XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

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SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Intention tremor

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCB7Xq13.399.99%gene with protein product300135ABC7Abnormality of metabolism/homeostasis; Abnormality of movement; Anemia; Ataxia; Babinski sign; Clonus; Dysarthria; Dysdiadochokinesis; Dysmetria; Global developmental delay; Hyperreflexia; Hypochromic microcytic anemia; Intention tremor; Juvenile onset; Neurological speech impairment; Nonprogressive cerebellar ataxia; Nystagmus; Sideroblastic anemia; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes
ABHD1220p11.2199.99%gene with protein product613599C20orf22Achilles tendon contracture; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Decreased nerve conduction velocity; Distal amyotrophy; Distal sensory impairment; Dysarthria; Dysmetria; Hyperreflexia; Hyporeflexia; Intention tremor; Nystagmus; Onset; Optic atrophy; Pes cavus; Phenotypic variability; Polyneuropathy; Rod-cone dystrophy; Sensorimotor neuropathy; Sensorineural hearing impairment; Slow progression; Spasticity; Subcapsular cataract
AKT114q32.3399.98%gene with protein product164730Abnormal form of the vertebral bodies; Abnormal lung lobation; Abnormal subcutaneous fat tissue distribution; Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system; Abnormality of the penis; Adenoma sebaceum; Adult onset; Angioid streaks of the fundus; Arteriovenous malformation; Asymmetry of the thorax; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Bronchogenic cyst; Cachexia; Calvarial hyperostosis; Capillary hemangiomas; Cataract; Cavernous hemangioma; Cognitive impairment; Colonic diverticula; Colorectal polyposis; Conjunctival hamartoma; Decreased muscle mass; Deep venous thrombosis; Depigmentation/hyperpigmentation of skin; Depressed nasal bridge; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Epibulbar dermoid; Epidermal acanthosis; Epidermal nevus; Facial hyperostosis; Fibroadenoma of the breast; Finger syndactyly; Furrowed tongue; Generalized hyperkeratosis; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hemihypertrophy; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; High palate; Hydrocele testis; Hyperkeratosis; Hypertelorism; Hyperthyroidism; Hypertrophy of skin of soles; Hypoplasia of the maxilla; Hypothyroidism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intention tremor; Irregular hyperpigmentation; Kyphoscoliosis; Kyphosis; Lipoma; Long face; Lower limb asymmetry; Lymphangioma; Lymphedema; Macrocephaly; Macrodactyly; Macroglossia; Macrotia; Macule; Mandibular hyperostosis; Melanocytic nevus; Meningioma; Micrognathia; Mucosal telangiectasiae; Multiple cafe-au-lait spots; Multiple lipomas; Myopia; Narrow mouth; Neoplasm of the stomach; Open mouth; Ovarian cyst; Ovarian papillary adenocarcinoma; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Progressive; Progressive macrocephaly; Ptosis; Pulmonary embolism; Renal cell carcinoma; Round face; Scoliosis; Seizures; Skeletal dysplasia; Skin tags; Somatic mutation; Spinal canal stenosis; Spinal cord compression; Splenomegaly; Sporadic; Subcutaneous lipoma; Subcutaneous nodule; Thin bony cortex; Thrombophlebitis; Thyroid adenoma; Thyroiditis; Transitional cell carcinoma of the bladder; Upper limb asymmetry; Uterine leiomyosarcoma; Varicocele; Vascular skin abnormality; Venous malformation; Visceral angiomatosis
ATCAY19p13.3100%gene with protein product608179Autosomal recessive inheritance; Broad-based gait; Dysarthria; Gait ataxia; Generalized hypotonia; Global developmental delay; Intention tremor; Nystagmus
