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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Place an e-order of this Slice on a specific patient through the GeneDx Portal  
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Phenotypes
Fingernail dysplasia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
GJA16q22.31100%gene with protein product121014ODDD, GJAL2-4 toe cutaneous syndactyly; 3-4 toe syndactyly; 4-5 finger syndactyly; Abnormal blistering of the skin; Abnormal cortical bone morphology; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the cerebral white matter; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the nasopharynx; Abnormality of the thorax; Absent middle phalanx of 5th finger; Alopecia; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the middle phalanges of the hand; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Bony paranasal bossing; Brachycephaly; Broad alveolar ridges; Broad columella; Broad long bones; Camptodactyly of finger; Carious teeth; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Club-shaped distal femur; Coarse facial features; Conductive hearing impairment; Congenital alopecia totalis; Congestive heart failure; Cranial hyperostosis; Craniofacial hyperostosis; Cubitus valgus; Curly hair; Cutaneous photosensitivity; Cyanosis; Delayed eruption of permanent teeth; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diabetes mellitus; Downslanted palpebral fissures; Dry hair; Dry skin; Dysarthria; Dystrophic fingernails; Epicanthus; Epidermal acanthosis; Erythema; External ear malformation; Facial hyperostosis; Facial palsy; Failure to thrive; Fifth finger distal phalanx clinodactyly; Fine hair; Finger syndactyly; Fingernail dysplasia; First degree atrioventricular block; Flared metaphysis; Fragile nails; Frontal bossing; Gait disturbance; Generalized hyperkeratosis; Glaucoma; High forehead; High hypermetropia; Hip dislocation; Hyperactive deep tendon reflexes; Hypergranulosis; Hypermelanotic macule; Hyperreflexia; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic aortic arch; Hypoplastic left heart; Hypotelorism; Hypotrichosis; Infantile onset; Inlet ventricular septal defect; Intellectual disability; Joint contracture of the 5th finger; Large earlobe; Long nose; Long philtrum; Low-set ears; Macrocephaly; Macrodontia of permanent maxillary central incisor; Mandibular prognathia; Median cleft lip; Metaphyseal dysplasia; Microcephaly; Microcornea; Microdontia; Micrognathia; Microphthalmia; Mild global developmental delay; Mixed hearing impairment; Muscle weakness; Myopia; Nail dysplasia; Narrow mouth; Narrow nasal bridge; Narrow nose; Nasal obstruction; Neurogenic bladder; Optic atrophy; Osteopetrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Paraparesis; Patchy palmoplantar keratoderma; Patchy sclerosis of finger phalanx; Persistent pupillary membrane; Phenotypic variability; Premature loss of primary teeth; Premature loss of teeth; Primum atrial septal defect; Pulmonary arterial hypertension; Reduced number of teeth; Seizures; Selective tooth agenesis; Short 5th finger; Short foot; Short middle phalanx of the 5th finger; Short nose; Short palpebral fissure; Short stature; Skeletal dysplasia; Skin rash; Slow-growing hair; Small hand; Sparse eyelashes; Sparse hair; Spastic paraparesis; Spasticity; Telecanthus; Tetraparesis; Thin anteverted nares; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Vertebral hyperostosis; Visual impairment; Weight loss; Wide nasal bridgeHeterotaxy ; Palmoplantar keratoderma plus congenital ichthyosis
LRP411p11.2100%gene with protein product6042702-3 finger syndactyly; Abnormal cortical bone morphology; Abnormality of the metacarpal bones; Abnormality of the nose; Absent fingernail; Absent toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital onset; Craniofacial hyperostosis; Curved distal phalanges of the hand; Cutaneous finger syndactyly; Diaphyseal thickening; Difficulty walking; Downslanted palpebral fissures; Facial palsy; Feeding difficulties; Finger syndactyly; Fingernail dysplasia; Frontal bossing; Hearing impairment; Hypertelorism; Hypoplasia of the radius; Hypoplasia of the ulna; Hyporeflexia; Increased bone mineral density; Macrocephaly; Mandibular prognathia; Micrognathia; Nail dysplasia; Prominent forehead; Ptosis; Radioulnar synostosis; Renal agenesis; Renal hypoplasia; Sensorineural hearing impairment; Short finger; Short thumb; Syndactyly; Synostosis of carpal bones; Tall stature; Toe syndactyly
NXN17p13.3100%gene with protein product612895Ankyloglossia; Anteverted nares; Bifid tongue; Brachydactyly; Broad hallux phalanx; Broad thumb; Chronic otitis media; Clinodactyly of the 5th finger; Cryptorchidism; Depressed nasal bridge; Disproportionate short-limb short stature; Downturned corners of mouth; Elbow dislocation; Epicanthus; Fingernail dysplasia; Frontal bossing; Gingival overgrowth; Hearing impairment; Hypertelorism; Hypoplasia of penis; Hypoplastic female external genitalia; Kyphosis; Long eyelashes; Long palpebral fissure; Long philtrum; Low-set, posteriorly rotated ears; Macrocephaly; Mesomelia; Micrognathia; Midface retrusion; Open bite; Pectus excavatum; Proptosis; Rib fusion; Scoliosis; Short distal phalanx of finger; Short nose; Tented upper lip vermilion; Umbilical hernia; Upslanted palpebral fissure; Vertebral segmentation defect; Wide mouth; Wide nasal bridge
