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
Protruding tongue

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ATRXXq21.199.92%gene with protein product300032, 300504RAD54, JMS, MRX52Abnormal hemoglobin; Abnormality of blood and blood-forming tissues; Abnormality of fontanelles; Abnormality of metabolism/homeostasis; Absent frontal sinuses; Ambiguous genitalia; Anorexia; Anteverted nares; Autism; Brachydactyly; Bruising susceptibility; Cerebral atrophy; Clinodactyly; Coarse facial features; Constipation; Coxa valga; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Drooling; Dysphasia; Dyspnea; Epicanthus; Episodic abdominal pain; Everted lower lip vermilion; Exotropia; Fatigue; Flat face; Gastroesophageal reflux; Genu valgum; Global developmental delay; Hemivertebrae; Hemoglobin H; High palate; Hydronephrosis; Hyperactivity; Hyperreflexia; Hypertelorism; Hypochromic microcytic anemia; Hypogonadism; Hypoplasia of penis; Hypoplastic philtrum; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intermittent diarrhea; Iron deficiency anemia; Kyphoscoliosis; Low-set ears; Lower limb hypertonia; Macroglossia; Malar flattening; Male pseudohermaphroditism; Microcephaly; Microcytic anemia; Micrognathia; Micropenis; Microtia; Midface retrusion; Muscular hypotonia; Myelodysplasia; Narrow forehead; Nausea and vomiting; Neutropenia; Open mouth; Optic atrophy; Paroxysmal bursts of laughter; Perimembranous ventricular septal defect; Pes planus; Phenotypic variability; Poor appetite; Posteriorly rotated ears; Postnatal growth retardation; Profound global developmental delay; Protruding tongue; Ptosis; Radial deviation of finger; Reduced alpha/beta synthesis ratio; Renal agenesis; Renal hypoplasia; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Shawl scrotum; Short neck; Short nose; Short stature; Short upper lip; Slender finger; Spasticity; Talipes calcaneovalgus; Talipes equinovarus; Tapered finger; Telecanthus; Tented upper lip vermilion; Thick lower lip vermilion; Thin upper lip vermilion; Thrombocytopenia; Triangular nasal tip; U-Shaped upper lip vermilion; Umbilical hernia; Upslanted palpebral fissure; Vesicoureteral reflux; Vomiting; Weight loss; Wide mouth; Wide nasal bridge; Widely-spaced maxillary central incisors; X-linked dominant inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
ATRXXq21.199.92%gene with protein product300032, 300504RAD54, JMS, MRX52Abnormal hemoglobin; Abnormality of blood and blood-forming tissues; Abnormality of fontanelles; Abnormality of metabolism/homeostasis; Absent frontal sinuses; Ambiguous genitalia; Anorexia; Anteverted nares; Autism; Brachydactyly; Bruising susceptibility; Cerebral atrophy; Clinodactyly; Coarse facial features; Constipation; Coxa valga; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Drooling; Dysphasia; Dyspnea; Epicanthus; Episodic abdominal pain; Everted lower lip vermilion; Exotropia; Fatigue; Flat face; Gastroesophageal reflux; Genu valgum; Global developmental delay; Hemivertebrae; Hemoglobin H; High palate; Hydronephrosis; Hyperactivity; Hyperreflexia; Hypertelorism; Hypochromic microcytic anemia; Hypogonadism; Hypoplasia of penis; Hypoplastic philtrum; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intermittent diarrhea; Iron deficiency anemia; Kyphoscoliosis; Low-set ears; Lower limb hypertonia; Macroglossia; Malar flattening; Male pseudohermaphroditism; Microcephaly; Microcytic anemia; Micrognathia; Micropenis; Microtia; Midface retrusion; Muscular hypotonia; Myelodysplasia; Narrow forehead; Nausea and vomiting; Neutropenia; Open mouth; Optic atrophy; Paroxysmal bursts of laughter; Perimembranous ventricular septal defect; Pes planus; Phenotypic variability; Poor appetite; Posteriorly rotated ears; Postnatal growth retardation; Profound global developmental delay; Protruding tongue; Ptosis; Radial deviation of finger; Reduced alpha/beta synthesis ratio; Renal agenesis; Renal hypoplasia; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Shawl scrotum; Short neck; Short nose; Short stature; Short upper lip; Slender finger; Spasticity; Talipes calcaneovalgus; Talipes equinovarus; Tapered finger; Telecanthus; Tented upper lip vermilion; Thick lower lip vermilion; Thin upper lip vermilion; Thrombocytopenia; Triangular nasal tip; U-Shaped upper lip vermilion; Umbilical hernia; Upslanted palpebral fissure; Vesicoureteral reflux; Vomiting; Weight loss; Wide mouth; Wide nasal bridge; Widely-spaced maxillary central incisors; X-linked dominant inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
