XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Multiple epiphyseal dysplasia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
COL9A16q1399.94%gene with protein product120210Abnormality of epiphysis morphology; Abnormality of the knee; Amblyopia; Arthralgia; Arthralgia of the hip; Astigmatism; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Childhood onset; Cleft palate; Degenerative vitreoretinopathy; Epiphyseal dysplasia; Flat capital femoral epiphysis; Flat distal femoral epiphysis; Flat face; Gait disturbance; Genu valgum; High myopia; Hip dysplasia; Irregular distal femoral epiphysis; Irregular epiphyses; Irregular vertebral endplates; Joint hyperflexibility; Limitation of joint mobility; Malar flattening; Micrognathia; Micromelia; Multiple epiphyseal dysplasia; Myopia; Osteoarthritis; Platyspondyly; Retinal detachment; Sensorineural hearing impairment; Short stature; Small epiphyses; Vitreoretinal degeneration
EIF2AK32p11.299.85%gene with protein product604032Abnormal heart morphology; Abnormality of the metaphysis; Acute hepatic failure; Autosomal recessive inheritance; Barrel-shaped chest; Brachydactyly; Carpal bone hypoplasia; Chronic hepatic failure; Cone-shaped epiphyses of the phalanges of the hand; Coxa valga; Death in infancy; Dehydration; Delayed skeletal maturation; Depressed nasal bridge; Elevated hepatic transaminases; Enlarged thorax; Epicanthus; Epiphyseal dysplasia; Flattened epiphysis; Gait disturbance; Genu valgum; Global developmental delay; Glycosuria; Hepatomegaly; High forehead; High palate; Hip dislocation; Hip subluxation; Hyperglycemia; Hyperlordosis; Hypermetropia; Hypertelorism; Hypertonia; Hyperuricemia; Hypoplasia of the odontoid process; Infantile onset; Insulin-resistant diabetes mellitus; Intellectual disability; Intracerebral periventricular calcifications; Irregular carpal bones; Irregular tarsal ossification; Irregular vertebral endplates; Ivory epiphyses of the phalanges of the hand; Ivory epiphyses of the toes; Ketoacidosis; Microcephaly; Microdontia; Motor delay; Multiple epiphyseal dysplasia; Muscular hypotonia; Narrow iliac wings; Neutropenia; Osteopenia; Osteoporosis; Platyspondyly; Preauricular pit; Reduced pancreatic beta cells; Renal insufficiency; Renal tubular dysfunction; Short stature; Short thorax; Shortening of all middle phalanges of the fingers; Small epiphyses; Steatorrhea; Thin vermilion border; Transient neonatal diabetes mellitus; Triangular face; Type I diabetes mellitus; Upslanted palpebral fissure; Weight loss
EIF2AK32p11.299.85%gene with protein product604032Abnormal heart morphology; Abnormality of the metaphysis; Acute hepatic failure; Autosomal recessive inheritance; Barrel-shaped chest; Brachydactyly; Carpal bone hypoplasia; Chronic hepatic failure; Cone-shaped epiphyses of the phalanges of the hand; Coxa valga; Death in infancy; Dehydration; Delayed skeletal maturation; Depressed nasal bridge; Elevated hepatic transaminases; Enlarged thorax; Epicanthus; Epiphyseal dysplasia; Flattened epiphysis; Gait disturbance; Genu valgum; Global developmental delay; Glycosuria; Hepatomegaly; High forehead; High palate; Hip dislocation; Hip subluxation; Hyperglycemia; Hyperlordosis; Hypermetropia; Hypertelorism; Hypertonia; Hyperuricemia; Hypoplasia of the odontoid process; Infantile onset; Insulin-resistant diabetes mellitus; Intellectual disability; Intracerebral periventricular calcifications; Irregular carpal bones; Irregular tarsal ossification; Irregular vertebral endplates; Ivory epiphyses of the phalanges of the hand; Ivory epiphyses of the toes; Ketoacidosis; Microcephaly; Microdontia; Motor delay; Multiple epiphyseal dysplasia; Muscular hypotonia; Narrow iliac wings; Neutropenia; Osteopenia; Osteoporosis; Platyspondyly; Preauricular pit; Reduced pancreatic beta cells; Renal insufficiency; Renal tubular dysfunction; Short stature; Short thorax; Shortening of all middle phalanges of the fingers; Small epiphyses; Steatorrhea; Thin vermilion border; Transient neonatal diabetes mellitus; Triangular face; Type I diabetes mellitus; Upslanted palpebral fissure; Weight loss
