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
Atopic dermatitis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
BRAF7q3499.88%gene with protein product164757Abnormal aortic valve morphology; Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal heart valve morphology; Abnormal hypothalamus morphology; Abnormal mitral valve morphology; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormal visual field test; Abnormality of coagulation; Abnormality of the pulmonary artery; Abnormality of the spleen; Abnormality of the ulna; Abnormality of vision; Absent eyebrow; Absent eyelashes; Alveolar cell carcinoma; Amegakaryocytic thrombocytopenia; Anterior creases of earlobe; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the eyebrow; Arrhythmia; Atopic dermatitis; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Bitemporal hemianopia; Brachydactyly; Brittle hair; Bronchogenic cyst; Bulbous nose; Bundle branch block; Cavernous hemangioma; Central adrenal insufficiency; Central diabetes insipidus; Cerebral calcification; Cerebral cortical atrophy; Clinodactyly; Clinodactyly of the 5th finger; Coarctation of aorta; Coarse facial features; Coarse hair; Cognitive impairment; Congenital onset; Constipation; Cryptorchidism; Cubitus valgus; Curly hair; Cystic hygroma; Decreased fertility; Deep palmar crease; Deep philtrum; Delayed skeletal maturation; Dental malocclusion; Depressed nasal bridge; Dolichocephaly; Downslanted palpebral fissures; Dry skin; Dysarthria; Dysphagia; Dystrophic fingernails; EEG abnormality; Enlarged pituitary gland; Enlarged thorax; Epicanthus; Excessive daytime somnolence; Excessive wrinkled skin; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Fine hair; Freckling; Frontal bossing; Full cheeks; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypotonia; Global developmental delay; Growth delay; Headache; Hearing impairment; Hepatomegaly; Heterogeneous; High forehead; High palate; High, narrow palate; Hydrocephalus; Hydronephrosis; Hyperextensibility of the finger joints; Hyperextensible skin; Hyperkeratosis; Hypertelorism; Hypertonia; Hypertrophic cardiomyopathy; Hypogonadotrophic hypogonadism; Hypomelanotic macule; Hypoplasia of the frontal lobes; Hypoplasia of the zygomatic bone; Ichthyosis; Intellectual disability; Intracranial cystic lesion; Intrauterine growth retardation; Joint hyperflexibility; Kyphoscoliosis; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Macrotia; Male infertility; Melanocytic nevus; Micrognathia; Midface retrusion; Mitral valve prolapse; Multiple cafe-au-lait spots; Multiple lentigines; Multiple palmar creases; Multiple plantar creases; Muscle weakness; Muscular hypotonia; Myopia; Narrow forehead; Nausea and vomiting; Neonatal hypotonia; Neoplasm of the anterior pituitary; Neurofibrosarcoma; Numerous nevi; Nystagmus; Obesity; Oculomotor apraxia; Open bite; Open mouth; Optic nerve dysplasia; Osteolysis; Osteopenia; Palmoplantar keratoderma; Papilledema; Papule; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pectus excavatum of inferior sternum; Pituitary hypothyroidism; Polyhydramnios; Poor suck; Posteriorly rotated ears; Postnatal growth retardation; Premature birth; Progressive visual field defects; Progressive visual loss; Prolactin excess; Prominent forehead; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonic stenosis; Radial deviation of finger; Reduced factor XII activity; Reduced factor XIII activity; Relative macrocephaly; Scapular winging; Scoliosis; Seizures; Sensorineural hearing impairment; Severe sensorineural hearing impairment; Shield chest; Short neck; Short nose; Short stature; Skin nodule; Slow decrease in visual acuity; Slow-growing hair; Sparse hair; Sparse or absent eyelashes; Splenomegaly; Sprengel anomaly; Strabismus; Submucous cleft hard palate; Superior pectus carinatum; Synovitis; Tetralogy of Fallot; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Tongue thrusting; Triangular face; Underdeveloped supraorbital ridges; Ventricular septal defect; Vomiting; Webbed neck; Wide intermamillary distance; Wide nasal bridge
