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
Spastic diplegia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AASS7q31.3299.99%gene with protein product605113Abnormality of the genitourinary system; Anemia; Autosomal recessive inheritance; Cognitive impairment; Delayed speech and language development; Ectopia lentis; EEG abnormality; Histidinuria; Hyperactivity; Hyperlysinemia; Hyperlysinuria; Infantile onset; Intellectual disability; Intellectual disability, mild; Muscular hypotonia; Phenotypic variability; Seizures; Short attention span; Short stature; Spastic diplegia
ACP519p13.2100%gene with protein product171640Abnormal form of the vertebral bodies; Abnormality of epiphysis morphology; Abnormality of the metaphysis; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cellular immunodeficiency; Combined immunodeficiency; Decrease in T cell count; Delayed eruption of teeth; Hyperlordosis; Hypermelanotic macule; Hypopigmented skin patches on arms; Hypothyroidism; Immune dysregulation; Irregular vertebral endplates; Juvenile onset; Kyphoscoliosis; Kyphosis; Large iliac wings; Low-set ears; Lumbar hyperlordosis; Lymphadenopathy; Metaphyseal irregularity; Metaphyseal sclerosis; Micromelia; Narrow nose; Platyspondyly; Pneumonia; Progressive spastic quadriplegia; Purpura; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Restrictive ventilatory defect; Rheumatoid arthritis; Rhizomelia; Short stature; Spastic diplegia; Spondylometaphyseal dysplasia; Tubulointerstitial fibrosis; VitiligoAutoimmune Disorders
ADD310q25.1-q25.100%gene with protein product601568ADDLAbnormal pyramidal signs; Autosomal recessive inheritance; Cognitive impairment; Dysphagia; Exotropia; Global developmental delay; Infantile onset; Microcephaly; Nystagmus; Poor speech; Spastic diplegia; Spastic tetraplegia; Supranuclear gaze palsy; Variable expressivity
ALDH3A217p11.2100%gene with protein product609523SLS, ALDH10Abnormal pyramidal signs; Abnormality of retinal pigmentation; Autosomal recessive inheritance; CNS demyelination; Corneal erosion; Dry skin; Dysarthria; Erythema; Generalized hyperpigmentation; Hyperkeratosis; Hypoplasia of dental enamel; Ichthyosis; Inflammatory abnormality of the eye; Intellectual disability; Kyphosis; Macular degeneration; Myopia; Opacification of the corneal epithelium; Photophobia; Retinopathy; Seizures; Short stature; Skeletal dysplasia; Spastic diplegia; Spasticity; Thoracic kyphosisPalmoplantar keratoderma plus congenital ichthyosis
AP1S2Xp22.2100%gene with protein product300629MRX59, MRXS5, PGSAggressive behavior; Aplasia/Hypoplasia of the cerebellum; Autistic behavior; Cerebral calcification; Cerebral cortical atrophy; Coarse facial features; Cryptorchidism; Gait disturbance; Global developmental delay; High palate; Hydrocephalus; Inguinal hernia; Intellectual disability, moderate; Long face; Macrocephaly; Macrotia; Muscular hypotonia; Poor speech; Scoliosis; Short philtrum; Spastic diplegia; Strabismus; Ventriculomegaly
BCORXp11.4100%gene with protein product3004852-3 toe syndactyly; Abnormal cardiac septum morphology; Abnormal palmar dermatoglyphics; Abnormality of dental morphology; Abnormality of the pinna; Aganglionic megacolon; Agenesis of maxillary lateral incisor; Aggressive behavior; Anal atresia; Anophthalmia; Aortic valve stenosis; Asymmetry of the ears; Atrial septal defect; Bicuspid aortic valve; Bifid nasal tip; Bifid uvula; Blepharophimosis; Blindness; Broad nasal tip; Broad palm; Camptodactyly; Camptodactyly of finger; Cataract; Chorioretinal coloboma; Ciliary body coloboma; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Complete duplication of thumb phalanx; Congenital cataract; Cryptorchidism; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Down-sloping shoulders; Exotropia; External ear malformation; Finger syndactyly; Flexion