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 thorax

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
COL1A117q21.33100%gene with protein product120150Abnormality of pelvic girdle bone morphology; Abnormality of the nervous system; Abnormality of the thorax; Absent ossification of calvaria; Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Basilar impression; Beaded ribs; Behavioral abnormality; Biconcave flattened vertebrae; Biconcave vertebral bodies; Blue sclerae; Bowel diverticulosis; Bowing of limbs due to multiple fractures; Breech presentation; Broad long bones; Bruising susceptibility; Calvarial hyperostosis; Cellulitis; Cigarette-paper scars; Congenital bilateral hip dislocation; Congenital diaphragmatic hernia; Congestive heart failure; Convex nasal ridge; Cortical irregularity; Crumpled long bones; Decreased calvarial ossification; Delayed gross motor development; Dentinogenesis imperfecta; Disproportionate short-limb short stature; Ectopia lentis; Epicanthus; Erythema; Femoral bowing; Femoral bowing present at birth, straightening with time; Femoral hernia; Fever; Fibrosarcoma; Fragile skin; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Growth abnormality; Hallux valgus; Hearing impairment; Hyperesthesia; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Increased susceptibility to fractures; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Kyphosis; Large fontanelles; Lop ear; Malar flattening; Micrognathia; Midface retrusion; Mild short stature; Mitral valve prolapse; Molluscoid pseudotumors; Multiple prenatal fractures; Muscle weakness; Myopia; Narrow maxilla; Neonatal short-limb short stature; Neoplasm of the skin; Nonimmune hydrops fetalis; Osteoarthritis; Osteopenia; Otosclerosis; Pectus carinatum; Pectus excavatum; Periosteal thickening of long tubular bones; Pes planus; Platybasia; Platyspondyly; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Premature osteoarthritis; Protrusio acetabuli; Pulmonary arterial hypertension; Pulmonary insufficiency; Recurrent fractures; Reduced bone mineral density; Respiratory insufficiency; Scoliosis; Severe generalized osteoporosis; Short stature; Skin ulcer; Slender long bone; Small for gestational age; Soft skin; Subcutaneous nodule; Subcutaneous spheroids; Thickened skin; Thin skin; Tibial bowing; Triangular face; Umbilical hernia; Varicose veins; Wide anterior fontanel; Wormian bones
COL1A27q21.399.62%gene with protein product120160OI4Abnormality of pelvic girdle bone morphology; Abnormality of the nervous system; Abnormality of the thorax; Absent ossification of calvaria; Aortic regurgitation; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Basilar impression; Beaded ribs; Biconcave flattened vertebrae; Biconcave vertebral bodies; Blue sclerae; Bowing of limbs due to multiple fractures; Breech presentation; Broad long bones; Bruising susceptibility; Calcaneovalgus deformity; Congenital bilateral hip dislocation; Congestive heart failure; Convex nasal ridge; Crumpled long bones; Decreased calvarial ossification; Delayed gross motor development; Dentinogenesis imperfecta; Disproportionate short-limb short stature; Excessive wrinkled skin; Femoral bowing present at birth, straightening with time; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Hearing impairment; Hernia; Hyperextensible skin; Increased susceptibility to fractures; Inguinal hernia; Joint hyperflexibility; Joint laxity; Kyphosis; Large fontanelles; Malar flattening; Micrognathia; Midface retrusion; Mild short stature; Mitral regurgitation; Mitral valve prolapse; Multiple prenatal fractures; Muscle weakness; Neonatal short-limb short stature; Nonimmune hydrops fetalis; Osteopenia; Otosclerosis; Pectus excavatum; Pes planus; Platybasia; Platyspondyly; Poor wound healing; Premature birth; Premature osteoarthritis; Protrusio acetabuli; Pulmonary arterial hypertension; Pulmonary insufficiency; Recurrent fractures; Reduced bone mineral density; Respiratory insufficiency; Scoliosis; Severe generalized osteoporosis; Short stature; Slender long bone; Small for gestational age; Soft skin; Subcutaneous hemorrhage; Thin skin; Tibial bowing; Triangular face; Wide anterior fontanel; Wormian bones
