XomeDxSlice Tool

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

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Phenotypes
Abnormality of the eye

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ALS22q33.1100%gene with protein product606352ALS2CR6Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of eye movement; Abnormality of the corticospinal tract; Abnormality of the eye; Abnormality of the face; Achilles tendon contracture; Amyotrophic lateral sclerosis; Anarthria; Autosomal recessive inheritance; Babinski sign; Cerebral cortical atrophy; Chewing difficulties; Childhood onset; Decreased muscle mass; Difficulty in tongue movements; Distal amyotrophy; Drooling; Dysarthria; Dysphagia; EMG abnormality; EMG: chronic denervation signs; Gait disturbance; Gait imbalance; Hand muscle atrophy; Hyperreflexia; Infantile onset; Juvenile onset; Loss of speech; Lower limb spasticity; Motor delay; Muscle weakness; Pes cavus; Progressive; Pseudobulbar behavioral symptoms; Saccadic smooth pursuit; Scoliosis; Slow progression; Slow saccadic eye movements; Spastic dysarthria; Spastic gait; Spastic paraplegia; Spastic tetraparesis; Spastic tetraplegia; Spasticity; Spasticity of facial muscles; Spasticity of pharyngeal muscles; Tetraplegia; Upper limb spasticity; Urinary incontinence
APOE19q13.32100%gene with protein productSusceptibility alleles will not be reported.107741AD2Abnormality of the eye; Absent axillary hair; Alzheimer disease; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Cerebral amyloid angiopathy; Cirrhosis; Corneal arcus; Decreased circulating high-density lipoprotein levels; Dementia; Diabetes mellitus; Edema; Glomerulopathy; Hepatic steatosis; Hepatomegaly; Hypercholesterolemia; Hypertriglyceridemia; Increased circulating low-density lipoprotein levels; Late onset; Long-tract signs; Mediastinal lymphadenopathy; Mesangial hypercellularity; Middle age onset; Neurofibrillary tangles; Obesity; Parkinsonism; Petechiae; Proteinuria; Pulmonary infiltrates; Renal insufficiency; Sea-blue histiocytosis; Sleep-wake cycle disturbance; Splenomegaly; Subcutaneous nodule; Tendon xanthomatosis; Thrombocytopenia; Type IV atherosclerotic lesion; Xanthelasma
CDH2310q22.1100%gene with protein product605516DFNB12, USH1DAbnormal cochlea morphology; Abnormal electroretinogram; Abnormality of hair density; Abnormality of the eye; Abnormality of the menstrual cycle; Acne; Adrenal hyperplasia; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Amenorrhea; Anxiety; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Bruising susceptibility; Cataract; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Depressivity; Diabetes mellitus; Dyspareunia; Easy fatigability; Enlarged pituitary gland; Failure to thrive; Fatigue; Female hypogonadism; Galactorrhea; Generalized hirsutism; Global developmental delay; Goiter; Gynecomastia; Headache; Hearing impairment; Hemianopia; High hypermetropia; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Immunodeficiency; Impotence; Increased thyroid-stimulating hormone level; Infertility; Intellectual disability; Iris hypopigmentation; Lipodystrophy; Male hypogonadism; Menorrhagia; Metrorrhagia; Nephrolithiasis; Nyctalopia; Osteopenia; Osteoporosis; Pallor; Palpitations; Pituitary adenoma; Pituitary hypothyroidism; Prelingual sensorineural hearing impairment; Progressive visual loss; Recurrent fractures; Rod-cone dystrophy; Round face; Schizophrenia; Scotoma; Secondary growth hormone deficiency; Sensorineural hearing impairment; Thin skin; Thyroid crisis; Tremor; Truncal obesity; Vestibular dysfunction; Vestibular hypofunction; Visual loss; Vomiting; Weight loss