DOCK89p24.3100%gene with protein product611432Asthma; Atopic dermatitis; Autosomal dominant inheritance; Autosomal recessive inheritance; B lymphocytopenia; Cerebral vasculitis; Chronic otitis media; Decrease in T cell count; Delayed speech and language development; Eczema; Eosinophilia; Global developmental delay; Hemiplegia; Increased IgE level; Infantile onset; Intellectual disability; Neoplasm; Onychomycosis; Pneumonia; Recurrent bacterial infections; Recurrent bacterial skin infections; Recurrent candida infections; Recurrent fungal infections; Recurrent sinopulmonary infections; Recurrent sinusitis; Recurrent viral infections; Severe viral infections; Skin ulcer; Subarachnoid hemorrhage; VerrucaeAutoimmune Disorders ; Ectodermal Dysplasia ; Inflammatory Bowel Disease
DOCK89p24.3100%gene with protein product611432Asthma; Atopic dermatitis; Autosomal dominant inheritance; Autosomal recessive inheritance; B lymphocytopenia; Cerebral vasculitis; Chronic otitis media; Decrease in T cell count; Delayed speech and language development; Eczema; Eosinophilia; Global developmental delay; Hemiplegia; Increased IgE level; Infantile onset; Intellectual disability; Neoplasm; Onychomycosis; Pneumonia; Recurrent bacterial infections; Recurrent bacterial skin infections; Recurrent candida infections; Recurrent fungal infections; Recurrent sinopulmonary infections; Recurrent sinusitis; Recurrent viral infections; Severe viral infections; Skin ulcer; Subarachnoid hemorrhage; VerrucaeAutoimmune Disorders ; Ectodermal Dysplasia ; Inflammatory Bowel Disease
HSPA95q31.299.99%gene with protein product600548HSPA9BAgenesis of corpus callosum; Atopic dermatitis; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Coronal cleft vertebrae; Dysplasia of the femoral head; Epiphyseal dysplasia; High palate; Highly arched eyebrow; Hypodontia; Midface retrusion; Oligohydramnios; Patent foramen ovale; Recurrent urinary tract infections; Renal hypoplasia; Severe short stature; Short neck; Short nose; Sideroblastic anemia; Sparse hair
IFIH12q24.299.95%gene with protein product606951Absent speech; Aortic arch calcification; Aortic valve calcification; Aortic valve stenosis; Arrhinencephaly; Atopic dermatitis; Autosomal dominant inheritance; Basal ganglia calcification; Broad forehead; Cardiomegaly; Carious teeth; Cerebral atrophy; Congestive heart failure; Coxa valga; Cutaneous photosensitivity; Decreased body weight; Dystonia; Expanded metacarpals with widened medullary cavities; Expanded metatarsals with widened medullary cavities; Expanded phalanges with widened medullary cavities; Eyelid coloboma; Feeding difficulties; Generalized hypotonia; Genu valgum; Glaucoma; Global developmental delay; Hemiplegia/hemiparesis; High anterior hairline; Hip dislocation; Hip subluxation; Hypoplasia of the maxilla; Hypoplasia of the tooth germ; Hypoplastic distal radial epiphyses; Incomplete penetrance; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Irritability; Mitral valve calcification; Muscle weakness; Muscular hypotonia of the trunk; Myopia; Onycholysis; Osteolytic defects of the phalanges of the hand; Osteoporosis; Pes cavus; Porencephalic cyst; Recurrent respiratory infections; Shallow acetabular fossae; Short stature; Smooth philtrum; Spastic tetraparesis; Spasticity; Subvalvular aortic stenosis; Talipes equinovarus; Tendon rupture; Unerupted tooth; Variable expressivity; Vasculitis; Waddling gaitAutoimmune Disorders
NEK914q24.3100%gene with protein product609798Adducted thumb; Arthrogryposis multiplex congenita; Asthma; Atopic dermatitis; Atrial septal defect; Autosomal recessive inheritance; Camptodactyly; Cardiomegaly; Comedo; Fetal akinesia sequence; Full cheeks; Hamartoma; High palate; Hydrops fetalis; Hypoplasia of the thymus; Intrauterine growth retardation; Long philtrum; Micrognathia; Narrow palate; Oligohydramnios; Overlapping fingers; Overlapping toe; Overriding aorta; Pulmonary hypoplasia; Pulmonic stenosis; Pyloric stenosis; Short neck; Somatic mutation; Stiff neck; Talipes equinovarus; Thoracic scoliosis; 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