XomeDxSlice Tool

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

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Situs inversus totalis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ARMC410p12.197.03%gene with protein product615408Autosomal recessive inheritance; Bronchiectasis; Chronic bronchitis; Ciliary dyskinesia; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Respiratory insufficiency due to defective ciliary clearance; Rhinitis; Sinusitis; Situs inversus totalisHeterotaxy
CCDC15119p13.2100%gene with protein product615956Asthma; Autosomal recessive inheritance; Bronchiectasis; Chronic bronchitis; Ciliary dyskinesia; Cough; Nasal obstruction; Nasal polyposis; Recurrent otitis media; Recurrent respiratory infections; Respiratory insufficiency due to defective ciliary clearance; Situs inversus totalisHeterotaxy
CFAP29821q22.1199.97%gene with protein product615494C21orf48, C21orf59Autosomal recessive inheritance; Bronchiectasis; Chronic bronchitis; Ciliary dyskinesia; Infertility; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Reduced sperm motility; Respiratory insufficiency due to defective ciliary clearance; Rhinitis; Sinusitis; Situs inversus totalisHeterotaxy
CFC12q21.129.83%gene with protein productXomeDxSlice is not appropriate.605194HTX2Abdominal situs inversus; Abnormality of metabolism/homeostasis; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Broad hallux; Coarctation of aorta; Complete atrioventricular canal defect; Double outlet right ventricle; Incomplete penetrance; Intestinal malrotation; Left atrial isomerism; Mesocardia; Polysplenia; Postaxial polydactyly; Pyloric stenosis; Situs inversus totalis; Transposition of the great arteries; Truncus arteriosus
DNAAF116q24.1100%gene with protein product613190LRRC50Absent inner dynein arms; Absent outer dynein arms; Autosomal recessive inheritance; Bronchiectasis; Ciliary dyskinesia; Infertility; Recurrent bronchitis; Recurrent otitis media; Recurrent respiratory infections; Sinusitis; Situs inversus totalisHeterotaxy
DNAAF214q21.3100%gene with protein product612517C14orf104Abnormal respiratory motile cilium morphology; Autosomal recessive inheritance; Chronic otitis media; Chronic sinusitis; Ciliary dyskinesia; Recurrent respiratory infections; Recurrent sinusitis; Situs inversus totalisHeterotaxy
DNAAF319q13.42100%gene with protein product614566C19orf51, CILD2Absent inner and outer dynein arms; Autosomal recessive inheritance; Bronchiectasis; Ciliary dyskinesia; Congenital onset; Immotile cilia; Infertility; Nasal polyposis; Otitis media; Recurrent respiratory infections; Respiratory distress; Sinusitis; Situs inversus totalisHeterotaxy
DNAAF415q21.3100%gene with protein product608706DYX1C1Autosomal recessive inheritance; Bronchiectasis; Chronic obstructive pulmonary disease; Ciliary dyskinesia; Immotile cilia; Infantile onset; Infertility; Recurrent respiratory infections; Recurrent sinusitis; Sinusitis; Situs inversus totalisHeterotaxy
DNAAF57p22.399.92%gene with protein productFormer name = HEATR2614864HEATR2Abnormal ciliary motility; Absent outer dynein arms; Autosomal recessive inheritance; Chronic bronchitis; Ciliary dyskinesia; Infantile onset; Male infertility; Nonmotile sperm; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Respiratory insufficiency; Respiratory insufficiency due to defective ciliary clearance; Rhinitis; Situs inversus totalisHeterotaxy
DNAH55p15.299.99%gene with protein product603335Autosomal recessive inheritance; Ciliary dyskinesia; Recurrent respiratory infections; Situs inversus totalisHeterotaxy
DNAI19p13.3100%gene with protein product604366Abnormal cornea morphology; Abnormal respiratory motile cilium morphology; Absent frontal sinuses; Anosmia; Asplenia; Autosomal recessive inheritance; Bronchiectasis; Chronic otitis media; Chronic rhinitis; Chronic sinusitis; Ciliary dyskinesia; Communicating hydrocephalus; Conductive hearing impairment; Headache; Heterogeneous; Immotile cilia; Male infertility; Nasal polyposis; Pneumonia; Recurrent respiratory infections; Sinusitis; Situs inversus totalisHeterotaxy
DNAI217q25.1100%gene with protein product605483Autosomal recessive inheritance; Bronchiectasis; Chronic rhinitis; Ciliary dyskinesia; Male infertility; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Situs inversus totalisHeterotaxy
DNAL114q24.395.09%gene with protein product610062C14orf168Abnormal ciliary motility; Absent outer dynein arms; Autosomal recessive inheritance; Bronchiectasis; Chronic otitis media; Chronic rhinitis; Chronic sinusitis; Ciliary dyskinesia; Congenital onset; Recurrent respiratory infections; Situs inversus totalisHeterotaxy
DYNC2LI12p21100%gene with protein product617083Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cone-shaped epiphysis; Conical incisor; Cryptorchidism; Depressed nasal bridge; Downslanted palpebral fissures; Epicanthus; Epispadias; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Hepatomegaly; Horizontal ribs; Hypodontia; Hypoplastic toenails; Hypospadias; Intrauterine growth retardation; Low-set ears; Microdontia; Micromelia; Nail dysplasia; Narrow chest; Neonatal short-limb short stature; Polyhydramnios; Postaxial hand polydactyly; Respiratory insufficiency; Short distal phalanx of finger; Short foot; Short ribs; Short stature; Short thorax; Situs inversus totalis; Skeletal dysplasia; Splenomegaly; Strabismus; Ventricular septal defectHeterotaxy ; Short-Rib Thoracic Dysplasia
EVC4p16.299.83%gene with protein product604831Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the alveolar ridges; Abnormality of the antihelix; Abnormality of the fingernails; Acetabular spurs; Advanced eruption of teeth; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cleft upper lip; Clinodactyly of the 5th finger; Common atrium; Cone-shaped epiphyses of phalanges 2 to 5; Conical incisor; Conical tooth; Cryptorchidism; Dandy-Walker malformation; Delayed eruption of teeth; Ectodermal dysplasia; Epispadias; Facial cleft; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Horizontal ribs; Hypodontia; Hypoplastic iliac wing; Hypoplastic toenails; Hypospadias; Hypotelorism; Intrauterine growth retardation; Microdontia; Micromelia; Mild short stature; Nail dysplasia; Nail dystrophy; Narrow chest; Natal tooth; Neonatal short-limb short stature; Overlapping fingers; Pectus carinatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Prominent antihelix; Short distal phalanx of finger; Short long bone; Short palm; Short ribs; Short thorax; Single median maxillary incisor; Situs inversus totalis; Small hand; Small nail; Strabismus; Talipes equinovarus; Toenail dysplasia; Ventricular septal defectEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
EVC24p16.2100%gene with protein product607261Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the alveolar ridges; Abnormality of the antihelix; Abnormality of the fingernails; Acetabular spurs; Advanced eruption of teeth; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cleft upper lip; Clinodactyly of the 5th finger; Common atrium; Cone-shaped epiphyses of phalanges 2 to 5; Conical incisor; Conical tooth; Cryptorchidism; Dandy-Walker malformation; Delayed eruption of teeth; Ectodermal dysplasia; Epispadias; Facial cleft; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Horizontal ribs; Hypodontia; Hypoplastic iliac wing; Hypoplastic toenails; Hypospadias; Hypotelorism; Intrauterine growth retardation; Microdontia; Micromelia; Mild short stature; Nail dysplasia; Nail dystrophy; Narrow chest; Natal tooth; Neonatal short-limb short stature; Overlapping fingers; Pectus carinatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Prominent antihelix; Short distal phalanx of finger; Short long bone; Short palm; Short ribs; Short thorax; Single median maxillary incisor; Situs inversus totalis; Small hand; Small nail; Strabismus; Talipes equinovarus; Toenail dysplasia; Ventricular septal defectEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
GDF119p13.11100%gene with protein product602880Abnormal lung lobation; Abnormal nasal morphology; Abnormality of metabolism/homeostasis; Agenesis of corpus callosum; Anomalous pulmonary venous return; Asplenia; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Broad forehead; Broad hallux; Clinodactyly of the 5th finger; Coarctation of aorta; Common atrium; Complete atrioventricular canal defect; Cryptorchidism; Dolichocephaly; Double outlet right ventricle; Intrauterine growth retardation; Polysplenia; Postaxial polydactyly; Preauricular pit; Proptosis; Pulmonary artery atresia; Pulmonic stenosis; Right atrial isomerism; Situs inversus totalis; Tetralogy of Fallot; Thin vermilion border; Transposition of the great arteries; Truncus arteriosus; Underdeveloped supraorbital ridges; Ventricular septal defectHeterotaxy
GLI112q13.3100%gene with protein product165220GLIAbnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Capitate-hamate fusion; Conical incisor; Cryptorchidism; Epispadias; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Hypodontia; Hypoplastic toenails; Hypospadias; Intrauterine growth retardation; Microdontia; Micromelia; Nail dysplasia; Narrow chest; Neonatal short-limb short stature; Short distal phalanx of finger; Short thorax; Situs inversus totalis; Strabismus; Ventricular septal defectHeterotaxy
HES717p13.1100%gene with protein product608059Abnormal form of the vertebral bodies; Abnormality of immune system physiology; Abnormality of the intervertebral disk; Abnormality of the odontoid process; Autosomal recessive inheritance; Block vertebrae; Hemivertebrae; Intrauterine growth retardation; Kyphosis; Missing ribs; Myelomeningocele; Respiratory insufficiency; Restrictive deficit on pulmonary function testing; Rib fusion; Rib segmentation abnormalities; Scoliosis; Short neck; Short stature; Short thorax; Situs inversus totalis; Spina bifida occulta; Unilateral vertebral artery hypoplasia; Vertebral segmentation defectHeterotaxy
LRRC68q24.2298.29%gene with protein product614930Absent inner and outer dynein arms; Autosomal recessive inheritance; Bronchiectasis; Chronic bronchitis; Ciliary dyskinesia; Immotile cilia; Nasal polyposis; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Reduced sperm motility; Respiratory insufficiency due to defective ciliary clearance; Rhinitis; Situs inversus totalisHeterotaxy
MMP2110q26.299.97%gene with protein product608416Atrial septal defect; Atrioventricular canal defect; Autosomal recessive inheritance; Common atrium; Heterotaxy; Hypoplasia of right ventricle; Interrupted aortic arch; Interrupted inferior vena cava with azygous continuation; Intestinal malrotation; Polysplenia; Pulmonary artery atresia; Situs inversus totalis; Total anomalous pulmonary venous returnHeterotaxy
OTX214q22.3100%gene with protein product600037Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the cranial nerves; Absent nares; Agenesis of corpus callosum; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the breasts; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Cataract; Cleft palate; Coloboma; Cryptorchidism; Cyclopia; Decreased circulating ACTH level; Decreased testicular size; Depressed nasal ridge; Ectopic posterior pituitary; Fatigue; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; Holoprosencephaly; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypotension; Infertility; Joint laxity; Low-set, posteriorly rotated ears; Mandibular aplasia; Microcornea; Microglossia; Microphthalmia; Narrow internal auditory canal; Narrow mouth; Nystagmus; Osteopenia; Pituitary hypothyroidism; Polyhydramnios; Respiratory distress; Retinal dystrophy; Seizures; Septo-optic dysplasia; Short stature; Situs inversus totalis; Strabismus; Synotia; Visual impairmentHeterotaxy
PIH1D3Xq22.399.45%gene with protein product300933CXorf41Bronchiectasis; Infertility; Neonatal respiratory distress; Recurrent respiratory infections; Recurrent sinusitis; Situs inversus totalis; X-linked recessive inheritanceHeterotaxy