COL11A26p21.32100%gene with protein product120290DFNA13, DFNB53Abnormal diaphysis morphology; Abnormal form of the vertebral bodies; Abnormality of pelvic girdle bone morphology; Abnormality of the eye; Abnormality of the metaphysis; Abnormality of the skin; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Arthralgia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Beaking of vertebral bodies; Bell-shaped thorax; Brachydactyly; Broad ribs; Bulbous nose; Cleft palate; Conductive hearing impairment; Coronal cleft vertebrae; Delayed gross motor development; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Dumbbell-shaped long bone; Enlarged epiphyses; Enlarged joints; Epiphyseal dysplasia; Feeding difficulties in infancy; Flared metaphysis; Flexion contracture; Global developmental delay; Glossoptosis; Hearing abnormality; Hyperlordosis; Hypertelorism; Hypoplastic fingernail; Hypoplastic ilia; Hypoplastic ischia; Hypoplastic pubic bone; Hypoplastic scapulae; Joint stiffness; Kyphosis; Large tarsal bones; Long philtrum; Low-set ears; Lumbar hyperlordosis; Malar flattening; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mixed hearing impairment; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow mouth; Osteoarthritis; Pierre-Robin sequence; Platyspondyly; Premature osteoarthritis; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Recurrent pneumonia; Respiratory insufficiency; Rhizomelia; Round face; Sensorineural hearing impairment; Short femur; Short long bone; Short metacarpal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Submucous cleft soft palate; Thoracic hypoplasia; Wide anterior fontanel
CYP24A120q13.299.7%gene with protein product126065CYP24Abnormality of the eye; Aortic valve stenosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Dehydration; Elfin facies; Failure to thrive; Generalized hypotonia; Hypercalciuria; Infantile hypercalcemia; Intellectual disability; Lethargy; Nephrocalcinosis; Polyuria; Pulmonic stenosis; Thick lower lip vermilion; Vomiting; Weight loss
KIF1A2q37.3100%gene with protein product601255ATSV, C2orf20, SPG30Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of eye movement; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of saccadic eye movements; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Abnormality of the palate; Abnormality of upper lip; Acral ulceration leading to autoamputation of digits; Anhidrosis; Ankle clonus; Anteverted nares; Areflexia; Ataxia; Atrophy/Degeneration affecting the brainstem; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Biparietal narrowing; Cerebellar atrophy; Cerebral cortical atrophy; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Distal amyotrophy; Distal sensory impairment; Drowsiness; Dysmetria; Dystrophic fingernails; Dystrophic toenail; Edema of the lower limbs; Epicanthus; Episodic hyperhidrosis; External ear malformation; Feeding difficulties; Feeding difficulties in infancy; Foot acroosteolysis; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hydrocephalus; Hyperhidrosis; Hyperlordosis; Hyperreflexia; Hyporeflexia; Hypsarrhythmia; Infantile onset; Infantile spasms; Intellectual disability, severe; Leg muscle stiffness; Limitation of joint mobility; Lower limb amyotrophy; Lower limb hyperreflexia; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Malar flattening; Microcephaly; Midface retrusion; Open mouth; Optic atrophy; Osteolytic defects of the phalanges of the hand; Painless fractures due to injury; Palpebral edema; Paronychia; Peripheral axonal neuropathy; Peripheral edema; Peripheral neuropathy; Porencephalic cyst; Progressive; Progressive spastic paraplegia; Recurrent respiratory infections; Reduced bone mineral density; Scissor gait; Sensorimotor neuropathy; Severe muscular hypotonia; Short nose; Skeletal muscle atrophy; Slow progression; Spastic gait; Spastic paraplegia; Tapered finger; Unsteady gait; Urinary bladder sphincter dysfunction; Variable expressivity; Ventriculomegaly; Visual loss; Wormian bones
LAMA318q11.299.98%gene with protein product600805LAMNAAbnormal blistering of the skin; Abnormality of skin pigmentation; Abnormality of the eye; Amelogenesis imperfecta; Anemia; Anonychia; Aplasia cutis congenita; Atrophic scars; Autosomal recessive inheritance; Camptodactyly of finger; Carious teeth; Congenital localized absence of skin; Congenital onset; Death in infancy; Dehydration; Dyspnea; Esophageal stricture; Failure to thrive; Feeding difficulties; Fragile nails; Heterogeneous; Hoarse cry; Hoarse voice; Hypodontia; Hypoplasia of dental enamel; Infantile onset; Junctional split; Laryngeal stenosis; Laryngeal stridor; Milia; Nail dysplasia; Nail dystrophy; Oral mucosal blisters; Palmar hyperhidrosis; Paronychia; Plantar hyperkeratosis; Pyloric stenosis; Recurrent loss of toenails and fingernails; Scarring alopecia of scalp; Skin erosion; Skin ulcer; Sparse body hair; Weak cryPalmoplantar keratoderma plus congenital ichthyosis