CTSK1q21.3100%gene with protein product601105CTSO2, CTSO, PYCDAbnormal pelvis bone ossification; Abnormal vertebral morphology; Abnormality of dental morphology; Abnormality of epiphysis morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the fingernails; Abnormality of the thorax; Absent frontal sinuses; Autosomal recessive inheritance; Blue sclerae; Bone pain; Brachycephaly; Brachydactyly; Carious teeth; Delayed eruption of permanent teeth; Delayed eruption of primary teeth; Delayed eruption of teeth; Frontal bossing; High forehead; Hypodontia; Increased bone mineral density; Malar flattening; Micrognathia; Midface retrusion; Narrow palate; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Persistence of primary teeth; Persistent open anterior fontanelle; Prominent nose; Prominent occiput; Proptosis; Recurrent fractures; Ridged nail; Scoliosis; Short distal phalanx of finger; Short stature; Short toe; Skeletal dysplasia; Spondylolisthesis; Spondylolysis; Wormian bones
CYP21A26p21.33gene with protein productXomeDxSlice is not appropriate.613815CYP21, CYP21BAbnormality of the thorax; Adrenal hyperplasia; Adrenogenital syndrome; Autosomal recessive inheritance; Fever; Growth abnormality; Gynecomastia; Hypertension; Hypoglycemia; Hypospadias; Renal salt wasting
EBPXp11.23100%gene with protein product300205CDPX22-3 toe syndactyly; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the pinna; Abnormality of the thorax; Alopecia; Aortic valve stenosis; Bilateral talipes equinovarus; Cataract; Concave nasal ridge; Congenital ichthyosiform erythroderma; Congenital onset; Cryptorchidism; Dandy-Walker malformation; Downslanted palpebral fissures; Edema; Elevated 8(9)-cholestenol; Elevated 8-dehydrocholesterol; Epicanthus; Epiphyseal stippling; Erythema; Erythroderma; Failure to thrive; Flat face; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Hearing impairment; Hemiatrophy; Hemivertebrae; High palate; Hydrocephalus; Hydronephrosis; Hyperactivity; Ichthyosis; Intellectual disability; Intellectual disability, moderate; Joint dislocation; Kyphosis; Long fingers; Low-set ears; Malar flattening; Microphthalmia; Microretrognathia; Midface retrusion; Nystagmus; Optic atrophy; Overlapping fingers; Overlapping toe; Patellar dislocation; Phenotypic variability; Polydactyly; Polyhydramnios; Postnatal growth retardation; Prominent nasal bridge; Ptosis; Punctate vertebral calcifications; Scarring alopecia of scalp; Scoliosis; Seizures; Short neck; Short stature; Sparse and thin eyebrow; Sparse eyelashes; Stippled calcification in carpal bones; Tarsal stippling; Tracheal calcification; Tracheal stenosis; Variable expressivity; X-linked dominant inheritance; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC219q13.32100%gene with protein product126340XPDAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Abnormality of the thorax; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Asthma; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Brittle hair; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Chronic diarrhea; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed speech and language development; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Ectropion; EEG abnormality; Entropion; Erythema; Erythroderma; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Fine