ROR29q22.31100%gene with protein product602337NTRKR2, BDB, BDB12nd-5th toe middle phalangeal hypoplasia; Absent fingernail; Absent uvula; Ankyloglossia; Anonychia; Anteverted nares; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of the distal phalanges of the toes; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid distal phalanx of toe; Bifid tongue; Brachydactyly; Broad hallux phalanx; Broad thumb; Broad toe; Camptodactyly; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypoplasia; Cryptorchidism; Delayed cranial suture closure; Delayed eruption of permanent teeth; Delayed skeletal maturation; Dental crowding; Depressed nasal bridge; Disproportionate short-limb short stature; Downslanted palpebral fissures; Downturned corners of mouth; Duplication of the distal phalanx of hand; Elbow dislocation; Epicanthus; Fingernail dysplasia; Flat face; Frontal bossing; Gingival overgrowth; Global developmental delay; Hearing impairment; Hemivertebrae; Hydronephrosis; Hypertelorism; Hypoplasia of penis; Hypoplastic female external genitalia; Hypoplastic fingernail; Hypoplastic labia majora; Hypoplastic sacrum; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Kyphosis; Long eyelashes; Long palpebral fissure; Long philtrum; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Malar flattening; Mesomelia; Micrognathia; Micropenis; Midface retrusion; Missing ribs; Nevus flammeus; Open bite; Pectus excavatum; Posteriorly rotated ears; Proptosis; Radial deviation of finger; Renal duplication; Rib fusion; Right ventricular outlet obstruction; Scoliosis; Short distal phalanx of finger; Short foot; Short long bone; Short metacarpal; Short middle phalanx of finger; Short middle phalanx of the 5th finger; Short nose; Short palm; Syndactyly; Tented upper lip vermilion; Thin upper lip vermilion; Thoracic hemivertebrae; Thoracolumbar scoliosis; Triangular mouth; Type B brachydactyly; Umbilical hernia; Upslanted palpebral fissure; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Wide anterior fontanel; Wide mouth; Wide nasal bridgeDisorders of Sex Development
SOST17q21.31100%gene with protein product6057402-3 finger syndactyly; Abnormal cortical bone morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the nose; Abnormality of the ribs; Autosomal dominant inheritance; Autosomal recessive inheritance; Broad clavicles; Broad ribs; Choanal stenosis; Coarse facial features; Cognitive impairment; Concave nasal ridge; Conductive hearing impairment; Constriction of peripheral visual field; Cortically dense long tubular bones; Cranial hyperostosis; Cranial nerve paralysis; Craniofacial hyperostosis; Craniofacial osteosclerosis; Curved distal phalanges of the hand; Dental malocclusion; Depressed nasal bridge; Deviation of finger; Diaphyseal sclerosis; Diaphyseal thickening; Elevated alkaline phosphatase; Elevated circulating parathyroid hormone level; Esotropia; Facial diplegia; Facial palsy; Facial palsy secondary to cranial hyperostosis; Fingernail dysplasia; Frontal bossing; Generalized osteosclerosis; Headache; Hearing impairment; Hypertelorism; Increased bone mineral density; Increased intracranial pressure; Infantile onset; Intellectual disability; Macrocephaly; Malar flattening; Mandibular prognathia; Midface retrusion; Nail dysplasia; Nystagmus; Optic atrophy; Optic atrophy from cranial nerve compression; Overgrowth; Papilledema; Progressive; Progressive visual loss; Proptosis; Ptosis; Sclerotic scapulae; Sclerotic vertebral endplates; Sensorineural hearing impairment; Short stature; Stenosis of the external auditory canal; Sudden death; Tall stature; Thickened cortex of long bones; Thickened ribs; Visual loss; Wide nasal bridge
TFAP2A6p24.399.95%gene with protein product107580TFAP2, AP2TFAbnormality of the dentition; Abnormality of the pinna; Agenesis of cerebellar vermis; Anophthalmia; Aplasia cutis congenita; Atypical scarring of skin; Autosomal dominant inheritance; Branchial anomaly; Broad nasal tip; Cataract; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Deep philtrum; Depressed nasal bridge; Dermal atrophy; Dolichocephaly; Duplication of internal organs; Ectopic thymus tissue; Elbow flexion contracture; Everted lower lip vermilion; Fingernail dysplasia; Fusion of middle ear ossicles; Gastroesophageal reflux; Hamartoma; Hemangioma; High palate; Hyperlordosis; Hypertelorism; Hypoplastic fingernail; Hypoplastic superior helix; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Iris coloboma; Kyphosis; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lower lip pit; Malar flattening; Malrotation of colon; Microcephaly; Microdontia; Micrognathia; Microphthalmia; Microtia; Myopia; Nasal speech; Nasolacrimal duct obstruction; Neurological speech impairment; Non-midline cleft lip; Nystagmus; Overfolded helix; Postauricular pit; Posteriorly rotated ears; Preauricular pit; Preaxial hand polydactyly; Premature graying of hair; Proximal placement of thumb; Ptosis; Pyloric stenosis; Reduced number of teeth; Renal agenesis; Renal cyst; Retinal coloboma; Seizures; Sensorineural hearing impairment; Short nasal septum; Short neck; Short stature; Short thumb; Single transverse palmar crease; Small forehead; Strabismus; Supernumerary nipple; Supraauricular pit; Telecanthus; Upslanted palpebral fissure; White forelock; Wide intermamillary distance; Wide nasal bridge
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


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