XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Cavum septum pellucidum

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
CPLX14p16.3100%gene with protein product605032Abnormal form of the vertebral bodies; Abnormal sternal ossification; Abnormality of the pinna; Absent septum pellucidum; Accessory spleen; Aggressive behavior; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Cavum septum pellucidum; Cleft palate; Cleft upper lip; Convex nasal ridge; Craniofacial asymmetry; Decreased fetal movement; Decreased muscle mass; Delayed skeletal maturation; Developmental regression; Downturned corners of mouth; Ectopia pupillae; EEG with irregular generalized spike and wave complexes; Epicanthus; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hemangioma; High forehead; Highly arched eyebrow; Hip dislocation; Hyperconvex fingernails; Hypertelorism; Hypodontia; Intellectual disability, mild; Intellectual disability, severe; Intrauterine growth retardation; Irritability; Kyphosis; Low posterior hairline; Malrotation of small bowel; Mental deterioration; Metatarsus adductus; Microcephaly; Micrognathia; Myoclonus; Nystagmus; Periventricular cysts; Preauricular pit; Preauricular skin tag; Precocious puberty; Prominent glabella; Proptosis; Pseudoepiphyses of the metacarpals; Ptosis; Radioulnar synostosis; Rib fusion; Rib segmentation abnormalities; Rieger anomaly; Scoliosis; Seizures; Severe postnatal growth retardation; Short philtrum; Short stature; Short upper lip; Small for gestational age; Sporadic; Stenosis of the external auditory canal; Stereotypy; Strabismus; Talipes equinovarus; Ventricular septal defect; Ventriculomegaly; Vertebral fusion; Wide nasal bridge
CTBP14p16.398.92%gene with protein product602618Abnormal form of the vertebral bodies; Abnormal sternal ossification; Abnormality of the pinna; Absent septum pellucidum; Accessory spleen; Autosomal dominant inheritance; Cavum septum pellucidum; Cleft palate; Cleft upper lip; Convex nasal ridge; Craniofacial asymmetry; Decreased fetal movement; Decreased muscle mass; Delayed skeletal maturation; Downturned corners of mouth; Ectopia pupillae; Epicanthus; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hemangioma; High forehead; Highly arched eyebrow; Hip dislocation; Hyperconvex fingernails; Hypertelorism; Hypodontia; Intellectual disability, severe; Intrauterine growth retardation; Kyphosis; Low posterior hairline; Malrotation of small bowel; Metatarsus adductus; Microcephaly; Micrognathia; Nystagmus; Periventricular cysts; Preauricular pit; Preauricular skin tag; Precocious puberty; Prominent glabella; Proptosis; Pseudoepiphyses of the metacarpals; Ptosis; Radioulnar synostosis; Rib fusion; Rib segmentation abnormalities; Rieger anomaly; Scoliosis; Seizures; Severe postnatal growth retardation; Short philtrum; Short stature; Short upper lip; Small for gestational age; Sporadic; Stenosis of the external auditory canal; Stereotypy; Strabismus; Talipes equinovarus; Ventricular septal defect; Ventriculomegaly; Vertebral fusion; Wide nasal bridge
DOK74p16.399.82%gene with protein product610285C4orf25Abnormality of abdomen morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the immune system; Absent palmar crease; Absent septum pellucidum; Akinesia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Blepharophimosis; Bulbar palsy; Camptodactyly of finger; Cavum septum pellucidum; Cerebellar hypoplasia; Cleft palate; Cryptorchidism; Cystic hygroma; Depressed nasal bridge; Depressed nasal tip; Distal amyotrophy; Easy fatigability; Elbow ankylosis; Excessive daytime somnolence; Facial palsy; Fatigable weakness; Fetal akinesia sequence; Generalized amyotrophy; Gowers sign; High, narrow palate; Hydrocephalus; Hypertelorism; Hypokinesia; Intrauterine growth retardation; Juvenile onset; Long philtrum; Micrognathia; Mildly elevated creatine phosphokinase; Multiple joint contractures; Muscle cramps; Narrow mouth; Polyhydramnios; Posteriorly rotated ears; Premature birth; Proptosis; Proximal amyotrophy; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Rocker bottom foot; Scoliosis; Short neck; Short palpebral fissure; Short umbilical cord; Slender long bone; Small for gestational age; Small placenta; Talipes equinovarus; Telecanthus; Thin ribs; Thoracic hypoplasia; Ulnar deviation of the hand; Waddling gait
