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

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Place an e-order of this Slice on a specific patient through the GeneDx Portal  
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Phenotypes
Corneal dystrophy

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AGBL115q25.396.81%gene with protein product615496Autosomal dominant inheritance; Corneal dystrophy
CHST616q23.1100%gene with protein product605294MCDC1Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Corneal dystrophy; Juvenile onset; Macular dystrophy; Photophobia; Punctate opacification of the cornea; Recurrent corneal erosions
COL8A21p34.3100%gene with protein product120252FECDAutosomal dominant inheritance; Corneal degeneration; Corneal dystrophy; Corneal guttata; Corneal opacity; Corneal stromal edema; Descemet Membrane Folds
COL8A21p34.3100%gene with protein product120252FECDAutosomal dominant inheritance; Corneal degeneration; Corneal dystrophy; Corneal guttata; Corneal opacity; Corneal stromal edema; Descemet Membrane Folds
GLAXq22.199.83%gene with protein product300644Abdominal pain; Abnormal aortic valve morphology; Abnormality of the hand; Abnormality of the renal tubule; Anemia; Angina pectoris; Angiokeratoma; Anorexia; Arrhythmia; Arthralgia; Arthritis; Atrioventricular block; Bundle branch block; Cataract; Coarse facial features; Cognitive impairment; Congestive heart failure; Conjunctival telangiectasia; Corneal dystrophy; Corneal opacity; Delayed puberty; Diarrhea; Dysautonomia; Emphysema; Fasciculations; Fatigue; Hematuria; Hyperkeratosis; Hyperlipidemia; Hypertension; Hypohidrosis; Juvenile onset; Left ventricular hypertrophy; Left ventricular septal hypertrophy; Lymphedema; Malabsorption; Mitral regurgitation; Muscle cramps; Myalgia; Myocardial infarction; Nausea; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Obstructive lung disease; Optic atrophy; Paresthesia; Proteinuria; Renal insufficiency; Seizures; Short stature; Subcutaneous nodule; Telangiectasia of the skin; Tenesmus; Thick lower lip vermilion; Transient ischemic attack; Vomiting; X-linked recessive inheritance
GLAXq22.199.83%gene with protein product300644Abdominal pain; Abnormal aortic valve morphology; Abnormality of the hand; Abnormality of the renal tubule; Anemia; Angina pectoris; Angiokeratoma; Anorexia; Arrhythmia; Arthralgia; Arthritis; Atrioventricular block; Bundle branch block; Cataract; Coarse facial features; Cognitive impairment; Congestive heart failure; Conjunctival telangiectasia; Corneal dystrophy; Corneal opacity; Delayed puberty; Diarrhea; Dysautonomia; Emphysema; Fasciculations; Fatigue; Hematuria; Hyperkeratosis; Hyperlipidemia; Hypertension; Hypohidrosis; Juvenile onset; Left ventricular hypertrophy; Left ventricular septal hypertrophy; Lymphedema; Malabsorption; Mitral regurgitation; Muscle cramps; Myalgia; Myocardial infarction; Nausea; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Obstructive lung disease; Optic atrophy; Paresthesia; Proteinuria; Renal insufficiency; Seizures; Short stature; Subcutaneous nodule; Telangiectasia of the skin; Tenesmus; Thick lower lip vermilion; Transient ischemic attack; Vomiting; X-linked recessive inheritance
KRT1217q21.2100%gene with protein product601687Autosomal dominant inheritance; Corneal dystrophy; Epiphora; Nonprogressive; Photophobia; Punctate opacification of the cornea; Reduced visual acuity
KRT312q13.13100%gene with protein product148043Autosomal dominant inheritance; Corneal dystrophy; Epiphora; Nonprogressive; Photophobia; Punctate opacification of the cornea; Reduced visual acuity
