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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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
Slender build

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACTA11q42.13100%gene with protein product102610ACTAAbnormality on pulmonary function testing; Achilles tendon contracture; Areflexia; Arthrogryposis multiplex congenita; Autophagic vacuoles; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Cardiac conduction abnormality; Centrally nucleated skeletal muscle fibers; Congenital onset; Decreased fetal movement; Difficulty climbing stairs; Dilated cardiomyopathy; Distal muscle weakness; Dysphagia; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Foot dorsiflexor weakness; Frequent falls; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Gowers sign; Hamstring contractures; Hand muscle atrophy; Handgrip myotonia; Heterogeneous; High palate; Hip contracture; Hyperlordosis; Hyporeflexia; Increased connective tissue; Increased variability in muscle fiber diameter; Late-onset distal muscle weakness; Limb muscle weakness; Limb-girdle muscular dystrophy; Long face; Lumbar hyperlordosis; Mask-like facies; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Muscle fiber splitting; Muscular hypotonia; Myofibrillar myopathy; Myopathic facies; Myopathy; Narrow face; Neck flexor weakness; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Pectus excavatum; Pes cavus; Phenotypic variability; Pneumonia; Polyhydramnios; Poor head control; Progressive muscle weakness; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Retrognathia; Rimmed vacuoles; Scoliosis; Skeletal muscle atrophy; Slender build; Slow progression; Spinal rigidity; Torticollis; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Waddling gait; Weak cry; Wrist dropRhabdomyolysis
COL6A121q22.3100%gene with protein product120220Abnormality of the cardiovascular system; Abnormality of the palate; Adducted thumb; Ankle contracture; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Camptodactyly of finger; Congenital muscular dystrophy; Congenital muscular torticollis; Decreased fetal movement; Diaphragmatic weakness; Distal muscle weakness; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Esotropia; Facial palsy; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Follicular hyperkeratosis; Frequent falls; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; High palate; Hip dislocation; Hyperextensibility at wrists; Hyperhidrosis; Increased endomysial connective tissue; Increased laxity of ankles; Increased laxity of fingers; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Joint stiffness; Knee flexion contracture; Kyphosis; Limb-girdle muscle weakness; Long toe; Micrognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Myopathy; Neonatal hypotonia; Nocturnal hypoventilation; Pes valgus; Progressive; Protruding ear; Proximal muscle weakness; Recurrent lower respiratory tract infections; Respiratory failure; Respiratory insufficiency due to muscle weakness; Round face; Scoliosis; Short neck; Skeletal muscle atrophy; Slender build; Slender finger; Slow progression; Spinal rigidity; Talipes equinovarus; Torticollis; Type 1 muscle fiber predominance; Variable expressivity
COL6A221q22.3100%gene with protein product120240Abnormality of the cardiovascular system; Abnormality of the palate; Achilles tendon contracture; Adducted thumb; Ankle contracture; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Camptodactyly of finger; Congenital muscular dystrophy; Congenital muscular torticollis; Decreased fetal movement; Decreased pulmonary function; Diaphragmatic weakness; Distal muscle weakness; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Esotropia; Facial palsy; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Follicular hyperkeratosis; Frequent falls; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; High palate; Hip dislocation; Hyperextensibility at wrists; Hyperhidrosis; Increased connective tissue; Increased endomysial connective tissue; Increased laxity of ankles; Increased laxity of fingers; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Joint stiffness; Juvenile onset; Knee flexion contracture; Kyphosis; Limb-girdle muscle weakness; Long toe; Lumbar hyperlordosis; Micrognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Myopathy; Neonatal hypotonia; Nocturnal hypoventilation; Pes valgus; Progressive; Protruding ear; Proximal muscle weakness; Recurrent lower respiratory tract infections; Respiratory failure; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Round face; Scoliosis; Short neck; Short stature; Skeletal muscle atrophy; Slender build; Slender finger; Slow progression; Spinal rigidity; Talipes equinovarus; Thoracolumbar scoliosis; Torticollis; Type 1 muscle fiber predominance; Variable expressivity
