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
Inverted nipples

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACOX117q25.1100%gene with protein product609751Abnormal electroretinogram; Abnormality of metabolism/homeostasis; Abnormality of nervous system morphology; Abnormality of visual evoked potentials; Autosomal recessive inheritance; Babinski sign; Bilateral sensorineural hearing impairment; Brachycephaly; CNS demyelination; Death in infancy; Decreased light- and dark-adapted electroretinogram amplitude; Depressed nasal bridge; Developmental regression; Diffuse hepatic steatosis; Dysphagia; Dystonia; EEG abnormality; Elevated hepatic transaminases; Epicanthus; Failure to thrive; Frontal bossing; Gait disturbance; Global developmental delay; Hepatomegaly; Hyperreflexia; Hypertelorism; Hypertonia; Hypodontia; Infantile onset; Intellectual disability, progressive; Intellectual disability, severe; Inverted nipples; Irritability; Leukodystrophy; Low-set ears; Muscular hypotonia; Myopia; Neonatal hypotonia; Neurological speech impairment; No social interaction; Nystagmus; Optic atrophy; Pigmentary retinopathy; Respiratory insufficiency; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Strabismus; Tapetoretinal degeneration; Wide nasal bridge
ALG911q23.1100%gene with protein product606941DIBD1Abnormal heart morphology; Abnormal lung lobation; Autosomal recessive inheritance; Brachycephaly; Cognitive impairment; Congenital diaphragmatic hernia; Congenital onset; Convex nasal ridge; Delayed CNS myelination; Esotropia; Failure to thrive; Flexion contracture; Generalized hypotonia; Global brain atrophy; Global developmental delay; Hepatic failure; Hepatosplenomegaly; Hypertelorism; Inverted nipples; Large fleshy ears; Low-set ears; Microcephaly; Micrognathia; Muscular hypotonia; Pericardial effusion; Periportal fibrosis; Polycystic kidney dysplasia; Posteriorly rotated ears; Pulmonary hypoplasia; Retrognathia; Seizures; Short long bone; Short neck; Skeletal dysplasia; Smooth philtrum; Telecanthus; Ulnar deviation of the hand; Underdeveloped nasal alae
DPAGT111q23.3100%gene with protein product191350DPAGT2, DPAGTAutosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Clinodactyly of the 5th finger; Congenital onset; Exotropia; Generalized hypotonia; Global developmental delay; Hyperreflexia; Intellectual disability; Inverted nipples; Microcephaly; Micrognathia; Motor delay; Muscular hypotonia; Nystagmus; Proximal muscle weakness; Ptosis; Scoliosis; Seizures; Single transverse palmar crease; Skin dimples; Slow progression; Type I transferrin isoform profile; Variable expressivity
EBF310q26.3100%gene with protein product607407Apraxia; Astigmatism; Autosomal dominant inheritance; Broad chin; Broad nasal tip; Cryptorchidism; Deep philtrum; Deeply set eye; Delayed speech and language development; Downslanted palpebral fissures; Downturned corners of mouth; Dysarthria; Dysmetria; Dysphagia; Epicanthus; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High forehead; Horizontal eyebrow; Hypertelorism; Infantile onset; Intellectual disability; Inverted nipples; Long face; Low-set ears; Micropenis; Myopathic facies; Oval face; Overfolded helix; Posteriorly rotated ears; Prominent forehead; Prominent nasal bridge; Short chin; Stereotypy; Strabismus; Synophrys; Thin upper lip vermilion; Triangular face; Vesicoureteral reflux