MPZ1q23.3100%gene with protein product159440CMT1, CMT1BAbnormality of the cranial nerves; Abnormality of the eye; Abnormality of the immune system; Abnormality of the respiratory system; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal degeneration/regeneration; Cold-induced muscle cramps; Congenital onset; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysphagia; Foot dorsiflexor weakness; Gait ataxia; Gait disturbance; Generalized hypotonia; Hammertoe; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Increased CSF protein; Infantile onset; Insidious onset; Juvenile onset; Kyphoscoliosis; Motor delay; Myelin outfoldings; Neonatal hypotonia; Onion bulb formation; Peripheral demyelination; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Progressive sensorineural hearing impairment; Segmental peripheral demyelination/remyelination; Sensorineural hearing impairment; Sensory ataxia; Slow progression; Split hand; Steppage gait; Tonic pupil; Ulnar claw; Upper limb muscle weakness; Upper limb postural tremor; Variable expressivity
MYH922q12.3100%gene with protein product160775DFNA17Abnormal thrombosis; Abnormality of the eye; Abnormality of the urinary system; Autosomal dominant inheritance; Bruising susceptibility; Cataract; Congenital cataract; Epistaxis; Gastrointestinal hemorrhage; Giant platelets; Hematuria; High-frequency hearing impairment; High-frequency sensorineural hearing impairment; Hypertension; Juvenile onset; Leukocyte inclusion bodies; Macrothrombocytopenia; Menorrhagia; Microscopic hematuria; Myocardial infarction; Nephritis; Neutrophil inclusion bodies; Progressive sensorineural hearing impairment; Prolonged bleeding time; Proteinuria; Stage 5 chronic kidney disease; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
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
NEB2q23.387.76%gene with protein product161650NEM2Abnormality of the eye; Abnormality of the rib cage; Apnea; Areflexia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Bulbar palsy; Cleft palate; Congenital contracture; Decreased fetal movement; Dysphagia; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Feeding difficulties; Frequent falls; Generalized muscle weakness; Heterogeneous; High palate; Hyperlordosis; Hyporeflexia; Infantile onset; Late-onset distal muscle weakness; Limb muscle weakness; Low-set ears; Mildly elevated creatine phosphokinase; Motor delay; Myopathic facies; Neck flexor weakness; Nemaline bodies; Neonatal hypotonia; Polyhydramnios; Proximal muscle weakness; Respiratory insufficiency due to muscle weakness; Scoliosis; Slender build; Spinal rigidity; Type 1 muscle fiber predominance; Waddling gaitRhabdomyolysis
PEX141p36.22100%gene with protein product601791Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the eye; Abnormality of the liver; Abnormality of the nasal bridge; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Delayed closure of the anterior fontanelle; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Large fontanelles; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PRKAR1A17q24.2100%gene with protein product188830PRKAR1, TSE1Abnormal form of the vertebral bodies; Abnormal prolactin level; Abnormality of circulating adrenocorticotropin level; Abnormality of female external genitalia; Abnormality of immune system physiology; Abnormality of the eye; Abnormality of the nail; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Adrenal hyperplasia; Agitation; Anteverted nares; Anxiety; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bacterial endocarditis; Blue irides; Blue nevus; Brachycephaly; Brachydactyly; Broad nasal tip; Broad palm; Bruising susceptibility; Calvarial hyperostosis; Cardiac myxoma; Cerebral venous thrombosis; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Congenital craniofacial dysostosis; Congenital hypothyroidism; Congestive heart failure; Cryptorchidism; Decreased circulating ACTH level; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Depressivity; Diabetes mellitus; Dislocated radial head; Disproportionate short-limb short stature; Easy fatigability; Elevated