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
Anterior rib cupping

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADA20q13.12100%gene with protein product608958Abnormal lymphocyte morphology; Abnormality of pelvic girdle bone morphology; Absence of lymph node germinal center; Absent specific antibody response; Absent tonsils; Allergy; Alopecia; Anterior rib cupping; Anti-thyroid peroxidase antibody positivity; Aplasia of the thymus; Aplasia/Hypoplasia of the eyebrow; Asthma; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autosomal recessive inheritance; B lymphocytopenia; B-cell lymphoma; Chronic diarrhea; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Diffuse mesangial sclerosis; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Fever; Hepatomegaly; IgA deficiency; IgM deficiency; Immunoglobulin IgG2 deficiency; Increased IgE level; Inflammatory abnormality of the skin; Lack of T cell function; Lymphadenopathy; Platyspondyly; Pneumonia; Pruritus; Pulmonary insufficiency; Recurrent bacterial infections; Recurrent fungal infections; Recurrent opportunistic infections; Recurrent otitis media; Recurrent pneumonia; Recurrent upper respiratory tract infections; Recurrent viral infections; Reduced red cell adenosine deaminase activity; Severe B lymphocytopenia; Severe combined immunodeficiency; Sinusitis; Somatic mosaicism; Splenomegaly; Thickened skinAutoimmune Disorders ; Common Variable Immune Deficiency ; Hemolytic Anemia ; Inflammatory Bowel Disease ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
C21ORF221q22.3100%gene with protein product603191CFAP410Amyotrophic lateral sclerosis; Anterior rib cupping; Anxiety; Autosomal recessive inheritance; Coxa vara; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Narrow greater sacrosciatic notches; Neurodegeneration; Nystagmus; Optic atrophy; Pain; Paralysis; Platyspondyly; Proximal femoral metaphyseal irregularity; Recurrent pneumonia; Respiratory failure; Rod-cone dystrophy; Short femoral neck; Short stature; Skeletal muscle atrophy; Spasticity; Spondylometaphyseal dysplasia; Thoracic hypoplasia; XerostomiaObesity
COL11A11p21.199.98%gene with protein product120280COLL6Abnormal diaphysis morphology; Abnormal form of the vertebral bodies; Abnormal vitreous humor morphology; Abnormality of the dentition; Abnormality of the metaphysis; Abnormality of the pinna; Absent frontal sinuses; Amblyopia; Anterior rib cupping; Anteverted nares; Arachnodactyly; Arthralgia; Arthropathy; Astigmatism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bifid uvula; Brachycephaly; Brachydactyly; Broad ischia; Broad long bones; Broad ribs; Calcification of falx cerebri; Camptodactyly; Cataract; Cerebral calcification; Cleft palate; Clinodactyly of the 5th finger; Congenital cataract; Corneal opacity; Coxa valga; Depressed nasal bridge; Downslanted palpebral fissures; Dumbbell-shaped long bone; Ectopia lentis; Epicanthus; Epiphyseal dysplasia; Esotropia; Femoral bowing; Fibular hypoplasia; Flat face; Frontal bossing; Genu valgum; Glaucoma; Glossoptosis; Hearing abnormality; High myopia; Hydrops fetalis; Hypertelorism; Hypohidrosis; Hypoplasia of the maxilla; Hypoplasia of the zygomatic bone; Hypoplastic fingernail; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic ischia; Hypoplastic scapulae; Hypoplastic toenails; Hypotrichosis; Irregular distal femoral epiphysis; Irregular proximal tibial epiphyses; Irregular vertebral endplates; Joint contracture of the hand; Joint hyperflexibility; Joint hypermobility; Lens luxation; Long clavicles; Long fingers; Long philtrum; Low-set ears; Macrodontia of permanent maxillary central incisor; Malar flattening; Megalocornea; Meningeal calcification; Micrognathia; Micromelia; Midface retrusion; Myopia; Narrow chest; Narrow greater sacrosciatic notches; Narrow mouth; Omphalocele; Osteoarthritis; Patent foramen ovale; Pierre-Robin sequence; Platyspondyly; Posterior rib