MBTPS2Xp22.12100%gene with protein product300294KFSDAbnormal morphology of the nasolacrimal system; Abnormal vertebral morphology; Abnormality of the eyelashes; Abnormality of the fingernails; Abnormality of the ribs; Absent eyebrow; Absent eyelashes; Aganglionic megacolon; Alopecia; Alopecia totalis; Anhidrosis; Ankylosis; Blepharitis; Brain atrophy; Carious teeth; Cleft palate; Congenital onset; Conjunctivitis; Convex nasal ridge; Corneal dystrophy; Corneal erosion; Cryptorchidism; Decreased testicular size; Dementia; Developmental regression; Dry skin; Dystrophic fingernails; Ectodermal dysplasia; Ectropion; Eczema; Epidermal acanthosis; Erythema; Erythroderma; Facial erythema; Failure to thrive; Feeding difficulties; Follicular hyperkeratosis; Folliculitis; Global developmental delay; Hearing impairment; Heat intolerance; Hemivertebrae; Heterogeneous; Hydrocephalus; Hyperconvex fingernails; Hyperkeratosis; Hypodontia; Hypohidrosis; Hypoplasia of the bladder; Hypoplasia of the corpus callosum; Hypoplastic fingernail; Hypotrichosis; Ichthyosis; Immunodeficiency; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Iris coloboma; Keratitis; Low-set ears; Microcephaly; Microphthalmia; Multicystic kidney dysplasia; Nail dysplasia; Nail dystrophy; Neonatal death; Oligohydramnios; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic nerve hypoplasia; Palmoplantar hyperhidrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papule; Parakeratosis; Perifollicular fibrosis; Photophobia; Plagiocephaly; Postaxial hand polydactyly; Protruding ear; Recurrent bacterial infections; Recurrent corneal erosions; Recurrent respiratory infections; Renal dysplasia; Renal hypoplasia; Scaling skin; Scarring alopecia of scalp; Scoliosis; Seizures; Sensorineural hearing impairment; Short stature; Skin fissure; Skin ulcer; Sparse and thin eyebrow; Sparse eyelashes; Specific learning disability; Subungual hyperkeratosis; Thin eyebrow; Thin fingernail; Umbilical hernia; Unilateral chest hypoplasia; Unilateral renal agenesis; Variable expressivity; Ventriculomegaly; Vesicoureteral reflux; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
PRDM54q2799.55%gene with protein product614161Abnormality of hair pigmentation; Autosomal recessive inheritance; Blue sclerae; Bruising susceptibility; Conductive hearing impairment; Corneal dystrophy; Corneal scarring; Gait disturbance; Hearing impairment; High myopia; Hyperextensible skin; Joint hyperflexibility; Keratoconus; Keratoglobus; Myalgia; Myopia; Osteoporosis; Sensorineural hearing impairment; Soft skin; Visual loss
SAT1Xp22.1199.89%gene with protein product313020SATBlepharitis; Conjunctivitis; Corneal dystrophy; Dry skin; Dystrophic fingernails; Ectropion; Facial erythema; Follicular hyperkeratosis; Folliculitis; Heterogeneous; Keratitis; Nail dysplasia; Palmoplantar keratoderma; Perifollicular fibrosis; Photophobia; Scarring alopecia of scalp; Sparse and thin eyebrow; Sparse eyelashes; X-linked recessive inheritancePalmoplantar keratoderma plus congenital ichthyosis
SLC4A1120p13100%gene with protein product610206CHED2, CDPD1Abnormality of metabolism/homeostasis; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital corneal dystrophy; Corneal dystrophy; Corneal opacity; Hemolytic anemia; Nystagmus; Opacification of the corneal stroma; Reticulocytosis; Sensorineural hearing impairment; Splenomegaly; Stomatocytosis; Visual impairment