hair; Flexion contracture; Fragile nails; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Hyporeflexia; IgG deficiency; Intellectual disability; Intellectual disability, progressive; Intestinal obstruction; Intrauterine growth retardation; Joint stiffness; Keratitis; Kyphoscoliosis; Lack of subcutaneous fatty tissue; Large beaked nose; Malabsorption; Melanoma; Mental deterioration; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Nail dystrophy; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Recurrent infections; Reduced tendon reflexes; Retinopathy; Retrognathia; Rocker bottom foot; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Small for gestational age; Small nail; Sparse hair; Spasticity; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin; Trichorrhexis nodosa; Urticaria; Visual impairment; Wide nasal bridgeEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
GJA16q22.31100%gene with protein product121014ODDD, GJAL2-4 toe cutaneous syndactyly; 3-4 toe syndactyly; 4-5 finger syndactyly; Abnormal blistering of the skin; Abnormal cortical bone morphology; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the cerebral white matter; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the nasopharynx; Abnormality of the thorax; Absent middle phalanx of 5th finger; Alopecia; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the middle phalanges of the hand; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Bony paranasal bossing; Brachycephaly; Broad alveolar ridges; Broad columella; Broad long bones; Camptodactyly of finger; Carious teeth; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Club-shaped distal femur; Coarse facial features; Conductive hearing impairment; Congenital alopecia totalis; Congestive heart failure; Cranial hyperostosis; Craniofacial hyperostosis; Cubitus valgus; Curly hair; Cutaneous photosensitivity; Cyanosis; Delayed eruption of permanent teeth; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diabetes mellitus; Downslanted palpebral fissures; Dry hair; Dry skin; Dysarthria; Dystrophic fingernails; Epicanthus; Epidermal acanthosis; Erythema; External ear malformation; Facial hyperostosis; Facial palsy; Failure to thrive; Fifth finger distal phalanx clinodactyly; Fine hair; Finger syndactyly; Fingernail dysplasia; First degree atrioventricular block; Flared metaphysis; Fragile nails; Frontal bossing; Gait disturbance; Generalized hyperkeratosis; Glaucoma; High forehead; High hypermetropia; Hip dislocation; Hyperactive deep tendon reflexes; Hypergranulosis; Hypermelanotic macule; Hyperreflexia; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic aortic arch; Hypoplastic left heart; Hypotelorism; Hypotrichosis; Infantile onset; Inlet ventricular septal defect; Intellectual disability; Joint contracture of the 5th finger; Large earlobe; Long nose; Long philtrum; Low-set ears; Macrocephaly; Macrodontia of permanent maxillary central incisor; Mandibular prognathia; Median cleft lip; Metaphyseal dysplasia; Microcephaly; Microcornea; Microdontia; Micrognathia; Microphthalmia; Mild global developmental delay; Mixed hearing impairment; Muscle weakness; Myopia; Nail dysplasia; Narrow mouth; Narrow nasal bridge; Narrow nose; Nasal obstruction; Neurogenic bladder; Optic atrophy; Osteopetrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Paraparesis; Patchy palmoplantar keratoderma; Patchy sclerosis of finger phalanx; Persistent pupillary membrane; Phenotypic variability; Premature loss of primary teeth; Premature loss of teeth; Primum atrial septal defect; Pulmonary arterial hypertension; Reduced number of teeth; Seizures; Selective tooth agenesis; Short 5th finger; Short foot; Short middle phalanx of the 5th finger; Short nose; Short palpebral fissure; Short stature; Skeletal dysplasia; Skin rash; Slow-growing hair; Small hand; Sparse eyelashes; Sparse hair; Spastic paraparesis; Spasticity; Telecanthus; Tetraparesis; Thin anteverted nares; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Vertebral hyperostosis; Visual impairment; Weight loss; Wide nasal bridgeHeterotaxy ; Palmoplantar keratoderma plus congenital ichthyosis