FGFRL14p16.399.98%gene with protein product605830Abnormal form of the vertebral bodies; Abnormal sternal ossification; Abnormality of the pinna; Absent septum pellucidum; Accessory spleen; Autosomal dominant inheritance; Cavum septum pellucidum; Cleft palate; Cleft upper lip; Convex nasal ridge; Craniofacial asymmetry; Decreased fetal movement; Decreased muscle mass; Delayed skeletal maturation; Downturned corners of mouth; Ectopia pupillae; Epicanthus; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hemangioma; High forehead; Highly arched eyebrow; Hip dislocation; Hyperconvex fingernails; Hypertelorism; Hypodontia; Intellectual disability, severe; Intrauterine growth retardation; Kyphosis; Low posterior hairline; Malrotation of small bowel; Metatarsus adductus; Microcephaly; Micrognathia; Nystagmus; Periventricular cysts; Preauricular pit; Preauricular skin tag; Precocious puberty; Prominent glabella; Proptosis; Pseudoepiphyses of the metacarpals; Ptosis; Radioulnar synostosis; Rib fusion; Rib segmentation abnormalities; Rieger anomaly; Scoliosis; Seizures; Severe postnatal growth retardation; Short philtrum; Short stature; Short upper lip; Small for gestational age; Sporadic; Stenosis of the external auditory canal; Stereotypy; Strabismus; Talipes equinovarus; Ventricular septal defect; Ventriculomegaly; Vertebral fusion; Wide nasal bridge
LETM14p16.3100%gene with protein product604407Abnormal form of the vertebral bodies; Abnormal heart valve morphology; Abnormal sternal ossification; Abnormality of the kidney; Abnormality of the pinna; Absent septum pellucidum; Accessory spleen; Aplasia cutis congenita of scalp; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Ataxia; Atrial septal defect; Autosomal dominant inheritance; Calvarial skull defect; Cavum septum pellucidum; Cleft palate; Cleft upper lip; Congenital diaphragmatic hernia; Convex nasal ridge; Craniofacial asymmetry; Cryptorchidism; Decreased fetal movement; Decreased muscle mass; Delayed skeletal maturation; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Ectopia pupillae; Epicanthus; Failure to thrive; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemangioma; High anterior hairline; High forehead; Highly arched eyebrow; Hip dislocation; Hyperconvex fingernails; Hypertelorism; Hypodontia; Hypoplastic pubic rami; Hypospadias; Intellectual disability, severe; Intrauterine growth retardation; Iris coloboma; Kyphosis; Low posterior hairline; Low-set, posteriorly rotated ears; Malrotation of small bowel; Metatarsus adductus; Microcephaly; Micrognathia; Microtia; Muscular hypotonia; Nystagmus; Optic atrophy; Periventricular cysts; Preauricular pit; Preauricular skin tag; Preaxial hand polydactyly; Precocious puberty; Prominent glabella; Proptosis; Pseudoepiphyses of the metacarpals; Ptosis; Radioulnar synostosis; Rib fusion; Rib segmentation abnormalities; Rieger anomaly; Sacral dimple; Scoliosis; Seizures; Severe postnatal growth retardation; Short hallux; Short philtrum; Short stature; Short thumb; Short upper lip; Small for gestational age; Split hand; Sporadic; Stenosis of the external auditory canal; Stereotypy; Strabismus; Talipes equinovarus; Tethered cord; Ventricular septal defect; Ventriculomegaly; Vertebral fusion; Wide nasal bridge
