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
Retinal hemorrhage

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCC616p13.1193.19%gene with protein product603234ARA, PXEAbnormality of the cerebral vasculature; Abnormality of the mouth; Abnormality of the sternum; Accelerated atherosclerosis; Angina pectoris; Angioid streaks of the fundus; Arterial stenosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Bruising susceptibility; Calcification of falx cerebri; Cerebral hemorrhage; Civatte bodies; Congestive heart failure; Coronary artery calcification; Excessive wrinkled skin; Gastrointestinal hemorrhage; High palate; High, narrow palate; Hypermelanotic macule; Intermittent claudication; Kyphosis; Macular degeneration; Medial calcification of large arteries; Medial calcification of medium-sized arteries; Mitral stenosis; Mitral valve prolapse; Myopia; Premature occlusive vascular stenosis; Reduced visual acuity; Renal insufficiency; Restrictive cardiomyopathy; Retinal hemorrhage; Retinopathy; Scoliosis; Skin rash; Striae distensae; Stroke; Thickened nuchal skin fold; Visual impairment; Yellow papule
ABCC616p13.1193.19%gene with protein product603234ARA, PXEAbnormality of the cerebral vasculature; Abnormality of the mouth; Abnormality of the sternum; Accelerated atherosclerosis; Angina pectoris; Angioid streaks of the fundus; Arterial stenosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Bruising susceptibility; Calcification of falx cerebri; Cerebral hemorrhage; Civatte bodies; Congestive heart failure; Coronary artery calcification; Excessive wrinkled skin; Gastrointestinal hemorrhage; High palate; High, narrow palate; Hypermelanotic macule; Intermittent claudication; Kyphosis; Macular degeneration; Medial calcification of large arteries; Medial calcification of medium-sized arteries; Mitral stenosis; Mitral valve prolapse; Myopia; Premature occlusive vascular stenosis; Reduced visual acuity; Renal insufficiency; Restrictive cardiomyopathy; Retinal hemorrhage; Retinopathy; Scoliosis; Skin rash; Striae distensae; Stroke; Thickened nuchal skin fold; Visual impairment; Yellow papule
ABCC616p13.1193.19%gene with protein product603234ARA, PXEAbnormality of the cerebral vasculature; Abnormality of the mouth; Abnormality of the sternum; Accelerated atherosclerosis; Angina pectoris; Angioid streaks of the fundus; Arterial stenosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Bruising susceptibility; Calcification of falx cerebri; Cerebral hemorrhage; Civatte bodies; Congestive heart failure; Coronary artery calcification; Excessive wrinkled skin; Gastrointestinal hemorrhage; High palate; High, narrow palate; Hypermelanotic macule; Intermittent claudication; Kyphosis; Macular degeneration; Medial calcification of large arteries; Medial calcification of medium-sized arteries; Mitral stenosis; Mitral valve prolapse; Myopia; Premature occlusive vascular stenosis; Reduced visual acuity; Renal insufficiency; Restrictive cardiomyopathy; Retinal hemorrhage; Retinopathy; Scoliosis; Skin rash; Striae distensae; Stroke; Thickened nuchal skin fold; Visual impairment; Yellow papule
COL4A113q3499.99%gene with protein product120130Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal dominant inheritance; Babinski sign; Blurred vision; Cerebellar atrophy; Cerebellar hypoplasia; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Dilatation of the cerebral artery; Elevated serum creatine phosphokinase; Exotropia; Facial paralysis; Glaucoma; Global developmental delay; Hematuria; Hemiparesis; Hemiplegia; Hemolytic anemia; Hydrocephalus; Hypopigmentation of the fundus; Hypoplasia of penis; Hyporeflexia; Intellectual disability; Ischemic stroke; Leukoencephalopathy; Limb dystonia; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Migraine with aura; Multiple renal cysts; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Nephropathy; Optic atrophy; Pachygyria; Polymicrogyria; Porencephalic cyst; Posterior leukoencephalopathy; Raynaud phenomenon; Renal cyst; Renal insufficiency; Retinal arteriolar tortuosity; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Retinal hemorrhage; Retinal vascular tortuosity; Schizencephaly; Scotoma; Seizures; Skeletal muscle atrophy; Spasticity; Specific learning disability; Supraventricular arrhythmia; Tetraparesis; Variable expressivity; Visual field defect; Visual lossHemolytic Anemia ; Muscular dystropy-dystroglycanopathy (Walker-Warburg)
COL4A113q3499.99%gene with protein product120130Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal dominant inheritance; Babinski sign; Blurred vision; Cerebellar atrophy; Cerebellar hypoplasia; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Dilatation of the cerebral artery; Elevated serum creatine phosphokinase; Exotropia; Facial paralysis; Glaucoma; Global developmental delay; Hematuria; Hemiparesis; Hemiplegia; Hemolytic anemia; Hydrocephalus; Hypopigmentation of the fundus; Hypoplasia of penis; Hyporeflexia; Intellectual disability; Ischemic stroke; Leukoencephalopathy; Limb dystonia; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Migraine with aura; Multiple renal cysts; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Nephropathy; Optic atrophy; Pachygyria; Polymicrogyria; Porencephalic cyst; Posterior leukoencephalopathy; Raynaud phenomenon; Renal cyst; Renal insufficiency; Retinal arteriolar tortuosity; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Retinal hemorrhage; Retinal vascular tortuosity; Schizencephaly; Scotoma; Seizures; Skeletal muscle atrophy; Spasticity; Specific learning disability; Supraventricular arrhythmia; Tetraparesis; Variable expressivity; Visual field defect; Visual lossHemolytic Anemia ; Muscular dystropy-dystroglycanopathy (Walker-Warburg)
