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
Accessory oral frenulum

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ASXL120q11.21100%gene with protein product612990Abnormal anterior chamber morphology; Abnormality of cardiovascular system morphology; Abnormality of the optic nerve; Abnormality of the pancreas; Accessory oral frenulum; Agenesis of corpus callosum; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Broad alveolar ridges; Broad palm; Camptodactyly; Camptodactyly of finger; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Convex nasal ridge; Dandy-Walker malformation; Death in infancy; Deep palmar crease; Deep plantar creases; Delayed peripheral myelination; Dislocated radial head; Elbow dislocation; Facial hemangioma; Failure to thrive; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Heterotopia; Hirsutism; Hyperechogenic pancreas; Hypertelorism; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability, profound; Intellectual disability, severe; Intestinal malrotation; Intrauterine growth retardation; Limitation of joint mobility; Long face; Low anterior hairline; Low-set ears; Mesomelic/rhizomelic limb shortening; Microcephaly; Micrognathia; Myelodysplasia; Myopia; Narrow chest; Narrow forehead; Narrow palate; Nevus flammeus; Nevus flammeus of the forehead; Overlapping toe; Platyspondyly; Polyhydramnios; Posteriorly rotated ears; Prominent forehead; Prominent metopic ridge; Proptosis; Retinopathy; Retrognathia; Sacral dimple; Seizures; Short thorax; Short toe; Somatic mutation; Strabismus; Supernumerary nipple; Syndactyly; Synophrys; Tapered finger; Thick hair; Trigonocephaly; Ulnar deviation of finger; Ulnar deviation of the wrist; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge
CD963q13.13-q13.99.8%gene with protein product606037Abnormality of cardiovascular system morphology; Abnormality of immune system physiology; Abnormality of the anus; Accessory oral frenulum; Anteverted nares; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Biparietal narrowing; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cryptorchidism; Cutis laxa; Delayed skeletal maturation; Depressed nasal bridge; Dislocated radial head; Epicanthus; Failure to thrive; Failure to thrive in infancy; Female pseudohermaphroditism; Fused sternal ossification centers; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hepatomegaly; High palate; Hip dislocation; Hypoplasia of the ear cartilage; Intellectual disability; Limitation of joint mobility; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micromelia; Midline facial capillary hemangioma; Muscular hypotonia; Omphalocele; Patent ductus arteriosus; Pectus excavatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Radial deviation of finger; Redundant skin; Renal cortical cysts; Sacral dimple; Scoliosis; Seizures; Short metacarpal; Short neck; Short nose; Short stature; Smooth philtrum; Strabismus; Talipes; Thick anterior alveolar ridges; Thin vermilion border; Toe syndactyly; Trigonocephaly; Ulnar deviation of finger; Upslanted palpebral fissure; Ventricular septal defect; Wide mouth; Wide nasal bridge
CD963q13.13-q13.99.8%gene with protein product606037Abnormality of cardiovascular system morphology; Abnormality of immune system physiology; Abnormality of the anus; Accessory oral frenulum; Anteverted nares; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Biparietal narrowing; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cryptorchidism; Cutis laxa; Delayed skeletal maturation; Depressed nasal bridge; Dislocated radial head; Epicanthus; Failure to thrive; Failure to thrive in infancy; Female pseudohermaphroditism; Fused sternal ossification centers; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hepatomegaly; High palate; Hip dislocation; Hypoplasia of the ear cartilage; Intellectual disability; Limitation of joint mobility; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micromelia; Midline facial capillary hemangioma; Muscular hypotonia; Omphalocele; Patent ductus arteriosus; Pectus excavatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Radial deviation of finger; Redundant skin; Renal cortical cysts; Sacral dimple; Scoliosis; Seizures; Short metacarpal; Short neck; Short nose; Short stature; Smooth philtrum; Strabismus; Talipes; Thick anterior alveolar ridges; Thin vermilion border; Toe syndactyly; Trigonocephaly; Ulnar deviation of finger; Upslanted palpebral fissure; Ventricular septal defect; Wide mouth; Wide nasal bridge
