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
Mild global developmental delay

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCC811p15.1100%gene with protein product600509SUR, HRINSAbnormal heart morphology; Abnormality of fatty-acid metabolism; Abnormality of the ear; Abnormality of the immune system; Abnormality of the pancreatic islet cells; Anteverted nares; Arthrogryposis multiplex congenita; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Coma; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Diarrhea; Downturned corners of mouth; Drowsiness; Elevated hemoglobin A1c; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperreflexia; Hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Insulin resistance; Intellectual disability; Intrauterine growth retardation; Irritability; Ketoacidosis; Ketonuria; Large for gestational age; Late onset; Lethargy; Limb joint contracture; Long philtrum; Microalbuminuria; Microcephaly; Mild global developmental delay; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal hypoglycemia; Neonatal insulin-dependent diabetes mellitus; Pallor; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Progressive neurologic deterioration; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Spasticity; Strabismus; Tachycardia; Transient neonatal diabetes mellitus; Type II diabetes mellitus; Vitamin B1 deficiency; Vomiting; Weight loss
ACTB7p22.1100%gene with protein product102630Abnormality of metabolism/homeostasis; Achalasia; Agenesis of corpus callosum; Anteverted nares; Aortic valve stenosis; Aphasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicuspid aortic valve; Blindness; Cataract; Cerebral cortical hemiatrophy; Chorioretinal coloboma; Cleft palate; Cleft upper lip; Coarse facial features; Cryptorchidism; Death in early adulthood; Delayed cranial suture closure; Depressed nasal tip; Downslanted palpebral fissures; Dysphagia; Dysphasia; Echolalia; Epicanthus; Euryblepharon; Externally rotated hips; Failure to thrive; Feeding difficulties; Full cheeks; Generalized dystonia; Generalized hypotonia; Global developmental delay; Growth delay; Hamartoma; Heterochromia iridis; High forehead; Highly arched eyebrow; Hydronephrosis; Hydroureter; Hypermelanotic macule; Hypertelorism; Hypoplastic scapulae; Immunodeficiency; Intellectual disability; Intellectual disability, mild; Iris coloboma; Joint stiffness; Kyphoscoliosis; Kyphosis; Large fontanelles; Lipoatrophy; Lissencephaly; Long nose; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Macroglossia; Macrogyria; Mental deterioration; Microcephaly; Micrognathia; Micromelia; Micropenis; Mild global developmental delay; Mutism; Oral cleft; Osteochondrosis; Overfolded helix; Pachygyria; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pointed chin; Polymicrogyria; Postnatal growth retardation; Prominent metopic ridge; Prominent nose; Ptosis; Retinoschisis; Retrognathia; Scoliosis; Seizures; Sensorineural hearing impairment; Short columella; Short neck; Short nose; Short stature; Shoulder girdle muscle atrophy; Skeletal dysplasia; Small for gestational age; Specific learning disability; Subcortical cerebral atrophy; Supernumerary nipple; Telecanthus; Thin upper lip vermilion; Thin vermilion border; Trigonocephaly; Wide mouth; Wide nasal bridge; Wide nose
ASPA17p13.2100%gene with protein product608034Abnormality of visual evoked potentials; Aplasia/Hypoplasia involving the central nervous system; Autosomal recessive inheritance; Blindness; Brain atrophy; CNS demyelination; Coma; Delayed closure of the anterior fontanelle; Delayed speech and language development; Developmental regression; Dysphagia; EEG abnormality; Gastroesophageal reflux; Generalized seizures; Global developmental delay; Hearing impairment; Intellectual disability; Lethargy; Macrocephaly; Mild global developmental delay; Muscular hypotonia; Nystagmus; Opisthotonus; Optic atrophy; Seizures; Sleep disturbance; Spasticity; Visual loss
