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
Diffuse palmoplantar keratoderma

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AQP512q13.12100%gene with protein product600442Abnormal blistering of the skin; Diffuse palmoplantar keratoderma; Erythema; Papule; Pruritus; Skin ulcerPalmoplantar keratoderma plus congenital ichthyosis
KLHL243q27.199.99%gene with protein product611295Autosomal dominant inheritance; Diffuse palmoplantar keratoderma; Dystrophic toenail; Sparse body hairPalmoplantar keratoderma plus congenital ichthyosis
KRT112q13.1399.88%gene with protein product139350EHK1Abnormal blistering of the skin; Abnormality of metabolism/homeostasis; Abnormality of the fingernails; Abnormality of the hair; Abnormality of the nail; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital bullous ichthyosiform erythroderma; Cutaneous photosensitivity; Diffuse palmoplantar keratoderma; Eczema; Epidermal acanthosis; Erythema; Erythroderma; Flexion contracture; Hyperhidrosis; Ichthyosis; Increased IgE level; Localized epidermolytic hyperkeratosis; Nail dystrophy; Nonepidermolytic palmoplantar keratoderma; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Poor appetite; Recurrent skin infections; Scaling skin; Verrucae; Weight lossEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
KRT1417q21.2100%gene with protein product148066EBS3, EBS4Abnormal blistering of the skin; Abnormal pattern of respiration; Abnormality of dental enamel; Abnormality of the conjunctiva; Abnormality of the nail; Adermatoglyphia; Alopecia of scalp; Anemia; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Carious teeth; Congenital onset; Dermal atrophy; Diffuse palmoplantar keratoderma; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Fragile nails; Generalized hyperkeratosis; Growth delay; Heat intolerance; Hyperhidrosis; Hypohidrosis; Hypohidrosis or hyperhidrosis; Hypopigmented skin patches; Hypoplasia of dental enamel; Milia; Nail dysplasia; Nail dystrophy; Neonatal onset; Ophthalmoparesis; Oral leukoplakia; Palmoplantar blistering; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Premature loss of teeth; Prematurely aged appearance; Ptosis; Recurrent skin infections; Reticular hyperpigmentation; Reticulate pigmentation of oral mucosa; Reticulated skin pigmentation; Ridged nail; Skin vesicle; Subcutaneous hemorrhage; Thick nail; Variable expressivityEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
SLURP18q24.3100%gene with protein product606119Abnormality of the mouth; Autosomal recessive inheritance; Brachydactyly; Concave nail; Congenital symmetrical palmoplantar keratosis; Diffuse palmoplantar keratoderma; Erythema; Fragile nails; Hyperhidrosis; Hyperkeratosis with erythema; Ichthyosis; Infantile onset; Subungual hyperkeratosis; Thick nailPalmoplantar keratoderma plus congenital ichthyosis
SNAP2922q11.21100%gene with protein product604202Abnormality of eye movement; Abnormality of peripheral nerve conduction; Abnormality of the corpus callosum; Areflexia; Ataxia; Autosomal recessive inheritance; Cortical dysplasia; Depressed nasal bridge; Diffuse palmoplantar keratoderma; Downslanted palpebral fissures; Failure to thrive; Global developmental delay; Hypertelorism; Ichthyosis; Infantile onset; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Long face; Microcephaly; Muscular hypotonia; Optic atrophy; Optic disc hypoplasia; Pachygyria; Palmoplantar keratoderma; Peripheral neuropathy; Polymicrogyria; Polyneuropathy; Poor head control; Progressive microcephaly; Prominent nasal bridge; Sensorineural hearing impairment; Wide nasal bridgePalmoplantar 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