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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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

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Phenotypes
Subcutaneous hemorrhage

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
COL1A27q21.399.62%gene with protein product120160OI4Abnormality of pelvic girdle bone morphology; Abnormality of the nervous system; Abnormality of the thorax; Absent ossification of calvaria; Aortic regurgitation; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Basilar impression; Beaded ribs; Biconcave flattened vertebrae; Biconcave vertebral bodies; Blue sclerae; Bowing of limbs due to multiple fractures; Breech presentation; Broad long bones; Bruising susceptibility; Calcaneovalgus deformity; Congenital bilateral hip dislocation; Congestive heart failure; Convex nasal ridge; Crumpled long bones; Decreased calvarial ossification; Delayed gross motor development; Dentinogenesis imperfecta; Disproportionate short-limb short stature; Excessive wrinkled skin; Femoral bowing present at birth, straightening with time; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Hearing impairment; Hernia; Hyperextensible skin; Increased susceptibility to fractures; Inguinal hernia; Joint hyperflexibility; Joint laxity; Kyphosis; Large fontanelles; Malar flattening; Micrognathia; Midface retrusion; Mild short stature; Mitral regurgitation; Mitral valve prolapse; Multiple prenatal fractures; Muscle weakness; Neonatal short-limb short stature; Nonimmune hydrops fetalis; Osteopenia; Otosclerosis; Pectus excavatum; Pes planus; Platybasia; Platyspondyly; Poor wound healing; Premature birth; Premature osteoarthritis; Protrusio acetabuli; Pulmonary arterial hypertension; Pulmonary insufficiency; Recurrent fractures; Reduced bone mineral density; Respiratory insufficiency; Scoliosis; Severe generalized osteoporosis; Short stature; Slender long bone; Small for gestational age; Soft skin; Subcutaneous hemorrhage; Thin skin; Tibial bowing; Triangular face; Wide anterior fontanel; Wormian bones
KRT1417q21.2100%gene with protein product148066EBS3, EBS4Abnormal blistering of the skin; Abnormal pattern of respiration; Abnormality of dental enamel; Abnormality of the conjunctiva; Abnormality of the nail; Adermatoglyphia; Alopecia of scalp; Anemia; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Carious teeth; Congenital onset; Dermal atrophy; Diffuse palmoplantar keratoderma; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Fragile nails; Generalized hyperkeratosis; Growth delay; Heat intolerance; Hyperhidrosis; Hypohidrosis; Hypohidrosis or hyperhidrosis; Hypopigmented skin patches; Hypoplasia of dental enamel; Milia; Nail dysplasia; Nail dystrophy; Neonatal onset; Ophthalmoparesis; Oral leukoplakia; Palmoplantar blistering; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Premature loss of teeth; Prematurely aged appearance; Ptosis; Recurrent skin infections; Reticular hyperpigmentation; Reticulate pigmentation of oral mucosa; Reticulated skin pigmentation; Ridged nail; Skin vesicle; Subcutaneous hemorrhage; Thick nail; Variable expressivityEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
KRT512q13.13100%gene with protein product148040EBS2Abnormal blistering of the skin; Abnormal pattern of respiration; Abnormality of dental enamel; Abnormality of skin pigmentation; Abnormality of the nail; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Congenital onset; Dermal atrophy; Discrete 2 to 5-mm hyper- and hypopigmented macules; Erythema; Generalized hyperkeratosis; Growth delay; Hyperhidrosis; Hypopigmented skin patches; Milia; Mottled pigmentation of the trunk and proximal extremities; Nail dysplasia; Nail dystrophy; Neonatal onset; Ophthalmoparesis; Oral leukoplakia; Palmoplantar blistering; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Prematurely aged appearance; Progressive reticulate hyperpigmentation; Ptosis; Punctate palmoplantar hyperkeratosis; Recurrent skin infections; Reticulated skin pigmentation; Ridged nail; Skin rash; Skin vesicle; Subcutaneous hemorrhage; Thick nail; Variable expressivityPalmoplantar keratoderma plus congenital ichthyosis