CCDC88C14q32.11-q32100%gene with protein product611204KIAA1509Adult onset; Autosomal dominant inheritance; Autosomal recessive inheritance; Broad-based gait; Congenital onset; Dysarthria; Dysdiadochokinesis; Hydrocephalus; Hyperreflexia; Intellectual disability; Intention tremor; Pontocerebellar atrophy; Seizures; Slow progression; Spastic paraparesis; Unsteady gait; Ventriculomegaly
CSTB21q22.399.93%gene with protein productXomeDxSlice is not appropriate.601145EPM1, STFBAbsence seizures; Ataxia; Autosomal recessive inheritance; Dysarthria; EEG with polyspike wave complexes; Generalized tonic-clonic seizures; Intention tremor; Limb ataxia; Mental deterioration; Morning myoclonic jerks; Myoclonus
CTDP118q23100%gene with protein product604927Abnormal facial shape; Abnormality of peripheral nerve conduction; Abnormality of the cervical spine; Abnormality of the dentition; Acute rhabdomyolysis; Ataxia; Autosomal recessive inheritance; Babinski sign; Camptodactyly of finger; Cataract; Cerebral atrophy; Cerebral cortical atrophy; Chorea; Cognitive impairment; Congenital cataract; Decreased motor nerve conduction velocity; Decreased serum estradiol; Dysmetria; Genu recurvatum; Global developmental delay; Hypergonadotropic hypogonadism; Hypoglycemia; Hypogonadotrophic hypogonadism; Infantile onset; Intellectual disability; Intellectual disability, mild; Intention tremor; Intrauterine growth retardation; Kyphoscoliosis; Long eyelashes; Malar prominence; Microcornea; Micrognathia; Microphthalmia; Motor axonal neuropathy; Motor delay; Motor polyneuropathy; Nystagmus; Osteoporosis; Paresthesia; Peripheral axonal degeneration; Peripheral demyelination; Peripheral hypomyelination; Pes cavus; Short stature; Split hand; Strabismus; Talipes equinovarusRhabdomyolysis
FAM126A7p15.399.95%gene with protein product610531Abnormal pyramidal signs; Abnormality of the cerebellum; Autosomal recessive inheritance; Babinski sign; Cerebral hypomyelination; Cerebral white matter atrophy; Congenital cataract; Decreased motor nerve conduction velocity; Dysarthria; Global developmental delay; Hyperreflexia; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intention tremor; Leukodystrophy; Loss of ability to walk; Lower limb amyotrophy; Lower limb muscle weakness; Motor delay; Muscular hypotonia of the trunk; Polyneuropathy; Scoliosis; Seizures; Truncal titubation; Variable expressivity
FMR1Xq27.399.84%gene with protein productXomeDxSlice is not appropriate.309550POF1, POFAbnormal head movements; Abnormality of metabolism/homeostasis; Adult onset; Anxiety; Attention deficit hyperactivity disorder; Autism; Bowel incontinence; Bradykinesia; Bulbous nose; Cerebellar atrophy; Cerebral cortical atrophy; Chronic otitis media; Coarse facial features; Congenital macroorchidism; Cryptorchidism; Decreased testicular size; Deeply set eye; Delayed skeletal maturation; Dementia; Depressivity; Diffuse cerebellar atrophy; Diffuse cerebral atrophy; Disinhibition; Dysarthria; Dysautonomia; Dysdiadochokinesis; Dysesthesia; Dysmetria; Failure to thrive; Folate-dependent fragile site at Xq28; Frontal bossing; Gait ataxia; Gastroesophageal reflux; Global developmental delay; Gynecomastia; Hearing impairment; High pitched voice; Hyperactivity; Hypogonadism; Hyporeflexia; Hypothyroidism; Impaired distal vibration sensation; Impotence; Incomplete penetrance; Increased circulating gonadotropin level; Inertia; Intellectual disability, mild; Intellectual disability, moderate; Intention tremor; Intrauterine growth retardation; Joint laxity; Large forehead; Long face; Macrocephaly; Macroorchidism; Macroorchidism, postpubertal; Macrotia; Mandibular prognathia; Mask-like facies; Memory impairment; Menstrual irregularities; Mitral valve prolapse; Muscle weakness; Muscular hypotonia; Myalgia; Narrow face; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Obsessive-compulsive trait; Parkinsonism; Pectus excavatum; Periventricular gray matter heterotopia; Pes planus; Pollakisuria; Poor eye contact; Poor fine motor coordination; Postural tremor; Premature ovarian insufficiency; Protruding ear; Resting tremor; Rigidity; Saccadic smooth pursuit; Scoliosis; Seizures; Short foot; Short stature; Sinusitis; Small hand; Sparse body hair; Thin vermilion border; Truncal obesity; Urinary bladder sphincter dysfunction; Urinary incontinence; X-linked dominant inheritance; X-linked inheritance
