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
Abnormal macular morphology

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
DPM120q13.1399.94%gene with protein product603503Abnormal macular morphology; Abnormality of vision; Ankle contracture; Ataxia; Autosomal recessive inheritance; Camptodactyly; Cortical visual impairment; Depressed nasal bridge; Downslanted palpebral fissures; EEG abnormality; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Failure to thrive; Flat occiput; Generalized hypotonia; Hemangioma; Hepatomegaly; High, narrow palate; Hypertelorism; Infantile onset; Knee flexion contracture; Lower limb hyperreflexia; Microcephaly; Micrognathia; Muscular dystrophy; Muscular hypotonia; Nail dysplasia; Nystagmus; Optic atrophy; Patent ductus arteriosus; Pontocerebellar atrophy; Postnatal microcephaly; Progressive; Prolonged partial thromboplastin time; Reduced antithrombin III activity; Reduced protein C activity; Reduced protein S activity; Respiratory distress; Retinopathy; Seizures; Severe global developmental delay; Short palm; Small hand; Smooth philtrum; Splenomegaly; Strabismus; Telangiectasia; Tremor; Type I transferrin isoform profile; Upper limb undergrowth; Variable expressivityRhabdomyolysis
EDN320q13.32100%gene with protein product131242Abdominal pain; Abnormal macular morphology; Abnormality of temperature regulation; Abnormality of the cardiovascular system; Abnormality of the mouth; Abnormality of vision; Aganglionic megacolon; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue irides; Central hypoventilation; Constipation; Downslanted palpebral fissures; Feeding difficulties; Ganglioneuroblastoma; Ganglioneuroma; Hearing impairment; Heterochromia iridis; Heterogeneous; Hyperhidrosis; Hypopigmented skin patches; Intestinal obstruction; Low-set ears; Nausea and vomiting; Olfactory lobe agenesis; Posteriorly rotated ears; Premature graying of hair; Prominent nasal bridge; Respiratory insufficiency; Sensorineural hearing impairment; Synophrys; Underdeveloped nasal alae; Weight loss; White eyebrow; White eyelashes; White forelock; Wide nasal bridgeWaardenburg Syndrome
EDNRB13q22.3100%gene with protein product131244HSCR2, HSCRAbdominal pain; Abnormal auditory evoked potentials; Abnormal macular morphology; Abnormality of vision; Aganglionic megacolon; Albinism; Ataxia; Autonomic dysregulation; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue irides; Constipation; Global developmental delay; Hearing impairment; Heterochromia iridis; Heterogeneous; Hypopigmentation of the fundus; Hypopigmented skin patches; Intestinal obstruction; Large for gestational age; Leukodystrophy; Muscular hypotonia; Nausea and vomiting; Nystagmus; Olfactory lobe agenesis; Polyneuropathy; Premature graying of hair; Prominent nasal bridge; Sensorineural hearing impairment; Spastic paraparesis; Synophrys; Underdeveloped nasal alae; Weight loss; White eyebrow; White eyelashes; White forelock; Wide nasal bridgeWaardenburg Syndrome
NDPXp11.3100%gene with protein product300658EVR2Abnormal chorioretinal morphology; Abnormal cochlea morphology; Abnormal macular morphology; Abnormality of the retinal vasculature; Aggressive behavior; Anterior chamber synechiae; Anxiety; Aplasia/Hypoplasia of the lens; Blindness; Cataract; Deeply set eye; Dementia; Erectile abnormalities; Exudative vitreoretinopathy; Falciform retinal fold; Glaucoma; Hallucinations; Hypoplasia of the iris; Hypotelorism; Intellectual disability, progressive; Intraretinal exudate; Irritability; Macrotia; Microphthalmia; Narrow nasal bridge; Neoplasm of the eye; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Peripheral vitreous opacities; Premature birth; Psychosis; Reduced visual acuity; Remnants of the hyaloid vascular system; Retinal detachment; Retinal dysplasia; Retinal fold; Sclerocornea; Seizures; Sensorineural hearing impairment; Shallow anterior chamber; Small for gestational age; Stereotypy; Strabismus; Subretinal exudate; Vascular neoplasm; Venous insufficiency; X-linked recessive inheritance
SMPD111p15.499.88%gene with protein product607608Abnormal macular morphology; Athetosis; Autosomal recessive inheritance; Bone-marrow foam cells; Cherry red spot of the macula; Constipation; Decreased circulating high-density lipoprotein levels; Diffuse reticular or finely nodular infiltrations; Dyspnea; Failure to thrive; Feeding difficulties in infancy; Foam cells with lamellar inclusion bodies; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hypertriglyceridemia; Hyporeflexia; Increased circulating low-density lipoprotein levels; Infantile onset; Intellectual disability; Juvenile onset; Lymphadenopathy; Microcytic anemia; Muscle weakness; Osteoporosis; Phenotypic variability; Prolonged neonatal jaundice; Protuberant abdomen; Recurrent respiratory infections; Rigidity; Sea-blue histiocytosis; Short stature; Spasticity; Splenomegaly; Vomiting; Xanthomatosis
SOX1022q13.199.98%gene with protein product602229Abdominal pain; Abnormal eyebrow morphology; Abnormal macular morphology; Abnormal pyramidal signs; Abnormality of the voice; Abnormality of vision; Absent brainstem auditory responses; Aganglionic megacolon; Alacrima; Anosmia; Anterior hypopituitarism; Aplasia of the semicircular canal; Areflexia; Ataxia; Autonomic dysregulation; Autosomal dominant inheritance; Blue irides; Breast hypoplasia; Cafe-au-lait spot; Cerebral dysmyelination; Cerebral hypomyelination; Constipation; Cryptorchidism; Decreased fertility; Decreased lacrimation; Decreased nerve conduction velocity; Decreased testicular size; Delayed puberty; Demyelinating peripheral neuropathy; Dilated vestibule of the inner ear; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysmyelinating leukodystrophy; Erectile abnormalities; Global developmental delay; Hearing impairment; Heterochromia iridis; Heterogeneous; Hypertonia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypopigmentation of hair; Hypopigmentation of the fundus; Hypopigmented skin patches; Hypoplasia of the iris; Hypoplasia of the semicircular canal; Hyporeflexia; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Ileus; Intellectual disability; Intestinal obstruction; Long-segment aganglionic megacolon; Microcolon; Micropenis; Muscular hypotonia; Muscular hypotonia of the trunk; Myelin outfoldings; Neonatal hypotonia; Nystagmus; Olfactory lobe agenesis; Pectus excavatum; Peripheral demyelination; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Phenotypic variability; Premature graying of hair; Prominent nasal bridge; Reduced bone mineral density; Seizures; Sensorineural hearing impairment; Spastic paraparesis; Spastic tetraplegia; Spasticity; Synophrys; Telecanthus; Underdeveloped nasal alae; White eyebrow; White eyelashes; White forelock; Wide nasal bridgeWaardenburg Syndrome


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