MUSK9q31.3100%gene with protein product601296Abnormality of abdomen morphology; Abnormality of pelvic girdle bone morphology; Absent palmar crease; Absent septum pellucidum; Akinesia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Blepharophimosis; Camptodactyly of finger; Cavum septum pellucidum; Cerebellar hypoplasia; Cleft palate; Cryptorchidism; Cystic hygroma; Depressed nasal bridge; Depressed nasal tip; Easy fatigability; Elbow ankylosis; Excessive daytime somnolence; Facial palsy; Fetal akinesia sequence; Generalized amyotrophy; Gowers sign; High, narrow palate; Hydrocephalus; Hypertelorism; Hypokinesia; Infantile onset; Intrauterine growth retardation; Long philtrum; Micrognathia; Multiple joint contractures; Muscular hypotonia; Narrow mouth; Neck muscle weakness; Neonatal hypotonia; Ophthalmoplegia; Polyhydramnios; Posteriorly rotated ears; Premature birth; Proptosis; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Rocker bottom foot; Scoliosis; Short neck; Short palpebral fissure; Short umbilical cord; Slender long bone; Small for gestational age; Small placenta; Talipes equinovarus; Telecanthus; Thin ribs; Thoracic hypoplasia; Ulnar deviation of the hand
NSD15q35.3100%gene with protein product606681STOAbnormal glucose tolerance; Abnormality of immune system physiology; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormally low-pitched voice; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Advanced eruption of teeth; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Atrial septal defect; Autosomal dominant inheritance; Behavioral abnormality; Broad foot; Broad forehead; Broad thumb; Camptodactyly of finger; Cardiomegaly; Cardiomyopathy; Cavum septum pellucidum; Coarse facial features; Conductive hearing impairment; Cryptorchidism; Dandy-Walker malformation; Deep philtrum; Deep-set nails; Delayed skeletal maturation; Depressed nasal ridge; Diastasis recti; Dolichocephaly; Downslanted palpebral fissures; Enlarged cisterna magna; Enlarged kidney; Expressive language delay; Feeding difficulties in infancy; Fine hair; Frontal bossing; Genu valgum; Global developmental delay; Gonadoblastoma; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; High anterior hairline; High forehead; High palate; High, narrow palate; Hoarse voice; Hypermetropia; Hyperreflexia; Hypertelorism; Hypoglycemia; Hypoplastic toenails; Inguinal hernia; Intellectual disability; Joint laxity; Joint stiffness; Large fontanelles; Large hands; Long foot; Long philtrum; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Macrotia; Mandibular prognathia; Microcephaly; Micrognathia; Midface retrusion; Muscular hypotonia; Myopia; Narrow palate; Neonatal hypoglycemia; Neonatal hypotonia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Nystagmus; Obesity; Omphalocele; Otitis media; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Partial agenesis of the corpus callosum; Patent ductus arteriosus; Pes planus; Pointed chin; Poor coordination; Posterior helix pit; Precocious puberty; Prominent forehead; Prominent metopic ridge; Prominent occiput; Proptosis; Redundant skin; Renal cortical cysts; Retrognathia; Round face; Scoliosis; Seizures; Short stature; Small nail; Spasticity; Specific learning disability; Sporadic; Strabismus; Tall stature; Thin nail; Ventricular septal defect; Ventriculomegaly; Vesicoureteral refluxObesity
