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"

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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
Thick nail

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
CTSC11q14.2100%gene with protein product602365PLS, PALSAbnormality of the fingernails; Abnormality of the skin; Arachnodactyly; Atrophy of alveolar ridges; Autosomal recessive inheritance; Cerebral calcification; Choroid plexus calcification; Chronic furunculosis; Congenital palmoplantar keratosis; Gingival recession; Gingivitis; Heterogeneous; Nail dystrophy; Osteolytic defects of the phalanges of the hand; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Pes planus; Premature loss of primary teeth; Premature loss of teeth; Pustule; Recurrent bacterial skin infections; Recurrent cutaneous abscess formation; Recurrent respiratory infections; Reduced number of teeth; Severe periodontitis; Tapering pointed ends of distal finger phalanges; Thick nailPalmoplantar keratoderma plus congenital ichthyosis
GJB613q12.11100%gene with protein product604418DFNA3, ED2Abnormality of nail color; Abnormality of the dentition; Abnormality of the eyelashes; Absent axillary hair; Absent pubic hair; Adult onset sensorineural hearing impairment; Alopecia; Alopecia totalis; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Brittle hair; Cataract; Conductive hearing impairment; Conjunctivitis; Corneal neovascularization; Digenic inheritance; Dilatated internal auditory canal; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Erythema; Fine hair; Fragile nails; Furrowed tongue; Generalized hyperkeratosis; Generalized hyperpigmentation; Hearing impairment; Hyperconvex nail; Hyperpigmentation of the skin; Hypohidrosis; Hypoplastic fingernail; Hypoplastic toenails; Hypotrichosis; Ichthyosis; Irregular hyperpigmentation; Keratitis; Macule; Nail dysplasia; Nail dystrophy; Onycholysis; Oral leukoplakia; Osteolysis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Photophobia; Progressive sensorineural hearing impairment; Recurrent bacterial skin infections; Sensorineural hearing impairment; Short stature; Skin ulcer; Slow-growing hair; Small nail; Sparse and thin eyebrow; Sparse axillary hair; Sparse eyelashes; Sparse hair; Sparse pubic hair; Sparse scalp hair; Stapes ankylosis; Strabismus; Thick nail; Variable expressivity; Visual impairment; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
IKBKGXq2825.01%gene with protein productLow coverage on XomeDxSlice due to pseudogene. Please see our test menu for analysis of IKBKG with alternate methods: http://www.genedx.com/test-catalog/disorders/incontinentia-pigmenti-ip/300248IP2, IP1, NEMOAbnormal blistering of the skin; Abnormal hand morphology; Abnormality of dental morphology; Abnormality of skin pigmentation; Alopecia; Asymmetric growth; Atrophic, patchy alopecia; Attention deficit hyperactivity disorder; Breast aplasia; Breast hypoplasia; Camptodactyly of finger; Cataract; Coarse hair; Conical incisor; Corneal opacity; Delayed eruption of teeth; Deviation of finger; Dry skin; Dysgammaglobulinemia; Ectodermal dysplasia; Eosinophilia; Erythema; Fine hair; Frontal bossing; Gait disturbance; Hearing abnormality; Hemivertebrae; Hyperhidrosis; Hyperkeratosis; Hypodontia; Hypopigmented skin patches; Hypoplasia of the fovea; Hypoplastic fingernail; Hypoplastic nipples; IgA deficiency; IgG deficiency; Immunodeficiency; Impaired memory B cell generation; Increased IgM level; Intellectual disability; Irregular hyperpigmentation; Keratitis; Kyphoscoliosis; Lymphedema; Microcephaly; Microphthalmia; Nail dysplasia; Nail dystrophy; Nail pits; Optic atrophy; Oral cleft; Osteolysis; Osteopetrosis; Recurrent bacterial infections; Recurrent infections; Recurrent mycobacterium avium complex infections; Recurrent streptococcus pneumoniae infections; Retinal detachment; Retinal hemorrhage; Retinal vascular proliferation; Ridged nail; Scarring; Scoliosis; Seizures; Short stature; Skin rash; Skin ulcer; Sparse hair; Spasticity; Strabismus; Supernumerary nipple; Supernumerary ribs; Telangiectasia of the skin; Thick nail; Uveitis; Verrucae; Visual impairment; X-linked dominant inheritance; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
