XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

ENTER GENES BELOW AND CLICK "ADD GENES TO SLICE"

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SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

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

SELECTED GENES FOR YOUR SLICE

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Phenotypes
Thickened cortex of long bones

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ANO511p14.399.21%gene with protein product608662TMEM16E, LGMD2LAdult onset; Autosomal dominant inheritance; Autosomal recessive inheritance; Bowing of the long bones; Broad jaw; Calf muscle hypertrophy; Diaphyseal cortical sclerosis; Difficulty climbing stairs; Difficulty running; Distal muscle weakness; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Facial palsy; Increased susceptibility to fractures; Mandibular osteomyelitis; Muscular dystrophy; Myalgia; Osteopenia; Pelvic girdle muscle weakness; Progressive; Proximal muscle weakness; Quadriceps muscle atrophy; Shoulder girdle muscle weakness; Thickened cortex of long bones; Variable expressivityRhabdomyolysis
FAM111A11q12.1100%gene with protein product615292Abnormal circulating follicle-stimulating hormone level; Abnormality of the medullary cavity of the long bones; Anemia; Aniridia; Ankyloglossia; Ascites; Autosomal dominant inheritance; Basal ganglia calcification; Bilateral microphthalmos; Brachydactyly; Calvarial osteosclerosis; Carious teeth; Congenital cataract; Congenital hypoparathyroidism; Cortical thickening of long bone diaphyses; Decreased skull ossification; Decreased testicular size; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed skeletal maturation; Failure to thrive; Flared metaphysis; Global developmental delay; Hydrocephalus; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypocalcemia; Hypocalcemic seizures; Hypocalcemic tetany; Hypoparathyroidism; Hypoplastic spleen; Increased bone mineral density; Intrauterine growth retardation; Macrocephaly; Micropenis; Microphthalmia; Papilledema; Postnatal growth retardation; Postnatal macrocephaly; Prominent forehead; Retinal calcification; Seizures; Severe short stature; Short stature; Slender long bone; Small for gestational age; Stenosis of the medullary cavity of the long bones; Thickened cortex of long bones; Thin long bone diaphyses; Transient hypophosphatemia
LIFR5p13.199.51%gene with protein product151443Abnormal metaphyseal trabeculation; Abnormality of dental enamel; Abnormality of vision; Absent patellar reflexes; Adducted thumb; Apnea; Asthma; Autosomal recessive inheritance; Blotching pigmentation of the skin; Broad ischia; Camptodactyly of finger; Contracture of the proximal interphalangeal joint of the 5th finger; Dysautonomia; Dysphagia; Elbow flexion contracture; Enlarged joints; Episodic fever; Feeding difficulties; Feeding difficulties in infancy; Femoral bowing; Flared metaphysis; Flexion contracture of toe; Frontal bossing; Generalized hypotonia; Genu valgum; Hoarse voice; Hyperhidrosis; Hypohidrosis; Hypoplastic iliac body; Impaired pain sensation; Intrauterine growth retardation; Knee flexion contracture; Lacrimation abnormality; Low-set ears; Malar flattening; Metaphyseal rarefaction; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Myotonia; Nasal speech; Oligohydramnios; Opacification of the corneal stroma; Osteopenia; Osteoporosis; Paresthesia; Pathologic fracture; Pulmonary arterial hypertension; Pulmonary arterial medial hypertrophy; Pulmonary hypoplasia; Pursed lips; Recurrent fractures; Respiratory distress; Respiratory insufficiency; Scoliosis; Short neck; Short nose; Short palpebral fissure; Short phalanx of finger; Short stature; Short tibia; Single transverse palmar crease; Skeletal dysplasia; Smooth tongue; Square face; Talipes; Talipes equinovarus; Talipes valgus; Thickened cortex of long bones; Thin ribs; Thin skin; Tibial bowing; Trismus; Ulnar deviation of finger; Wide nasal base
