XomeDxSlice Tool

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



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You may also use this search to review average exome sequencing coverage by entering the gene symbol below.


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Diaphragmatic eventration

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
CHRNG2q37.1100%gene with protein product100730ACHRGAbnormal cervical curvature; Abnormal facial shape; Abnormality of the foot; Abnormality of the neck; Absence of labia majora; Akinesia; Amyoplasia; Antecubital pterygium; Anterior clefting of vertebral bodies; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the skin; Arachnodactyly; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Axillary pterygia; Bilateral camptodactyly; Camptodactyly of finger; Camptodactyly of toe; Cleft palate; Conductive hearing impairment; Congenital diaphragmatic hernia; Cryptorchidism; Cystic hygroma; Decreased fetal movement; Depressed nasal ridge; Diaphragmatic eventration; Dislocated radial head; Downslanted palpebral fissures; Downturned corners of mouth; Dysplastic patella; Edema; Epicanthus; Exostosis of the external auditory canal; Facial asymmetry; Fetal akinesia sequence; Finger syndactyly; Flexion contracture; Fused cervical vertebrae; High palate; Hip dislocation; Hypertelorism; Hypogonadism; Hypoplastic heart; Hypoplastic nipples; Hypospadias; Increased susceptibility to fractures; Inguinal hernia; Intercrural pterygium; Intrauterine growth retardation; Joint dislocation; Kyphosis; Limitation of joint mobility; Long clavicles; Long face; Long philtrum; Low-set ears; Malignant hyperthermia; Microcephaly; Micrognathia; Multiple pterygia; Narrow mouth; Neck pterygia; Neonatal respiratory distress; Patellar aplasia; Pectus excavatum; Pointed chin; Polyhydramnios; Popliteal pterygium; Ptosis; Pulmonary hypoplasia; Rib fusion; Rocker bottom foot; Scoliosis; Short finger; Short stature; Symphalangism affecting the phalanges of the hand; Syndactyly; Talipes calcaneovalgus; Talipes equinovarus; Telecanthus; Thin ribs; Umbilical hernia; Vertebral fusion; Vertebral segmentation defect; Webbed neck
IGHMBP211q13.3100%gene with protein product600502Areflexia; Autosomal recessive inheritance; Axonal degeneration; Camptodactyly of finger; Constipation; Decreased fetal movement; Decreased nerve conduction velocity; Degeneration of anterior horn cells; Denervation of the diaphragm; Diaphragmatic eventration; Diaphragmatic paralysis; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; EMG: neuropathic changes; Failure to thrive; Foot dorsiflexor weakness; Hyperhidrosis; Hyporeflexia; Inspiratory stridor; Intrauterine growth retardation; Limb muscle weakness; Peripheral axonal degeneration; Premature birth; Respiratory failure; Slow progression; Small for gestational age; Spinal muscular atrophy; Steppage gait; Tachypnea; Talipes equinovarus; Urinary incontinence; Ventilator dependence with inability to wean; Weak cry
MTM1Xq2899.73%gene with protein product300415Arachnodactyly; Areflexia; Atrioventricular block; Birth length greater than 97th percentile; Cavernous hemangioma; Cryptorchidism; Decreased fetal movement; Decreased liver function; Diaphragmatic eventration; EMG abnormality; External ophthalmoplegia; Facial palsy; Flexion contracture; Gait disturbance; Generalized muscle weakness; Head tremor; High palate; Hydrocephalus; Hypokinesia; Long face; Macrocephaly; Mask-like facies; Muscular hypotonia; Narrow face; Neck muscle weakness; Neonatal respiratory distress; Polyhydramnios; Ptosis; Pyloric stenosis; Respiratory failure requiring assisted ventilation; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Slender toe; X-linked recessive inheritanceRhabdomyolysis
PLOD37q22.1100%gene with protein product603066Abnormality of the pinna; Anteverted nares; Arterial rupture; Autosomal recessive inheritance; Bruising susceptibility; Cataract; Coarse hair; Decreased palmar creases; Diaphragmatic eventration; Dilatation of the cerebral artery; Downturned corners of mouth; Elbow flexion contracture; Flat face; Global developmental delay; Hearing impairment; Hypoplasia of the capital femoral epiphysis; Intrauterine growth retardation; J-shaped sella turcica; Long philtrum; Low-set ears; Malar flattening; Myopia; Nail dysplasia; Osteopenia; Pathologic fracture; Platyspondyly; Postnatal growth retardation; Scoliosis; Shallow orbits; Short nose; Talipes equinovarus; Thenar muscle atrophy
STRA615q24.199.99%gene with protein product610745Abnormality of cardiovascular system morphology; Agenesis of pulmonary vessels; Anophthalmia; Atrial septal defect; Autosomal recessive inheritance; Bicornuate uterus; Bilateral lung agenesis; Bilateral microphthalmos; Blepharophimosis; Coarctation of aorta; Congenital diaphragmatic hernia; Cryptorchidism; Diaphragmatic eventration; Generalized hypotonia; Horseshoe kidney; Hydronephrosis; Hypoplasia of the uterus; Hypoplastic left atrium; Hypoplastic spleen; Inguinal hernia; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Micrognathia; Microphthalmia; Patent ductus arteriosus; Pelvic kidney; Pulmonary artery atresia; Pulmonary hypoplasia; Pulmonic stenosis; Renal hypoplasia; Renal malrotation; Respiratory insufficiency; Right aortic arch with mirror image branching; Short stature; Single ventricle; Tetralogy of Fallot; Ventricular septal defect; Wide nasal bridge
TRIP415q22.3199.99%gene with protein product604501Autosomal recessive inheritance; Centrally nucleated skeletal muscle fibers; Congenital onset; Diaphragmatic eventration; Dry skin; Follicular hyperkeratosis; Generalized amyotrophy; Generalized hypotonia; Motor delay; Muscular dystrophy; Neck muscle weakness; Peripheral axonal neuropathy; Respiratory insufficiency due to muscle weakness; Scoliosis; Severe muscular hypotonia; Spinal muscular atrophy; Spinal rigidity

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.


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-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-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-SRTDShort-Rib Thoracic Dysplasia
CS-WSWaardenburg Syndrome