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
Skin plaque

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
CD282q33.2100%gene with protein product186760Abnormal lymphocyte morphology; Alopecia; Cutaneous T-cell lymphoma; Dry skin; Eczema; Erythema; Erythroderma; Hepatomegaly; Hypopigmented skin patches; Immunodeficiency; Irregular hyperpigmentation; Lichenification; Lymphadenopathy; Nail dystrophy; Neoplasm of the skin; Palmoplantar keratoderma; Poikiloderma; Pruritus; Skin plaque; Skin rash; Splenomegaly
CTLA42q33.2100%gene with protein product123890CELIAC3, IDDM12Abdominal pain; Abnormal lymphocyte morphology; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Alopecia; Arthralgia; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Cerebral ischemia; Chest pain; Chronic obstructive pulmonary disease; Cough; Cutaneous T-cell lymphoma; Decreased antibody level in blood; Diarrhea; Dry skin; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Erythema; Erythroderma; Fatigue; Fever; Glomerulopathy; Granulomatosis; Hematuria; Hemoptysis; Hepatomegaly; Hypopigmented skin patches; Immunodeficiency; Incomplete penetrance; Inflammatory abnormality of the eye; Irregular hyperpigmentation; Lichenification; Lymphadenopathy; Nail dystrophy; Nausea and vomiting; Neoplasm of the skin; Palmoplantar keratoderma; Papule; Periorbital edema; Poikiloderma; Proteinuria; Pruritus; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Sinusitis; Skin plaque; Skin rash; Splenomegaly; Vasculitis; Weight lossAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
KDSR18q21.3399.9%gene with protein product136440FVT1Abnormal blistering of the skin; Alopecia; Autosomal recessive inheritance; Cataract; Cutaneous photosensitivity; Diabetes mellitus; Dry skin; Epidermal acanthosis; Erythema; Glaucoma; Hypermelanotic macule; Microcephaly; Palmoplantar keratoderma; Patchy palmoplantar keratoderma; Short stature; Skin plaque; Skin rash; Weight lossPalmoplantar keratoderma plus congenital ichthyosis
KRT1617q21.2100%gene with protein product148067Abnormal blistering of the skin; Abnormality of nail color; Abnormality of the fingernails; Autosomal dominant inheritance; Carious teeth; Eczema; Epidermoid cyst; Erythema; Follicular hyperkeratosis; Heterogeneous; Hyperhidrosis; Ichthyosis; Localized epidermolytic hyperkeratosis; Nail dystrophy; Oral leukoplakia; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Skin plaque; Thick nail; VerrucaeEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
KRT1717q21.2100%gene with protein product148069PCHC1Abnormal blistering of the skin; Abnormality of nail color; Adenoma sebaceum; Autosomal dominant inheritance; Carious teeth; Dry hair; Epidermoid cyst; Folliculitis; Heterogeneous; Hoarse voice; Hyperhidrosis; Ichthyosis; Nail dysplasia; Nail dystrophy; Natal tooth; Oral leukoplakia; Palmoplantar hyperhidrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Skin plaque; Sparse and thin eyebrow; Sparse scalp hair; Steatocystoma multiplex; Subungual hyperkeratosis; Thick nailPalmoplantar keratoderma plus congenital ichthyosis
KRT6A12q13.13100%gene with protein product148041KRT6C, KRT6DAbnormal blistering of the skin; Abnormality of nail color; Carious teeth; Chapped lip; Epidermoid cyst; Furrowed tongue; Gingivitis; Hyperhidrosis; Ichthyosis; Nail dystrophy; Onychogryposis of toenails; Oral leukoplakia; Palmar hyperkeratosis; Palmoplantar keratoderma; Plantar hyperkeratosis; Skin plaque; Thick nailPalmoplantar keratoderma plus congenital ichthyosis
KRT6B12q13.13100%gene with protein product148042KRTL1Abnormal blistering of the skin; Abnormality of nail color; Autosomal dominant inheritance; Carious teeth; Epidermoid cyst; Hyperhidrosis; Ichthyosis; Nail dystrophy; Oral leukoplakia; Palmoplantar keratoderma; Skin plaque; Steatocystoma multiplex; Thick nailPalmoplantar keratoderma plus congenital ichthyosis
KRT8312q13.13100%gene with protein product602765KRTHB3Abnormal eyebrow morphology; Abnormality of metabolism/homeostasis; Abnormality of the eyelashes; Abnormality of the nail; Alopecia; Autosomal dominant inheritance; Brittle hair; Erythema; Fine hair; Follicular hyperkeratosis; Heterogeneous; Hypotrichosis; Infantile onset; Nail dysplasia; Nail dystrophy; Palmoplantar keratoderma; Patchy alopecia; Perifollicular hyperkeratosis; Skin plaque; Slow-growing hair; Variable expressivity
LOR1q21.3100%gene with protein product152445Autosomal dominant inheritance; Congenital nonbullous ichthyosiform erythroderma; Erythema; Honeycomb palmoplantar keratoderma; Hypergranulosis; Hyperkeratosis; Orthokeratosis; Palmoplantar keratoderma; Parakeratosis; Skin plaquePalmoplantar keratoderma plus congenital ichthyosis
TMC617q25.3100%gene with protein product605828EVER1Abnormality of metabolism/homeostasis; Basal cell carcinoma; Hypopigmented skin patches; Multiple cafe-au-lait spots; Papule; Pustule; Recurrent skin infections; Seborrheic dermatitis; Skin plaque; Verrucae
TMC817q25.3100%gene with protein product605829EVER2Abnormality of metabolism/homeostasis; Basal cell carcinoma; Hypopigmented skin patches; Multiple cafe-au-lait spots; Papule; Pustule; Recurrent skin infections; Seborrheic dermatitis; Skin plaque; Verrucae
TNFRSF1B1p36.22100%gene with protein product191191TNFR2Abnormal lymphocyte morphology; Alopecia; Cutaneous T-cell lymphoma; Dry skin; Eczema; Erythema; Erythroderma; Hepatomegaly; Hypopigmented skin patches; Immunodeficiency; Irregular hyperpigmentation; Lichenification; Lymphadenopathy; Nail dystrophy; Neoplasm of the skin; Palmoplantar keratoderma; Poikiloderma; Pruritus; Skin plaque; Skin rash; Splenomegaly


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