CCDC22Xp11.2399.94%gene with protein product300859CXorf37Abnormal mitral valve morphology; Abnormal tricuspid valve morphology; Abnormality of the fontanelles or cranial sutures; Aortic valve stenosis; Aplasia/Hypoplasia of the cerebellum; Atrial septal defect; Atrioventricular canal defect; Broad forehead; Broad hallux; Broad neck; Camptodactyly; Cerebellar hypoplasia; Cleft palate; Clinodactyly; Cryptorchidism; Dandy-Walker malformation; Death in infancy; Depressed nasal bridge; Downslanted palpebral fissures; Frontal bossing; Generalized hypotonia; Global developmental delay; High, narrow palate; Hydrocephalus; Hypertelorism; Hypoplastic left heart; Intellectual disability; Kyphosis; Low posterior hairline; Low-set ears; Macrocephaly; Muscular hypotonia; Neurological speech impairment; Overlapping toe; Patent ductus arteriosus; Poor speech; Prominent occiput; Protruding tongue; Pulmonic stenosis; Recurrent respiratory infections; Scoliosis; Short distal phalanx of finger; Short nose; Short philtrum; Short stature; Syndactyly; Tetralogy of Fallot; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge; X-linked recessive inheritance
CHUK10q24.3199.92%gene with protein product600664TCF16Absent external genitalia; Anotia; Aplasia of the sweat glands; Autosomal recessive inheritance; Lower limb undergrowth; Mandibular aplasia; Microcephaly; Omphalocele; Protruding tongue; Thin skin; Upper limb undergrowthEctodermal Dysplasia
DNMT3B20q11.21100%gene with protein product602900Abnormality of chromosome stability; Abnormality of neutrophils; Anemia; Anteverted nares; Autosomal recessive inheritance; Bronchiectasis; Cellular immunodeficiency; Chronic bronchitis; Communicating hydrocephalus; Decrease in T cell count; Decreased antibody level in blood; Depressed nasal bridge; Diarrhea; Epicanthus; Failure to thrive; Flat face; Global developmental delay; Hypertelorism; Immunodeficiency; Intellectual disability; Low-set ears; Lymphopenia; Macrocephaly; Macroglossia; Malabsorption; Malar flattening; Micrognathia; Pneumonia; Protruding tongue; Recurrent respiratory infections; Short nose; Short stature; Sinusitis
EHMT19q34.399.84%gene with protein product607001EHMT1-IT1Abnormal cardiac septum morphology; Abnormality of the pinna; Absence seizures; Aggressive behavior; Anteverted nares; Aphasia; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Coarse facial features; Cryptorchidism; Delayed speech and language development; Downturned corners of mouth; Dysphasia; Echolalia; Epileptic spasms; Everted lower lip vermilion; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Highly arched eyebrow; Hypertelorism; Hypospadias; Intellectual disability; Intellectual disability, severe; Macroglossia; Malar flattening; Mandibular prognathia; Microcephaly; Micropenis; Midface retrusion; Muscular hypotonia; Mutism; Obesity; Obsessive-compulsive behavior; Protruding tongue; Recurrent respiratory infections; Short nose; Single transverse palmar crease; Sleep disturbance; Specific learning disability; Sporadic; Status epilepticus; Stereotypy; Synophrys; U-Shaped upper lip vermilion; Upslanted palpebral fissureObesity
EHMT19q34.399.84%gene with protein product607001EHMT1-IT1Abnormal cardiac septum morphology; Abnormality of the pinna; Absence seizures; Aggressive behavior; Anteverted nares; Aphasia; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Coarse facial features; Cryptorchidism; Delayed speech and language development; Downturned corners of mouth; Dysphasia; Echolalia; Epileptic spasms; Everted lower lip vermilion; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Highly arched eyebrow; Hypertelorism; Hypospadias; Intellectual disability; Intellectual disability, severe; Macroglossia; Malar flattening; Mandibular prognathia; Microcephaly; Micropenis; Midface retrusion; Muscular hypotonia; Mutism; Obesity; Obsessive-compulsive behavior; Protruding tongue; Recurrent respiratory infections; Short nose; Single transverse palmar crease; Sleep disturbance; Specific learning disability; Sporadic; Status epilepticus; Stereotypy; Synophrys; U-Shaped upper lip vermilion; Upslanted palpebral fissureObesity