ATR3q2399.98%gene with protein product60121511 pairs of ribs; Abnormal finger flexion creases; Abnormality of dental enamel; Abnormality of the pinna; Abnormally large globe; Absent earlobe; Alopecia; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharophimosis; Cachexia; Carious teeth; Cerebellar vermis hypoplasia; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cognitive impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Convex nasal ridge; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Dislocated radial head; Downslanted palpebral fissures; Elbow flexion contracture; Facial asymmetry; Glaucoma; High palate; Hip dislocation; Hip dysplasia; Hyperactivity; Hypoplasia of dental enamel; Hypoplasia of proximal fibula; Hypoplasia of proximal radius; Hypospadias; Intellectual disability; Intrauterine growth retardation; Ivory epiphyses; Joint hyperflexibility; Large basal ganglia; Low-set ears; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Pachygyria; Pancytopenia; Pes planus; Postnatal growth retardation; Prematurely aged appearance; Prominent nose; Proportionate short stature; Reduced number of teeth; Sandal gap; Scoliosis; Seizures; Selective tooth agenesis; Short stature; Single transverse palmar crease; Sloping forehead; Small anterior fontanelle; Sparse scalp hair; Strabismus; Talipes; TelangiectasiaAplastic Anemia ; Bone Marrow Failure Syndromes ; Disorders of Sex Development; Obesity
ATRIP3p21.31100%gene with protein product606605Abnormality of dental enamel; Absent earlobe; Cachexia; Clinodactyly of the 5th finger; Cognitive impairment; Cone-shaped epiphysis; Convex nasal ridge; Craniosynostosis; Delayed skeletal maturation; Downslanted palpebral fissures; Glaucoma; Hip dysplasia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Prematurely aged appearance; Reduced number of teeth; Sandal gap; Short stature; Sparse scalp hair
CDC617q21.299.92%gene with protein product602627CDC18LAbnormality of epiphysis morphology; Abnormality of the ribs; Anotia; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Elbow dislocation; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; High, narrow palate; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Intrauterine growth retardation; Irregular femoral epiphysis; Joint hyperflexibility; Long philtrum; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microtia; Microtia, third degree; Mild global developmental delay; Motor delay; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Prominent metopic ridge; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Slender long bone; Small earlobe; Triangular faceHeterotaxy
CENPE4q2499.77%gene with protein product117143Abnormality of dental enamel; Absent earlobe; Autosomal recessive inheritance; Cachexia; Cerebellar hypoplasia; Clinodactyly of the 5th finger; Cognitive impairment; Cone-shaped epiphysis; Convex nasal ridge; Cortical gyral simplification; Craniosynostosis; Delayed skeletal maturation; Downslanted palpebral fissures; Glaucoma; Hip dysplasia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Metaphyseal sclerosis; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Partial agenesis of the corpus callosum; Prematurely aged appearance; Prominent nose; Reduced number of teeth; Round face; Sandal gap; Seizures; Short foot; Short stature; Sloping forehead; Small hand; Sparse scalp hair
CENPJ13q12.12-q12100%gene with protein product609279MCPH611 pairs of ribs; Abnormal cortical bone morphology; Abnormality of dental enamel; Absent earlobe; Agenesis of corpus callosum; Autosomal recessive inheritance; Cachexia; Clinodactyly of the 5th finger; Cognitive impairment; Cone-shaped epiphysis; Congenital onset; Convex nasal ridge; Craniosynostosis; Decreased body weight; Delayed skeletal maturation; Downslanted palpebral fissures; Glaucoma; Global developmental delay; Heterogeneous; Heterotopia; High forehead; Hip dysplasia; Hyperreflexia; Hypoplasia of the frontal lobes; Intellectual disability; Intellectual disability, moderate; Intellectual disability, severe; Intrauterine growth retardation; Joint hyperflexibility; Low-set ears; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Pachygyria; Prematurely aged appearance; Reduced number of teeth; Retrognathia; Sandal gap; Short stature; Sloping forehead; Small cerebral cortex; Sparse scalp hair; Steep acetabular roof; Thin upper lip vermilion; Underdeveloped nasal alae; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
CEP15215q21.188.43%gene with protein product613529Abnormal cortical bone morphology; Abnormal cortical gyration; Abnormality of dental enamel; Absent earlobe; Agenesis of corpus callosum; Aggressive behavior; Autosomal recessive inheritance; Bimanual synkinesia; Cachexia; Clinodactyly of the 5th finger; Cognitive impairment; Cone-shaped epiphysis; Convex nasal ridge; Cortical gyral simplification; Craniosynostosis; Delayed skeletal maturation; Downslanted palpebral fissures; Glaucoma; Global developmental delay; Heterotopia; High palate; Hip dysplasia; Hyperreflexia; Hypodontia; Hypoplasia of the frontal lobes; Impulsivity; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint hyperflexibility; Large beaked nose; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Oligodontia; Pachygyria; Prematurely aged appearance; Prominent nasal bridge; Reduced number of teeth; Retrognathia; Sandal gap; Short stature; Sloping forehead; Sparse scalp hair; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
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
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
KCNJ1111p15.1100%gene with protein product600937Abnormal heart morphology; Abnormality of fatty-acid metabolism; Abnormality of the ear; Abnormality of the immune system; Abnormality of the pancreatic islet cells; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Coma; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Diarrhea; Downturned corners of mouth; Elevated hemoglobin A1c; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hypoglycemia; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Intellectual disability; Intrauterine growth retardation; Ketoacidosis; Ketonuria; Large for gestational age; Lethargy; Limb joint contracture; Long philtrum; Maternal diabetes; Maturity-onset diabetes of the young; Microalbuminuria; Microcephaly; Mild global developmental delay; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal hypoglycemia; Neonatal insulin-dependent diabetes mellitus; Pallor; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Progressive neurologic deterioration; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Tachycardia; Transient neonatal diabetes mellitus; Vitamin B1 deficiency; Vomiting; Weight loss
NONOXq13.1100%gene with protein product300084Aggressive behavior; Ataxia; Dental crowding; Frontal bossing; Generalized hypotonia; Hallux valgus; High, narrow palate; Increased head circumference; Intellectual disability; Joint laxity; Kyphosis; Left ventricular noncompaction; Long face; Malar flattening; Mild global developmental delay; Motor delay; Myopia; Narrow mouth; Nasal speech; Neonatal hypotonia; Open mouth; Patent ductus arteriosus; Patent foramen ovale; Perseveration; Pes planus; Prominent nose; Right ventricular hypertrophy; Scoliosis; Seizures; Slender build; Strabismus; Thickened calvaria; Tremor; Upslanted palpebral fissure; Ventricular septal defect; X-linked recessive inheritance
NSMCE315q13.1100%gene with protein product608243NDNL2Abnormality of the thymus; Autosomal recessive inheritance; Bronchiolitis obliterans; Eczema; Emphysema; Failure to thrive; Feeding difficulties; Mild global developmental delay; Muscular hypotonia of the trunk; Wide anterior fontanel
PCNT21q22.3100%gene with protein product605925PCNT2Abnormality of dental enamel; Abnormality of epiphysis morphology; Abnormality of female external genitalia; Abnormality of the metaphysis; Absent earlobe; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines; Autosomal recessive inheritance; Brachydactyly; Cachexia; Cafe-au-lait spot; Clinodactyly of the 5th finger; Cognitive impairment; Cone-shaped epiphysis; Convex nasal ridge; Coxa vara; Craniosynostosis; Delayed skeletal maturation; Dilatation of the cerebral artery; Disproportionate short stature; Downslanted palpebral fissures; Dry skin; Fine hair; Flared metaphysis; Full cheeks; Glaucoma; Global developmental delay; High pitched voice; Hip dysplasia; Hypermetropia; Hypopigmented skin patches; Hypoplasia of dental enamel; Hypoplastic iliac wing; Hypospadias; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Low-set ears; Microcephaly; Microdontia; Micrognathia; Micromelia; Microtia; Mild global developmental delay; Moyamoya phenomenon; Multiple cafe-au-lait spots; Narrow face; Narrow pelvis bone; Nasal speech; Postnatal growth retardation; Precocious puberty; Prematurely aged appearance; Prominent nasal bridge; Prominent nose; Proximal femoral epiphysiolysis; Pseudoepiphyses of the metacarpals; Radial bowing; Reduced number of teeth; Retrognathia; Sandal gap; Scoliosis; Sensorineural hearing impairment; Short 1st metacarpal; Short distal phalanx of finger; Short stature; Slender long bone; Sloping forehead; Sparse scalp hair; Tibial bowing; Truncal obesity; Type II diabetes mellitus; Ulnar bowing; Underdeveloped nasal alae; Upslanted palpebral fissure; Wide nasal bridgeObesity
PLK44q28.199.88%gene with protein product605031STK18Abnormality of dental enamel; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the eyelashes; Absent earlobe; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Autosomal recessive inheritance; Biparietal narrowing; Cachexia; Cataract; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Cognitive impairment; Cone-shaped epiphysis; Congenital onset; Convex nasal ridge; Cortical gyral simplification; Craniosynostosis; Delayed skeletal maturation; Downslanted palpebral fissures; Glaucoma; Global developmental delay; Hip dysplasia; Hypertonia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Mild global developmental delay; Narrow face; Nystagmus; Optic atrophy; Pointed chin; Prematurely aged appearance; Protruding ear; Reduced number of teeth; Sandal gap; Scoliosis; Seizures; Short stature; Sloping forehead; Sparse scalp hair; Strabismus; Visual impairment; Wide nasal bridge
RBBP818q11.299.51%gene with protein product604124SCKL24-5 toe syndactyly; Abnormality of dental enamel; Absent earlobe; Absent fourth finger distal interphalangeal crease; Aggressive behavior; Autosomal recessive inheritance; Cachexia; Cerebellar hypoplasia; Clinodactyly of the 5th finger; Cognitive impairment; Cone-shaped epiphysis; Congenital microcephaly; Convex nasal ridge; Craniosynostosis; Delayed skeletal maturation; Downslanted palpebral fissures; Few cafe-au-lait spots; Glaucoma; Growth delay; Hallux valgus; Heart murmur; Hip dysplasia; Hypospadias; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Microcephaly; Microdontia; Microglossia; Micrognathia; Microphthalmia; Mild global developmental delay; Narrow face; Narrow forehead; Prematurely aged appearance; Prominent nose; Reduced number of teeth; Retrognathia; Sandal gap; Short middle phalanx of the 5th finger; Short stature; Single interphalangeal crease of fifth finger; Small for gestational age; Sparse scalp hair; Thoracic scoliosis
RBBP818q11.299.51%gene with protein product604124SCKL24-5 toe syndactyly; Abnormality of dental enamel; Absent earlobe; Absent fourth finger distal interphalangeal crease; Aggressive behavior; Autosomal recessive inheritance; Cachexia; Cerebellar hypoplasia; Clinodactyly of the 5th finger; Cognitive impairment; Cone-shaped epiphysis; Congenital microcephaly; Convex nasal ridge; Craniosynostosis; Delayed skeletal maturation; Downslanted palpebral fissures; Few cafe-au-lait spots; Glaucoma; Growth delay; Hallux valgus; Heart murmur; Hip dysplasia; Hypospadias; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Microcephaly; Microdontia; Microglossia; Micrognathia; Microphthalmia; Mild global developmental delay; Narrow face; Narrow forehead; Prematurely aged appearance; Prominent nose; Reduced number of teeth; Retrognathia; Sandal gap; Short middle phalanx of the 5th finger; Short stature; Single interphalangeal crease of fifth finger; Small for gestational age; Sparse scalp hair; Thoracic scoliosis
RNF1683q29100%gene with protein product612688Abnormal facial shape; Ataxia; Autosomal recessive inheritance; Dry skin; IgG deficiency; Immunodeficiency; Increased sensitivity to ionizing radiation; Mild global developmental delay; Short stature
TBX417q23.2100%gene with protein product601719Abnormality of epiphysis morphology; Aplasia/Hypoplasia of the patella; Autosomal dominant inheritance; Cleft palate; Coxa vara; Delayed speech and language development; Flat capital femoral epiphysis; Frontal bossing; High palate; Hip dysplasia; Hypoplasia of the lesser trochanter; Intrauterine growth retardation; Long fingers; Long toe; Microcephaly; Micrognathia; Mild global developmental delay; Moderate global developmental delay; Patellar aplasia; Patellar dislocation; Patellar hypoplasia; Patent ductus arteriosus; Pes planus; Pulmonary arterial hypertension; Sandal gap; Short femur; Short stature; Talipes equinovarus; Talocalcaneal synostosis; Tarsal synostosis; Wide capital femoral epiphyses
TRAIP3p21.31100%gene with protein product605958Abnormality of dental enamel; Absent earlobe; Ambiguous genitalia; Atrial septal defect; Autosomal recessive inheritance; Cachexia; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cognitive impairment; Cone-shaped epiphysis; Congenital diaphragmatic hernia; Convex nasal ridge; Craniosynostosis; Decreased fetal movement; Delayed skeletal maturation; Downslanted palpebral fissures; Glaucoma; Hip dysplasia; Hypertrichosis; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Polyhydramnios; Prematurely aged appearance; Recurrent urinary tract infections; Reduced number of teeth; Sandal gap; Short stature; Small for gestational age; Sparse scalp hair; Talipes equinovarus; Ventricular septal defect


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