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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Phenotypes
Villous atrophy

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADAM172p25.199.99%gene with protein product603639TACEAutosomal recessive inheritance; Blepharitis; Eosinophilia; Erythema; Erythroderma; Hematochezia; Paronychia; Pustule; Thick nail; Villous atrophyInflammatory Bowel Disease ; Palmoplantar keratoderma plus congenital ichthyosis
ALG33q27.1100%gene with protein product608750Abnormality of vision; Adducted thumb; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Bifid uvula; Bulbous nose; Cerebellar atrophy; Cerebral atrophy; Clinodactyly of the 5th toe; Decreased light- and dark-adapted electroretinogram amplitude; Depressed nasal bridge; Diarrhea; Epicanthus; Failure to thrive; Food intolerance; Global developmental delay; High palate; Hyperreflexia; Hypertonia; Hypsarrhythmia; Iris coloboma; Joint contracture of the hand; Long fingers; Macrotia; Microcephaly; Muscular hypotonia; Muscular hypotonia of the trunk; Nail dysplasia; Optic atrophy; Seizures; Severe visual impairment; Small nail; Strabismus; Talipes equinovarus; Type I transferrin isoform profile; Villous atrophy; Vomiting; Wide nasal bridge
CIITA16p13.13100%gene with protein product600005MHC2TAAgammaglobulinemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Biliary tract abnormality; Chronic lymphocytic meningitis; Chronic mucocutaneous candidiasis; Colitis; Cutaneous anergy; Encephalitis; Failure to thrive; Malabsorption; Neutropenia; Panhypogammaglobulinemia; Protracted diarrhea; Recurrent bacterial infections; Recurrent fungal infections; Recurrent lower respiratory tract infections; Recurrent protozoan infections; Recurrent upper respiratory tract infections; Recurrent urinary tract infections; Recurrent viral infections; Villous atrophy; Viral hepatitis
EPCAM2p2199.97%gene with protein product185535M4S1, MIC18, TACSTD1Abdominal pain; Anxiety; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Failure to thrive; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hereditary nonpolyposis colorectal carcinoma; Hypertonia; Increased intracranial pressure; Intractable diarrhea; Irritability; Malabsorption; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Seizures; Villous atrophy; Weight loss
FOXP3Xp11.23100%gene with protein product300292IPEXAutoimmune hemolytic anemia; Diarrhea; Eczema; Eosinophilia; Hypothyroidism; Ileus; Immune dysregulation; Lymphadenopathy; Thrombocytopenia; Type I diabetes mellitus; Variable expressivity; Villous atrophy; X-linked recessive inheritanceAutoimmune Disorders ; Inflammatory Bowel Disease ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
IL2RA10p15.1100%gene with protein product147730IL2R, IDDM10Alopecia; Antinuclear antibody positivity; Apraxia; Arthralgia; Autoimmune hemolytic anemia; Autosomal recessive inheritance; Chronic diarrhea; Decrease in T cell count; Dental malocclusion; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Hepatomegaly; Hepatosplenomegaly; IgA deficiency; Immunodeficiency; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Lymphadenopathy; Polyarticular arthritis; Recurrent bacterial infections; Recurrent fungal infections; Recurrent respiratory infections; Recurrent viral infections; Splenomegaly; Villous atrophyAutoimmune Disorders ; Inflammatory Bowel Disease
MPI15q24.1100%gene with protein product154550Abnormal bleeding; Abnormal thrombosis; Autosomal recessive inheritance; Cirrhosis; Congenital hepatic fibrosis; Diarrhea; Failure to thrive; Generalized hypotonia; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hyperinsulinemic hypoglycemia; Hypoalbuminemia; Hypoglycemia; Lymphedema; Malabsorption; Protein-losing enteropathy; Reduced antithrombin III activity; Reduced factor XI activity; Type I transferrin isoform profile; Villous atrophy; Vomiting
MYO5B18q99.98%gene with protein product606540Abdominal distention; Abnormal renal physiology; Autosomal recessive inheritance; Death in infancy; Dehydration; Diarrhea; Global developmental delay; Growth delay; Hypovolemia; Malnutrition; Metabolic acidosis; Nephrocalcinosis; Protracted diarrhea; Pruritus; Villous atrophyInflammatory Bowel Disease
MYO5B18q99.98%gene with protein product606540Abdominal distention; Abnormal renal physiology; Autosomal recessive inheritance; Death in infancy; Dehydration; Diarrhea; Global developmental delay; Growth delay; Hypovolemia; Malnutrition; Metabolic acidosis; Nephrocalcinosis; Protracted diarrhea; Pruritus; Villous atrophyInflammatory Bowel Disease
PCSK15q1599.95%gene with protein product162150NEC1Central adrenal insufficiency; Childhood-onset truncal obesity; Cholestasis; Decreased circulating cortisol level; Diarrhea; Hypogonadotrophic hypogonadism; Hypopigmentation of the skin; Increased adipose tissue; Malabsorption; Obesity; Phenotypic variability; Polyphagia; Primary amenorrhea; Reactive hypoglycemia; Red hair; Sporadic; Villous atrophyObesity
