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  
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Phenotypes
Absent fingernail

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
APC5q22.2100%gene with protein productPromoter/regulatory variants are not captured by XomeDxSlice. Please see our oncology genetics test menu for additional options: https://www.genedx.com/test-catalog/medical-specialty/oncology/611731Abdominal pain; Abnormality of retinal pigmentation; Abnormality of the abdominal wall; Abnormality of the metacarpal bones; Abnormality of the musculature; Absent fingernail; Absent toenail; Adenomatous colonic polyposis; Adrenocortical carcinoma; Astrocytoma; Autosomal dominant inheritance; Colon cancer; Desmoid tumors; Downslanted palpebral fissures; Epidermoid cyst; Finger syndactyly; Frontal bossing; Hepatocellular carcinoma; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; Hyperpigmentation of the skin; Hypertelorism; Hypoplasia of the radius; Hypoplasia of the ulna; Increased level of L-fucose in urine; Intestinal polyposis; Keloids; Malabsorption; Micronodular cirrhosis; Multiple gastric polyps; Multiple lipomas; Myalgia; Neoplasm of the stomach; Odontoma; Radioulnar synostosis; Renal cell carcinoma; Short thumb; Small intestine carcinoid; Somatic mutation; Stomach cancer; Subacute progressive viral hepatitis; Subcutaneous nodule; Synostosis of carpal bones; Toe syndactyly; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma; Variable expressivity
BCR22q11.2399.83%gene with protein product151410D22S11, BCR1Abnormality of basophils; Abnormality of earlobe; Absent fingernail; Absent toenail; Acute lymphoblastic leukemia; Chronic myelogenous leukemia; Clinodactyly of the 5th finger; Deeply set eye; Fatigue; Fever; Global developmental delay; Highly arched eyebrow; Intellectual disability; Intrauterine growth retardation; Language impairment; Leukocytosis; Microcephaly; Myeloproliferative disorder; Neoplasm; Pes planus; Ph-positive acute lymphoblastic leukemia; Pointed chin; Polygenic inheritance; Poor appetite; Premature birth; Short stature; Smooth philtrum; Somatic mutation; Splenomegaly; Thin upper lip vermilion; Thrombocytopenia; Thrombocytosis; Truncus arteriosus; Underdeveloped nasal alae
COL7A13p21.31100%gene with protein product120120EBDCT, EBD1, EBR1Abnormal blistering of the skin; Abnormal toenail morphology; Abnormality of metabolism/homeostasis; Abnormality of the anus; Abnormality of the fingernails; Abnormality of the vagina; Absent fingernail; Absent toenail; Alopecia; Anemia; Ankyloglossia; Aplasia cutis congenita; Atrophic scars; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Carious teeth; Cataract; Cheilitis; Congenital localized absence of skin; Congenital onset; Conjunctivitis; Constipation; Corneal erosion; Corneal scarring; Delayed puberty; Dermal atrophy; Dysphagia; Dystrophic fingernails; Dystrophic toenail; Ectropion; Esophageal stricture; Flexion contracture; Fragile skin; Growth delay; Hyperkeratosis; Hypopigmented skin patches; Hypoplasia of dental enamel; Loss of eyelashes; Malnutrition; Microglossia; Milia; Mitten deformity; Nail dysplasia; Nail dystrophy; Narrow mouth; Oral mucosal blisters; Osteopenia; Osteoporosis; Papule; Pretibial blistering; Progressive visual loss; Pruritus; Refractory anemia; Scarring alopecia of scalp; Skin erosion; Skin nodule; Skin vesicle; Spontaneous esophageal perforation; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Thin skin; Tongue atrophy
CRKL22q11.21100%gene with protein product602007Abnormality of earlobe; Absent fingernail; Absent toenail; Clinodactyly of the 5th finger; Deeply set eye; Global developmental delay; Highly arched eyebrow; Intellectual disability; Intrauterine growth retardation; Language impairment; Microcephaly; Neoplasm; Pes planus; Pointed chin; Premature birth; Short stature; Smooth philtrum; Thin upper lip vermilion; Truncus arteriosus; Underdeveloped nasal alae
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
MAPK122q11.22100%gene with protein product176948PRKM2, PRKM1Abnormality of earlobe; Absent fingernail; Absent toenail; Clinodactyly of the 5th finger; Deeply set eye; Global developmental delay; Highly arched eyebrow; Intellectual disability; Intrauterine growth retardation; Language impairment; Microcephaly; Neoplasm; Pes planus; Pointed chin; Premature birth; Short stature; Smooth philtrum; Thin upper lip vermilion; Truncus arteriosus; Underdeveloped nasal alae