contracture of the 2nd toe; Flexion contracture of the 4th toe; Fused teeth; Generalized hypotonia; Glaucoma; Growth delay; Hammertoe; Hearing impairment; High, narrow palate; Hydronephrosis; Hydroureter; Hypospadias; Increased number of teeth; Intellectual disability; Intellectual disability, mild; Iris coloboma; Joint contracture of the hand; Kyphoscoliosis; Laterally curved eyebrow; Long face; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Microcephaly; Microcornea; Microphthalmia; Misalignment of teeth; Mitral valve prolapse; Motor delay; Narrow chest; Narrow face; Oligodontia; Optic nerve coloboma; Oral cleft; Overfolded helix; Patent ductus arteriosus; Pectus excavatum; Persistence of primary teeth; Posteriorly rotated ears; Prominent nasal bridge; Ptosis; Pulmonic stenosis; Pyloric stenosis; Radial deviation of finger; Radioulnar synostosis; Rectal prolapse; Recurrent otitis media; Remnants of the hyaloid vascular system; Renal hypoplasia; Renal hypoplasia/aplasia; Seizures; Self-mutilation; Sensorineural hearing impairment; Septate vagina; Short clavicles; Short stature; Spastic diplegia; Submucous cleft hard palate; Syndactyly; Thick eyebrow; Ventricular septal defect; Visual loss; Webbed neck; X-linked dominant inheritance; X-linked inheritanceDisorders of Sex Development
CTNNB13p22.1100%gene with protein product116806CTNNBAbdominal pain; Abnormal hypothalamus morphology; Abnormal visual field test; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the abdominal wall; Abnormality of the musculature; Autosomal dominant inheritance; Autosomal recessive inheritance; Bitemporal hemianopia; Breast carcinoma; Central adrenal insufficiency; Central diabetes insipidus; Cerebral calcification; Desmoid tumors; Dysgerminoma; Elevated alpha-fetoprotein; Enlarged pituitary gland; Epigastric pain; Excessive daytime somnolence; Fatigue; Generalized hypotonia; Global developmental delay; Headache; Hepatic fibrosis; Hepatic necrosis; Hepatocellular carcinoma; Hepatomegaly; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Incomplete penetrance; Infantile onset; Intellectual disability; Intestinal polyposis; Intracranial cystic lesion; Long philtrum; Malabsorption; Medulloblastoma; Microcephaly; Micronodular cirrhosis; Myalgia; Nausea and vomiting; Neoplasm of the anterior pituitary; Neoplasm of the stomach; Neurological speech impairment; Obesity; Ovarian papillary adenocarcinoma; Papilledema; Pilomatrixoma; Pituitary hypothyroidism; Portal vein thrombosis; Progressive visual field defects; Prolactin excess; Renal cell carcinoma; Slow decrease in visual acuity; Somatic mutation; Spastic diplegia; Strabismus; Subacute progressive viral hepatitis; Subcutaneous nodule; Thin upper lip vermilion; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma; Vomiting
FTL19q13.33100%gene with protein product134790Abnormality of metabolism/homeostasis; Anarthria; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Blepharospasm; Bradykinesia; Cataract; Cavitation of the basal ganglia; Chorea; Choreoathetosis; Congenital nuclear cataract; Decreased serum ferritin; Dementia; Disinhibition; Dysarthria; Dysphagia; Dysphonia; Dystonia; Emotional lability; Gait disturbance; Hyperreflexia; Hypomimic face; Increased serum ferritin; Laryngeal dystonia; Mutism; Neurodegeneration; Optic atrophy; Orofacial dyskinesia; Parkinsonism; Phenotypic variability; Progressive; Retinal degeneration; Rigidity; Spastic diplegia; Spasticity; Tremor
GAD12q31.1100%gene with protein product605363GADAutosomal recessive inheritance; Babinski sign; Cerebral palsy; Flexion contracture; Global developmental delay; Heterogeneous; Hyperreflexia; Infantile onset; Intellectual disability; Microcephaly; Scoliosis; Seizures; Spastic diplegia; Spastic tetraplegia