SLC4A1120p13100%gene with protein product610206CHED2, CDPD1Abnormality of metabolism/homeostasis; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital corneal dystrophy; Corneal dystrophy; Corneal opacity; Hemolytic anemia; Nystagmus; Opacification of the corneal stroma; Reticulocytosis; Sensorineural hearing impairment; Splenomegaly; Stomatocytosis; Visual impairment
SLC4A1120p13100%gene with protein product610206CHED2, CDPD1Abnormality of metabolism/homeostasis; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital corneal dystrophy; Corneal dystrophy; Corneal opacity; Hemolytic anemia; Nystagmus; Opacification of the corneal stroma; Reticulocytosis; Sensorineural hearing impairment; Splenomegaly; Stomatocytosis; Visual impairment
TACSTD21p32.1100%gene with protein product137290M1S1Autosomal recessive inheritance; Blurred vision; Childhood onset; Corneal dystrophy; Photophobia; Reduced visual acuity; Visual impairment
TGFBI5q31.1100%gene with protein product601692CSD3, LCD1, CSD1, CSD2Autosomal dominant inheritance; Cataract; Corneal dystrophy; Corneal erosion; Corneal scarring; Granular corneal dystrophy; Juvenile epithelial corneal dystrophy; Lattice corneal dystrophy; Map-dot-fingerprint corneal dystrophy; Nodular corneal dystrophy; Opacification of the corneal stroma; Photophobia; Progressive visual loss; Punctate corneal dystrophy; Recurrent corneal erosions; Reduced visual acuity; Strabismus; Visual impairment
TGFBI5q31.1100%gene with protein product601692CSD3, LCD1, CSD1, CSD2Autosomal dominant inheritance; Cataract; Corneal dystrophy; Corneal erosion; Corneal scarring; Granular corneal dystrophy; Juvenile epithelial corneal dystrophy; Lattice corneal dystrophy; Map-dot-fingerprint corneal dystrophy; Nodular corneal dystrophy; Opacification of the corneal stroma; Photophobia; Progressive visual loss; Punctate corneal dystrophy; Recurrent corneal erosions; Reduced visual acuity; Strabismus; Visual impairment
TGFBI5q31.1100%gene with protein product601692CSD3, LCD1, CSD1, CSD2Autosomal dominant inheritance; Cataract; Corneal dystrophy; Corneal erosion; Corneal scarring; Granular corneal dystrophy; Juvenile epithelial corneal dystrophy; Lattice corneal dystrophy; Map-dot-fingerprint corneal dystrophy; Nodular corneal dystrophy; Opacification of the corneal stroma; Photophobia; Progressive visual loss; Punctate corneal dystrophy; Recurrent corneal erosions; Reduced visual acuity; Strabismus; Visual impairment
UBIAD11p36.22100%gene with protein product611632SCCDAutosomal dominant inheritance; Corneal dystrophy; Crystalline corneal dystrophy
ZEB110p11.22100%gene with protein product189909TCF8, PPCD3Autosomal dominant inheritance; Corneal dystrophy; Corneal guttata
ZEB110p11.22100%gene with protein product189909TCF8, PPCD3Autosomal dominant inheritance; Corneal dystrophy; Corneal guttata
ZNF46916q24.2100%gene with protein product612078Abnormality of hair pigmentation; Atypical scarring of skin; Autosomal recessive inheritance; Blue sclerae; Bruising susceptibility; Conductive hearing impairment; Congenital hip dislocation; Corneal dystrophy; Corneal scarring; Decreased corneal thickness; Dentinogenesis imperfecta; Disproportionate tall stature; Epicanthus; Gait disturbance; Hearing impairment; High myopia; Hyperextensible skin; Joint hyperflexibility; Joint laxity; Keratoconus; Keratoglobus; Macrocephaly; Mitral valve prolapse; Molluscoid pseudotumors; Myalgia; Myopia; Osteoporosis; Palmoplantar cutis laxa; Red hair; Scoliosis; Sensorineural hearing impairment; Soft skin; Spondylolisthesis; Visual loss


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