GLE19q34.1199.99%gene with protein product603371GLE1L, LCCS1Abnormal anterior horn cell morphology; Abnormal cortical bone morphology; Abnormality of the amniotic fluid; Abnormality of the elbow; Abnormality of the hip bone; Abnormality of the ribs; Abnormality of the thorax; Amniotic constriction ring; Amyotrophic lateral sclerosis; Anxiety; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Depressivity; Dyspnea; Edema; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Fetal akinesia sequence; Generalized muscle weakness; Hypertelorism; Hypoplasia of the musculature; Limitation of joint mobility; Low-set ears; Low-set, posteriorly rotated ears; Micrognathia; Muscle cramps; Neonatal death; Neurodegeneration; Pain; Paralysis; Paucity of anterior horn motor neurons; Polyhydramnios; Pulmonary hypoplasia; Recurrent fractures; Respiratory failure; Short neck; Short stature; Skeletal muscle atrophy; Slender long bone; Spasticity; Webbed neck; Widening of cervical spinal canal; Xerostomia
GNPTAB12q23.299.95%gene with protein product607840GNPTAAbnormality of nervous system morphology; Abnormality of the rib cage; Abnormality of the thorax; Anteverted nares; Aortic regurgitation; Atlantoaxial dislocation; Autosomal recessive inheritance; Beaking of vertebral bodies T12-L3; Broad ribs; Bullet-shaped phalanges of the hand; Cardiomegaly; Carpal bone hypoplasia; Cavernous hemangioma; Coarse facial features; Congestive heart failure; Constrictive median neuropathy; Corneal erosion; Craniosynostosis; Death in childhood; Deficiency of N-acetylglucosamine-1-phosphotransferase; Depressed nasal bridge; Diastasis recti; Dysostosis multiplex; Epicanthus; Failure to thrive; Flared iliac wings; Flat acetabular roof; Generalized hirsutism; Heart murmur; Hepatomegaly; Hernia; High forehead; Hip dislocation; Hoarse voice; Hyperopic astigmatism; Hypertrophic cardiomyopathy; Hypoplasia of the odontoid process; Hypoplastic scapulae; Increased serum beta-hexosaminidase; Increased serum iduronate sulfatase activity; Inguinal hernia; Intellectual disability; Irregular carpal bones; J-shaped sella turcica; Lack of skin elasticity; Large sella turcica; Long philtrum; Lower thoracic interpediculate narrowness; Macroglossia; Mandibular prognathia; Megalocornea; Metaphyseal widening; Mucopolysacchariduria; Myelopathy; Narrow forehead; Neonatal hypotonia; Opacification of the corneal stroma; Osteopenia; Ovoid vertebral bodies; Palpebral edema; Pathologic fracture; Progressive alveolar ridge hypertropy; Protuberant abdomen; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Retinal degeneration; Scoliosis; Severe global developmental delay; Severe postnatal growth retardation; Shallow acetabular fossae; Short long bone; Short ribs; Short stature; Soft tissue swelling of interphalangeal joints; Sparse and thin eyebrow; Specific learning disability; Splenomegaly; Split hand; Talipes equinovarus; Thickened calvaria; Thickened skin; Thin skin; Thoracolumbar kyphoscoliosis; Umbilical hernia; Varus deformity of humeral neck; Wide intermamillary distance