FMR1Xq27.399.84%gene with protein productXomeDxSlice is not appropriate.309550POF1, POFAbnormal head movements; Abnormality of metabolism/homeostasis; Adult onset; Anxiety; Attention deficit hyperactivity disorder; Autism; Bowel incontinence; Bradykinesia; Bulbous nose; Cerebellar atrophy; Cerebral cortical atrophy; Chronic otitis media; Coarse facial features; Congenital macroorchidism; Cryptorchidism; Decreased testicular size; Deeply set eye; Delayed skeletal maturation; Dementia; Depressivity; Diffuse cerebellar atrophy; Diffuse cerebral atrophy; Disinhibition; Dysarthria; Dysautonomia; Dysdiadochokinesis; Dysesthesia; Dysmetria; Failure to thrive; Folate-dependent fragile site at Xq28; Frontal bossing; Gait ataxia; Gastroesophageal reflux; Global developmental delay; Gynecomastia; Hearing impairment; High pitched voice; Hyperactivity; Hypogonadism; Hyporeflexia; Hypothyroidism; Impaired distal vibration sensation; Impotence; Incomplete penetrance; Increased circulating gonadotropin level; Inertia; Intellectual disability, mild; Intellectual disability, moderate; Intention tremor; Intrauterine growth retardation; Joint laxity; Large forehead; Long face; Macrocephaly; Macroorchidism; Macroorchidism, postpubertal; Macrotia; Mandibular prognathia; Mask-like facies; Memory impairment; Menstrual irregularities; Mitral valve prolapse; Muscle weakness; Muscular hypotonia; Myalgia; Narrow face; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Obsessive-compulsive trait; Parkinsonism; Pectus excavatum; Periventricular gray matter heterotopia; Pes planus; Pollakisuria; Poor eye contact; Poor fine motor coordination; Postural tremor; Premature ovarian insufficiency; Protruding ear; Resting tremor; Rigidity; Saccadic smooth pursuit; Scoliosis; Seizures; Short foot; Short stature; Sinusitis; Small hand; Sparse body hair; Thin vermilion border; Truncal obesity; Urinary bladder sphincter dysfunction; Urinary incontinence; X-linked dominant inheritance; X-linked inheritance
FXN9q21.11100%gene with protein productXomeDxSlice can detect sequencing variants but not repeat expansions in this gene.606829FRDAAbnormal echocardiogram; Abnormal EKG; Abnormality of visual evoked potentials; Areflexia of lower limbs; Autosomal recessive inheritance; Babinski sign; Cardiomyopathy; Cervical spinal cord atrophy; Congestive heart failure; Decreased amplitude of sensory action potentials; Decreased pyruvate carboxylase activity; Decreased sensory nerve conduction velocity; Diabetes mellitus; Dysarthria; Dysmetria; Falls; Gait ataxia; Gait imbalance; Hand muscle atrophy; Hypertrophic cardiomyopathy; Impaired proprioception; Impaired vibratory sensation; Impaired visually enhanced vestibulo-ocular reflex; Intention tremor; Juvenile onset; Limb ataxia; Mitochondrial malic enzyme reduced; Muscle weakness; Nystagmus; Optic atrophy; Pes cavus; Poor fine motor coordination; Scoliosis; Sensory axonal neuropathy; Sensory neuropathy; Urinary bladder sphincter dysfunction; Visual field defect