NSD24p16.399.98%gene with protein product602952WHSC1Abnormal form of the vertebral bodies; Abnormal heart valve morphology; Abnormal sternal ossification; Abnormality of the kidney; Abnormality of the pinna; Absent septum pellucidum; Accessory spleen; Aplasia cutis congenita of scalp; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Ataxia; Atrial septal defect; Autosomal dominant inheritance; Calvarial skull defect; Cavum septum pellucidum; Cleft palate; Cleft upper lip; Congenital diaphragmatic hernia; Convex nasal ridge; Craniofacial asymmetry; Cryptorchidism; Decreased fetal movement; Decreased muscle mass; Delayed skeletal maturation; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Ectopia pupillae; Epicanthus; Failure to thrive; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemangioma; High anterior hairline; High forehead; Highly arched eyebrow; Hip dislocation; Hyperconvex fingernails; Hypertelorism; Hypodontia; Hypoplastic pubic rami; Hypospadias; Intellectual disability, severe; Intrauterine growth retardation; Iris coloboma; Kyphosis; Low posterior hairline; Low-set, posteriorly rotated ears; Malrotation of small bowel; Metatarsus adductus; Microcephaly; Micrognathia; Microtia; Muscular hypotonia; Nystagmus; Optic atrophy; Periventricular cysts; Preauricular pit; Preauricular skin tag; Preaxial hand polydactyly; Precocious puberty; Prominent glabella; Proptosis; Pseudoepiphyses of the metacarpals; Ptosis; Radioulnar synostosis; Rib fusion; Rib segmentation abnormalities; Rieger anomaly; Sacral dimple; Scoliosis; Seizures; Severe postnatal growth retardation; Short hallux; Short philtrum; Short stature; Short thumb; Short upper lip; Small for gestational age; Split hand; Sporadic; Stenosis of the external auditory canal; Stereotypy; Strabismus; Talipes equinovarus; Tethered cord; Ventricular septal defect; Ventriculomegaly; Vertebral fusion; Wide nasal bridge
PACS111q13.1-q13.99.99%gene with protein product607492Aggressive behavior; Autosomal dominant inheritance; Bulbous nose; Cavum septum pellucidum; Constipation; Cryptorchidism; Delayed speech and language development; Diastema; Downslanted palpebral fissures; Downturned corners of mouth; Feeding difficulties; Generalized hypotonia; Global developmental delay; Highly arched eyebrow; Hypertelorism; Intellectual disability; Long eyelashes; Low anterior hairline; Low-set ears; Macrotia; Myopia; Nystagmus; Pes planus; Ptosis; Seizures; Single umbilical artery; Smooth philtrum; Speech apraxia; Strabismus; Synophrys; Thin upper lip vermilion; Volvulus; Wide intermamillary distance; Wide mouth
PIK3CA3q26.3299.76%gene with protein product171834Abdominal pain; Abnormality of cardiovascular system morphology; Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system; Abnormality of the cerebral vasculature; Abnormality of the penis; Adenoma sebaceum; Adult onset; Alveolar cell carcinoma; Angioid streaks of the fundus; Anxiety; Aplasia/Hypoplasia of the cerebellum; Arteriovenous malformation; Asymmetric growth; Ataxia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast carcinoma; Broad forehead; Capillary malformation; Cataract; Cavernous hemangioma; Cavum septum pellucidum; Cognitive impairment; Colon cancer; Colonic diverticula; Colorectal polyposis; Conjunctival hamartoma; Constipation; Cranial hyperostosis; Cutis marmorata; Death in early adulthood; Death in infancy; Depressed nasal bridge; Depressivity; Downslanted palpebral fissures; Dysgerminoma; Epicanthus; Facial asymmetry; Failure to thrive; Fatigue; Fibroadenoma of the breast; Finger syndactyly; Foot polydactyly; Frontal bossing; Full cheeks; Furrowed tongue; Gastrointestinal hemorrhage; Generalized hyperkeratosis; Generalized hypotonia; Glioblastoma multiforme; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hand polydactyly; Hearing impairment; Hemihypertrophy; Hepatocellular carcinoma; Hereditary nonpolyposis colorectal carcinoma; Hernia; Heterogeneous; High forehead; High palate; Hydrocele testis; Hydrocephalus; Hypermelanotic macule; Hypertelorism; Hyperthyroidism; Hypertonia; Hypoplasia of the maxilla; Hypothyroidism; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intention tremor; Irritability; Joint hyperflexibility; Joint