FAM20C7p22.3100%gene with protein product611061Anteverted nares; Autosomal recessive inheritance; Brachyturricephaly; Cerebral calcification; Choanal atresia; Choanal stenosis; Cleft palate; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Elevated alkaline phosphatase; Gingival fibromatosis; Gingival overgrowth; Global developmental delay; High palate; Hypertelorism; Hypophosphatemia; Increased bone mineral density; Intrauterine growth retardation; Large fontanelles; Low-set ears; Malar flattening; Mandibular aplasia; Median cleft lip and palate; Microcephaly; Micrognathia; Midface retrusion; Narrow mouth; Neonatal death; Posteriorly rotated ears; Proptosis; Protruding tongue; Pulmonary hypoplasia; Respiratory distress; Respiratory failure; Retrognathia; Short neck; Short nose; Short stature; Thoracic hypoplasia
FTO16q12.2100%gene with protein product610966Anteverted nares; Autosomal recessive inheritance; Bifid uvula; Brachydactyly; Cleft palate; Coarse facial features; Cryptorchidism; Cutis marmorata; Dandy-Walker malformation; Failure to thrive; Global developmental delay; Hydrocephalus; Hypertonia; Hypertrophic cardiomyopathy; Intrauterine growth retardation; Lissencephaly; Macroglossia; Microcephaly; Obesity; Patent ductus arteriosus; Protruding tongue; Retrognathia; Seizures; Sensorineural hearing impairment; Short neck; Skull asymmetry; Small nail; Umbilical hernia; Ventricular septal defect
GATA1Xp11.23100%gene with protein product305371GF1Abnormal bleeding; Abnormal blistering of the skin; Abnormal hemoglobin; Abnormal lactate dehydrogenase activity; Abnormal megakaryocyte morphology; Abnormal platelet function; Abnormal urinary color; Abnormality of multiple cell lineages in the bone marrow; Abnormality of reticulocytes; Abnormality of the foot; Abnormality of the genital system; Abnormality of the hand; Abnormality of the heme biosynthetic pathway; Abnormality of the urinary system; Acanthocytosis; Acute megakaryocytic leukemia; Aganglionic megacolon; Alzheimer disease; Anal atresia; Anemia; Anemia of inadequate production; Anisocytosis; Arrhythmia; Atlantoaxial instability; Atypical scarring of skin; Brachycephaly; Broad palm; Bruising susceptibility; Brushfield spots; Cleft palate; Complete atrioventricular canal defect; Conductive hearing impairment; Congenital thrombocytopenia; Cryptorchidism; Cutaneous photosensitivity; Delayed puberty; Duodenal stenosis; Elliptocytosis; Epicanthus; Epistaxis; Fatigue; Flat face; Hemolytic anemia; Hypertrichosis; Hypochromic anemia; Hypoplastic iliac wing; Hypothyroidism; Immunodeficiency; Increased hemoglobin; Infantile onset; Intellectual disability; Joint laxity; Macrocytic anemia; Macroglossia; Macrothrombocytopenia; Malar flattening; Microtia; Migraine; Muscular hypotonia; Myeloproliferative disorder; Neutropenia; Osteopenia; Pallor; Persistent bleeding after trauma; Petechiae; Poikilocytosis; Prolonged bleeding time; Protruding tongue; Recurrent fractures; Recurrent skin infections; Reticulocytosis; Shallow acetabular fossae; Short middle phalanx of the 5th finger; Short palm; Short stature; Single transverse palmar crease; Splenomegaly; Sporadic; Thickened nuchal skin fold; Thrombocytopenia; Upslanted palpebral fissure; Variable expressivity; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
INPP5E9q34.3100%gene with protein product613037JBTS1Abnormality of saccadic eye movements; Abnormality of the foot; Agenesis of cerebellar vermis; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Childhood-onset truncal obesity; Chorioretinal coloboma; Congenital hepatic fibrosis; Delayed speech and language development; Dysgenesis of the cerebellar vermis; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hemifacial spasm; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Highly arched eyebrow; Hyperactivity; Hyperreflexia; Hypoplasia of the brainstem; Impaired smooth pursuit; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Long face; Low-set ears; Macrocephaly; Macroglossia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Neonatal breathing dysregulation; Nephropathy; Nystagmus; Oculomotor apraxia; Optic nerve coloboma; Phenotypic variability; Postaxial hand polydactyly; Prominent forehead; Protruding tongue; Ptosis; Retinal dystrophy; Self-mutilation; Triangular-shaped open mouth; Truncal obesity; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
MGAT214q21.3100%gene with protein product602616Abnormality of the rib cage; Aggressive behavior; Autosomal recessive inheritance; Brachycephaly; Coxa valga; Diastema; Downslanted palpebral fissures; Everted lower lip vermilion; Failure to thrive; Generalized hypotonia; Gingival overgrowth; Intellectual disability, progressive; Intellectual disability, severe; Long eyelashes; Low hanging columella; Macrocephaly; Macrodontia; Macrotia; Microcephaly; Midfrontal capillary hemangioma; Open mouth; Osteopenia; Pectus excavatum; Pes planus; Posteriorly rotated ears; Postnatal growth retardation; Prominent nasal bridge; Protruding tongue; Proximal placement of thumb; Reduced antithrombin III activity; Reduced factor IX activity; Reduced factor XI activity; Reduced factor XII activity; Retrognathia; Seizures; Self-mutilation; Sensorineural hearing impairment; Short neck; Short stature; Slender long bone; Stereotypy; Tall stature; Thick eyebrow; Thin vermilion border; Thoracolumbar kyphoscoliosis; Type II transferrin isoform profile; Unsteady gait; Ventricular septal defect; Wide mouth