GJC21q42.1398.69%gene with protein product608803GJA12Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cellulitis; Cerebral atrophy; Cerebral hypomyelination; Choreoathetosis; Cognitive impairment; Constipation; Decreased motor nerve conduction velocity; Demyelinating motor neuropathy; Distal sensory impairment; Dysarthria; Dysmetria; Dystonia; Facial palsy; Global developmental delay; Head titubation; Hyperreflexia; Incomplete penetrance; Infantile onset; Intention tremor; Leukodystrophy; Lower limb spasticity; Lymphedema; Motor delay; Muscular hypotonia of the trunk; Myopia; Optic atrophy; Pes cavus; Poor speech; Progressive spasticity; Recurrent skin infections; Rigidity; Rotary nystagmus; Scoliosis; Seizures; Sensorineural hearing impairment; Sensory axonal neuropathy; Slow saccadic eye movements; Spastic gait; Spastic paraparesis; Spastic paraplegia; Upper limb spasticity; Urinary incontinence
GJC21q42.1398.69%gene with protein product608803GJA12Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cellulitis; Cerebral atrophy; Cerebral hypomyelination; Choreoathetosis; Cognitive impairment; Constipation; Decreased motor nerve conduction velocity; Demyelinating motor neuropathy; Distal sensory impairment; Dysarthria; Dysmetria; Dystonia; Facial palsy; Global developmental delay; Head titubation; Hyperreflexia; Incomplete penetrance; Infantile onset; Intention tremor; Leukodystrophy; Lower limb spasticity; Lymphedema; Motor delay; Muscular hypotonia of the trunk; Myopia; Optic atrophy; Pes cavus; Poor speech; Progressive spasticity; Recurrent skin infections; Rigidity; Rotary nystagmus; Scoliosis; Seizures; Sensorineural hearing impairment; Sensory axonal neuropathy; Slow saccadic eye movements; Spastic gait; Spastic paraparesis; Spastic paraplegia; Upper limb spasticity; Urinary incontinence
GSS20q11.22100%gene with protein product601002Ataxia; Autosomal recessive inheritance; Chronic metabolic acidosis; Dysarthria; Glutathione synthetase deficiency; Glyoxalase deficiency; Hemolytic anemia; Increased level of L-pyroglutamic acid in urine; Intellectual disability; Intention tremor; Neutropenia; Pigmentary retinopathy; Psychotic mentation; Seizures; Spastic tetraparesisHemolytic Anemia
ITM2B13q14.299.99%gene with protein product603904BRI2Ataxia; Autosomal dominant inheritance; Cerebral amyloid angiopathy; Dementia; Hearing impairment; Hypertonia; Intention tremor; Neurofibrillary tangles; Optic disc pallor; Photophobia; Posterior polar cataract; Progressive neurologic deterioration; Psychosis; Retinal dystrophy; Rigidity; Spasticity; Tremor
KCNJ101q23.2100%gene with protein product602208Abnormality of metabolism/homeostasis; Abnormality of the mitochondrion; Abnormality of the renal tubule; Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cochlear malformation; Compensated hypothyroidism; Congenital sensorineural hearing impairment; Delayed speech and language development; Dysdiadochokinesis; Enlarged vestibular aqueduct; Enuresis; Failure to thrive; Generalized hypotonia; Global developmental delay; Goiter; Hyperaldosteronism; Hypocalciuria; Hypokalemia; Hypokalemic metabolic alkalosis; Hypomagnesemia; Hypoplasia of the cochlea; Hypothyroidism; Increased circulating renin level; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intention tremor; Muscular hypotonia; Polydipsia; Polyuria; Renal potassium wasting; Renal salt wasting; Renal sodium wasting; Salt craving; Seizures; Sensorineural hearing impairment; Thyroid carcinoma; Vestibular dysfunction