calcitonin; Elevated circulating parathyroid hormone level; Enlarged polycystic ovaries; Epicanthus; Epiphyseal stippling; Exertional dyspnea; Fatigue; Freckling; Global developmental delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Heart murmur; Heterogeneous; Hirsutism; Hydrocephalus; Hyperactivity; Hyperphosphatemia; Hypertelorism; Hypertension; Hypocalcemia; Hypodontia; Hypogonadism; Hypoplasia of the maxilla; Hypoplasia of the nasal bone; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic vertebral bodies; Hypospadias; Increased circulating cortisol level; Increased intracranial pressure; Increased susceptibility to fractures; Increased urinary cortisol level; Intellectual disability; Intrauterine growth retardation; Kyphosis; Long hallux; Malar flattening; Mandibular prognathia; Melanocytic nevus; Menstrual irregularities; Mental deterioration; Micromelia; Midface retrusion; Mild postnatal growth retardation; Mild short stature; Mood changes; Multiple lentigines; Muscle weakness; Myxoid subcutaneous tumors; Narrow vertebral interpedicular distance; Neonatal epiphyseal stippling; Nevus; Obesity; Onset; Open mouth; Optic atrophy; Osteopenia; Osteoporosis; Paradoxical increased cortisol secretion on dexamethasone suppression test; Peripheral neuropathy; Peripheral Schwannoma; Pheochromocytoma; Pigmented micronodular adrenocortical disease; Pituitary adenoma; Pituitary growth hormone cell adenoma; Primary hypercorticolism; Profuse pigmented skin lesions; Pseudohypoparathyroidism; Psychosis; Pulmonic valve myxoma; Red hair; Round face; Schwannoma; Scoliosis; Short metacarpal; Short metatarsal; Short nose; Short palm; Short phalanx of finger; Short stature; Short toe; Skeletal muscle atrophy; Slender build; Specific learning disability; Spinal canal stenosis; Strabismus; Striae distensae; Thin skin; Thyroid adenoma; Thyroid carcinoma; Thyroid follicular hyperplasia; Truncal obesity; Vestibular Schwannoma; Wide nasal bridgeHeterotaxy ; Obesity
PROC2q14.3100%gene with protein product612283Abnormality of the eye; Abnormality of the nervous system; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebral venous thrombosis; Deep venous thrombosis; Global developmental delay; Hypercoagulability; Pulmonary embolism; Purpura; Reduced protein C activity; Seizures; Superficial thrombophlebitis; Thin skin; Variable expressivity; Venous thrombosis; Vitreous hemorrhage; Warfarin-induced skin necrosis
PRRX11q24.2100%gene with protein product167420PMX1Abnormality of the cranial nerves; Abnormality of the eye; Absent nares; Agenesis of corpus callosum; Aglossia; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Autosomal recessive inheritance; Cleft palate; Conductive hearing impairment; Cyclopia; Downslanted palpebral fissures; Holoprosencephaly; Hypoplasia of penis; Hypoplasia of the epiglottis; Laryngeal hypoplasia; Low-set, posteriorly rotated ears; Mandibular aplasia; Microglossia; Micrognathia; Narrow internal auditory canal; Narrow mouth; Phenotypic variability; Polyhydramnios; Respiratory distress; Situs inversus totalis; Synotia; TracheomalaciaHeterotaxy
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
RETREG15p15.1100%gene with protein productformer name = FAM134B613114FAM134BAbnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Acral ulceration leading to autoamputation of digits; Anhidrosis; Areflexia; Autosomal recessive inheritance; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Dystrophic fingernails; Dystrophic toenail; Episodic hyperhidrosis; Feeding difficulties in infancy; Foot acroosteolysis; Gastroesophageal reflux; Generalized hypotonia; Hyperhidrosis; Hyperlordosis; Hyporeflexia; Infantile onset; Juvenile onset; Osteolytic defects of the phalanges of the hand; Osteomyelitis; Painless fractures due to injury; Paronychia; Peripheral axonal neuropathy; Peripheral neuropathy; Progressive; Reduced bone mineral density; Skeletal muscle atrophy; Slow progression; Spasticity; Tapered finger; Urinary incontinence; Wormian bones