INSR19p13.2100%gene with protein product147670Abdominal distention; Abnormal C-peptide level; Abnormal facial shape; Abnormality of the abdominal wall; Abnormality of the thyroid gland; Acanthosis nigricans; Accelerated skeletal maturation; Adipose tissue loss; Advanced eruption of teeth; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Cachexia; Cholestasis; Clitoral hypertrophy; Coarse facial features; Coarse hair; Cognitive impairment; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Diabetes mellitus; Diabetic ketoacidosis; Dry skin; Elfin facies; Fasting hyperinsulinemia; Fasting hypoglycemia; Fatigue; Feeding difficulties in infancy; Female pseudohermaphroditism; Generalized hirsutism; Generalized hyperpigmentation; Gingival overgrowth; Global developmental delay; Growth hormone excess; Gynecomastia; Hearing abnormality; Hepatic fibrosis; Heterogeneous; High palate; High, narrow palate; Hyperglycemia; Hyperinsulinemia; Hyperinsulinemic hypoglycemia; Hyperkeratosis; Hypermelanotic macule; Hypertelorism; Hypertrichosis; Hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Inguinal hernia; Insulin-resistant diabetes mellitus; Intrauterine growth retardation; Large hands; Lipoatrophy; Long foot; Long penis; Low-set ears; Low-set, posteriorly rotated ears; Macrotia; Mandibular prognathia; Nail dysplasia; Onychauxis; Ovarian cyst; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Postnatal growth retardation; Postprandial hyperglycemia; Precocious puberty; Prematurely aged appearance; Prominent nipples; Proptosis; Proteinuria; Recurrent hypoglycemia; Recurrent infections; Recurrent respiratory infections; Seizures; Severe failure to thrive; Short stature; Skeletal muscle atrophy; Small face; Small for gestational age; Subcutaneous nodule; Thick lower lip vermilion; Thick nail; Thick nasal alae; Thickened nuchal skin fold; Type II diabetes mellitus; Umbilical hernia; Wide mouthObesity
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
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
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
KRT512q13.13100%gene with protein product148040EBS2Abnormal blistering of the skin; Abnormal pattern of respiration; Abnormality of dental enamel; Abnormality of skin pigmentation; Abnormality of the nail; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Congenital onset; Dermal atrophy; Discrete 2 to 5-mm hyper- and hypopigmented macules; Erythema; Generalized hyperkeratosis; Growth delay; Hyperhidrosis; Hypopigmented skin patches; Milia; Mottled pigmentation of the trunk and proximal extremities; Nail dysplasia; Nail dystrophy; Neonatal onset; Ophthalmoparesis; Oral leukoplakia; Palmoplantar blistering; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Prematurely aged appearance; Progressive reticulate hyperpigmentation; Ptosis; Punctate palmoplantar hyperkeratosis; Recurrent skin infections; Reticulated skin pigmentation; Ridged nail; Skin rash; Skin vesicle; Subcutaneous hemorrhage; Thick nail; Variable expressivityPalmoplantar keratoderma plus congenital ichthyosis
KRT512q13.13100%gene with protein product148040EBS2Abnormal blistering of the skin; Abnormal pattern of respiration; Abnormality of dental enamel; Abnormality of skin pigmentation; Abnormality of the nail; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Congenital onset; Dermal atrophy; Discrete 2 to 5-mm hyper- and hypopigmented macules; Erythema; Generalized hyperkeratosis; Growth delay; Hyperhidrosis; Hypopigmented skin patches; Milia; Mottled pigmentation of the trunk and proximal extremities; Nail dysplasia; Nail dystrophy; Neonatal onset; Ophthalmoparesis; Oral leukoplakia; Palmoplantar blistering; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Prematurely aged appearance; Progressive reticulate hyperpigmentation; Ptosis; Punctate palmoplantar hyperkeratosis; Recurrent skin infections; Reticulated skin pigmentation; Ridged nail; Skin rash; Skin vesicle; Subcutaneous hemorrhage; Thick nail; Variable expressivityPalmoplantar 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