NFIX19p13.1393.01%gene with protein product164005Accelerated skeletal maturation; Advanced eruption of teeth; Agenesis of corpus callosum; Anteverted nares; Anxiety; Astigmatism; Atlantoaxial dislocation; Atrial septal defect; Autosomal dominant inheritance; Blue sclerae; Bowing of the long bones; Bruising susceptibility; Bullet-shaped middle phalanges of the hand; Cerebral atrophy; Choanal atresia; Choanal stenosis; Conductive hearing impairment; Coxa valga; Cutis marmorata; Death in childhood; Decreased body weight; Delayed speech and language development; Depressed nasal bridge; Distal widening of metacarpals; Downslanted palpebral fissures; Eclabion; Everted lower lip vermilion; Failure to thrive; Frontal bossing; Generalized hirsutism; Generalized hypotonia; Gingival overgrowth; Glossoptosis; Hearing impairment; High forehead; Hypermetropia; Hypertelorism; Hypoplasia of the odontoid process; Increased susceptibility to fractures; Intellectual disability; Irregular dentition; Joint hyperflexibility; Large sternal ossification centers; Laryngomalacia; Long face; Long fingers; Low-set ears; Macrocephaly; Macrogyria; Malar flattening; Mandibular prognathia; Midface retrusion; Motor delay; Narrow face; Narrow mouth; Nystagmus; Obstructive sleep apnea; Omphalocele; Open mouth; Overfolded helix; Overgrowth; Patent ductus arteriosus; Pectus excavatum; Prominence of the premaxilla; Prominent forehead; Proptosis; Protruding tongue; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Reduced bone mineral density; Retrognathia; Scoliosis; Shallow orbits; Short distal phalanx of finger; Short mandibular rami; Short nose; Short philtrum; Short sternum; Slender long bone; Sporadic; Strabismus; Synophrys; Tall stature; Thick eyebrow; Thin skin; Umbilical hernia; Ventriculomegaly
NRXN12p16.399.82%gene with protein product600565Autosomal recessive inheritance; Constipation; Drooling; Epileptic encephalopathy; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; Hyperventilation; Intellectual disability, severe; Protruding tongue; Pulmonic stenosis; Scoliosis; Strabismus; Wide mouth
PEX17q21.299.9%gene with protein product602136ZWS1, ZWSAbnormal chorioretinal morphology; Abnormal electroretinogram; Abnormal eyelid morphology; Abnormal hair quantity; Abnormal morphology of the nasolacrimal system; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of nail color; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the helix; Abnormality of the liver; Abnormality of the palate; Adrenal hypoplasia; Albuminuria; Amelogenesis imperfecta; Aminoaciduria; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Areflexia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bell-shaped thorax; Bilateral single transverse palmar creases; Brachyturricephaly; Breech presentation; Brushfield spots; Cataract; Cirrhosis; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Convex nasal ridge; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Diabetes mellitus; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; External ear malformation; External genital hypoplasia; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Glaucoma; Global developmental delay; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Heterotopia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperoxaluria; Hyperreflexia; Hypertelorism; Hypogonadism; Hypoplasia of dental enamel; Hypoplastic olfactory lobes; Hyporeflexia; Hypospadias; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intrahepatic biliary dysgenesis; Jaundice; Large hands; Leukodystrophy; Leukonychia; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Malabsorption; Malar flattening; Metatarsus adductus; Microcephaly; Micrognathia; Midface retrusion; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic disc pallor; Patent ductus arteriosus; Pigmentary retinopathy; Pili torti; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Primary amenorrhea; Profound global developmental delay; Progressive muscle weakness; Prolonged neonatal jaundice; Protruding tongue; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Reduced tendon reflexes; Redundant neck skin; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rocker bottom foot; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Strabismus; Subependymal cysts; Talipes equinovarus; Taurodontia; Thin eyebrow; Ulnar deviation of the hand; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge; Widely patent fontanelles and sutures