SAR1B5q31.199.99%gene with protein product607690SARA2Abdominal distention; Abnormality of blood and blood-forming tissues; Abnormality of the eye; Abnormality of vitamin metabolism; Autosomal recessive inheritance; Decreased circulating low-density lipoprotein levels; Diarrhea; Elevated hepatic transaminases; Failure to thrive; Growth delay; Hypoalbuminemia; Hypocholesterolemia; Impaired vibratory sensation; Increased hepatocellular lipid droplets; Infantile onset; Intellectual disability; Malnutrition; Reduced tendon reflexes; Retinopathy; Steatorrhea; Vomiting
SCN9A2q24.399.99%gene with protein product603415Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Abnormality of the musculature; Absence seizures; Acral ulceration leading to autoamputation of digits; Anal pain; Anhidrosis; Anosmia; Areflexia; Ataxia; Atonic seizures; Autosomal dominant inheritance; Autosomal recessive inheritance; Blurred vision; Bradycardia; Constipation; Cutaneous photosensitivity; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Diarrhea; Dysautonomia; Dystrophic fingernails; Dystrophic toenail; EEG abnormality; Episodic hyperhidrosis; Erythema; Febrile seizures; Feeding difficulties in infancy; Focal clonic seizures; Focal seizures; Foot acroosteolysis; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Hyperhidrosis; Hyperlordosis; Hypohidrosis; Hyporeflexia; Hyposmia; Impaired pain sensation; Infantile onset; Jaw pain; Juvenile onset; Keratoconjunctivitis sicca; Lacrimation abnormality; Mandibular pain; Muscular hypotonia; Myalgia; Neonatal onset; Neurodevelopmental delay; Obtundation status; Ocular pain; Osteolytic defects of the phalanges of the hand; Pain insensitivity; Painless fractures due to injury; Palpitations; Paronychia; Peripheral neuropathy; Pruritus; Pschomotor retardation; Reduced bone mineral density; Seizures; Skeletal muscle atrophy; Slow progression; Tachycardia; Tapered finger; Tremor; Urinary incontinence; Variable expressivity; Wormian bones; Xerostomia
SLC36A25q33.1100%gene with protein product608331Abnormality of the eye; Autosomal dominant inheritance; Autosomal recessive inheritance; Calcium oxalate nephrolithiasis; Hydroxyprolinuria; Hyperglycinuria; Intellectual disability; Prolinuria
SLC6A195p15.3399.97%gene with protein product608893Abnormal urinary color; Abnormality of the eye; Anxiety; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Calcium oxalate nephrolithiasis; Cutaneous photosensitivity; EEG abnormality; Emotional lability; Episodic ataxia; Global developmental delay; Hallucinations; Hydroxyprolinuria; Hyperglycinuria; Hyperreflexia; Hypertonia; Intellectual disability; Malabsorption; Migraine; Muscular hypotonia; Neutral hyperaminoaciduria; Nystagmus; Photophobia; Prolinuria; Psychosis; Seizures; Skin rash; Strabismus
SLC6A203p21.31100%gene with protein product605616Abnormality of the eye; Autosomal dominant inheritance; Autosomal recessive inheritance; Calcium oxalate nephrolithiasis; Hydroxyprolinuria; Hyperglycinuria; Intellectual disability; Prolinuria
TRPV412q24.11100%gene with protein product605427Abducens palsy; Abnormal cortical bone morphology; Abnormal enchondral ossification; Abnormal form of the vertebral bodies; Abnormal metaphyseal vascular invasion; Abnormality of the eye; Abnormality of the face; Abnormality of the foot; Abnormality of the intervertebral disk; Abnormality of the metaphysis; Abnormality of the rib cage; Abnormality of the ribs; Absent primary metaphyseal spongiosa; Amyoplasia; Anisospondyly; Areflexia; Arthrogryposis multiplex congenita; Arthropathy; Autosomal dominant inheritance; Barrel-shaped chest; Brachydactyly; Brachytelomesophalangy; Broad-based gait; Cachexia; Carpal bone hypoplasia; Caudal appendage; Childhood-onset short-trunk short stature; Clinodactyly; Coxa vara; Decreased distal sensory nerve action potential; Decreased fetal movement; Delayed skeletal maturation; Depressed nasal bridge; Diaphragmatic weakness; Disproportionate short-trunk short stature; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Dumbbell-shaped metaphyses; Elbow flexion contracture; Elevated serum creatine phosphokinase; Enlarged joints; Epiphyseal dysplasia; Facial palsy; Flared femoral metaphysis; Flared humeral metaphysis; Flared metaphysis; Flat acetabular roof; Flexion contracture; Foot dorsiflexor weakness; Gait disturbance; Genu valgum; Gowers sign; Halberd-shaped pelvis; Hammertoe; Hand muscle atrophy; High forehead; Hip contracture; Hip