EFTUD217q21.31100%gene with protein product603892Abnormality of the antihelix; Absent tragus; Accessory oral frenulum; Anteverted nares; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Choanal atresia; Cleft palate; Conductive hearing impairment; Deep philtrum; Delayed speech and language development; Downslanted palpebral fissures; Epicanthus; Feeding difficulties; Feeding difficulties in infancy; Global developmental delay; Hypoplasia of the maxilla; Intellectual disability; Large earlobe; Low-set ears; Malar flattening; Mandibulofacial dysostosis; Microcephaly; Micrognathia; Microtia; Midface retrusion; Morphological abnormality of the middle ear; Overfolded helix; Postnatal microcephaly; Preauricular skin tag; Preaxial hand polydactyly; Progressive microcephaly; Respiratory distress; Short nose; Short stature; Slender finger; Telecanthus; Trigonocephaly; Underdeveloped tragus; Upslanted palpebral fissure
GLI37p14.1100%gene with protein product165240GCPS, PHS1-5 toe syndactyly; 3-4 finger cutaneous syndactyly; 3-4 finger syndactyly; Abnormal basal ganglia MRI signal intensity; Abnormal lung lobation; Abnormal prolactin level; Abnormality of earlobe; Accelerated skeletal maturation; Accessory oral frenulum; Adrenocorticotropic hormone deficiency; Anal atresia; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid epiglottis; Bifid uvula; Bilateral postaxial polydactyly; Brachydactyly; Broad hallux phalanx; Broad thumb; Central adrenal insufficiency; Cryptorchidism; Dandy-Walker malformation; Decreased circulating cortisol level; Decreased testicular size; Depressed nasal ridge; Distal shortening of limbs; Distal urethral duplication; Downslanted palpebral fissures; Dysplastic distal thumb phalanges with a central hole; Ectopic kidney; Esophageal atresia; Finger syndactyly; Frontal bossing; Gonadotropin deficiency; Growth hormone deficiency; Hemivertebrae; High forehead; Hip dislocation; Holoprosencephaly; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the epiglottis; Hypothalamic hamartoma; Intellectual disability, severe; Intrauterine growth retardation; Laryngeal cleft; Low-set, posteriorly rotated ears; Macrocephaly; Mesoaxial foot polydactyly; Mesoaxial hand polydactyly; Micropenis; Microphthalmia; Microtia; Nail dysplasia; Natal tooth; Neonatal death; Panhypopituitarism; Pituitary hypothyroidism; Polydactyly affecting the 3rd finger; Polydactyly affecting the 4th finger; Postaxial foot polydactyly; Postaxial hand polydactyly; Preaxial foot polydactyly; Preaxial polydactyly; Precocious puberty; Preductal coarctation of the aorta; Prominent occiput; Ptosis; Radial bowing; Radial head subluxation; Recurrent upper and lower respiratory tract infections; Renal cyst; Renal dysplasia; Renal hypoplasia; Rib fusion; Scaphocephaly; Secondary growth hormone deficiency; Seizures; Short 4th metacarpal; Short nose; Short stature; Skeletal dysplasia; Sloping forehead; Supernumerary metacarpal bones; Telecanthus; Thyroid dysgenesis; Toe syndactyly; Tracheoesophageal fistula; Trigonocephaly; Triphalangeal thumb; Variable expressivity; Ventricular septal defect; Wide nasal bridgeVACTERL Association
KLHL77p15.3100%gene with protein product611119Abnormal anterior chamber morphology; Abnormal electroretinogram; Abnormality of cardiovascular system morphology; Abnormality of retinal pigmentation; Abnormality of the pancreas; Abnormality of the retinal vasculature; Abnormality of the testis; Accessory oral frenulum; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Biparietal narrowing; Blindness; Camptodactyly of finger; Cataract; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Conductive hearing impairment; Convex nasal ridge; Death in infancy; Elbow dislocation; Failure to thrive; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Glaucoma; Global developmental delay; Hyperinsulinemia; Hypertelorism; Hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Intellectual disability; Intellectual disability, severe; Intestinal malrotation; Intrauterine growth retardation; Keratoconus; Limitation of joint mobility; Low anterior hairline; Low-set ears; Microcephaly; Narrow chest; Nevus flammeus of the forehead; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Pallor; Photophobia; Platyspondyly; Progressive night blindness; Prominent metopic ridge; Proptosis; Retinopathy; Retrognathia; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Short thorax; Strabismus; Supernumerary nipple; Synophrys; Thick hair; Trigonocephaly; Ulnar deviation of finger; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Wide intermamillary distance; Wide nasal bridge