KCTD118q11.2100%gene with protein product613420C18orf52-3 toe syndactyly; 3-4 finger cutaneous syndactyly; Abnormality of the antihelix; Abnormality of the endocrine system; Abnormality of the fingernails; Abnormality of the scalp; Abnormality of the skin; Abnormality of the thorax; Agenesis of permanent teeth; Aplasia/Hypoplasia of the nipples; Autosomal dominant inheritance; Breast aplasia; Cataract; Cupped ear; Delayed eruption of teeth; Depressed nasal bridge; Hypertension; Low-set ears; Microtia; Nail dysplasia; Palpebral edema; Protruding ear; Recurrent urinary tract infections; Small earlobe; Sparse hair; Telecanthus; Type I diabetes mellitus; Underdeveloped antitragus; Underdeveloped tragusHeterotaxy
KLHL403p22.1100%gene with protein product615340KBTBD5Abnormality of the thorax; Dysphagia; Facial palsy; Fetal akinesia sequence; Flexion contracture; Hypokinesia; Myofibrillar myopathy; Nemaline bodies; Respiratory failureRhabdomyolysis
MAP2K219p13.3100%gene with protein product601263PRKMK2Abdominal wall muscle weakness; Abnormal aortic valve morphology; Abnormal heart valve morphology; Abnormal ventricular septum morphology; Abnormality of lateral ventricle; Abnormality of the helix; Abnormality of the lymphatic system; Abnormality of the sternum; Abnormality of the thorax; Abnormality of the ulna; Abnormality of vision; Absent eyebrow; Anteverted nares; Aplasia/Hypoplasia of the eyebrow; Atrial septal defect; Biparietal narrowing; Brittle hair; Cavernous hemangioma; Cerebellar hypoplasia; Coarse facial features; Congenital cataract; Cryptorchidism; Deep palmar crease; Depressed nasal bridge; Downslanted palpebral fissures; Dry skin; Dysphagia; Dystrophic fingernails; EEG abnormality; Epicanthus; Excessive wrinkled skin; Failure to thrive in infancy; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Generalized hyperpigmentation; Global developmental delay; Heat intolerance; High forehead; High palate; Hyperextensible skin; Hyperhidrosis; Hypertelorism; Hypertrophic cardiomyopathy; Hypoplasia of the corpus callosum; Hypoplasia of the zygomatic bone; Ichthyosis; Intellectual disability; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Multiple cafe-au-lait spots; Multiple lentigines; Muscular hypotonia; Myopia; Narrow forehead; Nystagmus; Optic nerve hypoplasia; Palmoplantar keratoderma; Pectus excavatum; Premature birth; Prolonged bleeding time; Ptosis; Pulmonic stenosis; Scoliosis; Short neck; Short nose; Short stature; Slow-growing hair; Sparse hair; Sparse or absent eyelashes; Specific learning disability; Strabismus; Telecanthus; Thickened helices; Underdeveloped supraorbital ridges; Webbed neck
MMP216q12.2100%gene with protein product120360CLG4, CLG4AAbnormality of the ear; Abnormality of the thorax; Ankle contracture; Ankylosis of feet small joints; Antinuclear antibody positivity; Arthralgia; Autosomal recessive inheritance; Brachycephaly; Broad metatarsal; Bulbous nose; C1-C2 subluxation; Camptodactyly of toe; Carpal osteolysis; Coarse facial features; Delayed closure of the anterior fontanelle; Delayed eruption of teeth; Distal tapering of metatarsals; Frontal bossing; Gait disturbance; Gingival overgrowth; Hip contracture; Hirsutism; Hypermelanotic macule; Hypertelorism; Hypoplasia of the maxilla; Infantile onset; Interphalangeal joint contracture of finger; Interphalangeal joint erosions; Juvenile onset; Kyphoscoliosis; Metacarpal osteolysis; Metaphyseal widening; Metatarsal osteolysis; Micrognathia; Narrow nasal bridge; Osteolysis involving tarsal bones; Osteopenia; Osteoporosis; Peripheral opacification of the cornea; Pes cavus; Pes planus; Proptosis; Protrusio acetabuli; Sclerotic cranial sutures; Short stature; Split hand; Subcutaneous nodule; Thickened skin; Thin metacarpal cortices; Thin metatarsal cortices; Vertebral compression fractures; Widened metacarpal shaft; Wrist flexion contractureHeterotaxy