KIF715q26.199.94%gene with protein product611254Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of epiphysis morphology; Abnormality of the sense of smell; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the corpus callosum; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid distal phalanx of the thumb; Bifid uvula; Brachydactyly; Brain atrophy; Broad forehead; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Dandy-Walker malformation; Deeply set eye; Downslanted palpebral fissures; Duplication of phalanx of hallux; Duplication of thumb phalanx; Epicanthus; Failure to thrive; Finger syndactyly; Frontal bossing; Genu valgum; Gingival cleft; Growth delay; Heterogeneous; Hydrocephalus; Hypertelorism; Hypopigmentation of the fundus; Inguinal hernia; Intellectual disability, severe; Joint dislocation; Laryngomalacia; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Malar flattening; Micrognathia; Molar tooth sign on MRI; Multiple epiphyseal dysplasia; Obesity; Osteoarthritis; Pectus carinatum; Pectus excavatum; Phenotypic variability; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Postnatal growth retardation; Preauricular skin tag; Preaxial foot polydactyly; Preaxial hand polydactyly; Preaxial polydactyly; Premature birth; Prominent forehead; Prominent occiput; Rectovaginal fistula; Retrognathia; Short neck; Short nose; Sloping forehead; Submucous cleft hard palate; Toe syndactyly; Tracheal atresia; Triangular mouth; Triphalangeal thumb; Umbilical hernia; Unilateral cleft lip; Ventriculomegaly; Wide anterior fontanelHeterotaxy
MATN32p24.1100%gene with protein product602109Arthralgia; Arthralgia of the hip; Autosomal dominant inheritance; Autosomal recessive inheritance; Bowing of the legs; Broad femoral neck; Coxa vara; Delayed ossification of carpal bones; Delayed tarsal ossification; Disproportionate short-limb short stature; Dysplastic iliac wings; Epiphyseal dysplasia; Flat acetabular roof; Gait disturbance; Genu valgum; Heterogeneous; Hip dysplasia; Hypoplasia of the capital femoral epiphysis; Hypoplastic pubic bone; Irregular epiphyses; Joint stiffness; Limb undergrowth; Limited elbow extension; Lumbar hyperlordosis; Metaphyseal irregularity; Metaphyseal spurs; Metaphyseal widening; Micromelia; Multiple epiphyseal dysplasia; Narrow iliac wings; Osteoarthritis; Ovoid vertebral bodies; Platyspondyly; Posterior rib cupping; Premature osteoarthritis; Short femoral neck; Short long bone; Small epiphyses; Spondyloepimetaphyseal dysplasia; Thoracic hypoplasia; Waddling gait
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
SLC26A25q32100%gene with protein product606718DTDAbdominal distention; Abnormal enchondral ossification; Abnormal form of the vertebral bodies; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the clavicle; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the patella; Abnormality of the ribs; Absent or minimally ossified vertebral bodies; Anteverted nares; Aplasia/Hypoplasia of the lungs; Arthralgia; Autosomal recessive inheritance; Blue sclerae; Bowing of the long bones; Brachydactyly; Breech presentation; Camptodactyly of finger; Cervical kyphosis; Cleft palate; Clinodactyly of the 5th finger; Coronal cleft vertebrae; Costal cartilage calcification; Cystic lesions of the pinnae; Depressed nasal bridge; Disproportionate short stature; Disproportionate short-limb short stature; Dumbbell-shaped femur; Edema; Epiphyseal dysplasia; Femoral hernia; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Frontal bossing; Full cheeks; Glabellar hemangioma; Hearing impairment; Hip contracture; Hip dysplasia; Hitchhiker thumb; Hoarse voice; Horizontal sacrum; Hydrops fetalis; Hypertelorism; Hypertrophic auricular cartilage; Hypoplasia of the femoral head; Hypoplastic cervical vertebrae; Hypoplastic ilia; Increased bone mineral density; Inguinal hernia; Intrauterine growth retardation; Irregular epiphyses; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Laryngotracheal stenosis; Lethal skeletal dysplasia; Limited elbow flexion; Long philtrum; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Multiple epiphyseal dysplasia; Muscular hypotonia; Narrow chest; Neonatal short-limb short stature; Osteoarthritis; Overfolded helix; Platyspondyly; Polyhydramnios; Proximal placement of thumb; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Sandal gap; Scoliosis; Severe short stature; Short finger; Short foot; Short long bone; Short metacarpal; Short middle phalanx of finger; Short neck; Short nose; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Small hand; Spinal cord compression; Stillbirth; Symphalangism affecting the phalanges of the hand; Talipes equinovarus; Thickened nuchal skin fold; Thoracic hypoplasia; Ulnar deviation of finger; Umbilical herniaShort-Rib Thoracic 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