cupping; Posterior vertebral hypoplasia; Premature birth; Proptosis; Protuberant abdomen; Radial bowing; Respiratory insufficiency; Retinal detachment; Retinopathy; Rhizomelia; Round face; Sensorineural hearing impairment; Short femur; Short foot; Short long bone; Short neck; Short nose; Short palm; Short ribs; Short stature; Small distal femoral epiphysis; Small hand; Small proximal tibial epiphyses; Spondyloepiphyseal dysplasia; Stillbirth; Thick lower lip vermilion; Thick upper lip vermilion; Thickened calvaria; Thin clavicles; Thin ribs; Thoracic hypoplasia; Ulnar bowing; Upper airway obstruction; Visual impairment; Vitreoretinal degeneration; Wide anterior fontanel; Wide nasal bridge; Wide tufts of distal phalanges; Widely patent coronal suture; Widely patent sagittal sutureEctodermal Dysplasia
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
DDR21q23.3100%gene with protein product191311TYRO10, NTRKR3Abnormal calcification of the carpal bones; Abnormality of the neck; Anterior rib cupping; Atlantoaxial instability; Autosomal recessive inheritance; Bell-shaped thorax; Bowing of the legs; Broad metacarpals; Broad phalanx; C1-C2 subluxation; Calcification of falx cerebri; Depressed nasal bridge; Disproportionate short-limb short stature; Elbow flexion contracture; Epiphyseal stippling; Flared iliac wings; Flared metaphysis; Frontal bossing; Generalized hypotonia; Global developmental delay; High palate; Hip subluxation; Hypertelorism; Hypoplasia of the odontoid process; Knee flexion contracture; Long fibula; Malar flattening; Metatarsus adductus; Micrognathia; Micromelia; Midface retrusion; Muscular hypotonia; Pectus excavatum; Platyspondyly; Posterior rib cupping; Progressive calcification of costochondral cartilage; Proptosis; Recurrent pneumonia; Restrictive ventilatory defect; Scoliosis; Short long bone; Short metacarpal; Short nose; Short phalanx of finger; Short ribs; Spinal cord compression; Spondyloepimetaphyseal dysplasia; Syringomyelia; Thoracic hypoplasia; Tracheal calcification; Triangular shaped distal phalanges of the hand
INPPL111q13.4100%gene with protein product600829Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Anterior rib cupping; Anteverted nares; Autosomal recessive inheritance; Bell-shaped thorax; Brachydactyly; Cryptorchidism; Delayed skeletal maturation; Depressed nasal bridge; Disproportionate short-limb short stature; Dolichocephaly; Edema; Fibular hypoplasia; Flat acetabular roof; Flat occiput; Frontal bossing; Generalized hypotonia; Hypertelorism; Hypoplastic ilia; Hypoplastic ischia; Hypoplastic pubic bone; Hypoplastic scapulae; Hypoplastic toenails; Hypoplastic vertebral bodies; Increased fibular diameter; Large fontanelles; Lateral clavicle hook; Long philtrum; Lymphedema; Macrocephaly; Malar flattening; Metaphyseal cupping; Micromelia; Muscular hypotonia; Narrow chest; Polyhydramnios; Posterior rib cupping; Protuberant abdomen; Recurrent respiratory infections; Respiratory insufficiency; Rhizomelia; Severe platyspondyly; Severe short stature; Short foot; Short long bone; Short neck; Short nose; Short palm; Short ribs; Squared iliac bones; Tapered finger
SLC35D11p31.397.11%gene with protein product610804Abnormality of the fingernails; Advanced ossification of carpal bones; Advanced tarsal ossification; Anterior rib cupping; Autosomal recessive inheritance; Brachydactyly; Cleft palate; Cryptorchidism; Disproportionate short-limb short stature; Dolichocephaly; Dumbbell-shaped long bone; Fibular hypoplasia; Flat acetabular roof; Hypoplastic ilia; Hypoplastic scapulae; Hypoplastic toenails; Hypoplastic vertebral bodies; Increased fibular diameter; Lateral clavicle hook; Lymphedema; Macrocephaly; Malar flattening; Metaphyseal irregularity; Micromelia; Midface retrusion; Narrow chest; Ovoid vertebral bodies; Polyhydramnios; Short neck; Short ribs; Snail-like ilia; Stillbirth


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