GCDH19p13.13100%gene with protein product608801Abnormal facial shape; Abnormality of extrapyramidal motor function; Autosomal recessive inheritance; Choreoathetosis; Delayed myelination; Dilation of lateral ventricles; Dyskinesia; Dystonia; Encephalopathy; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Glutaric acidemia; Glutaric aciduria; Hepatomegaly; Hypoglycemia; Infantile encephalopathy; Irritability; Joint dislocation; Ketonuria; Ketosis; Large fontanelles; Macrocephaly; Metabolic acidosis; Muscular hypotonia; Opisthotonus; Prominent forehead; Rigidity; Spastic diplegia; Spasticity; Symmetrical progressive peripheral demyelination; Vomiting
GLRX514q32.13100%gene with protein product609588C14orf87Anemia; Anisocytosis; Autosomal recessive inheritance; Babinski sign; Conjugated hyperbilirubinemia; Decreased activity of the pyruvate dehydrogenase complex; Decreased mean corpuscular volume; Dysarthria; Elevated hepatic iron concentration; Elevated hepatic transaminases; Erythroid hyperplasia; Gait disturbance; Hepatomegaly; Hepatosplenomegaly; Heterogeneous; Hyperglycinemia; Hyperreflexia; Hypoplasia of the corpus callosum; Increased serum ferritin; Infantile onset; Jaundice; Leukodystrophy; Nystagmus; Optic atrophy; Seizures; Spastic ataxia; Spastic diplegia; Splenomegaly; Strabismus; Type II diabetes mellitus; Visual impairmentAplastic Anemia ; Bone Marrow Failure Syndromes
NAA10Xq2899.97%gene with protein product300013ARD1, ARD1AAbnormal palmar dermatoglyphics; Abnormality of dental morphology; Abnormality of the dentition; Abnormality of the nares; Abnormality of the pinna; Aganglionic megacolon; Agenesis of maxillary lateral incisor; Aggressive behavior; Anal atresia; Anophthalmia; Atrial septal defect; Bicuspid aortic valve; Blindness; Broad hallux; Camptodactyly; Camptodactyly of finger; Cerebral atrophy; Chorioretinal coloboma; Ciliary body coloboma; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Coarse facial features; Complete duplication of thumb phalanx; Congenital onset; Cryptorchidism; Deep philtrum; Delayed cranial suture closure; Dental crowding; Depressed nasal bridge; Down-sloping shoulders; Downslanted palpebral fissures; Epicanthus; Everted upper lip vermilion; External ear malformation; Facial wrinkling; Finger syndactyly; Generalized hypotonia; Glaucoma; Global developmental delay; Growth delay; Hearing impairment; High palate; High, narrow palate; Hydronephrosis; Hydroureter; Hypertonia; Hypospadias; Inguinal hernia; Intellectual disability; Iris coloboma; Joint contracture of the hand; Kyphoscoliosis; Long eyelashes; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrotia; Microcephaly; Microcornea; Microphthalmia; Microretrognathia; Minimal subcutaneous fat; Motor delay; Narrow chest; Optic nerve coloboma; Oral cleft; Overfolded helix; Pectus excavatum; Postnatal growth retardation; Prominent forehead; Proptosis; Ptosis; Pulmonary artery stenosis; Pyloric stenosis; Radial deviation of finger; Rectal prolapse; Recurrent infections; Recurrent otitis media; Redundant skin; Renal hypoplasia; Renal hypoplasia/aplasia; Seizures; Self-mutilation; Short clavicles; Short columella; Short stature; Sparse and thin eyebrow; Spastic diplegia; Stereotypy; Supraventricular tachycardia; Syndactyly; Thick upper lip vermilion; Thin upper lip vermilion; Torsade de pointes; Underdeveloped nasal alae; Variable expressivity; Ventricular extrasystoles; Ventricular septal defect; Ventricular tachycardia; Webbed neck; Wide nasal bridge; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
