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
Punctate keratitis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
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
NLRP117p1399.96%gene with protein product606636NALP1, SLEV1Antinuclear antibody positivity; Autoimmune hemolytic anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Corneal neovascularization; Dry skin; Ectodermal dysplasia; Epidermal acanthosis; Failure to thrive; Follicular hyperkeratosis; Growth delay; Hyperkeratosis; Increased IgA level; Keratoconjunctivitis sicca; Palmoplantar keratoderma; Parakeratosis; Photophobia; Polyarticular arthritis; Punctate keratitis; Splenomegaly; Squamous cell carcinoma; Thyroiditis; UveitisAutoimmune Disorders ; Palmoplantar keratoderma plus congenital ichthyosis
PLEC8q24.3100%gene with protein product601282EBS1, PLEC1Abnormal blistering of the skin; Abnormality of dental enamel; Abnormality of the genitourinary system; Abnormality of the stomach; Alopecia; Anemia; Anonychia; Aphasia; Aplasia cutis congenita; Aplasia of the bladder; Arthrogryposis multiplex congenita; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary pterygia; Bruising susceptibility; Carious teeth; Congenital onset; Congenital pyloric atresia; Death in infancy; Deeply set eye; Dehydration; Dermal atrophy; Difficulty climbing stairs; Dysphagia; Dysphasia; Echolalia; Ectropion; Elevated maternal serum alpha-fetoprotein; Elevated serum creatine phosphokinase; Esophageal atresia; Failure to thrive; Flexion contracture; Fragile skin; Generalized muscle weakness; Glomerulosclerosis; Gowers sign; Hydronephrosis; Hyperconvex fingernails; Hypoplasia of dental enamel; Hypoplastic fingernail; Increased connective tissue; Intractable diarrhea; Junctional split; Keratitis; Limitation of joint mobility; Lumbar hyperlordosis; Microtia; Milia; Motor delay; Muscle flaccidity; Muscular dystrophy; Mutism; Myopathy; Nail dysplasia; Nail dystrophy; Neonatal respiratory distress; Oculomotor nerve palsy; Onychogryposis of toenails; Ophthalmoplegia; Oral mucosal blisters; Palmoplantar hyperkeratosis; Papule; Plantar hyperkeratosis; Polyhydramnios; Premature birth; Ptosis; Punctate keratitis; Rapidly progressive; Renal dysplasia; Scarring alopecia of scalp; Sepsis; Short stature; Skeletal muscle atrophy; Skin erosion; Skin fragility with non-scarring blistering; Skin vesicle; Thick nail; Underdeveloped nasal alae; Ureterocele; Urethral stricture


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