LIFR5p13.199.51%gene with protein product151443Abnormal metaphyseal trabeculation; Abnormality of dental enamel; Abnormality of vision; Absent patellar reflexes; Adducted thumb; Apnea; Asthma; Autosomal recessive inheritance; Blotching pigmentation of the skin; Broad ischia; Camptodactyly of finger; Contracture of the proximal interphalangeal joint of the 5th finger; Dysautonomia; Dysphagia; Elbow flexion contracture; Enlarged joints; Episodic fever; Feeding difficulties; Feeding difficulties in infancy; Femoral bowing; Flared metaphysis; Flexion contracture of toe; Frontal bossing; Generalized hypotonia; Genu valgum; Hoarse voice; Hyperhidrosis; Hypohidrosis; Hypoplastic iliac body; Impaired pain sensation; Intrauterine growth retardation; Knee flexion contracture; Lacrimation abnormality; Low-set ears; Malar flattening; Metaphyseal rarefaction; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Myotonia; Nasal speech; Oligohydramnios; Opacification of the corneal stroma; Osteopenia; Osteoporosis; Paresthesia; Pathologic fracture; Pulmonary arterial hypertension; Pulmonary arterial medial hypertrophy; Pulmonary hypoplasia; Pursed lips; Recurrent fractures; Respiratory distress; Respiratory insufficiency; Scoliosis; Short neck; Short nose; Short palpebral fissure; Short phalanx of finger; Short stature; Short tibia; Single transverse palmar crease; Skeletal dysplasia; Smooth tongue; Square face; Talipes; Talipes equinovarus; Talipes valgus; Thickened cortex of long bones; Thin ribs; Thin skin; Tibial bowing; Trismus; Ulnar deviation of finger; Wide nasal base
LRP511q13.2100%gene with protein product603506LRP7, OPPG, EVR1Abdominal distention; Abnormal cortical bone morphology; Abnormal form of the vertebral bodies; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the ribs; Abnormality of the vertebral column; Absent anterior chamber of the eye; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Blindness; Brachycephaly; Broad forehead; Broad jaw; Cataract; Clavicular sclerosis; Conductive hearing impairment; Cranial hyperostosis; Craniofacial hyperostosis; Craniosynostosis; Dental malocclusion; Diaphyseal thickening; Exudative vitreoretinopathy; Facial palsy; Falciform retinal fold; Flat forehead; Generalized hypotonia; Generalized osteosclerosis; Glioma; Growth abnormality; Headache; Hepatomegaly; Heterogeneous; High forehead; Horizontal pendular nystagmus; Hypertelorism; Increased bone mineral density; Increased susceptibility to fractures; Infantile onset; Intellectual disability, mild; Iris atrophy; Joint hypermobility; Kyphoscoliosis; Macrocephaly; Mandibular prognathia; Metacarpal diaphyseal endosteal sclerosis; Metaphyseal widening; Metatarsal diaphyseal endosteal sclerosis; Microcephaly; Microphthalmia; Multiple renal cysts; Osteopenia; Osteopetrosis; Osteoporosis; Pathologic fracture; Peripheral retinal avascularization; Phthisis bulbi; Platyspondyly; Polycystic liver disease; Posterior vitreous detachment; Premature birth; Recurrent fractures; Reduced visual acuity; Retinal detachment; Retinal exudate; Retinal neovascularization; Sensorineural hearing impairment; Short stature; Slow progression; Small for gestational age; Subcapsular cataract; Thickened calvaria; Thickened cortex of long bones; Torus palatinus; Tractional retinal detachment; Ventricular septal defect; Vertebral body sclerosis; Vitreoretinopathy; Vitreous hemorrhage
LRP511q13.2100%gene with protein product603506LRP7, OPPG, EVR1Abdominal distention; Abnormal cortical bone morphology; Abnormal form of the vertebral bodies; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the ribs; Abnormality of the vertebral column; Absent anterior chamber of the eye; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Blindness; Brachycephaly; Broad forehead; Broad jaw; Cataract; Clavicular sclerosis; Conductive hearing impairment; Cranial hyperostosis; Craniofacial hyperostosis; Craniosynostosis; Dental malocclusion; Diaphyseal thickening; Exudative vitreoretinopathy; Facial palsy; Falciform retinal fold; Flat forehead; Generalized hypotonia; Generalized osteosclerosis; Glioma; Growth abnormality; Headache; Hepatomegaly; Heterogeneous; High forehead; Horizontal pendular nystagmus; Hypertelorism; Increased bone mineral density; Increased susceptibility to fractures; Infantile