laxity; Kyphosis; Large earlobe; Leukemia; Lipoma; Macrocephaly; Macrodactyly; Macroglossia; Macule; Malabsorption; Megalencephaly; Melanocytic nevus; Meningioma; Micrognathia; Micronodular cirrhosis; Microphthalmia; Migraine; Mucosal telangiectasiae; Muscular hypotonia; Myopia; Narrow mouth; Nausea and vomiting; Neoplasm of the rectum; Neoplasm of the stomach; Nephroblastoma; Nevus flammeus; Numerous nevi; Ovarian cyst; Ovarian papillary adenocarcinoma; Overgrowth; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Polydactyly; Polymicrogyria; Progressive macrocephaly; Renal cell carcinoma; Sandal gap; Scoliosis; Seizures; Skin tags; Smooth philtrum; Somatic mutation; Splenomegaly; Sporadic; Stomach cancer; Subacute progressive viral hepatitis; Subcutaneous lipoma; Subcutaneous nodule; Syndactyly; Telangiectasia of the skin; Thyroid adenoma; Thyroiditis; Toe syndactyly; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma; Varicocele; Venous malformation; Ventricular septal defect; Ventriculomegaly; Verrucae; Visceral angiomatosis; Weight loss; Wide mouth
RAPSN11p11.2100%gene with protein product601592Abnormality of abdomen morphology; Abnormality of pelvic girdle bone morphology; Absent palmar crease; Absent septum pellucidum; Akinesia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Blepharophimosis; Camptodactyly of finger; Cavum septum pellucidum; Cerebellar hypoplasia; Cleft palate; Congenital onset; Cryptorchidism; Cystic hygroma; Decreased fetal movement; Depressed nasal bridge; Depressed nasal tip; Easy fatigability; Elbow ankylosis; Excessive daytime somnolence; Feeding difficulties; Fetal akinesia sequence; Generalized amyotrophy; Gowers sign; High palate; High, narrow palate; Hydrocephalus; Hypertelorism; Hypokinesia; Intrauterine growth retardation; Long face; Long philtrum; Micrognathia; Multiple joint contractures; Muscular hypotonia; Narrow mouth; Neonatal hypotonia; Polyhydramnios; Posteriorly rotated ears; Premature birth; Proptosis; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Rocker bottom foot; Scoliosis; Short neck; Short palpebral fissure; Short umbilical cord; Slender long bone; Small for gestational age; Small placenta; Talipes equinovarus; Telecanthus; Thin ribs; Thoracic hypoplasia; Ulnar deviation of the hand
SPECC1L22q11.23100%gene with protein product614140CYTSAAbnormality of the helix; Abnormality of the kidney; Abnormality of the skeletal system; Abnormality of the ureter; Absent gallbladder; Agenesis of corpus callosum; Anal atresia; Anal stenosis; Aplasia/Hypoplasia of the cerebellar vermis; Aspiration; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid scrotum; Bifid uvula; Brachydactyly; Cavum septum pellucidum; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Coarctation of aorta; Conductive hearing impairment; Cranial asymmetry; Cryptorchidism; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Dysphagia; Epicanthus; Everted lower lip vermilion; Facial cleft; Finger syndactyly; Frontal bossing; Generalized hypotonia; Global developmental delay; Hiatus hernia; High palate; Highly arched eyebrow; Hypertelorism; Hypospadias; Infantile onset; Inguinal hernia; Intellectual disability; Laryngeal cleft; Long philtrum; Low-set ears; Micrognathia; Patent ductus arteriosus; Posteriorly rotated ears; Preauricular pit; Prominent forehead; Prominent nasal bridge; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Round face; Shawl scrotum; Short lingual frenulum; Short nose; Short toe; Smooth philtrum; Sporadic; Strabismus; Telecanthus; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Tracheoesophageal fistula; Umbilical hernia; Ventricular septal defect; Ventriculomegaly; Weak cry; Wide nasal bridgeDisorders of Sex Development


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