EZH27q36.199.98%gene with protein product601573Abnormality of the fingernails; Abnormality of the metaphysis; Abnormally low-pitched voice; Absent septum pellucidum; Accelerated skeletal maturation; Autosomal dominant inheritance; Behavioral abnormality; Broad foot; Broad forehead; Broad thumb; Calcaneovalgus deformity; Camptodactyly; Camptodactyly of finger; Clinodactyly; Coxa valga; Cryptorchidism; Cutis laxa; Deep philtrum; Deep-set nails; Delayed speech and language development; Depressed nasal bridge; Diastasis recti; Dilation of lateral ventricles; Dimple chin; Downslanted palpebral fissures; Dysarthria; Dysharmonic bone age; Epicanthus; Feeding difficulties in infancy; Fine hair; Flared femoral metaphysis; Flared humeral metaphysis; Generalized hypotonia; Global developmental delay; Hoarse voice; Hydrocele testis; Hypertelorism; Hypertonia; Hypoplastic iliac wing; Hypoplastic toenails; Inguinal hernia; Intellectual disability; Inverted nipples; Joint contracture of the hand; Joint stiffness; Kyphosis; Large hands; Limited elbow extension; Limited knee extension; Long philtrum; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Mandibular prognathia; Metatarsus adductus; Micrognathia; Overlapping toe; Pes cavus; Prominent fingertip pads; Radial deviation of finger; Redundant skin; Retrognathia; Round face; Scoliosis; Seizures; Short fourth metatarsal; Short ribs; Slurred speech; Sparse hair; Spasticity; Strabismus; Talipes equinovarus; Tall stature; Thin nail; Umbilical hernia
HNRNPK9q21.3299.97%gene with protein product600712HNRPKAutosomal dominant inheritance; Constipation; Craniosynostosis; Cryptorchidism; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Feeding difficulties; Generalized hypotonia; Global developmental delay; High palate; Hip dysplasia; Intellectual disability; Inverted nipples; Long face; Long palpebral fissure; Microtia; Oligodontia; Open mouth; Overlapping toe; Pectus excavatum; Poor speech; Postaxial polydactyly; Ptosis; Sacral dimple; Scoliosis; Sparse lateral eyebrow; Thickened nuchal skin fold; Underdeveloped nasal alae; Wide intermamillary distance; Wide nasal ridge
PEX36q24.299.76%gene with protein product603164Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Broad forehead; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased fetal movement; Depressed nasal bridge; Developmental regression; Dolichocephaly; Downslanted palpebral fissures; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypospadias; Inverted nipples; Jaundice; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nephrocalcinosis; Neurogenic bladder; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Prolonged neonatal jaundice; Prominent nose; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spastic paraplegia; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PIGT20q13.12100%gene with protein product610272Abdominal pain; Abnormality of the dentition; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Cerebellar hypoplasia; Cerebral atrophy; Deep philtrum; Delayed skeletal maturation; Depressed nasal bridge; Diarrhea; Downturned corners of mouth; Dyspnea; EEG abnormality; Fatigue; Generalized hypotonia; Global developmental delay; Headache; Hemolytic anemia; High forehead; High palate; Hypercalciuria; Hypermetropia; Hypoplasia of the ulna; Infantile onset; Inverted nipples; Large for gestational age; Long philtrum; Macrocephaly; Narrow forehead; Nephrocalcinosis; Nystagmus; Open mouth; Osteopenia; Osteoporosis; Paroxysmal nocturnal hemoglobinuria; Patent ductus arteriosus; Pectus excavatum; Renal cyst; Restrictive cardiomyopathy; Scoliosis; Seizures; Somatic mutation; Strabismus; Ureteral stenosis; Urticaria; Visual impairment
PMM216p13.2100%gene with protein product601785CDG1Abnormal subcutaneous fat tissue distribution; Abnormality of the amniotic fluid; Ataxia; Autosomal recessive inheritance; Cardiomyopathy; Depressed nasal bridge; Diarrhea; Elevated hepatic transaminases; Esotropia; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Generalized hypotonia; Global developmental delay; Hepatic fibrosis; Hepatic steatosis; Hepatomegaly; Hypergonadotropic hypogonadism; Hypoalbuminemia; Hypocholesterolemia; Hyporeflexia; Hypothyroidism; IgA deficiency; IgG deficiency; Inverted nipples; Kyphosis; Macrotia; Microcephaly; Muscle weakness; Nephrotic syndrome; Nonimmune hydrops fetalis; Nystagmus; Olivopontocerebellar hypoplasia; Osteopenia; Pericardial effusion; Polyneuropathy; Premature ovarian insufficiency; Prolonged partial thromboplastin time; Prolonged prothrombin time; Prominent forehead; Proteinuria; Proximal tubulopathy; Reduced antithrombin III activity; Reduced factor XI activity; Renal cyst; Rod-cone dystrophy; Seizures; Stroke-like episode; Thin upper lip vermilion; Thrombocytosis; Type I transferrin isoform profile; Vomiting
