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
Amniotic constriction ring

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
FERMT120p12.399.78%gene with protein product607900C20orf42Abnormal blistering of the skin; Abnormal pigmentation of the oral mucosa; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of skin pigmentation; Abnormality of the preputium; Amniotic constriction ring; Ankyloglossia; Aplasia/Hypoplasia of the skin; Autosomal recessive inheritance; Camptodactyly of finger; Carious teeth; Cheilitis; Colitis; Corneal erosion; Cutaneous photosensitivity; Dermal atrophy; Diffuse skin atrophy; Dysphagia; Dystrophic fingernails; Dystrophic toenail; Eczema; Erythema; Esophageal stricture; Esophagitis; Finger syndactyly; Fragile skin; Gingival bleeding; Gingivitis; Hypopigmented skin patches; Ichthyosis; Irregular hyperpigmentation; Narrow mouth; Oral leukoplakia; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papule; Periodontitis; Phimosis; Poikiloderma; Premature loss of primary teeth; Pustule; Recurrent skin infections; Ridged nail; Skin ulcer; Spotty hyperpigmentation; Spotty hypopigmentation; Symblepharon; Telangiectases in sun-exposed and nonexposed skin; Telangiectasia of the skin; Thin skin; Turricephaly; Urticaria; XerostomiaPalmoplantar keratoderma plus congenital ichthyosis
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
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
GLE19q34.1199.99%gene with protein product603371GLE1L, LCCS1Abnormal anterior horn cell morphology; Abnormal cortical bone morphology; Abnormality of the amniotic fluid; Abnormality of the elbow; Abnormality of the hip bone; Abnormality of the ribs; Abnormality of the thorax; Amniotic constriction ring; Amyotrophic lateral sclerosis; Anxiety; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Depressivity; Dyspnea; Edema; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Fetal akinesia sequence; Generalized muscle weakness; Hypertelorism; Hypoplasia of the musculature; Limitation of joint mobility; Low-set ears; Low-set, posteriorly rotated ears; Micrognathia; Muscle cramps; Neonatal death; Neurodegeneration; Pain; Paralysis; Paucity of anterior horn motor neurons; Polyhydramnios; Pulmonary hypoplasia; Recurrent fractures; Respiratory failure; Short neck; Short stature; Skeletal muscle atrophy; Slender long bone; Spasticity; Webbed neck; Widening of cervical spinal canal; Xerostomia
POMP13q12.399.13%gene with protein product613386C13orf12Amniotic constriction ring; Autosomal recessive inheritance; Congenital nonbullous ichthyosiform erythroderma; Honeycomb palmoplantar keratoderma; Hyperconvex nail; Ichthyosis; Linear arrays of macular hyperkeratoses in flexural areas; Nail dystrophy; Palmoplantar keratoderma; ParakeratosisPalmoplantar keratoderma plus congenital ichthyosis


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