PIK3CA3q26.3299.76%gene with protein product171834Abdominal pain; Abnormality of cardiovascular system morphology; Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system; Abnormality of the cerebral vasculature; Abnormality of the penis; Adenoma sebaceum; Adult onset; Alveolar cell carcinoma; Angioid streaks of the fundus; Anxiety; Aplasia/Hypoplasia of the cerebellum; Arteriovenous malformation; Asymmetric growth; Ataxia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast carcinoma; Broad forehead; Capillary malformation; Cataract; Cavernous hemangioma; Cavum septum pellucidum; Cognitive impairment; Colon cancer; Colonic diverticula; Colorectal polyposis; Conjunctival hamartoma; Constipation; Cranial hyperostosis; Cutis marmorata; Death in early adulthood; Death in infancy; Depressed nasal bridge; Depressivity; Downslanted palpebral fissures; Dysgerminoma; Epicanthus; Facial asymmetry; Failure to thrive; Fatigue; Fibroadenoma of the breast; Finger syndactyly; Foot polydactyly; Frontal bossing; Full cheeks; Furrowed tongue; Gastrointestinal hemorrhage; Generalized hyperkeratosis; Generalized hypotonia; Glioblastoma multiforme; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hand polydactyly; Hearing impairment; Hemihypertrophy; Hepatocellular carcinoma; Hereditary nonpolyposis colorectal carcinoma; Hernia; Heterogeneous; High forehead; High palate; Hydrocele testis; Hydrocephalus; Hypermelanotic macule; Hypertelorism; Hyperthyroidism; Hypertonia; Hypoplasia of the maxilla; Hypothyroidism; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intention tremor; Irritability; Joint hyperflexibility; Joint laxity; Kyphosis; Large earlobe; Leukemia; Lipoma; Macrocephaly; Macrodactyly; Macroglossia; Macule; Malabsorption; Megalencephaly; Melanocytic nevus; Meningioma; Micrognathia; Micronodular cirrhosis; Microphthalmia; Migraine; Mucosal telangiectasiae; Muscular hypotonia; Myopia; Narrow mouth; Nausea and vomiting; Neoplasm of the rectum; Neoplasm of the stomach; Nephroblastoma; Nevus flammeus; Numerous nevi; Ovarian cyst; Ovarian papillary adenocarcinoma; Overgrowth; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Polydactyly; Polymicrogyria; Progressive macrocephaly; Renal cell carcinoma; Sandal gap; Scoliosis; Seizures; Skin tags; Smooth philtrum; Somatic mutation; Splenomegaly; Sporadic; Stomach cancer; Subacute progressive viral hepatitis; Subcutaneous lipoma; Subcutaneous nodule; Syndactyly; Telangiectasia of the skin; Thyroid adenoma; Thyroiditis; Toe syndactyly; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma; Varicocele; Venous malformation; Ventricular septal defect; Ventriculomegaly; Verrucae; Visceral angiomatosis; Weight loss; Wide mouth
PLA2G622q13.1100%gene with protein product603604Abnormal pyramidal signs; Abnormality of metabolism/homeostasis; Abnormality of visual evoked potentials; Aggressive behavior; Ataxia; Autosomal recessive inheritance; Babinski sign; Bradykinesia; Cachexia; Cerebellar atrophy; Cerebral atrophy; Childhood onset; Chorea; Clumsiness; Delayed speech and language development; Depressivity; Developmental regression; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Dystonia; Elevated serum creatine phosphokinase; EMG: chronic denervation signs; Emotional lability; Feeding difficulties; Frontal bossing; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait ataxia; Generalized hypotonia; Generalized muscle weakness; Gliosis; Global brain atrophy; Global developmental delay; Hearing impairment; Hyperactivity; Hyperreflexia; Impaired smooth pursuit; Impulsivity; Infantile onset; Intellectual disability; Intention tremor; Mental deterioration; Micrognathia; Morphological abnormality of the pyramidal tract; Muscular hypotonia; Neurodegeneration; Neurofibrillary tangles; Neuronal loss in central nervous system; Nystagmus; Optic atrophy; Parkinsonism; Personality changes; Phenotypic variability; Postural instability; Progressive; Prominent forehead; Rapidly progressive; Rigidity; Seizures; Short attention span; Short nose; Spastic tetraplegia; Spasticity; Strabismus; Supranuclear gaze palsy; Talipes calcaneovalgus; Tremor; Unsteady gait; Visual impairment; Visual loss