PDGFB22q13.1100%gene with protein product190040SISAbnormality of neuronal migration; Adult onset; Anxiety; Apathy; Athetosis; Autosomal dominant inheritance; Basal ganglia calcification; Bradykinesia; Calcification of the small brain vessels; Cerebral calcification; Chorea; Corneal opacity; Dementia; Dense calcifications in the cerebellar dentate nucleus; Depressivity; Dysarthria; Dysdiadochokinesis; Dyskinesia; Dystonia; Erythema; Fibrosarcoma; Gait disturbance; Hepatomegaly; Hyperreflexia; Incomplete penetrance; Intrauterine growth retardation; Limb dysmetria; Mask-like facies; Memory impairment; Meningioma; Mental deterioration; Microcephaly; Migraine; Motor tics; Neoplasm of the skin; Parkinsonism; Postural instability; Progressive; Psychosis; Rigidity; Seizures; Skin ulcer; Subcutaneous hemorrhage; Subcutaneous nodule; Thickened skin; Thrombocytopenia; Tremor; Urinary incontinence; Ventriculomegaly; Vertigo
PDGFRB5q3299.97%gene with protein product173410PDGFRAbnormality of connective tissue; Abnormality of neuronal migration; Abnormality of the hair; Abnormality of the metaphysis; Abnormality of the musculature; Abnormality of the skull; Abnormality of the thorax; Adult onset; Athetosis; Autosomal dominant inheritance; Basal ganglia calcification; Bone cyst; Brachydactyly; Bradykinesia; Calcification of the small brain vessels; Cerebral calcification; Chondrocalcinosis; Chorea; Corneal opacity; Delayed cranial suture closure; Delayed eruption of teeth; Delayed skeletal maturation; Dense calcifications in the cerebellar dentate nucleus; Depressivity; Downslanted palpebral fissures; Dysarthria; Dysdiadochokinesis; Dystonia; Eosinophilia; Fibroma; Fragile skin; Gait disturbance; Gingival fibromatosis; Growth abnormality; Hepatomegaly; Hyperextensible skin; Hyperkeratosis; Hypermetropia; Hyperreflexia; Hypoplasia of the maxilla; Increased thyroid-stimulating hormone level; Intrauterine growth retardation; Limb dysmetria; Lipoatrophy; Long foot; Malignant eosinophil proliferation; Mask-like facies; Memory impairment; Mental deterioration; Microcephaly; Micrognathia; Midface retrusion; Myeloproliferative disorder; Narrow nose; Neoplasm of the lung; Neoplasm of the skin; Osteolytic defects of the phalanges of the hand; Osteopenia; Overgrowth; Parkinsonism; Pointed chin; Postural instability; Progressive; Progressive neurologic deterioration; Prominent forehead; Prominent nasal bridge; Prominent supraorbital ridges; Proptosis; Psychosis; Ptosis; Rigidity; Seizures; Sensorineural hearing impairment; Slender long bone; Sparse hair; Subcutaneous hemorrhage; Subcutaneous nodule; Thin calvarium; Thin skin; Thin upper lip vermilion; Thin vermilion border; Thoracolumbar scoliosis; Thrombocytopenia; Tremor; Urinary incontinence; Ventriculomegaly; Wide nasal bridge
PLOD11p36.2299.99%gene with protein product153454LLH, PLODAbnormality of metabolism/homeostasis; Abnormality of the hip bone; Aortic dissection; Arachnodactyly; Arterial dissection; Arterial rupture; Atypical scarring of skin; Autosomal recessive inheritance; Bladder diverticulum; Blindness; Blue sclerae; Bruising susceptibility; Congestive heart failure; Decreased fetal movement; Decreased pulmonary function; Dental crowding; Depressed nasal bridge; Disproportionate tall stature; Epicanthus; Gait disturbance; Gastrointestinal hemorrhage; Generalized hypotonia; Generalized joint laxity; Glaucoma; Hyperextensible skin; Inguinal hernia; Joint dislocation; Joint hyperflexibility; Joint laxity; Keratoconus; Kyphosis; Microcornea; Mitral valve prolapse; Molluscoid pseudotumors; Motor delay; Myopia; Neonatal hypotonia; Osteoporosis; Palmoplantar cutis laxa; Pes planus; Premature rupture of membranes; Progressive congenital scoliosis; Recurrent pneumonia; Respiratory insufficiency; Retinal detachment; Retinopathy; Scoliosis; Soft skin; Spontaneous rupture of the globe; Subcutaneous hemorrhage; Talipes equinovarus; Tall stature; Thin skin; Visual impairment
PTEN10q23.3199.95%gene with protein productPromoter/regulatory variants are not captured by XomeDxSlice. 601728BZS, MHAMAbnormal form of the vertebral bodies; Abnormal heart morphology; Abnormal lung lobation; Abnormal pupil morphology; Abnormal subcutaneous fat tissue distribution; Abnormal vertebral morphology; Abnormality of metabolism/homeostasis; Abnormality of the eye; Abnormality of the fallopian tube; Abnormality of the large intestine; Abnormality of the parathyroid gland; Abnormality of the penis; Abnormality of the vasculature; Abnormally prominent line of Schwalbe; Absent thumb; Acanthosis nigricans; Acrokeratosis; Adenoma sebaceum; Adult onset; Amblyopia; Anal atresia; Angioid streaks of the fundus; Angiokeratoma; Aqueductal stenosis; Arteriovenous malformation; Asymmetry of the thorax; Ataxia; Atypical nevi in non-sun exposed areas; Atypical nevus; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Birth length greater than 97th percentile; Breast carcinoma; Broad forehead; Bronchogenic cyst; Cachexia; Cafe-au-lait spot; Calvarial