PNP14q11.2100%gene with protein product164050NPAbnormality of B cell physiology; Ataxia; Autoimmune hemolytic anemia; Autoimmune neutropenia; Autoimmune thrombocytopenia; Autosomal recessive inheritance; Behavioral abnormality; Cerebral vasculitis; Failure to thrive; Generalized hypotonia; Hypouricemia; Impaired T cell function; Intellectual disability; Lymph node hypoplasia; Lymphoma; Lymphopenia; Motor delay; Otitis media; Pneumonia; Recurrent bacterial infections; Recurrent lower respiratory tract infections; Recurrent opportunistic infections; Recurrent upper respiratory tract infections; Recurrent urinary tract infections; Recurrent viral infections; Sinusitis; Spastic diplegia; Splenomegaly; Tetraparesis; TremorAutoimmune Disorders ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency; Rhabdomyolysis
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
RAB3GAP12q21.399.8%gene with protein product602536Abnormal dermatoglyphics; Abnormal toenail morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of visual evoked potentials; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Brachycephaly; Cataract; Cerebellar hypoplasia; Cerebral atrophy; Cerebral cortical atrophy; Clitoral hypoplasia; Congenital cataract; Cortical visual impairment; Cryptorchidism; Deeply set eye; Delayed puberty; Depressed nasal bridge; Everted lower lip vermilion; External genital hypoplasia; Facial hypertrichosis; Failure to thrive; Feeding difficulties in infancy; Furrowed tongue; Generalized hirsutism; Generalized hypotonia; Global developmental delay; High palate; Hyperlordosis; Hyperreflexia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplastic labia minora; Hypotelorism; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphoscoliosis; Kyphosis; Lissencephaly; Low posterior hairline; Low-set, posteriorly rotated ears; Macrotia; Malar flattening; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Midface retrusion; Misalignment of teeth; Muscular hypotonia; Optic atrophy; Osteoporosis; Pachygyria; Prematurely aged appearance; Ptosis; Scoliosis; Short nose; Short philtrum; Short stature; Spastic diplegia; Spasticity; Ulnar deviation of finger; Wide nasal bridge
SIX614q23.1100%gene with protein product606326OPTX2Agenesis of corpus callosum; Anophthalmia; Anterior pituitary hypoplasia; Autosomal dominant inheritance; Autosomal recessive inheritance; Butterfly vertebrae; Cataract; Coloboma; Cryptorchidism; Esophageal atresia; Frontal bossing; Generalized hypotonia; Global developmental delay; Hemivertebrae; Horizontal nystagmus; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Hypospadias; Hypothalamic hamartoma; Microcephaly; Micropenis; Microphthalmia; Miosis; Missing ribs; Optic nerve hypoplasia; Patent ductus arteriosus; Postnatal growth retardation; Retinal dystrophy; Rib fusion; Sensorineural hearing impairment; Short stature; Spastic diplegia; Spastic tetraplegia; Specific learning disability; Supernumerary ribs; Ventricular septal defect; Vertebral fusion; Vertebral hypoplasia
SOX23q26.33100%gene with protein product184429Agenesis of corpus callosum; Anophthalmia; Anterior pituitary hypoplasia; Autosomal dominant inheritance; Butterfly vertebrae; Cleft palate; Coloboma; Cryptorchidism; Esophageal atresia; Frontal bossing; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemiplegia/hemiparesis; Hemivertebrae; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypospadias; Hypothalamic hamartoma; Microcephaly; Micropenis; Microphthalmia; Missing ribs; Nystagmus; Optic nerve hypoplasia; Patent ductus arteriosus; Postnatal growth retardation; Rib fusion; Seizures; Sensorineural hearing impairment; Septo-optic dysplasia; Short stature; Spastic diplegia; Spastic tetraplegia; Specific learning disability; Strabismus; Supernumerary ribs; Tracheoesophageal fistula; Ventricular septal defect; Vertebral fusion; Vertebral hypoplasia; Visual impairment; Visual lossDisorders 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-AlportAlport Syndrome
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-PKDPolycystic Kidney Disease
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome