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
Short fourth metatarsal

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
DCHS111p15.4100%gene with protein product603057CDH25, PCDH16Age-dependent penetrance; Anal atresia; Anteriorly placed anus; Atresia of the external auditory canal; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharophimosis; Clinodactyly; Conductive hearing impairment; Congenital onset; Cortical gyral simplification; Cutaneous finger syndactyly; Dental malocclusion; Downturned corners of mouth; Epicanthus; Feeding difficulties; Generalized hypotonia; Growth delay; High palate; Hypertelorism; Hypoplasia of the corpus callosum; Hypoplasia of the maxilla; Hypospadias; Intellectual disability; Irregular dentition; Joint laxity; Malar flattening; Micrognathia; Microtia; Midface retrusion; Mitral regurgitation; Mitral valve prolapse; Narrow chest; Narrow forehead; Osteopenia; Pachygyria; Ptosis; Renal hypoplasia; Sacral dimple; Scoliosis; Sensorineural hearing impairment; Short 4th metacarpal; Short clavicles; Short fourth metatarsal; Short palpebral fissure; Skeletal dysplasia; Talipes equinovarus; Tented upper lip vermilion; Tracheomalacia; Wide anterior fontanel; Wide cranial sutures; Wide nasal bridge
EZH27q36.199.98%gene with protein product601573Abnormality of the fingernails; Abnormality of the metaphysis; Abnormally low-pitched voice; Absent septum pellucidum; Accelerated skeletal maturation; Autosomal dominant inheritance; Behavioral abnormality; Broad foot; Broad forehead; Broad thumb; Calcaneovalgus deformity; Camptodactyly; Camptodactyly of finger; Clinodactyly; Coxa valga; Cryptorchidism; Cutis laxa; Deep philtrum; Deep-set nails; Delayed speech and language development; Depressed nasal bridge; Diastasis recti; Dilation of lateral ventricles; Dimple chin; Downslanted palpebral fissures; Dysarthria; Dysharmonic bone age; Epicanthus; Feeding difficulties in infancy; Fine hair; Flared femoral metaphysis; Flared humeral metaphysis; Generalized hypotonia; Global developmental delay; Hoarse voice; Hydrocele testis; Hypertelorism; Hypertonia; Hypoplastic iliac wing; Hypoplastic toenails; Inguinal hernia; Intellectual disability; Inverted nipples; Joint contracture of the hand; Joint stiffness; Kyphosis; Large hands; Limited elbow extension; Limited knee extension; Long philtrum; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Mandibular prognathia; Metatarsus adductus; Micrognathia; Overlapping toe; Pes cavus; Prominent fingertip pads; Radial deviation of finger; Redundant skin; Retrognathia; Round face; Scoliosis; Seizures; Short fourth metatarsal; Short ribs; Slurred speech; Sparse hair; Spasticity; Strabismus; Talipes equinovarus; Tall stature; Thin nail; Umbilical hernia
FAT44q28.1100%gene with protein product612411Abnormality of dental morphology; Ascites; Atresia of the external auditory canal; Autosomal recessive inheritance; Bifid scrotum; Blepharophimosis; Broad forehead; Clinodactyly; Conductive hearing impairment; Congenital onset; Cryptorchidism; Cutaneous finger syndactyly; Decreased antibody level in blood; Delayed eruption of teeth; Dental malocclusion; Depressed nasal bridge; Downturned corners of mouth; Epicanthus; Erysipelas; External ear malformation; Feeding difficulties; Flat face; Generalized hypotonia; Gingival overgrowth; Glaucoma; Growth delay; High palate; Hypertelorism; Hypoplasia of the corpus callosum; Hypoplasia of the maxilla; Hypospadias; Increased number of teeth; Intellectual disability; Irregular dentition; Joint laxity; Low-set ears; Lymphadenopathy; Lymphangioma; Lymphedema; Lymphopenia; Malabsorption; Malar flattening; Micrognathia; Micropenis; Microtia; Midface retrusion; Mild postnatal growth retardation; Narrow chest; Narrow forehead; Osteopenia; Pericardial lymphangiectasia; Ptosis; Pulmonary lymphangiectasia; Recurrent respiratory infections; Reduced number of teeth; Renal hypoplasia; Sacral dimple; Scoliosis; Seizures; Sensorineural hearing impairment; Short 4th metacarpal; Short clavicles; Short fourth metatarsal; Short palpebral fissure; Skeletal dysplasia; Splenomegaly; Talipes equinovarus; Tented upper lip vermilion; Tracheomalacia; Wide anterior fontanel; Wide cranial sutures; Wide nasal bridgeDisorders of Sex Development
PEX76q23.3100%gene with protein product601757Abnormal pyramidal signs; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Alopecia; Anosmia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Calcific stippling of infantile cartilaginous skeleton; Cardiomegaly; Cardiomyopathy; Cataract; Cerebral cortical atrophy; Cleft palate; Congenital cataract; Congestive heart failure; Coronal cleft vertebrae; Delayed CNS myelination; Depressed nasal bridge; Developmental regression; Dry skin; Elevated levels of phytanic acid; Epiphyseal stippling; Flared metaphysis; Flat face; Flexion contracture; Frontal bossing; Hammertoe; Hemiplegia/hemiparesis; Hyporeflexia; Ichthyosis; Increased CSF protein; Intellectual disability; Intellectual disability, severe; Kyphoscoliosis; Limb muscle weakness; Malar flattening; Microcephaly; Micrognathia; Miosis; Multiple epiphyseal dysplasia; Muscular hypotonia; Nail dysplasia; Nyctalopia; Nystagmus; Peripheral neuropathy; Pes cavus; Ptosis; Respiratory insufficiency; Retinal degeneration; Retinopathy; Rhizomelia; Rod-cone dystrophy; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory impairment; Severe failure to thrive; Severe short stature; Short fourth metatarsal; Short metacarpal; Skeletal dysplasia; Skeletal muscle atrophy; Spasticity; Splenomegaly; Upslanted palpebral fissure; Visual impairmentPalmoplantar keratoderma plus congenital ichthyosis
PHYH10p1399.97%gene with protein product602026Abnormal pyramidal signs; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Anosmia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Cardiomegaly; Cardiomyopathy; Cataract; Congestive heart failure; Developmental regression; Dry skin; Elevated levels of phytanic acid; Hammertoe; Hemiplegia/hemiparesis; Hyporeflexia; Ichthyosis; Increased CSF protein; Intellectual disability, severe; Limb muscle weakness; Miosis; Multiple epiphyseal dysplasia; Muscular hypotonia; Nail dysplasia; Nyctalopia; Nystagmus; Peripheral neuropathy; Pes cavus; Ptosis; Retinal degeneration; Retinopathy; Rod-cone dystrophy; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory impairment; Short fourth metatarsal; Short metacarpal; Skeletal dysplasia; Skeletal muscle atrophy; Splenomegaly; Visual impairmentPalmoplantar keratoderma plus congenital ichthyosis


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