RFX51q21.3100%gene with protein product601863Agammaglobulinemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Biliary tract abnormality; Chronic lymphocytic meningitis; Chronic mucocutaneous candidiasis; Colitis; Cutaneous anergy; Encephalitis; Failure to thrive; Malabsorption; Neutropenia; Panhypogammaglobulinemia; Protracted diarrhea; Recurrent bacterial infections; Recurrent fungal infections; Recurrent lower respiratory tract infections; Recurrent protozoan infections; Recurrent upper respiratory tract infections; Recurrent urinary tract infections; Recurrent viral infections; Villous atrophy; Viral hepatitisAutoimmune Disorders
RFXANK19p13.11100%gene with protein product603200Agammaglobulinemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Biliary tract abnormality; Chronic lymphocytic meningitis; Chronic mucocutaneous candidiasis; Colitis; Cutaneous anergy; Encephalitis; Failure to thrive; Malabsorption; Neutropenia; Panhypogammaglobulinemia; Protracted diarrhea; Recurrent bacterial infections; Recurrent fungal infections; Recurrent lower respiratory tract infections; Recurrent protozoan infections; Recurrent upper respiratory tract infections; Recurrent urinary tract infections; Recurrent viral infections; Villous atrophy; Viral hepatitisAutoimmune Disorders
RFXAP13q13.3100%gene with protein product601861Agammaglobulinemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Biliary tract abnormality; Chronic lymphocytic meningitis; Chronic mucocutaneous candidiasis; Colitis; Cutaneous anergy; Encephalitis; Failure to thrive; Malabsorption; Neutropenia; Panhypogammaglobulinemia; Protracted diarrhea; Recurrent bacterial infections; Recurrent fungal infections; Recurrent lower respiratory tract infections; Recurrent protozoan infections; Recurrent upper respiratory tract infections; Recurrent urinary tract infections; Recurrent viral infections; Villous atrophy; Viral hepatitisAutoimmune Disorders
SKIV2L6p21.33100%gene with protein product600478SKIV2Autosomal recessive inheritance; Brittle hair; Cirrhosis; Colitis; Diarrhea; Failure to thrive; Hepatitis; Hepatomegaly; Hypertelorism; Immunodeficiency; Intrauterine growth retardation; Pili canaliculi; Prominent forehead; Small for gestational age; Sparse hair; Trichorrhexis nodosa; Uncombable hair; Villous atrophy; Wide nose; Woolly hairInflammatory Bowel Disease
SPINK55q32100%gene with protein product605010Abnormality of the musculature; Acanthosis nigricans; Allergic rhinitis; Angioedema; Asthma; Autosomal dominant inheritance; Autosomal recessive inheritance; Brittle hair; Congenital nonbullous ichthyosiform erythroderma; Decreased antibody level in blood; Eczema; Emphysema; Erythroderma; Failure to thrive; Fine hair; Global developmental delay; Hypernatremic dehydration; Increased IgE level; Intellectual disability; Irregular hyperpigmentation; Malabsorption; Recurrent infections; Recurrent respiratory infections; Seizures; Sparse and thin eyebrow; Sparse scalp hair; Trichorrhexis nodosa; Urticaria; Villous atrophyPalmoplantar keratoderma plus congenital ichthyosis
STAT12q32.2100%gene with protein product600555Autoimmune hemolytic anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; B lymphocytopenia; Bronchiectasis; Carotid artery dilatation; Chronic mucocutaneous candidiasis; Delayed puberty; Delayed skeletal maturation; Diarrhea; Dilatation of the cerebral artery; Eczema; Enterocolitis; Functional abnormality of the bladder; Generalized osteoporosis; Hepatosplenomegaly; Herpes simplex encephalitis; Immune dysregulation; Immunodeficiency; Incomplete penetrance; Lymphopenia; Osteopenia; Phenotypic variability; Primary hypothyroidism; Recurrent mycobacterial infections; Recurrent respiratory infections; Recurrent upper respiratory tract infections; Renal artery stenosis; Renovascular hypertension; Short stature; Susceptibility to herpesvirus; Thyroiditis; Type I diabetes mellitus; Villous atrophyAutoimmune Disorders ; Inflammatory Bowel Disease
STX311q12.1100%gene with protein product600876STX3AAbdominal distention; Abnormal renal physiology; Dehydration; Diarrhea; Global developmental delay; Hypovolemia; Metabolic acidosis; Nephrocalcinosis; Pruritus; Villous atrophy
TTC375q15100%gene with protein product614589KIAA0372Abnormality of iron homeostasis; Abnormality of the immune system; Abnormality of the pancreas; Anteverted nares; Autosomal recessive inheritance; Bifid uvula; Brittle hair; Cholestasis; Cirrhosis; Cognitive impairment; Curly hair; Depressed nasal ridge; Diarrhea; Downslanted palpebral fissures; Failure to thrive; Fine hair; Frontal bossing; Galactosuria; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hypermethioninemia; Hypertelorism; Hypoalbuminemia; Intractable diarrhea; Intrauterine growth retardation; Jaundice; Large placenta; Long philtrum; Low-set ears; Microtia; Narrow mouth; Polyhydramnios; Prominent forehead; Proptosis; Renal cortical microcysts; Short stature; Small for gestational age; Sparse hair; Trichorrhexis nodosa; Underdeveloped supraorbital ridges; Villous atrophy; Wide mouth; Wide nose; Woolly hairInflammatory Bowel Disease


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