OFD1Xp22.299.66%gene with protein product300170CXorf5, RP23Abnormal cortical gyration; Abnormal electroretinogram; Abnormal heart morphology; Abnormality of color vision; Abnormality of retinal pigmentation; Abnormality of the cerebellum; Abnormality of the retinal vasculature; Abnormality of the rib cage; Abnormality of the testis; Abnormality of toe; Accessory oral frenulum; Agenesis of corpus callosum; Agenesis of permanent teeth; Alopecia; Alveolar ridge overgrowth; Anteverted nares; Arachnoid cyst; Ataxia; Atypical scarring of skin; Bifid tongue; Blindness; Brachydactyly; Broad alveolar ridges; Broad palm; Carious teeth; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphysis; Congenital hip dislocation; Congenital onset; Deep philtrum; Downslanted palpebral fissures; Enlarged cisterna magna; Epicanthus; Facial asymmetry; Facial capillary hemangioma; Feeding difficulties in infancy; Finger syndactyly; Foot polydactyly; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Gray matter heterotopias; Growth delay; Hamartoma of tongue; Hearing impairment; Hepatic cysts; Hepatic fibrosis; High palate; Hirsutism; Hydrocephalus; Hyperactive deep tendon reflexes; Hyperinsulinemia; Hypertelorism; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of dental enamel; Hypoplasia of penis; Hypothalamic hamartoma; Increased number of teeth; Inguinal hernia; Intellectual disability; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Keratoconus; Lobulated tongue; Low-set ears; Macrocephaly; Median cleft lip; Microcephaly; Micropenis; Microretrognathia; Milia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Ovarian cyst; Photophobia; Pneumonia; Polycystic kidney dysplasia; Polydactyly; Porencephalic cyst; Postaxial polydactyly; Posteriorly rotated ears; Progressive night blindness; Proteinuria; Radial deviation of finger; Recurrent infections; Recurrent respiratory infections; Recurrent upper respiratory tract infections; Reduced bone mineral density; Rod-cone dystrophy; Scaphocephaly; Seizures; Sensorineural hearing impairment; Short finger; Short neck; Short nose; Short stature; Short toe; Single transverse palmar crease; Small nail; Sparse hair; Syndactyly; Talipes equinovarus; Tapered finger; Telecanthus; Thick vermilion border; Thickened nuchal skin fold; Thin upper lip vermilion; Tongue nodules; U-Shaped upper lip vermilion; Underdeveloped nasal alae; Wide intermamillary distance; Wide mouth; Wide nasal bridge; Wide nose; X-linked dominant inheritance; X-linked recessive inheritanceHeterotaxy ; Obesity
TCTN310q24.1100%gene with protein product613847C10orf61Abnormal oral frenulum morphology; Abnormality of eye movement; Abnormality of the gingiva; Abnormality of the tongue; Absent testis; Accessory oral frenulum; Aplasia/Hypoplasia of the tibia; Autosomal recessive inheritance; Bifid uvula; Brachydactyly; Camptodactyly; Camptodactyly of finger; Cerebral atrophy; Cerebral cortical hemiatrophy; Choanal atresia; Cleft palate; Clinodactyly; Conductive hearing impairment; Decreased testicular size; Depressed nasal ridge; Epicanthus; Failure to thrive; Feeding difficulties; Finger syndactyly; Foot polydactyly; Genu varum; Global developmental delay; Hamartoma; Hamartoma of tongue; Hand polydactyly; High palate; High, narrow palate; Horseshoe kidney; Hypertelorism; Intellectual disability; Intrauterine growth retardation; Joint dislocation; Joint laxity; Kyphoscoliosis; Laryngomalacia; Lobulated tongue; Low-set ears; Median cleft lip; Microcephaly; Micrognathia; Micromelia; Microtia, third degree; Molar tooth sign on MRI; Monorchism; Oligohydramnios; Oral synechia; Pectus excavatum; Phenotypic variability; Polydactyly; Porencephalic cyst; Postaxial hand polydactyly; Posteriorly rotated ears; Preaxial hand polydactyly; Proptosis; Recurrent respiratory infections; Retrognathia; Severe short stature; Short finger; Short nose; Short stature; Short tibia; Specific learning disability; Split hand; Subcortical cerebral atrophy; Submucous cleft hard palate; Toe syndactyly; Tongue nodules; Ventricular septal defect; Wide noseDisorders of Sex Development; Heterotaxy ; Short-Rib Thoracic Dysplasia


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