NF117q11.2100%gene with protein product613113Abdominal wall muscle weakness; Abnormality of the cardiovascular system; Abnormality of the helix; Abnormality of the lymphatic system; Abnormality of the thorax; Astrocytoma; Autosomal dominant inheritance; Axillary freckling; Cafe-au-lait spot; Cryptorchidism; Cubitus valgus; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Dysphagia; Epicanthus; Freckling; Global developmental delay; Hydrocephalus; Hypertelorism; Hypertension; Hypertrophic cardiomyopathy; Hypoplasia of dental enamel; Inguinal freckling; Intellectual disability; Intellectual disability, mild; Juvenile myelomonocytic leukemia; Lisch nodules; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lower limb muscle weakness; Macrocephaly; Malar flattening; Microcephaly; Midface retrusion; Multiple cafe-au-lait spots; Muscle weakness; Neurofibromas; Neurofibrosarcoma; Optic nerve glioma; Overgrowth; Paraparesis; Parathyroid adenoma; Pectus excavatum of inferior sternum; Posteriorly rotated ears; Prolonged bleeding time; Prominent nasolabial fold; Ptosis; Pulmonic stenosis; Relative macrocephaly; Rhabdomyosarcoma; Scoliosis; Secundum atrial septal defect; Short neck; Short stature; Somatic mutation; Specific learning disability; Spina bifida; Spinal cord tumor; Superior pectus carinatum; Symmetric spinal nerve root neurofibromas; Webbed neckCongenital Kidney and Urinary Tract (CKUT) Anomalies; Palmoplantar keratoderma plus congenital ichthyosis
NME117q21.33100%gene with protein product156490Abdominal pain; Abnormality of the thorax; Anemia; Ataxia; Autosomal dominant inheritance; Bone pain; Diarrhea; Elevated urinary dopamine; Elevated urinary homovanillic acid; Elevated urinary vanillylmandelic acid; Failure to thrive; Fever; Ganglioneuroblastoma; Ganglioneuroma; Heterogeneous; Horner syndrome; Hypertension; Incomplete penetrance; Myoclonus; Neuroblastoma; Opsoclonus; Skin nodule; Spinal cord compression; Sporadic; Weight loss
NOTCH319p13.1299.94%gene with protein product600276CADASILAbnormal electroretinogram; Abnormal form of the vertebral bodies; Abnormality of the hair; Abnormality of the metaphysis; Abnormality of the middle ear ossicles; Abnormality of the musculature; Abnormality of the rib cage; Abnormality of the skin; Abnormality of the skull; Abnormality of the thorax; Abnormality of visual evoked potentials; Adult onset; Amaurosis fugax; Aphasia; Arachnoid cyst; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Autosomal dominant inheritance; Biconcave vertebral bodies; Bone cyst; Cerebral cortical atrophy; Cerebral ischemia; Chondrocalcinosis; Coarse hair; Coma; Conductive hearing impairment; Confusion; Cranial nerve paralysis; Craniofacial hyperostosis; Cryptorchidism; Dementia; Dental crowding; Depressivity; Developmental regression; Dolichocephaly; Downslanted palpebral fissures; Dural ectasia; EEG abnormality; Elevated serum creatine phosphokinase; Fever; Gait disturbance; Generalized hypotonia; Gingival fibromatosis; Hemiplegia; High palate; High, narrow palate; Hypertelorism; Impaired pain sensation; Inguinal hernia; Joint hyperflexibility; Joint hypermobility; Kyphosis; Leukoencephalopathy; Long philtrum; Low posterior hairline; Low-set ears; Malar flattening; Memory impairment; Meningocele; Micrognathia; Migraine; Motor delay; Narrow face; Neoplasm of the lung; Neoplasm of the skin; Nonarteritic anterior ischemic optic neuropathy; Patent ductus arteriosus; Pectus excavatum; Platybasia; Posteriorly rotated ears; Prominent metopic ridge; Pseudobulbar paralysis; Ptosis; Recurrent subcortical infarcts; Retinal arteriolar tortuosity; Sclerosis of skull base; Scoliosis; Seizures; Sensory neuropathy; Short nasal bridge; Short neck; Short stature; Smooth philtrum; Spasticity; Stroke; Subcortical dementia; Subcutaneous nodule; Syringomyelia; Umbilical hernia; Urinary incontinence; Varicose veins; Vertebral fusion; Visual impairment; Wormian bones