COL6A32q37.3100%gene with protein product120250Abnormality of the cardiovascular system; Abnormality of the palate; Adducted thumb; Ankle contracture; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Camptodactyly of finger; Congenital muscular dystrophy; Congenital muscular torticollis; Decreased fetal movement; Diaphragmatic weakness; Distal muscle weakness; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Esotropia; Facial palsy; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Follicular hyperkeratosis; Frequent falls; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; High palate; Hip dislocation; Hyperextensibility at wrists; Hyperhidrosis; Increased endomysial connective tissue; Increased laxity of ankles; Increased laxity of fingers; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Joint stiffness; Knee flexion contracture; Kyphosis; Laryngeal dystonia; Limb-girdle muscle weakness; Long toe; Micrognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Myopathy; Neonatal hypotonia; Nocturnal hypoventilation; Oromandibular dystonia; Pes valgus; Postural tremor; Progressive; Protruding ear; Proximal muscle weakness; Recurrent lower respiratory tract infections; Respiratory failure; Respiratory insufficiency due to muscle weakness; Round face; Scoliosis; Short neck; Skeletal muscle atrophy; Slender build; Slender finger; Slow progression; Spinal rigidity; Talipes equinovarus; Torticollis; Type 1 muscle fiber predominance; Variable expressivity
DNA210q21.3100%gene with protein product601810DNA2LAutosomal dominant inheritance; Autosomal recessive inheritance; Convex nasal ridge; Ectopic kidney; Elevated serum creatine phosphokinase; Exercise intolerance; Exertional dyspnea; Facial palsy; Gait disturbance; Generalized amyotrophy; Global developmental delay; Gowers sign; Intellectual disability; Kyphoscoliosis; Limb-girdle muscle weakness; Microcephaly; Micrognathia; Muscle cramps; Myalgia; Progressive external ophthalmoplegia; Ptosis; Short stature; Slender build; Slow progression; Spinal cord compressionRhabdomyolysis
FBN25q23.3100%gene with protein product612570CCAAbnormally folded helix; Adducted thumb; Aortic root aneurysm; Arachnodactyly; Arthrogryposis multiplex congenita; Atrial septal defect; Autosomal dominant inheritance; Bicuspid aortic valve; Brachycephaly; Calf muscle hypoplasia; Camptodactyly of finger; Congenital kyphoscoliosis; Crumpled ear; Disproportionate tall stature; Distal arthrogryposis; Ectopia lentis; Frontal bossing; High palate; Joint stiffness; Macular degeneration; Metatarsus adductus; Mitral regurgitation; Mitral valve prolapse; Motor delay; Myopia; Osteopenia; Patellar dislocation; Patellar subluxation; Patent ductus arteriosus; Pectus carinatum; Reduced visual acuity; Scaphocephaly; Short neck; Slender build; Ulnar deviation of finger; Ventricular septal defect; Visual impairment
NEB2q23.387.76%gene with protein product161650NEM2Abnormality of the eye; Abnormality of the rib cage; Apnea; Areflexia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Bulbar palsy; Cleft palate; Congenital contracture; Decreased fetal movement; Dysphagia; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Feeding difficulties; Frequent falls; Generalized muscle weakness; Heterogeneous; High palate; Hyperlordosis; Hyporeflexia; Infantile onset; Late-onset distal muscle weakness; Limb muscle weakness; Low-set ears; Mildly elevated creatine phosphokinase; Motor delay; Myopathic facies; Neck flexor weakness; Nemaline bodies; Neonatal hypotonia; Polyhydramnios; Proximal muscle weakness; Respiratory insufficiency due to muscle weakness; Scoliosis; Slender build; Spinal rigidity; Type 1 muscle fiber predominance; Waddling gaitRhabdomyolysis