onset; Intellectual disability, mild; Iris atrophy; Joint hypermobility; Kyphoscoliosis; Macrocephaly; Mandibular prognathia; Metacarpal diaphyseal endosteal sclerosis; Metaphyseal widening; Metatarsal diaphyseal endosteal sclerosis; Microcephaly; Microphthalmia; Multiple renal cysts; Osteopenia; Osteopetrosis; Osteoporosis; Pathologic fracture; Peripheral retinal avascularization; Phthisis bulbi; Platyspondyly; Polycystic liver disease; Posterior vitreous detachment; Premature birth; Recurrent fractures; Reduced visual acuity; Retinal detachment; Retinal exudate; Retinal neovascularization; Sensorineural hearing impairment; Short stature; Slow progression; Small for gestational age; Subcapsular cataract; Thickened calvaria; Thickened cortex of long bones; Torus palatinus; Tractional retinal detachment; Ventricular septal defect; Vertebral body sclerosis; Vitreoretinopathy; Vitreous hemorrhage
SETBP118q12.399.32%gene with protein product611060Abnormality of the nasopharynx; Absent speech; Anteverted nares; Aplasia/Hypoplasia of the pubic bone; Atrial septal defect; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bicornuate uterus; Brachycephaly; Broad ribs; Cerebral atrophy; Choanal stenosis; Coarse facial features; Dental crowding; Depressed nasal bridge; Downslanted palpebral fissures; Facial hemangioma; Failure to thrive; Hepatoblastoma; High forehead; High palate; Hydronephrosis; Hydroureter; Hyperconvex nail; Hypertelorism; Hypertrichosis; Hypoplasia of first ribs; Hypoplasia of the corpus callosum; Hypoplastic labia majora; Hypoplastic labia minora; Hypoplastic nipples; Hypospadias; Hypsarrhythmia; Increased density of long bones; Intellectual disability; Long clavicles; Long face; Low-set ears; Macroglossia; Malar flattening; Metopic suture patent to nasal root; Micropenis; Midface retrusion; Motor delay; Narrow palate; Opisthotonus; Pointed chin; Postaxial hand polydactyly; Postnatal growth retardation; Prominent forehead; Ptosis; Sacrococcygeal teratoma; Sclerosis of skull base; Scrotal hypoplasia; Seizures; Shallow orbits; Short 1st metacarpal; Short distal phalanx of finger; Short neck; Short nose; Short sternum; Single transverse palmar crease; Sloping forehead; Synophrys; Talipes equinovarus; Thickened cortex of long bones; Thin upper lip vermilion; Tibial bowing; Ureteral stenosis; Ventriculomegaly; Wide distal femoral metaphysis; Widely patent fontanelles and sutures; Wormian bonesDisorders of Sex Development
SOST17q21.31100%gene with protein product6057402-3 finger syndactyly; Abnormal cortical bone morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the nose; Abnormality of the ribs; Autosomal dominant inheritance; Autosomal recessive inheritance; Broad clavicles; Broad ribs; Choanal stenosis; Coarse facial features; Cognitive impairment; Concave nasal ridge; Conductive hearing impairment; Constriction of peripheral visual field; Cortically dense long tubular bones; Cranial hyperostosis; Cranial nerve paralysis; Craniofacial hyperostosis; Craniofacial osteosclerosis; Curved distal phalanges of the hand; Dental malocclusion; Depressed nasal bridge; Deviation of finger; Diaphyseal sclerosis; Diaphyseal thickening; Elevated alkaline phosphatase; Elevated circulating parathyroid hormone level; Esotropia; Facial diplegia; Facial palsy; Facial palsy secondary to cranial hyperostosis; Fingernail dysplasia; Frontal bossing; Generalized osteosclerosis; Headache; Hearing impairment; Hypertelorism; Increased bone mineral density; Increased intracranial pressure; Infantile onset; Intellectual disability; Macrocephaly; Malar flattening; Mandibular prognathia; Midface retrusion; Nail dysplasia; Nystagmus; Optic atrophy; Optic atrophy from cranial nerve compression; Overgrowth; Papilledema; Progressive; Progressive visual loss; Proptosis; Ptosis; Sclerotic scapulae; Sclerotic vertebral endplates; Sensorineural hearing impairment; Short stature; Stenosis of the external auditory canal; Sudden death; Tall stature; Thickened cortex of long bones; Thickened ribs; Visual loss; Wide nasal bridge


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