RFT13p21.1100%gene with protein product611908Abnormal bleeding; Abnormal isoelectric focusing of serum transferrin; Abnormal thrombosis; Abnormality of coagulation; Abnormality of the coagulation cascade; Adducted thumb; Arthrogryposis multiplex congenita; Ataxia; Autosomal recessive inheritance; Failure to thrive; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatomegaly; Hyperreflexia; Infantile onset; Intellectual disability; Intellectual disability, severe; Inverted nipples; Microcephaly; Micrognathia; Muscular hypotonia; Myoclonus; Pes valgus; Reduced visual acuity; Respiratory insufficiency; Seizures; Sensorineural hearing impairment; Short neck; Short stature; Spasticity; Visual impairment
RFT13p21.1100%gene with protein product611908Abnormal bleeding; Abnormal isoelectric focusing of serum transferrin; Abnormal thrombosis; Abnormality of coagulation; Abnormality of the coagulation cascade; Adducted thumb; Arthrogryposis multiplex congenita; Ataxia; Autosomal recessive inheritance; Failure to thrive; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatomegaly; Hyperreflexia; Infantile onset; Intellectual disability; Intellectual disability, severe; Inverted nipples; Microcephaly; Micrognathia; Muscular hypotonia; Myoclonus; Pes valgus; Reduced visual acuity; Respiratory insufficiency; Seizures; Sensorineural hearing impairment; Short neck; Short stature; Spasticity; Visual impairment
SLC25A465q22.1100%gene with protein product610826Anteverted nares; Autosomal recessive inheritance; Bulbous nose; Distal sensory impairment; Flexion contracture; Generalized hypotonia; Global developmental delay; Hyporeflexia; Inverted nipples; Muscular hypotonia; Narrow forehead; Narrow palate; Optic atrophy; Pes cavus; Progressive visual loss; Steppage gait; Tapered finger; Tented upper lip vermilion; Variable expressivity
TBX312q24.21100%gene with protein product601621UMSAbnormality of temperature regulation; Abnormality of the fingernails; Abnormality of the uterus; Abnormality of the wrist; Absent axillary hair; Absent radius; Anal atresia; Anal stenosis; Anterior pituitary hypoplasia; Aplasia of the ulna; Aplasia/Hypoplasia of the ulna; Autosomal dominant inheritance; Axillary apocrine gland hypoplasia; Breast hypoplasia; Cryptorchidism; Decreased fertility; Deformed radius; Delayed puberty; Ectopic posterior pituitary; Hypodontia; Hypoplasia of penis; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic nipples; Hypoplastic scapulae; Imperforate hymen; Inguinal hernia; Inverted nipples; Micropenis; Obesity; Postaxial hand polydactyly; Pyloric stenosis; Shawl scrotum; Short 4th toe; Short 5th toe; Short clavicles; Short humerus; Short stature; Sparse axillary hair; Sparse lateral eyebrow; Subglottic stenosis; Ventricular septal defectObesity
WAC10p12.199.96%gene with protein product615049Abnormality of the pinna; Aggressive behavior; Agitation; Anxiety; Astigmatism; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Brachycephaly; Broad forehead; Bulbous nose; Coarse facial features; Deeply set eye; Delayed speech and language development; Depressed nasal bridge; Downturned corners of mouth; Full cheeks; Generalized hypotonia; Hearing impairment; Hirsutism; Hypertelorism; Infantile onset; Inverted nipples; Midface retrusion; Myopia; Posteriorly rotated ears; Prominent forehead; Short neck; Strabismus; Synophrys; Thick eyebrow; Thin upper lip vermilion


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