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
Dilatated internal auditory canal

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
EYA18q13.3100%gene with protein product601653BORAbnormal dermatoglyphics; Abnormality of the antihelix; Abnormality of the cerebrum; Abnormality of the clavicle; Abnormality of the middle ear ossicles; Abnormality of the renal collecting system; Anteverted nares; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Branchial cyst; Branchial fistula; Cholesteatoma; Cleft palate; Cochlear malformation; Conductive hearing impairment; Congenital hip dislocation; Cupped ear; Delayed skeletal maturation; Depressed nasal bridge; Dilatated internal auditory canal; Down-sloping shoulders; Enlarged cochlear aqueduct; Euthyroid goiter; External ear malformation; Full cheeks; Global developmental delay; Gustatory lacrimation; Hearing impairment; Heterogeneous; High palate; Hyperreflexia; Hypertonia; Hypoplasia of the cochlea; Incomplete partition of the cochlea type II; Incomplete penetrance; Intellectual disability; Intellectual disability, mild; Intestinal malrotation; Long face; Long neck; Low-set ears; Macrotia; Microdontia; Microtia; Mixed hearing impairment; Morphological abnormality of the middle ear; Narrow face; Narrow nose; Neurological speech impairment; Overbite; Polycystic kidney dysplasia; Preauricular pit; Preauricular skin tag; Protruding ear; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Renal malrotation; Renal steatosis; Retrognathia; Scapular winging; Sensorineural hearing impairment; Short stature; Stenosis of the external auditory canal; Variable expressivity; Vesicoureteral refluxCongenital Kidney and Urinary Tract (CKUT) Anomalies
EYA18q13.3100%gene with protein product601653BORAbnormal dermatoglyphics; Abnormality of the antihelix; Abnormality of the cerebrum; Abnormality of the clavicle; Abnormality of the middle ear ossicles; Abnormality of the renal collecting system; Anteverted nares; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Branchial cyst; Branchial fistula; Cholesteatoma; Cleft palate; Cochlear malformation; Conductive hearing impairment; Congenital hip dislocation; Cupped ear; Delayed skeletal maturation; Depressed nasal bridge; Dilatated internal auditory canal; Down-sloping shoulders; Enlarged cochlear aqueduct; Euthyroid goiter; External ear malformation; Full cheeks; Global developmental delay; Gustatory lacrimation; Hearing impairment; Heterogeneous; High palate; Hyperreflexia; Hypertonia; Hypoplasia of the cochlea; Incomplete partition of the cochlea type II; Incomplete penetrance; Intellectual disability; Intellectual disability, mild; Intestinal malrotation; Long face; Long neck; Low-set ears; Macrotia; Microdontia; Microtia; Mixed hearing impairment; Morphological abnormality of the middle ear; Narrow face; Narrow nose; Neurological speech impairment; Overbite; Polycystic kidney dysplasia; Preauricular pit; Preauricular skin tag; Protruding ear; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Renal malrotation; Renal steatosis; Retrognathia; Scapular winging; Sensorineural hearing impairment; Short stature; Stenosis of the external auditory canal; Variable expressivity; Vesicoureteral refluxCongenital Kidney and Urinary Tract (CKUT) Anomalies
GJB213q12.11100%gene with protein product121011DFNB1, DFNA3Abnormality of corneal stroma; Abnormality of the eyelashes; Absent eyelashes; Alopecia; Amniotic constriction ring; Aplasia/Hypoplasia of the eyebrow; Autoamputation of digits; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cognitive impairment; Conductive hearing impairment; Corneal neovascularization; Corneal scarring; Corneal ulceration; Digenic inheritance; Dilatated internal auditory canal; Dystrophic fingernails; Dystrophic toenail; Elbow flexion contracture; Erythema; Erythroderma; Fine hair; Furrowed tongue; Generalized hyperkeratosis; Hearing impairment; Honeycomb palmoplantar keratoderma; Hyperkeratosis; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplastic fingernail; Hypoplastic toenails; Ichthyosis; Infantile onset; Keratitis; Keratoconjunctivitis sicca; Knee flexion contracture; Leukonychia; Macule; Nail dysplasia; Nail dystrophy; Oral leukoplakia; Osteolysis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Pes cavus; Photophobia; Progressive sensorineural hearing impairment; Punctate keratitis; Recurrent bacterial skin infections; Recurrent corneal erosions; Scarring alopecia of scalp; Sensorineural hearing impairment; Skin ulcer; Sparse and thin eyebrow; Sparse eyelashes; Sparse hair; Squamous cell carcinoma; Stapes ankylosis; Subcutaneous nodule; Trichiasis; Visual impairment; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
GJB613q12.11100%gene with protein product604418DFNA3, ED2Abnormality of nail color; Abnormality of the dentition; Abnormality of the eyelashes; Absent axillary hair; Absent pubic hair; Adult onset sensorineural hearing impairment; Alopecia; Alopecia totalis; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Brittle hair; Cataract; Conductive hearing impairment; Conjunctivitis; Corneal neovascularization; Digenic inheritance; Dilatated internal auditory canal; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Erythema; Fine hair; Fragile nails; Furrowed tongue; Generalized hyperkeratosis; Generalized hyperpigmentation; Hearing impairment; Hyperconvex nail; Hyperpigmentation of the skin; Hypohidrosis; Hypoplastic fingernail; Hypoplastic toenails; Hypotrichosis; Ichthyosis; Irregular hyperpigmentation; Keratitis; Macule; Nail dysplasia; Nail dystrophy; Onycholysis; Oral leukoplakia; Osteolysis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Photophobia; Progressive sensorineural hearing impairment; Recurrent bacterial skin infections; Sensorineural hearing impairment; Short stature; Skin ulcer; Slow-growing hair; Small nail; Sparse and thin eyebrow; Sparse axillary hair; Sparse eyelashes; Sparse hair; Sparse pubic hair; Sparse scalp hair; Stapes ankylosis; Strabismus; Thick nail; Variable expressivity; Visual impairment; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
POU3F4Xq21.1100%gene with protein product300039DFN3Conductive hearing impairment; Dilatated internal auditory canal; Progressive sensorineural hearing impairment; Stapes ankylosis; X-linked recessive inheritance
SIX114q23.1100%gene with protein product601205DFNA23Abnormality of the cerebrum; Abnormality of the middle ear ossicles; Abnormality of the renal collecting system; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Branchial cyst; Branchial fistula; Cholesteatoma; Cleft palate; Commissural lip pit; Conductive hearing impairment; Congenital hip dislocation; Dilatated internal auditory canal; Enlarged cochlear aqueduct; Euthyroid goiter; External ear malformation; Gustatory lacrimation; Hearing impairment; Heterogeneous; High palate; Hypoplasia of the cochlea; Incomplete partition of the cochlea type II; Incomplete penetrance; Intestinal malrotation; Lacrimal duct stenosis; Long face; Microdontia; Mixed hearing impairment; Morphological abnormality of the middle ear; Narrow face; Overbite; Polycystic kidney dysplasia; Preauricular pit; Preauricular skin tag; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Renal malrotation; Renal steatosis; Sensorineural hearing impairment; Stenosis of the external auditory canal; Variable expressivity; Vesicoureteral refluxCongenital Kidney and Urinary Tract (CKUT) Anomalies


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