PDGFRB5q3299.97%gene with protein product173410PDGFRAbnormality of connective tissue; Abnormality of neuronal migration; Abnormality of the hair; Abnormality of the metaphysis; Abnormality of the musculature; Abnormality of the skull; Abnormality of the thorax; Adult onset; Athetosis; Autosomal dominant inheritance; Basal ganglia calcification; Bone cyst; Brachydactyly; Bradykinesia; Calcification of the small brain vessels; Cerebral calcification; Chondrocalcinosis; Chorea; Corneal opacity; Delayed cranial suture closure; Delayed eruption of teeth; Delayed skeletal maturation; Dense calcifications in the cerebellar dentate nucleus; Depressivity; Downslanted palpebral fissures; Dysarthria; Dysdiadochokinesis; Dystonia; Eosinophilia; Fibroma; Fragile skin; Gait disturbance; Gingival fibromatosis; Growth abnormality; Hepatomegaly; Hyperextensible skin; Hyperkeratosis; Hypermetropia; Hyperreflexia; Hypoplasia of the maxilla; Increased thyroid-stimulating hormone level; Intrauterine growth retardation; Limb dysmetria; Lipoatrophy; Long foot; Malignant eosinophil proliferation; Mask-like facies; Memory impairment; Mental deterioration; Microcephaly; Micrognathia; Midface retrusion; Myeloproliferative disorder; Narrow nose; Neoplasm of the lung; Neoplasm of the skin; Osteolytic defects of the phalanges of the hand; Osteopenia; Overgrowth; Parkinsonism; Pointed chin; Postural instability; Progressive; Progressive neurologic deterioration; Prominent forehead; Prominent nasal bridge; Prominent supraorbital ridges; Proptosis; Psychosis; Ptosis; Rigidity; Seizures; Sensorineural hearing impairment; Slender long bone; Sparse hair; Subcutaneous hemorrhage; Subcutaneous nodule; Thin calvarium; Thin skin; Thin upper lip vermilion; Thin vermilion border; Thoracolumbar scoliosis; Thrombocytopenia; Tremor; Urinary incontinence; Ventriculomegaly; Wide nasal bridge
SFRP47p14.1100%gene with protein product606570Abnormality of the thorax; Absent paranasal sinuses; Arthralgia; Autosomal recessive inheritance; Carious teeth; Genu valgum; Hypoplastic frontal sinuses; Limited elbow extension; Mandibular prognathia; Metaphyseal dysplasia; Muscle weakness; Platyspondyly; Reduced bone mineral density; Scoliosis; Thickened calvaria
SIN3A15q24.299.99%gene with protein product607776Abnormality of cardiovascular system morphology; Abnormality of the outer ear; Abnormality of the thorax; Abnormality of the voice; Aggressive behavior; Anisocoria; Anteverted nares; Arachnodactyly; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Brachydactyly; Cafe-au-lait spot; Clinodactyly; Congenital diaphragmatic hernia; Conspicuously happy disposition; Cryptorchidism; Cupped ear; Deeply set eye; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Dysplastic corpus callosum; Epicanthus; Facial asymmetry; Feeding difficulties in infancy; Fine hair; Flared nostrils; Gastrointestinal atresia; Generalized hypotonia; Global developmental delay; Growth delay; Growth hormone deficiency; Hearing impairment; High anterior hairline; High forehead; High palate; High, narrow palate; Highly arched eyebrow; Hyperactivity; Hypermetropia; Hypertelorism; Hypogonadism; Hypoplasia of the corpus callosum; Hypospadias; Immunodeficiency; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intestinal atresia; Intrauterine growth retardation; Iris coloboma; Joint hyperflexibility; Joint laxity; Long face; Long philtrum; Macrotia; Medial flaring of the eyebrow; Microcephaly; Micropenis; Microphallus; Microphthalmia; Microretrognathia; Muscular hypotonia; Narrow face; Narrow mouth; Nystagmus; Obesity; Open mouth; Phenotypic variability; Polyhydramnios; Prominent nasal bridge; Proximal placement of thumb; Radial deviation of finger; Recurrent infections; Scoliosis; Short nose; Short palm; Short stature; Short thumb; Single transverse palmar crease; Sleep disturbance; Small for gestational age; Smooth philtrum; Sparse and thin eyebrow; Sporadic; Strabismus; Thick lower lip vermilion; Thick nasal alae; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge; Wide nose; Widely spaced teeth