DNM219p13.2100%gene with protein product602378Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal degeneration; Centrally nucleated skeletal muscle fibers; Congenital contracture; Congenital onset; Death in infancy; Decreased fetal movement; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Easy fatigability; Elevated serum creatine phosphokinase; External ophthalmoplegia; Facial palsy; Flexion contracture; Generalized hypotonia; Heterogeneous; Hyporeflexia; Juvenile onset; Motor delay; Onion bulb formation; Pes cavus; Polyhydramnios; Proximal muscle weakness; Ptosis; Respiratory insufficiency; Retinal hemorrhage; Segmental peripheral demyelination/remyelination; Sleepy facial expression; Slow progression; Small for gestational age; Thin ribs
ENPP16q23.299.79%gene with protein product173335NPPS, M6S1, PDNP1Abnormal trabecular bone morphology; Abnormality of renal excretion; Abnormality of the cerebral vasculature; Abnormality of the sacroiliac joint; Angioid streaks of the fundus; Arterial stenosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Congestive heart failure; Coronary artery calcification; Coxa vara; Craniosynostosis; Delayed eruption of teeth; Distal femoral bowing; Elevated alkaline phosphatase of bone origin; Enlargement of the wrists; Enthesitis; Epidermal acanthosis; Excessive wrinkled skin; Generalized arterial calcification; Genu varum; Hypergranulosis; Hyperkeratosis; Hyperphosphaturia; Hypertension; Hypophosphatemic rickets; Increased bone mineral density; Low serum calcitriol; Lower limb asymmetry; Malabsorption; Myocardial infarction; Myopia; Osteomalacia; Polyarticular arthritis; Pseudo-fractures; Renal hypophosphatemia; Renal phosphate wasting; Retinal hemorrhage; Retinopathy; Rickets of the lower limbs; Sclerotic vertebral endplates; Sensorineural hearing impairment; Short stature; Skeletal dysplasia; Skin rash; Spinal canal stenosis; Striae distensae; Thickened nuchal skin fold; Tibial bowing; Tooth abscessPalmoplantar keratoderma plus congenital ichthyosis
IKBKGXq2825.01%gene with protein productLow coverage on XomeDxSlice due to pseudogene. Please see our test menu for analysis of IKBKG with alternate methods: http://www.genedx.com/test-catalog/disorders/incontinentia-pigmenti-ip/300248IP2, IP1, NEMOAbnormal blistering of the skin; Abnormal hand morphology; Abnormality of dental morphology; Abnormality of skin pigmentation; Alopecia; Asymmetric growth; Atrophic, patchy alopecia; Attention deficit hyperactivity disorder; Breast aplasia; Breast hypoplasia; Camptodactyly of finger; Cataract; Coarse hair; Conical incisor; Corneal opacity; Delayed eruption of teeth; Deviation of finger; Dry skin; Dysgammaglobulinemia; Ectodermal dysplasia; Eosinophilia; Erythema; Fine hair; Frontal bossing; Gait disturbance; Hearing abnormality; Hemivertebrae; Hyperhidrosis; Hyperkeratosis; Hypodontia; Hypopigmented skin patches; Hypoplasia of the fovea; Hypoplastic fingernail; Hypoplastic nipples; IgA deficiency; IgG deficiency; Immunodeficiency; Impaired memory B cell generation; Increased IgM level; Intellectual disability; Irregular hyperpigmentation; Keratitis; Kyphoscoliosis; Lymphedema; Microcephaly; Microphthalmia; Nail dysplasia; Nail dystrophy; Nail pits; Optic atrophy; Oral cleft; Osteolysis; Osteopetrosis; Recurrent bacterial infections; Recurrent infections; Recurrent mycobacterium avium complex infections; Recurrent streptococcus pneumoniae infections; Retinal detachment; Retinal hemorrhage; Retinal vascular proliferation; Ridged nail; Scarring; Scoliosis; Seizures; Short stature; Skin rash; Skin ulcer; Sparse hair; Spasticity; Strabismus; Supernumerary nipple; Supernumerary ribs; Telangiectasia of the skin; Thick nail; Uveitis; Verrucae; Visual impairment; X-linked dominant inheritance; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
TREX13p21.31100%gene with protein product606609AGS1Abnormality of extrapyramidal motor function; Abnormality of the periventricular white matter; Abnormality of the retinal vasculature; Acrocyanosis; Adult onset; Apraxia; Arrhinencephaly; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Behavioral abnormality; Central nervous system degeneration; Cerebral atrophy; Chilblain lesions; Chronic CSF lymphocytosis; Deep white matter hypodensities; Dementia; Dysarthria; Dystonia; Elevated erythrocyte sedimentation rate; Elevated hepatic transaminases; Eyelid coloboma; Feeding difficulties in infancy; Fever; Focal white matter lesions; Global developmental delay; Hematuria; Hemiparesis; Hemiplegia/hemiparesis; Hepatosplenomegaly; Increased CSF interferon alpha; Intellectual disability, profound; Juvenile onset; Leukodystrophy; Leukoencephalopathy; Limb pain; Lower limb hyperreflexia; Macular edema; Mental deterioration; Migraine; Morphological abnormality of the pyramidal tract; Multiple gastric polyps; Muscular hypotonia of the trunk; Nystagmus; Petechiae; Poor head control; Porencephalic cyst; Progressive; Progressive encephalopathy; Progressive forgetfulness; Progressive microcephaly; Progressive visual loss; Prolonged neonatal jaundice; Proteinuria; Punctate vasculitis skin lesions; Raynaud phenomenon; Retinal exudate; Retinal hemorrhage; Retinopathy; Seizures; Skin ulcer; Spasticity; Strabismus; Stroke; Telangiectasia; Thrombocytopenia; Vasculitis in the skin; Visual impairmentAutoimmune Disorders


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