hyperostosis; Capillary hemangiomas; Cataract; Cavernous hemangioma; Cognitive impairment; Colonic diverticula; Colorectal polyposis; Communicating hydrocephalus; Conjunctival hamartoma; Cranial nerve paralysis; Cutaneous melanoma; Decreased muscle mass; Delayed gross motor development; Delayed speech and language development; Depressed nasal bridge; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dysplastic gangliocytoma of the cerebellum; Endometrial carcinoma; Enlarged cerebellum; Epibulbar dermoid; Epidermal nevus; Excessive wrinkled skin; Exostoses; Fibroadenoma of the breast; Finger syndactyly; Follicular thyroid carcinoma; Frontal bossing; Furrowed tongue; Generalized hyperkeratosis; Generalized hypotonia; Genu recurvatum; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hand polydactyly; Hashimoto thyroiditis; Headache; Hearing impairment; Hemangioma; Hematochezia; Heterochromia iridis; High palate; Hydrocele testis; Hydrocephalus; Hyperostosis; Hypertelorism; Hyperthyroidism; Hypoglycemia; Hypoplasia of the maxilla; Hypothyroidism; Increased intracranial pressure; Intellectual disability; Intellectual disability, mild; Intention tremor; Intestinal polyposis; Intraocular melanoma; Intussusception; Irregular hyperpigmentation; Joint hypermobility; Juvenile onset; Kyphosis; Lipoma; Long penis; Long philtrum; Lower limb asymmetry; Lymphangioma; Lymphedema; Macrocephaly; Macrodactyly; Macroglossia; Macrotia; Macule; Mandibular prognathia; Melanocytic nevus; Meningioma; Micrognathia; Mucosal telangiectasiae; Multiple cafe-au-lait spots; Multiple lipomas; Myopathy; Myopia; Narrow mouth; Nausea and vomiting; Neoplasm of the breast; Neoplasm of the thyroid gland; Nevus; Non-medullary thyroid carcinoma; Numerous nevi; Obesity; Open bite; Ovarian carcinoma; Ovarian cyst; Ovarian neoplasm; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Polymicrogyria; Postnatal growth retardation; Postnatal macrocephaly; Primary peritoneal carcinoma; Progressive macrocephaly; Pseudopapilledema; Pulmonary embolism; Radial club hand; Reduced bone mineral density; Renal hypoplasia; Respiratory failure; Retinal detachment; Round face; Scoliosis; Seizures; Shagreen patch; Short nose; Short stature; Skeletal dysplasia; Skin tags; Squamous cell carcinoma; Stillbirth; Strabismus; Subcutaneous hemorrhage; Subcutaneous lipoma; Subcutaneous nodule; Supernumerary nipple; Thick corpus callosum; Thrombophlebitis; Thyroid adenoma; Thyroiditis; Transitional cell carcinoma of the bladder; Trichilemmoma; Upper limb asymmetry; Varicocele; Vascular skin abnormality; Venous insufficiency; Visceral angiomatosisInflammatory Bowel Disease ; Obesity; VACTERL Association
SLC20A28p11.21100%gene with protein product158378MLVAR, GLVR2Abnormality of neuronal migration; Adult onset; Athetosis; Autosomal dominant inheritance; Basal ganglia calcification; Bradykinesia; Calcification of the small brain vessels; Cerebral calcification; Chorea; Corneal opacity; Dense calcifications in the cerebellar dentate nucleus; Depressivity; Dysarthria; Dysdiadochokinesis; Dystonia; Gait disturbance; Hepatomegaly; Hyperreflexia; Intrauterine growth retardation; Limb dysmetria; Mask-like facies; Memory impairment; Mental deterioration; Microcephaly; Parkinsonism; Postural instability; Progressive; Psychosis; Rigidity; Seizures; Subcutaneous hemorrhage; Thrombocytopenia; Tremor; Urinary incontinence; Ventriculomegaly
SLC35A16q1599.56%gene with protein product605634Abnormal megakaryocyte morphology; Abnormal platelet granules; Autosomal recessive inheritance; Cellulitis; Giant platelets; Hypoxemia; Infantile onset; Neutropenia; Pneumonia; Prolonged bleeding time; Pulmonary hemorrhage; Recurrent bacterial infections; Respiratory distress; Subcutaneous hemorrhage; Thrombocytopenia
SLC35A16q1599.56%gene with protein product605634Abnormal megakaryocyte morphology; Abnormal platelet granules; Autosomal recessive inheritance; Cellulitis; Giant platelets; Hypoxemia; Infantile onset; Neutropenia; Pneumonia; Prolonged bleeding time; Pulmonary hemorrhage; Recurrent bacterial infections; Respiratory distress; Subcutaneous hemorrhage; Thrombocytopenia
XPR11q25.3100%gene with protein product605237Abnormality of neuronal migration; Adult onset; Autosomal dominant inheritance; Basal ganglia calcification; Cerebral calcification; Choreoathetosis; Corneal opacity; Dementia; Depressivity; Dysarthria; Hepatomegaly; Intrauterine growth retardation; Memory impairment; Microcephaly; Parkinsonism; Progressive; Seizures; Subcutaneous hemorrhage; Thrombocytopenia; Ventriculomegaly


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