PNPLA619p13.299.99%gene with protein product603197Abnormal electroretinogram; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the antitragus; Abnormality of the hand; Abnormality of the hypothalamus-pituitary axis; Areflexia; Ataxia; Atrophy of the spinal cord; Autosomal recessive inheritance; Babinski sign; Central heterochromia; Cerebellar atrophy; Chorioretinal dystrophy; Cryptorchidism; Decreased fertility; Delayed puberty; Distal amyotrophy; Distal lower limb muscle weakness; Distal muscle weakness; Finger syndactyly; Gait disturbance; Growth hormone deficiency; Gynecomastia; Hand polydactyly; Hemiplegia/hemiparesis; Hyperreflexia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hyporeflexia; Intellectual disability; Intention tremor; Juvenile onset; Long eyebrows; Long eyelashes; Micropenis; Muscular hypotonia; Neurological speech impairment; Nystagmus; Obesity; Optic atrophy; Peripheral axonal neuropathy; Phenotypic variability; Photophobia; Pigmentary retinopathy; Progressive; Progressive spastic paraplegia; Progressive visual loss; Renal insufficiency; Retinal dystrophy; Scanning speech; Scrotal hypoplasia; Sensorineural hearing impairment; Severe short stature; Short stature; Small for gestational age; Spastic paraplegia; Spinocerebellar atrophyObesity
POLR3B12q23.399.99%gene with protein product614366Abnormal upper motor neuron morphology; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; Cerebral hypomyelination; CNS hypomyelination; Cryptorchidism; Decreased testicular size; Delayed eruption of teeth; Delayed puberty; Drooling; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Dystonia; Global developmental delay; Gynecomastia; Horizontal nystagmus; Hypergonadotropic hypogonadism; Hyperreflexia; Hypodontia; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Impaired horizontal smooth pursuit; Intellectual disability, mild; Intention tremor; Leukodystrophy; Micropenis; Myopia; Oligodontia; Phenotypic variability; Postural tremor; Primary amenorrhea; Progressive; Short stature; Sparse axillary hair; Sparse pubic hair; Spasticity
PRICKLE112q12100%gene with protein product608500Atonic seizures; Autosomal recessive inheritance; Babinski sign; Dysarthria; Dysmetria; EEG with polyspike wave complexes; Generalized myoclonic seizures; Intention tremor; Limb ataxia; Morning myoclonic jerks; Progressive; Sensory axonal neuropathy; Tremor
PTEN10q23.3199.95%gene with protein productPromoter/regulatory variants are not captured by XomeDxSlice. 601728BZS, MHAMAbnormal form of the vertebral bodies; Abnormal heart morphology; Abnormal lung lobation; Abnormal pupil morphology; Abnormal subcutaneous fat tissue distribution; Abnormal vertebral morphology; Abnormality of metabolism/homeostasis; Abnormality of the eye; Abnormality of the fallopian tube; Abnormality of the large intestine; Abnormality of the parathyroid gland; Abnormality of the penis; Abnormality of the vasculature; Abnormally prominent line of Schwalbe; Absent thumb; Acanthosis nigricans; Acrokeratosis; Adenoma sebaceum; Adult onset; Amblyopia; Anal atresia; Angioid streaks of the fundus; Angiokeratoma; Aqueductal stenosis; Arteriovenous malformation; Asymmetry of the thorax; Ataxia; Atypical nevi in non-sun exposed areas; Atypical nevus; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Birth length greater than 97th percentile; Breast carcinoma; Broad forehead; Bronchogenic cyst; Cachexia; Cafe-au-lait spot; Calvarial hyperostosis; Capillary hemangiomas; Cataract; Cavernous hemangioma; Cognitive impairment; Colonic diverticula; Colorectal polyposis; Communicating hydrocephalus; Conjunctival hamartoma; Cranial nerve paralysis; Cutaneous melanoma; Decreased muscle mass; Delayed gross motor development; Delayed speech and language development; Depressed nasal bridge; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dysplastic gangliocytoma of the cerebellum; Endometrial carcinoma; Enlarged cerebellum; Epibulbar dermoid; Epidermal nevus; Excessive wrinkled skin; Exostoses; Fibroadenoma of the breast; Finger syndactyly; Follicular thyroid carcinoma; Frontal bossing; Furrowed tongue; Generalized hyperkeratosis; Generalized hypotonia; Genu recurvatum; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hand polydactyly; Hashimoto thyroiditis; Headache; Hearing impairment; Hemangioma; Hematochezia; Heterochromia iridis; High palate; Hydrocele testis; Hydrocephalus; Hyperostosis; Hypertelorism; Hyperthyroidism; Hypoglycemia; Hypoplasia of the maxilla; Hypothyroidism; Increased intracranial pressure; Intellectual disability; Intellectual disability, mild; Intention tremor; Intestinal polyposis; Intraocular melanoma; Intussusception; Irregular hyperpigmentation; Joint hypermobility; Juvenile onset; Kyphosis; Lipoma; Long penis; Long philtrum; Lower limb asymmetry; Lymphangioma; Lymphedema; Macrocephaly; Macrodactyly; Macroglossia; Macrotia; Macule; Mandibular prognathia; Melanocytic nevus; Meningioma; Micrognathia; Mucosal telangiectasiae; Multiple cafe-au-lait spots; Multiple lipomas; Myopathy; Myopia; Narrow mouth; Nausea and vomiting; Neoplasm of the breast; Neoplasm of the thyroid gland; Nevus; Non-medullary thyroid carcinoma; Numerous nevi; Obesity; Open bite; Ovarian carcinoma; Ovarian cyst; Ovarian neoplasm; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Polymicrogyria; Postnatal growth retardation; Postnatal macrocephaly; Primary peritoneal carcinoma; Progressive macrocephaly; Pseudopapilledema; Pulmonary embolism; Radial club hand; Reduced bone mineral density; Renal hypoplasia; Respiratory failure; Retinal detachment; Round face; Scoliosis; Seizures; Shagreen patch; Short nose; Short stature; Skeletal dysplasia; Skin tags; Squamous cell carcinoma; Stillbirth; Strabismus; Subcutaneous hemorrhage; Subcutaneous lipoma; Subcutaneous nodule; Supernumerary nipple; Thick corpus callosum; Thrombophlebitis; Thyroid adenoma; Thyroiditis; Transitional cell carcinoma of the bladder; Trichilemmoma; Upper limb asymmetry; Varicocele; Vascular skin abnormality; Venous insufficiency; Visceral angiomatosisInflammatory Bowel Disease ; Obesity; VACTERL Association
RARS5q3499.65%gene with protein product107820Abnormality of extrapyramidal motor function; Autosomal recessive inheritance; Dysarthria; Dysmetria; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability; Intention tremor; Leukodystrophy; Microcephaly; Nystagmus; Variable expressivity
SCARB24q21.1100%gene with protein product602257CD36L2Abdominal pain; Anemia; Anorexia; Aseptic necrosis; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Cerebellar atrophy; Delayed puberty; Delayed skeletal maturation; Dysarthria; Dysphagia; EEG with polyspike wave complexes; Focal segmental glomerulosclerosis; Gait ataxia; Generalized seizures; Gingival bleeding; Hepatomegaly; Hypersplenism; Increased bone mineral density; Intention tremor; Kyphosis; Limb ataxia; Morning myoclonic jerks; Myoclonus; Nephropathy; Nephrotic syndrome; Osteolysis; Osteopenia; Pancytopenia; Postural tremor; Proteinuria; Rapidly progressive; Renal insufficiency; Splenomegaly; Thrombocytopenia
SCARB24q21.1100%gene with protein product602257CD36L2Abdominal pain; Anemia; Anorexia; Aseptic necrosis; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Cerebellar atrophy; Delayed puberty; Delayed skeletal maturation; Dysarthria; Dysphagia; EEG with polyspike wave complexes; Focal segmental glomerulosclerosis; Gait ataxia; Generalized seizures; Gingival bleeding; Hepatomegaly; Hypersplenism; Increased bone mineral density; Intention tremor; Kyphosis; Limb ataxia; Morning myoclonic jerks; Myoclonus; Nephropathy; Nephrotic syndrome; Osteolysis; Osteopenia; Pancytopenia; Postural tremor; Proteinuria; Rapidly progressive; Renal insufficiency; Splenomegaly; Thrombocytopenia
SCP21p32.399.82%gene with protein product184755Abnormal motor neuron morphology; Abnormality of saccadic eye movements; Abnormality of thalamus morphology; Autosomal recessive inheritance; Azoospermia; Head tremor; Hypergonadotropic hypogonadism; Hyposmia; Intention tremor; Leukoencephalopathy; Peripheral neuropathy; Torticollis
SPTBN211q13.2100%gene with protein product604985SCA5Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cognitive impairment; Delayed speech and language development; Dysarthria; Dysdiadochokinesis; Dysmetria; Facial myokymia; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Global developmental delay; Hyperreflexia; Impaired smooth pursuit; Impaired vibratory sensation; Incoordination; Infantile onset; Intellectual disability, mild; Intention tremor; Limb ataxia; Progressive cerebellar ataxia; Progressive gait ataxia; Slow progression; Slurred speech; Truncal ataxia
SPTBN211q13.2100%gene with protein product604985SCA5Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cognitive impairment; Delayed speech and language development; Dysarthria; Dysdiadochokinesis; Dysmetria; Facial myokymia; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Global developmental delay; Hyperreflexia; Impaired smooth pursuit; Impaired vibratory sensation; Incoordination; Infantile onset; Intellectual disability, mild; Intention tremor; Limb ataxia; Progressive cerebellar ataxia; Progressive gait ataxia; Slow progression; Slurred speech; Truncal ataxia
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
TENM411q14.1100%gene with protein product610084ODZ4Age-dependent penetrance; Autosomal dominant inheritance; Intention tremor; Postural tremor; Slow progression; Variable expressivity
TGM620p13100%gene with protein product613900TGM3LAbnormality of the orbital region; Adult onset; Autosomal dominant inheritance; Babinski sign; Cerebellar atrophy; Difficulty walking; Dysarthria; Dysmetria; Gait ataxia; Hyperreflexia; Incoordination; Intention tremor; Limb ataxia; Neck muscle weakness; Progressive cerebellar ataxia; Slow progression; Torticollis
TGM620p13100%gene with protein product613900TGM3LAbnormality of the orbital region; Adult onset; Autosomal dominant inheritance; Babinski sign; Cerebellar atrophy; Difficulty walking; Dysarthria; Dysmetria; Gait ataxia; Hyperreflexia; Incoordination; Intention tremor; Limb ataxia; Neck muscle weakness; Progressive cerebellar ataxia; Slow progression; Torticollis
VLDLR9p24.2100%gene with protein product192977Abnormality of metabolism/homeostasis; Ataxia; Autosomal recessive inheritance; Broad-based gait; Cataract; Cerebellar atrophy; Cerebellar hypoplasia; Cerebral palsy; Congenital onset; Cortical gyral simplification; Delayed speech and language development; Dysarthria; Dysdiadochokinesis; Dysmetria; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Generalized hypotonia; Global developmental delay; Hyperreflexia; Hypoplasia of the brainstem; Intellectual disability; Intention tremor; Muscular hypotonia; Nonprogressive; Pachygyria; Pes planus; Poor speech; Seizures; Short stature; Skeletal muscle atrophy; Strabismus; Truncal ataxia
VWA3B2q11.2100%gene with protein product614884Abnormal pyramidal signs; Autosomal recessive inheritance; Cerebellar atrophy; Dysarthria; Dysmetria; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability; Intention tremor; Lower limb spasticity; Nystagmus; Slow progression; Truncal ataxia; Unsteady gait


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