dysplasia; Hyperlordosis; Hypermetropia; Hyperplasia of the femoral trochanters; Hypoplasia of the odontoid process; Hypoplastic cervical vertebrae; Hyporeflexia; Incomplete penetrance; Increased vertebral height; Intercostal muscle weakness; Irregular acetabular roof; Irregular, rachitic-like metaphyses; Joint stiffness; Juvenile onset; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long coccyx; Long thorax; Metatarsus adductus; Micromelia; Motor delay; Motor polyneuropathy; Muscle fiber splitting; Muscular hypotonia; Narrow chest; Nonprogressive; Nonprogressive muscular atrophy; Obstructive sleep apnea; Oculomotor nerve palsy; Onset; Osteoarthritis of the small joints of the hand; Pectus carinatum; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Platyspondyly; Progressive distal muscle weakness; Progressive distal muscular atrophy; Proximal femoral metaphyseal irregularity; Proximal lower limb amyotrophy; Radial deviation of finger; Relatively short spine; Respiratory failure; Rough bone trabeculation; Scapular muscle atrophy; Scapular winging; Scapuloperoneal amyotrophy; Scoliosis; Sensorineural hearing impairment; Sensory neuropathy; Severe carpal ossification delay; Severe short stature; Short distal phalanx of finger; Short distal phalanx of toe; Short femoral neck; Short finger; Short middle phalanx of finger; Short middle phalanx of toe; Short neck; Short stature; Short thorax; Shortening of all distal phalanges of the toes; Shortening of all middle phalanges of the toes; Shoulder girdle muscle atrophy; Skeletal dysplasia; Small hand; Spinal cord compression; Spinal muscular atrophy; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stridor; Talipes equinovarus; Torticollis; Urinary incontinence; Urinary urgency; Variable expressivity; Vocal cord paresis; Waddling gait
TSPYL16q22.1100%gene with protein product604714TSPYLAbnormality of metabolism/homeostasis; Abnormality of the eye; Abnormality of the voice; Ambiguous genitalia; Ambiguous genitalia, male; Apnea; Autosomal recessive inheritance; Bradycardia; Bronchospasm; Cardiac arrest; Cardiorespiratory arrest; Cryptorchidism; Death in infancy; Dysautonomia; Dysplastic testes; Feeding difficulties in infancy; Gastroesophageal reflux; Growth delay; Hypoplasia of penis; Hyporeflexia; Hypothermia; Laryngospasm; Myoclonus; Ophthalmoplegia; Partial development of the penile shaft; Scrotal hypoplasia; Sleep apnea; Staccato cry; Stridor; Testicular dysgenesis; Tongue fasciculationsDisorders of Sex Development
WNK112p13.33100%gene with protein product605232PRKWNK1, HSN2Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Acral ulceration leading to autoamputation of digits; Anhidrosis; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Dystrophic fingernails; Dystrophic toenail; Episodic hyperhidrosis; Feeding difficulties in infancy; Foot acroosteolysis; Gastroesophageal reflux; Generalized hypotonia; Hyperchloremia; Hyperchloremic metabolic acidosis; Hyperhidrosis; Hyperkalemia; Hyperlordosis; Hypertension; Hyporeflexia; Infantile onset; Metabolic acidosis; Osteolytic defects of the phalanges of the hand; Painless fractures due to injury; Paronychia; Peripheral neuropathy; Pseudohypoaldosteronism; Reduced bone mineral density; Skeletal muscle atrophy; Slow progression; Tapered finger; Wormian bones
WNT10A2q35100%gene with protein product606268Abnormal toenail morphology; Abnormality of dental morphology; Abnormality of the eye; Abnormality of the fingernails; Alopecia; Anonychia; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal cell carcinoma; Bird-like facies; Dry hair; Dry skin; Dystrophic fingernails; Ectodermal dysplasia; Epidermal acanthosis; Erythema; Facial telangiectasia; Fine hair; Hypodontia; Hypohidrosis; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypotrichosis; Microdontia; Micrognathia; Nail dysplasia; Narrow nail; Oligodontia; Onycholysis; Palmoplantar hyperhidrosis; Palmoplantar keratoderma; Peg-shaped maxillary lateral incisors; Premature loss of primary teeth; Reduced number of teeth; Ridged nail; Small nail; Smooth tongue; Sparse hair; Squamous cell carcinoma; Thin nailEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis


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