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"

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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

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Phenotypes
Inflammatory abnormality of the eye

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
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
CTLA42q33.2100%gene with protein product123890CELIAC3, IDDM12Abdominal pain; Abnormal lymphocyte morphology; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Alopecia; Arthralgia; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Cerebral ischemia; Chest pain; Chronic obstructive pulmonary disease; Cough; Cutaneous T-cell lymphoma; Decreased antibody level in blood; Diarrhea; Dry skin; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Erythema; Erythroderma; Fatigue; Fever; Glomerulopathy; Granulomatosis; Hematuria; Hemoptysis; Hepatomegaly; Hypopigmented skin patches; Immunodeficiency; Incomplete penetrance; Inflammatory abnormality of the eye; Irregular hyperpigmentation; Lichenification; Lymphadenopathy; Nail dystrophy; Nausea and vomiting; Neoplasm of the skin; Palmoplantar keratoderma; Papule; Periorbital edema; Poikiloderma; Proteinuria; Pruritus; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Sinusitis; Skin plaque; Skin rash; Splenomegaly; Vasculitis; Weight lossAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
HLA-A6p22.199.89%gene with protein productXomeDxSlice is not appropriate.142800Abnormal chorioretinal morphology; Attenuation of retinal blood vessels; Blind-spot enlargment; Blurred vision; Cataract; Cystoid macular edema; Epiretinal membrane; Increased intraocular pressure; Inflammatory abnormality of the eye; Macular hole; Macular scar; Optic disc pallor; Photophobia; Photoreceptor layer loss on macular OCT; Retinal thinning; Visual loss; Vitreous floaters; Vitritis
HLA-B6p21.3399.17%gene with protein productXomeDxSlice is not appropriate.142830ASAbdominal pain; Abnormal aortic valve morphology; Abnormal blistering of the skin; Abnormal pattern of respiration; Abnormality of neutrophils; Acantholysis; Acne; Anemia; Anorexia; Arthralgia; Arthritis; Ascending tubular aorta aneurysm; Chest pain; Confusion; Diarrhea; Dysphagia; Erythema; Excessive salivation; Fatigue; Fever; Gait disturbance; Gangrene; Gastrointestinal hemorrhage; Hemiparesis; Hyperhidrosis; Hypertensive crisis; Hypertrophic cardiomyopathy; Immunologic hypersensitivity; Inflammatory abnormality of the eye; Macule; Meningitis; Migraine; Muscle weakness; Myalgia; Myocardial infarction; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Pulmonary arterial hypertension; Recurrent aphthous stomatitis; Seizures; Skin ulcer; Subcutaneous nodule; Vasculitis; Venous thrombosis; Weight loss
HLA-DPB16p21.3299.92%gene with protein productXomeDxSlice is not appropriate.142858HLA-DP1BAbdominal pain; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Arthralgia; Autoimmunity; Cerebral ischemia; Chest pain; Chronic obstructive pulmonary disease; Cough; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Fatigue; Fever; Glomerulopathy; Granulomatosis; Hematuria; Hemoptysis; Inflammatory abnormality of the eye; Nausea and vomiting; Papule; Periorbital edema; Proteinuria; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Sinusitis; Skin rash; Vasculitis; Weight loss
IL12B5q33.3100%gene with protein product161561NKSF2Abnormal aortic valve morphology; Abnormal pattern of respiration; Anemia; Anorexia; Arthritis; Ascending tubular aorta aneurysm; Autosomal recessive inheritance; Chest pain; Fatigue; Fever; Gangrene; Hyperhidrosis; Hypertensive crisis; Hypertrophic cardiomyopathy; Immunodeficiency; Inflammatory abnormality of the eye; Migraine; Muscle weakness; Myalgia; Myocardial infarction; Pulmonary arterial hypertension; Seizures; Skin ulcer; Subcutaneous nodule; Vasculitis; Weight loss
MLX17q21.1100%gene with protein product602976TCFL4Abnormal aortic valve morphology; Abnormal pattern of respiration; Anemia; Anorexia; Arthritis; Ascending tubular aorta aneurysm; Chest pain; Fatigue; Fever; Gangrene; Hyperhidrosis; Hypertensive crisis; Hypertrophic cardiomyopathy; Inflammatory abnormality of the eye; Migraine; Muscle weakness; Myalgia; Myocardial infarction; Pulmonary arterial hypertension; Seizures; Skin ulcer; Subcutaneous nodule; Vasculitis; Weight loss
PRTN319p13.3100%gene with protein product177020Abdominal pain; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Arthralgia; Autoimmunity; Cerebral ischemia; Chest pain; Chronic obstructive pulmonary disease; Cough; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Fatigue; Fever; Glomerulopathy; Granulomatosis; Hematuria; Hemoptysis; Inflammatory abnormality of the eye; Nausea and vomiting; Papule; Periorbital edema; Proteinuria; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Sinusitis; Skin rash; Vasculitis; Weight loss
PTPN221p13.299.15%gene with protein product600716PTPN8Abdominal pain; Abnormal eyebrow morphology; Abnormality of the eyelashes; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Alopecia; Anorexia; Antinuclear antibody positivity; Apraxia; Arthralgia; Arthritis; Autoimmunity; Cataract; Cerebral ischemia; Chest pain; Chewing difficulties; Chronic obstructive pulmonary disease; Cognitive impairment; Cough; Dental malocclusion; Depressivity; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Fatigue; Fever; Glaucoma; Glomerulopathy; Granulomatosis; Headache; Hematuria; Hemoptysis; Hypopigmented skin patches; Inflammatory abnormality of the eye; Iridocyclitis; Joint dislocation; Joint stiffness; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Nausea and vomiting; Ophthalmoparesis; Papule; Periorbital edema; Poliosis; Polyarticular arthritis; Premature graying of hair; Proteinuria; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Retinal detachment; Sensorineural hearing impairment; Short stature; Sinusitis; Skin rash; Sparse scalp hair; Vasculitis; Visual impairment; Vitiligo; Weight loss


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