PQBP1Xp11.2399.83%gene with protein product300463RENS1, MRXS8, SHS, MRX55, MRX2, MRXS3Abnormality of the rib cage; Anal atresia; Anxiety; Arachnodactyly; Atrial septal defect; Blindness; Brachycephaly; Brittle hair; Bulbous nose; Camptodactyly; Cataract; Cerebral atrophy; Cleft palate; Clinodactyly of the 5th finger; Coloboma; Cupped ear; Death in infancy; Decreased testicular size; Dry hair; Epicanthus; Global developmental delay; Hearing impairment; High palate; Hypermetropia; Hyperreflexia; Hypospadias; Intellectual disability; Joint contracture of the hand; Long face; Macroglossia; Macrotia; Malar flattening; Mandibular prognathia; Microcephaly; Micrognathia; Nail dystrophy; Narrow face; Narrow foot; Narrow mouth; Nasal speech; Pectus excavatum; Pes cavus; Phimosis; Poor suck; Protruding ear; Scoliosis; Seizures; Short philtrum; Short stature; Situs inversus totalis; Sparse hair; Sparse lateral eyebrow; Spastic diplegia; Spasticity; Strabismus; Tetralogy of Fallot; Thin upper lip vermilion; Triangular face; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge; X-linked recessive inheritanceHeterotaxy
PRRX11q24.2100%gene with protein product167420PMX1Abnormality of the cranial nerves; Abnormality of the eye; Absent nares; Agenesis of corpus callosum; Aglossia; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Autosomal recessive inheritance; Cleft palate; Conductive hearing impairment; Cyclopia; Downslanted palpebral fissures; Holoprosencephaly; Hypoplasia of penis; Hypoplasia of the epiglottis; Laryngeal hypoplasia; Low-set, posteriorly rotated ears; Mandibular aplasia; Microglossia; Micrognathia; Narrow internal auditory canal; Narrow mouth; Phenotypic variability; Polyhydramnios; Respiratory distress; Situs inversus totalis; Synotia; TracheomalaciaHeterotaxy
PRRX11q24.2100%gene with protein product167420PMX1Abnormality of the cranial nerves; Abnormality of the eye; Absent nares; Agenesis of corpus callosum; Aglossia; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Autosomal recessive inheritance; Cleft palate; Conductive hearing impairment; Cyclopia; Downslanted palpebral fissures; Holoprosencephaly; Hypoplasia of penis; Hypoplasia of the epiglottis; Laryngeal hypoplasia; Low-set, posteriorly rotated ears; Mandibular aplasia; Microglossia; Micrognathia; Narrow internal auditory canal; Narrow mouth; Phenotypic variability; Polyhydramnios; Respiratory distress; Situs inversus totalis; Synotia; TracheomalaciaHeterotaxy
SPAG18q22.299.45%gene with protein product603395Autosomal recessive inheritance; Bronchiectasis; Chronic bronchitis; Ciliary dyskinesia; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Respiratory insufficiency due to defective ciliary clearance; Rhinitis; Sinusitis; Situs inversus totalisHeterotaxy
UBR115q15.299.61%gene with protein product605981Abnormal hair pattern; Abnormality of the nail; Abnormality of the vagina; Absent lacrimal punctum; Agenesis of permanent teeth; Alopecia; Anal atresia; Anasarca; Anemia; Anteriorly placed anus; Aplasia cutis congenita of scalp; Atrial septal defect; Autosomal recessive inheritance; Cafe-au-lait spot; Calvarial skull defect; Clinodactyly of the 5th finger; Clitoral hypertrophy; Colonic diverticula; Convex nasal ridge; Cryptorchidism; Death in childhood; Delayed eruption of teeth; Delayed skeletal maturation; Diabetes mellitus; Exocrine pancreatic insufficiency; Failure to thrive; Fair hair; Frontal upsweep of hair; Generalized hypotonia; Hydronephrosis; Hypocalcemia; Hypoplasia of the primary teeth; Hypoplastic nipples; Hypoproteinemia; Hypospadias; Hypothyroidism; Increased circulating very-low-density lipoprotein levels; Intellectual disability; Intrauterine growth retardation; Joint laxity; Lacrimation abnormality; Malabsorption; Microcephaly; Microdontia; Micropenis; Midline skin dimples over anterior/posterior fontanelles; Oligodontia; Rectovaginal fistula; Sensorineural hearing impairment; Septate vagina; Short nose; Short stature; Single transverse palmar crease; Situs inversus totalis; Small for gestational age; Sparse scalp hair; Strabismus; Underdeveloped nasal alae; Urethrovaginal fistula; Ventricular septal defectDisorders of Sex Development; Heterotaxy
ZMYND103p21.31100%gene with protein product607070Autosomal recessive inheritance; Bronchiectasis; Chronic bronchitis; Ciliary dyskinesia; Infertility; Nasal polyposis; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Reduced sperm motility; Respiratory insufficiency due to defective ciliary clearance; Rhinitis; Sinusitis; Situs inversus totalisHeterotaxy


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