PTH1R3p21.3199.98%gene with protein product168468PTHR, PTHR1Abnormal trabecular bone morphology; Abnormality of epiphysis morphology; Abnormality of the acetabulum; Abnormality of the fingertips; Abnormality of the metaphysis; Absence of the sacrum; Accelerated skeletal maturation; Advanced ossification of carpal bones; Advanced tarsal ossification; Anteverted nares; Aplastic clavicles; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bowing of the long bones; Brachycephaly; Broad clavicles; Broad foot; Broad palm; Cataract; Choanal atresia; Choanal stenosis; Clinodactyly of the 5th finger; Clubbing of fingers; Cubitus valgus; Delayed epiphyseal ossification; Depressed nasal bridge; Distal shortening of limbs; Elevated alkaline phosphatase; Epiphyseal dysplasia; Failure of eruption of permanent teeth; Fibular hypoplasia; Flared metaphysis; Generalized osteosclerosis; Hearing impairment; High iliac wings; Hip contracture; Hydrops fetalis; Hypercalcemia; Hypercalciuria; Hyperphosphaturia; Hypertelorism; Hypodontia; Hypoparathyroidism; Hypophosphatemia; Increased bone mineral density; Joint stiffness; Knee flexion contracture; Laryngeal calcification; Lethal skeletal dysplasia; Limited elbow flexion; Limited hip movement; Long philtrum; Low-set ears; Malar flattening; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal irregularity; Micrognathia; Micromelia; Misalignment of teeth; Multiple enchondromatosis; Narrow chest; Narrow pelvis bone; Natal tooth; Neonatal short-limb short stature; Nephrocalcinosis; Osteolysis; Osteopenia; Pathologic fracture; Persistence of primary teeth; Platyspondyly; Polyhydramnios; Premature birth; Prominent supraorbital arches in adult; Proptosis; Protruding tongue; Protuberant abdomen; Pulmonary hypoplasia; Rhizomelia; Severe short stature; Short foot; Short long bone; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short toe; Skeletal dysplasia; Squared iliac bones; Stillbirth; Subcutaneous nodule; Synostosis of joints; Telecanthus; Thick skull base; Thin bony cortex; Visceral angiomatosis; Waddling gaitEctodermal Dysplasia
UBE3A15q11.2100%gene with protein product601623EPVE6AP, HPVE6AAbsent speech; Apraxia; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Blue irides; Brachycephaly; Broad-based gait; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Clumsiness; Constipation; Deeply set eye; Delayed speech and language development; Drooling; EEG abnormality; Exotropia; Fair hair; Feeding difficulties in infancy; Flat occiput; Generalized hypotonia; Global developmental delay; Hyperactivity; Hyperreflexia; Hypopigmentation of the skin; Hypoplasia of the maxilla; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Limb tremor; Macroglossia; Mandibular prognathia; Motor delay; Muscular hypotonia; Myopia; Nystagmus; Obesity; Obsessive-compulsive behavior; Paroxysmal bursts of laughter; Postnatal microcephaly; Progressive gait ataxia; Protruding tongue; Scoliosis; Seizures; Sleep-wake cycle disturbance; Sporadic; Strabismus; Wide mouth; Widely spaced teeth
VPS13A9q21.299.95%gene with protein product605978CHACAbnormal bleeding; Abnormal urinary color; Abnormality of vision; Acanthocytosis; Aggressive behavior; Anxiety; Areflexia; Ataxia; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Caudate atrophy; Cerebral cortical atrophy; Chorea; Death in early adulthood; Developmental regression; Difficulty in tongue movements; Disinhibition; Distal upper limb muscle weakness; Drooling; Dysarthria; Dysgraphia; Dysphagia; Dystonia; Elevated serum creatine phosphokinase; EMG abnormality; Fatigue; Gait disturbance; Hyporeflexia; Limb muscle weakness; Memory impairment; Mood changes; Muscle fiber atrophy; Muscular hypotonia; Myopathy; Orofacial dyskinesia; Pallor; Parkinsonism; Peripheral neuropathy; Personality changes; Pes cavus; Progressive; Progressive choreoathetosis; Progressive distal muscular atrophy; Protruding tongue; Psychosis; Seizures; Self-mutilation of tongue and lips due to involuntary movements; Sensory neuropathy; Skeletal muscle atrophy; Tics; Tremor; Ventriculomegaly


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