SLC17A56q1399.99%gene with protein product604322SIASDAbnormality of metabolism/homeostasis; Abnormality of the foot; Abnormality of the thorax; Anteverted nares; Ascites; Ataxia; Athetosis; Autosomal recessive inheritance; Cardiomegaly; Cerebral atrophy; Coarse facial features; Congestive heart failure; Conjugated hyperbilirubinemia; Death in childhood; Delayed speech and language development; Dysarthria; Epicanthus; Exotropia; Failure to thrive; Fair hair; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Growth delay; Hepatomegaly; High palate; Hydrocephalus; Hydrops fetalis; Hypopigmentation of the skin; Inability to walk; Intellectual disability; J-shaped sella turcica; Metaphyseal irregularity; Nephrotic syndrome; Nystagmus; Osteopenia; Premature birth; Ptosis; Seizures; Spasticity; Splenomegaly; Thickened calvaria; Vacuolated lymphocytes
VDR12q13.11100%gene with protein product601769Abdominal wall muscle weakness; Abnormal adipose tissue morphology; Abnormal form of the vertebral bodies; Abnormality of the hip bone; Abnormality of the metaphysis; Abnormality of the skin; Abnormality of the thorax; Alopecia; Alopecia universalis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone cyst; Bone pain; Bowing of the legs; Bulging epiphyses; Bulging of the costochondral junction; Carious teeth; Deformed rib cage; Delayed epiphyseal ossification; Delayed eruption of teeth; Difficulty standing; Difficulty walking; Dolichocephaly; Elevated alkaline phosphatase; Elevated circulating parathyroid hormone level; Enlargement of the ankles; Enlargement of the wrists; Failure to thrive; Femoral bowing; Fibular bowing; Flat occiput; Frontal bossing; Gait disturbance; Generalized hypotonia; Genu varum; Growth delay; Hyperparathyroidism; Hypocalcemia; Hypocalcemic seizures; Hypophosphatemia; Hypoplasia of dental enamel; Increased serum 1,25-dihydroxyvitamin D3; Infantile onset; Irritability; Joint dislocation; Metaphyseal irregularity; Motor delay; Nephrolithiasis; Osteolysis; Osteomalacia; Osteoporosis; Premature loss of primary teeth; Protuberant abdomen; Recurrent fractures; Rickets; Rough bone trabeculation; Secondary hyperparathyroidism; Short stature; Sparse bone trabeculae; Subperiosteal bone resorption; Thin bony cortex; Tibial bowing; Widely patent fontanelles and sutures
WRN8p1299.96%gene with protein product604611RECQL2, RECQ3Abnormal hair whorl; Abnormality of retinal pigmentation; Abnormality of the hair; Abnormality of the thorax; Abnormality of the voice; Aplasia/Hypoplasia of the skin; Aplasia/Hypoplasia of the testes; Atherosclerosis; Autosomal recessive inheritance; Cataract; Chondrocalcinosis; Congestive heart failure; Convex nasal ridge; Decreased fertility; Diabetes mellitus; Hyperkeratosis; Hypogonadism; Increased bone mineral density; Insulin resistance; Lack of skin elasticity; Lipoatrophy; Meningioma; Myocardial infarction; Narrow face; Osteoporosis; Osteosarcoma; Pili torti; Premature arteriosclerosis; Premature graying of hair; Progeroid facial appearance; Pulmonary artery stenosis; Retinal degeneration; Rocker bottom foot; Short stature; Skeletal muscle atrophy; Skin ulcer; Slender build; Small hand; Sparse scalp hair; Subcutaneous calcification; Telangiectasia of the skin; Type II diabetes mellitus; White forelock


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