NONOXq13.1100%gene with protein product300084Aggressive behavior; Ataxia; Dental crowding; Frontal bossing; Generalized hypotonia; Hallux valgus; High, narrow palate; Increased head circumference; Intellectual disability; Joint laxity; Kyphosis; Left ventricular noncompaction; Long face; Malar flattening; Mild global developmental delay; Motor delay; Myopia; Narrow mouth; Nasal speech; Neonatal hypotonia; Open mouth; Patent ductus arteriosus; Patent foramen ovale; Perseveration; Pes planus; Prominent nose; Right ventricular hypertrophy; Scoliosis; Seizures; Slender build; Strabismus; Thickened calvaria; Tremor; Upslanted palpebral fissure; Ventricular septal defect; X-linked recessive inheritance
NSDHLXq28100%gene with protein product300275Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormality of digit; Abnormality of the nail; Aggressive behavior; Almond-shaped palpebral fissure; Aplasia/hypoplasia of the extremities; Cleft upper lip; Congenital ichthyosiform erythroderma; Delayed speech and language development; Dental crowding; Epicanthus; Epiphyseal stippling; Generalized hypotonia; Global developmental delay; Heterogeneous; High palate; Hydronephrosis; Hyperactivity; Hyperkeratosis; Hyperlordosis; Hypoplastic pelvis; Intellectual disability; Intellectual disability, mild; Irritability; Joint hypermobility; Kyphosis; Long face; Malar flattening; Microcephaly; Micrognathia; Mild intrauterine growth retardation; Narrow face; Pachygyria; Parakeratosis; Polymicrogyria; Posteriorly rotated ears; Prominent nasal bridge; Retrognathia; Scoliosis; Seizures; Single ventricle; Sleep disturbance; Slender build; Strabismus; Umbilical hernia; Upslanted palpebral fissure; X-linked dominant inheritance; X-linked recessive inheritancePalmoplantar keratoderma plus congenital ichthyosis
PDE11A2q31.299.8%gene with protein product604961Adrenal hyperplasia; Agitation; Anxiety; Autosomal dominant inheritance; Bruising susceptibility; Decreased circulating ACTH level; Depressivity; Diabetes mellitus; Fatigue; Hypertension; Hypogonadism; Increased susceptibility to fractures; Kyphosis; Mental deterioration; Mood changes; Muscle weakness; Onset; Osteopenia; Osteoporosis; Paradoxical increased cortisol secretion on dexamethasone suppression test; Pigmented micronodular adrenocortical disease; Primary hypercorticolism; Psychosis; Round face; Short stature; Skeletal muscle atrophy; Slender build; Striae distensae; Thin skin; Truncal obesityObesity
PDE8B5q13.399.96%gene with protein product603390Adrenal hyperplasia; Autosomal dominant inheritance; Bradykinesia; Degeneration of the striatum; Diabetes mellitus; Dysarthria; Dysdiadochokinesis; Dysphagia; Fatigue; Gait disturbance; Hypertension; Hypogonadism; Hypokinesia; Increased circulating cortisol level; Increased susceptibility to fractures; Lower limb hyperreflexia; Muscle weakness; Osteoporosis; Pigmented micronodular adrenocortical disease; Rigidity; Short stature; Skeletal muscle atrophy; Slender build; Slow progression; Striae distensae; Symmetric lesions of the basal ganglia; Thin skin
PRKACA19p13.1100%gene with protein product601639Acne; Adrenal hyperplasia; Alopecia; Autosomal dominant inheritance; Bruising susceptibility; Depressivity; Diabetes mellitus; Dorsocervical fat pad; Emotional lability; Fatigue; Fragile skin; Hirsutism; Hypertension; Hypogonadism; Increased body weight; Increased susceptibility to fractures; Moon facies; Muscle weakness; Osteopenia; Osteoporosis; Pigmented micronodular adrenocortical disease; Primary hypercorticolism; Proximal muscle weakness; Short stature; Skeletal muscle atrophy; Slender build; Striae distensae; Thin skin
PRKAR1A17q24.2100%gene with protein product188830PRKAR1, TSE1Abnormal form of the vertebral bodies; Abnormal prolactin level; Abnormality of circulating adrenocorticotropin level; Abnormality of female external genitalia; Abnormality of immune system physiology; Abnormality of the eye; Abnormality of the nail; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Adrenal hyperplasia; Agitation; Anteverted nares; Anxiety; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bacterial endocarditis; Blue irides; Blue nevus; Brachycephaly; Brachydactyly; Broad nasal tip; Broad palm; Bruising susceptibility; Calvarial hyperostosis; Cardiac myxoma; Cerebral venous thrombosis; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Congenital