intolerance; Extraadrenal pheochromocytoma; Fatigue; Flexion contracture; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Glomus tympanicum paraganglioma; Goiter; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hoarse voice; Hypercalcemia; Hyperhidrosis; Hyperreflexia; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Hypertrophic cardiomyopathy; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Intestinal carcinoid; Intestinal obstruction; Left ventricular noncompaction; Leukoencephalopathy; Lipoma; Loss of voice; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Muscle weakness; Myoclonus; Nausea; Neonatal hypotonia; Neoplasm; Neoplasm of the gastrointestinal tract; Neoplasm of the thyroid gland; Night sweats; Nystagmus; Ophthalmoplegia; Optic atrophy; Palmoplantar keratoderma; Palpitations; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Phenotypic variability; Pheochromocytoma; Pigmentary retinopathy; Positive regitine blocking test; Progressive leukoencephalopathy; Proteinuria; Protracted diarrhea; Ptosis; Pulsatile tinnitus; Ragged-red muscle fibers; Recurrent paroxysmal headache; Renal artery stenosis; Renal cell carcinoma; Seizures; Short stature; Sinus tachycardia; Small intestine carcinoid; Spasticity; Stress/infection-induced lactic acidosis; Subcutaneous nodule; Tachycardia; Tinnitus; Uterine leiomyoma; Vagal paraganglioma; Visual impairment; Vocal cord paralysis; Weight loss
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
TMC19q21.13100%gene with protein product606706DFNA36, DFNB7, DFNB11Autosomal dominant inheritance; Autosomal recessive inheritance; Sensorineural hearing impairment; Tinnitus
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