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
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
TP633q28100%gene with protein product603273TP73L, TP53L, TP53CP2-3 toe syndactyly; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the anus; Abnormality of the clitoris; Abnormality of the nasopharynx; Abnormality of the nervous system; Absence of Stensen duct; Absent eyelashes; Absent lacrimal punctum; Absent nipple; Adermatoglyphia; Alopecia; Alopecia of scalp; Anhidrosis; Anhidrotic ectodermal dysplasia; Ankyloblepharon; Anonychia; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the phalanges of the toes; Aplasia/Hypoplasia of the skin; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Bladder diverticulum; Bladder exstrophy; Blepharitis; Blepharophimosis; Blue irides; Breast hypoplasia; Camptodactyly; Carious teeth; Central diabetes insipidus; Choanal atresia; Cleft palate; Cleft upper lip; Coarse hair; Conductive hearing impairment; Conical tooth; Conjunctivitis; Corneal erosion; Cryptorchidism; Cutaneous photosensitivity; Dacryocystitis; Decreased number of sweat glands; Depressed nasal bridge; Depressed nasal tip; Dermal atrophy; Dry skin; Duplicated collecting system; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Ectrodactyly; Eczema; Epispadias; Fair hair; Fine hair; Finger syndactyly; Fingernail dysplasia; Freckling; Generalized hyperpigmentation; Generalized hypopigmentation; Growth hormone deficiency; Hallux valgus; Hearing impairment; High forehead; Hydronephrosis; Hydroureter; Hyperconvex fingernails; Hyperconvex nail; Hyperkeratosis; Hyperpigmentation of the skin; Hypodontia; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of penis; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Hypotrichosis; Inguinal hernia; Joint contracture of the hand; Keratitis; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Melanocytic nevus; Microdontia; Micrognathia; Micropenis; Microtia; Nail dysplasia; Nail dystrophy; Nail pits; Narrow mouth; Narrow nose; Nasolacrimal duct obstruction; Non-midline cleft lip; Oligodactyly; Oligodontia; Oral cleft; Oval face; Palmoplantar keratoderma; Patchy alopecia; Patent ductus arteriosus; Phenotypic variability; Photophobia; Pili canaliculi; Premature loss of permanent teeth; Progressive alopecia; Ptosis; Recurrent otitis media; Recurrent urinary tract infections; Reduced number of teeth; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Selective tooth agenesis; Short stature; Skin ulcer; Slow-growing hair; Small nail; Small, conical teeth; Sparse and thin eyebrow; Sparse axillary hair; Sparse body hair; Sparse eyelashes; Sparse hair; Sparse pubic hair; Sparse scalp hair; Split foot; Split hand; Submucous cleft hard palate; Submucous cleft soft palate; Supernumerary nipple; Syndactyly; Taurodontia; Thick eyebrow; Thick nail; Thin skin; Toe syndactyly; Toenail dysplasia; Transverse vaginal septum; Triphalangeal thumb; Umbilical hernia; Underdeveloped nasal alae; Ureterocele; Urethral atresia; Vaginal dryness; Velopharyngeal insufficiency; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge; Widely spaced teeth; XerostomiaEctodermal Dysplasia
ZSWIM65q12.197.28%gene with protein product615951Agenesis of corpus callosum; Autosomal dominant inheritance; Bifid nose; Brachycephaly; Broad nasal tip; Choroid plexus cyst; Cleft palate; Cleft upper lip; Encephalocele; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability; Large sella turcica; Meningocele; Preaxial polydactyly; Retrocerebellar cyst; Seizures; Syndactyly; Talipes equinovarus; Telecanthus; Thick nail; Thick nasal alae; Ventriculomegaly


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