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"

If cutting and pasting from another document, please be sure to list EITHER one gene symbol per line OR enter a comma-separated list.


OR

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

What do you want to do?

Place an e-order of this Slice on a specific patient through the GeneDx Portal  
Obtain a Slice ID to order testing with a printed requisition form  
Only email the gene list to myself and/or others at this time  


 
Phenotypes
Thick corpus callosum

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
PIK3R219p13.1196.64%gene with protein product603157Abnormal localization of kidney; Abnormal nasal morphology; Abnormally large globe; Atrial septal defect; Autosomal dominant inheritance; Blindness; Depressed nasal bridge; Frontal bossing; Global developmental delay; High forehead; Hydrocephalus; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability, profound; Knee flexion contracture; Kyphosis; Long palpebral fissure; Macrocephaly; Megalencephaly; Mitral regurgitation; Muscular hypotonia of the trunk; Narrow mouth; Pachygyria; Polymicrogyria; Postaxial hand polydactyly; Postaxial polydactyly; Ptosis; Seizures; Skeletal muscle atrophy; Telecanthus; Thick corpus callosum; Thoracic scoliosis; Vascular ring; Ventricular septal defect
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
SZT21p34.2100%gene with protein product615463C1orf84, KIAA0467Absence seizures; Autosomal recessive inheritance; Downslanted palpebral fissures; EEG abnormality; Epileptic encephalopathy; Focal seizures; Generalized hypotonia; Global developmental delay; High forehead; Highly arched eyebrow; Hyporeflexia; Ptosis; Thick corpus callosum
VPS13B8q22.2100%gene with protein product607817CHS1, COH1Abnormality of skin pigmentation; Aplasia/Hypoplasia of the tongue; Arachnodactyly; Autosomal recessive inheritance; Cat cry; Cerebellar hypoplasia; Childhood-onset truncal obesity; Chorioretinal dystrophy; Clinodactyly of the 5th finger; Convex nasal ridge; Cubitus valgus; Decreased fetal movement; Delayed puberty; Downslanted palpebral fissures; Facial hypotonia; Failure to thrive in infancy; Feeding difficulties in infancy; Finger syndactyly; Generalized hypotonia; Genu valgum; Gingival overgrowth; Global developmental delay; Growth hormone deficiency; High, narrow palate; Hypoplasia of the maxilla; Hypoplasia of the zygomatic bone; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Laryngomalacia; Leukopenia; Long eyelashes; Low anterior hairline; Lumbar hyperlordosis; Macrodontia; Macrodontia of permanent maxillary central incisor; Microcephaly; Micrognathia; Mitral valve prolapse; Motor delay; Muscular hypotonia; Myopia; Narrow palm; Neonatal hypotonia; Neurological speech impairment; Neutropenia; Obesity; Open mouth; Optic atrophy; Pes planus; Prominent nasal bridge; Reduced number of teeth; Reduced visual acuity; Sandal gap; Seizures; Short metacarpal; Short metatarsal; Short philtrum; Short stature; Single transverse palmar crease; Slender toe; Small for gestational age; Tapered finger; Thick corpus callosum; Thick eyebrow; Thick hair; Thoracic scoliosis; Visual impairment; Weak cryAplastic Anemia ; Bone Marrow Failure Syndromes ; Obesity


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