MMP111q22.2100%gene with protein product120353CLGAbnormal blistering of the skin; Abnormality of the anus; Absent fingernail; Absent toenail; Ankyloglossia; Blepharitis; Carious teeth; Chronic obstructive pulmonary disease; Constipation; Corneal erosion; Delayed puberty; Dermal atrophy; Dysphagia; Ectropion; Esophageal stricture; Flexion contracture; Loss of eyelashes; Milia; Mitten deformity; Narrow mouth; Osteopenia; Osteoporosis; Progressive visual loss; Pruritus; Refractory anemia; Scarring alopecia of scalp; Squamous cell carcinoma of the skinHeterotaxy
NOG17q22100%gene with protein product602991SYNS1, SYM12-3 toe syndactyly; Abnormal vertebral morphology; Abnormality of the ankles; Absent distal interphalangeal creases; Absent distal phalanges; Absent fingernail; Absent phalangeal crease; Anonychia; Aplasia/Hypoplasia of the distal phalanges of the hand; Aplasia/Hypoplasia of the distal phalanges of the toes; Aplasia/Hypoplasia of the middle phalanges of the hand; Aplasia/Hypoplasia of the middle phalanges of the toes; Aplasia/Hypoplasia of the nails; Aplastic/hypoplastic toenail; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Brachydactyly; Broad hallux; Broad thumb; Camptodactyly of finger; Carpal synostosis; Clinodactyly; Conductive hearing impairment; Cone-shaped epiphysis; Congenital stapes ankylosis; Cubitus valgus; Cutaneous finger syndactyly; Cutaneous syndactyly of toes; Dislocated radial head; Elbow ankylosis; Elbow dislocation; Enlargement of the costochondral junction; Finger syndactyly; Fusion of midphalangeal joints; Hypermetropia; Hypoplastic nasal septum; Hypoplastic spinal processes; Joint stiffness; Long nose; Low hanging columella; Lower limb undergrowth; Metacarpophalangeal synostosis; Narrow face; Pectus excavatum; Progressive conductive hearing impairment; Progressive fusion 2nd-5th pip joints; Proximal placement of thumb; Proximal symphalangism; Proximal symphalangism of hands; Proximal/middle symphalangism of 5th finger; Radial deviation of finger; Sensorineural hearing impairment; Short 1st metacarpal; Short 5th metacarpal; Short distal phalanx of finger; Short distal phalanx of toe; Short finger; Short foot; Short hallux; Short humerus; Short lower limbs; Short palm; Short philtrum; Short stature; Short sternum; Single transverse palmar crease; Spinal canal stenosis; Stapes ankylosis; Strabismus; Symphalangism affecting the phalanges of the hand; Synostosis of carpal bones; Tarsal synostosis; Thick upper lip vermilion; Thin upper lip vermilion; Toe syndactyly; Type B brachydactyly; Underdeveloped nasal alae; Waddling gait
PORCNXp11.2399.99%gene with protein product300651DHOFAbnormal palmar dermatoglyphics; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of epiphysis morphology; Abnormality of skin pigmentation; Abnormality of the larynx; Abnormality of the middle ear; Abnormality of the nail; Abnormality of the pinna; Absent fingernail; Absent toenail; Agenesis of corpus callosum; Alopecia; Aniridia; Anophthalmia; Anteriorly placed anus; Arnold-Chiari malformation; Bifid ureter; Brachydactyly; Brittle hair; Broad nasal tip; Camptodactyly of finger; Chorioretinal coloboma; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypoplasia; Cognitive impairment; Congenital diaphragmatic hernia; Congenital hip dislocation; Corneal opacity; Cryptorchidism; Delayed eruption of teeth; Dental malocclusion; Dermal atrophy; Diastasis recti; Ectopia lentis; Erythema; Facial asymmetry; Finger syndactyly; Foot oligodactyly; Foot polydactyly; Hand oligodactyly; Hand polydactyly; Hearing impairment; Hiatus hernia; Horseshoe kidney; Hydrocephalus; Hydronephrosis; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the iris; Hypoplastic nipples; Hypoplastic pelvis; Inguinal hernia; Intellectual disability; Intestinal malrotation; Iris coloboma; Joint laxity; Labial hypoplasia; Linear hyperpigmentation; Low-set ears; Lower limb asymmetry; Macule; Microcephaly; Microphthalmia; Midclavicular aplasia; Midclavicular hypoplasia; Mixed hearing impairment; Multicystic kidney dysplasia; Myelomeningocele; Nail dysplasia; Nail dystrophy; Narrow nasal bridge; Nystagmus; Oligodontia; Omphalocele; Open bite; Optic atrophy; Osteopathia striata; Papilloma; Patchy alopecia; Pointed chin; Postaxial hand polydactyly; Reduced number of teeth; Reduced visual acuity; Reticular hyperpigmentation; Rough bone trabeculation; Scoliosis; Short clavicles; Short finger; Short metacarpal; Short metatarsal; Short phalanx of finger; Short ribs; Short stature; Sparse hair; Spina bifida; Spina bifida occulta; Split foot; Split hand; Stenosis of the external auditory canal; Strabismus; Subcutaneous nodule; Supernumerary nipple; Telangiectasia; Telangiectasia of the skin; Thin skin; Toe syndactyly; Umbilical hernia; Upper limb asymmetry; Ureteral duplication; Visual impairment; X-linked dominant inheritanceEctodermal Dysplasia
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


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