craniofacial dysostosis; Congenital hypothyroidism; Congestive heart failure; Cryptorchidism; Decreased circulating ACTH level; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Depressivity; Diabetes mellitus; Dislocated radial head; Disproportionate short-limb short stature; Easy fatigability; Elevated calcitonin; Elevated circulating parathyroid hormone level; Enlarged polycystic ovaries; Epicanthus; Epiphyseal stippling; Exertional dyspnea; Fatigue; Freckling; Global developmental delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Heart murmur; Heterogeneous; Hirsutism; Hydrocephalus; Hyperactivity; Hyperphosphatemia; Hypertelorism; Hypertension; Hypocalcemia; Hypodontia; Hypogonadism; Hypoplasia of the maxilla; Hypoplasia of the nasal bone; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic vertebral bodies; Hypospadias; Increased circulating cortisol level; Increased intracranial pressure; Increased susceptibility to fractures; Increased urinary cortisol level; Intellectual disability; Intrauterine growth retardation; Kyphosis; Long hallux; Malar flattening; Mandibular prognathia; Melanocytic nevus; Menstrual irregularities; Mental deterioration; Micromelia; Midface retrusion; Mild postnatal growth retardation; Mild short stature; Mood changes; Multiple lentigines; Muscle weakness; Myxoid subcutaneous tumors; Narrow vertebral interpedicular distance; Neonatal epiphyseal stippling; Nevus; Obesity; Onset; Open mouth; Optic atrophy; Osteopenia; Osteoporosis; Paradoxical increased cortisol secretion on dexamethasone suppression test; Peripheral neuropathy; Peripheral Schwannoma; Pheochromocytoma; Pigmented micronodular adrenocortical disease; Pituitary adenoma; Pituitary growth hormone cell adenoma; Primary hypercorticolism; Profuse pigmented skin lesions; Pseudohypoparathyroidism; Psychosis; Pulmonic valve myxoma; Red hair; Round face; Schwannoma; Scoliosis; Short metacarpal; Short metatarsal; Short nose; Short palm; Short phalanx of finger; Short stature; Short toe; Skeletal muscle atrophy; Slender build; Specific learning disability; Spinal canal stenosis; Strabismus; Striae distensae; Thin skin; Thyroid adenoma; Thyroid carcinoma; Thyroid follicular hyperplasia; Truncal obesity; Vestibular Schwannoma; Wide nasal bridgeHeterotaxy ; Obesity
TGFB119q13.1100%gene with protein product190180TGFB, DPD1Abnormality of the humerus; Abnormality of the ulna; Abnormality of tibia morphology; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Biliary cirrhosis; Bone marrow hypocellularity; Bone pain; Cachexia; Carious teeth; Cortical thickening of long bone diaphyses; Craniofacial osteosclerosis; Decreased antibody level in blood; Delayed puberty; Diaphyseal sclerosis; Diplopia; Easy fatigability; Elevated aldolase level; Exocrine pancreatic insufficiency; Genu valgum; Headache; Hearing impairment; Hyperostosis; Immunodeficiency; Juvenile onset; Limb pain; Limitation of joint mobility; Malabsorption; Mandibular prognathia; Metaphyseal dysplasia; Muscle weakness; Optic nerve compression; Poor appetite; Proptosis; Pulmonary fibrosis; Recurrent respiratory infections; Reduced subcutaneous adipose tissue; Sclerosis of skull base; Scoliosis; Skeletal muscle atrophy; Slender build; Waddling gait
WRN8p1299.96%gene with protein product604611RECQL2, RECQ3Abnormal hair whorl; Abnormality of retinal pigmentation; Abnormality of the hair; Abnormality of the thorax; Abnormality of the voice; Aplasia/Hypoplasia of the skin; Aplasia/Hypoplasia of the testes; Atherosclerosis; Autosomal recessive inheritance; Cataract; Chondrocalcinosis; Congestive heart failure; Convex nasal ridge; Decreased fertility; Diabetes mellitus; Hyperkeratosis; Hypogonadism; Increased bone mineral density; Insulin resistance; Lack of skin elasticity; Lipoatrophy; Meningioma; Myocardial infarction; Narrow face; Osteoporosis; Osteosarcoma; Pili torti; Premature arteriosclerosis; Premature graying of hair; Progeroid facial appearance; Pulmonary artery stenosis; Retinal degeneration; Rocker bottom foot; Short stature; Skeletal muscle atrophy; Skin ulcer; Slender build; Small hand; Sparse scalp hair; Subcutaneous calcification; Telangiectasia of the skin; Type II diabetes mellitus; White forelock


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