XomeDxSlice Tool

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Intestinal pseudo-obstruction

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
BRCA117q21.31100%gene with protein product113705FANCSAbdominal distention; Abdominal pain; Abnormality of the fallopian tube; Anorexia; Autosomal dominant inheritance; Back pain; Breast carcinoma; Chronic fatigue; Constipation; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Functional intestinal obstruction; Heterogeneous; Intestinal pseudo-obstruction; Jaundice; Lymphadenopathy; Nausea and vomiting; Neoplasm; Ovarian neoplasm; Pancreatic adenocarcinoma; Peritonitis; Poor appetite; Primary peritoneal carcinoma; Weight loss
BRCA213q13.199.99%gene with protein product600185FANCD1, FACD, FANCDAbdominal pain; Abnormality of chromosome stability; Abnormality of the fallopian tube; Almond-shaped palpebral fissure; Anorexia; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Autosomal recessive inheritance; Back pain; Bone marrow hypocellularity; Breast carcinoma; Chromosomal breakage induced by crosslinking agents; Chronic fatigue; Esophageal atresia; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Functional intestinal obstruction; Global developmental delay; Heterogeneous; Hypopigmented skin patches; Intellectual disability; Intestinal pseudo-obstruction; Irregular hyperpigmentation; Jaundice; Leukopenia; Lymphadenopathy; Microcephaly; Nephroblastoma; Ovarian neoplasm; Pancreatic adenocarcinoma; Poor appetite; Primary peritoneal carcinoma; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Somatic mutation; Thrombocytopenia; Tracheoesophageal fistula; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
CDKN2A9p21.3100%gene with protein product600160CDKN2, MLMAbdominal pain; Abnormality of the hair; Abnormality of the lymphatic system; Anorexia; Astrocytoma; Autosomal dominant inheritance; Back pain; Chronic fatigue; Cutaneous melanoma; Dry skin; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Freckling; Functional intestinal obstruction; Intestinal pseudo-obstruction; Jaundice; Lymphadenopathy; Melanoma; Nevus; Oropharyngeal squamous cell carcinoma; Pancreatic adenocarcinoma; Pancreatic squamous cell carcinoma; Poor appetite; Sarcoma; Squamous cell carcinoma; Weight loss
FLNAXq2899.99%gene with protein product300017FLN1, FLN, OPD2, OPD1Abdominal distention; Abnormal bleeding; Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormal facial shape; Abnormal foot bone ossification; Abnormal form of the vertebral bodies; Abnormal hand bone ossification; Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormal vertebral segmentation and fusion; Abnormality of dental morphology; Abnormality of metabolism/homeostasis; Abnormality of neuronal migration; Abnormality of skin pigmentation; Abnormality of the coagulation cascade; Abnormality of the fifth metatarsal bone; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the ribs; Absent frontal sinuses; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Accessory carpal bones; Anisospondyly; Ankle contracture; Anodontia; Antegonial notching of mandible; Anterior concavity of thoracic vertebrae; Anteriorly placed odontoid process; Aortic regurgitation; Arachnodactyly; Bicuspid aortic valve; Bipartite calcaneus; Bowing of the long bones; Brachydactyly; Broad distal phalanx of the thumb; Broad face; Broad forehead; Broad hallux; Broad phalanges of the hand; Broad thumb; Bulbous tips of toes; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Cerebellar hypoplasia; Cleft palate; Coarse facial features; Coarse hair; Coat hanger sign of ribs; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Congenital hip dislocation; Congestive heart failure; Constipation; Cor pulmonale; Coxa valga; Craniofacial hyperostosis; Cryptorchidism; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Facial asymmetry; Failure to thrive; Feeding difficulties in infancy; Femoral bowing; Fibroma; Fibular aplasia; Flared iliac wings; Flared metaphysis; Flat face; Focal seizures; Frontal bossing; Frontal hirsutism; Full cheeks; Fused cervical vertebrae; Gait disturbance; Gastroesophageal reflux; Genu valgum; Global developmental delay; Glossoptosis; Hearing impairment; Hernia; Heterotopia; High palate; Hip dislocation; Hirsutism; Hoarse voice; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the musculature; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic scapulae; Hypospadias; Hypotrichosis; Increased bone mineral density; Increased density of long bone diaphyses; Increased mean platelet volume; Increased size of the mandible; Infantile onset; Intellectual disability; Intellectual disability, mild; Intestinal hypoplasia; Intestinal malrotation; Intestinal pseudo-obstruction; Iris coloboma; Irregular metacarpals; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Large fontanelles; Large foramen magnum; Large forehead; Lateral femoral bowing; Limitation of joint mobility; Limited elbow extension; Limited knee flexion; Lipoatrophy; Localized skin lesion; Long fingers; Long foot; Long metacarpals; Long neck; Long phalanx of finger; Low-set ears; Macrotia; Malar flattening; Micrognathia; Midface retrusion; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Motor delay; Multiple impacted teeth; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow chest; Narrow mouth; Neonatal hypotonia; Nonossified fifth metatarsal; Obtuse angle of mandible; Oligodontia; Omphalocele; Osteolytic defects of the phalanges of the hand; Overlapping fingers; Partial fusion of carpals; Partial fusion of tarsals; Patent ductus arteriosus; Pectus excavatum; Periventricular gray matter heterotopia; Persistence of primary teeth; Pes planus; Pierre-Robin sequence; Platyspondyly; Pointed chin; Postaxial hand polydactyly; Posterior vertebral hypoplasia; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Prominent occiput; Prominent supraorbital ridges; Proptosis; Proximal placement of thumb; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Pyloric stenosis; Radial bowing; Radial deviation of the 2nd finger; Recurrent otitis media; Recurrent respiratory infections; Reduced number of teeth; Respiratory failure; Rocker bottom foot; Rudimentary fibula; Sandal gap; Scapular winging; Sclerosis of skull base; Scoliosis; Seizures; Selective tooth agenesis; Sensorineural hearing impairment; Short 3rd metacarpal; Short 4th metacarpal; Short 5th metacarpal; Short chin; Short chordae tendineae of the mitral valve; Short chordae tendineae of the tricuspid valve; Short clavicles; Short distal phalanx of finger; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short nose; Short palm; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Small face; Smooth philtrum; Spondylolysis; Stillbirth; Strabismus; Stridor; Stroke; Synostosis of carpal bones; Talipes equinovarus; Thick skull base; Thickened calvaria; Thin skin; Thrombocytopenia; Tibial bowing; Toe clinodactyly; Toe syndactyly; Tricuspid regurgitation; Tricuspid valve prolapse; Ulnar bowing; Ulnar deviation of finger; Underdeveloped superior crus of antihelix; Undulate clavicles; Ureteral obstruction; Ureteral stenosis; Vertical clivus; Vesicoureteral reflux; Vomiting; Wide anterior fontanel; Wide nasal bridge; Wormian bones; Wrist flexion contracture; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
IDSXq2899.74%gene with protein product300823SIDSAbnormal heart valve morphology; Abnormality of retinal pigmentation; Asthma; Cervical cord compression; Coarse facial features; Congestive heart failure; Delayed eruption of teeth; Dermatan sulfate excretion in urine; Diarrhea; Dysostosis multiplex; Flexion contracture; Hearing impairment; Heparan sulfate excretion in urine; Hepatomegaly; Hoarse voice; Hydrocephalus; Hypertrichosis; Inguinal hernia; Intellectual disability, profound; Intestinal pseudo-obstruction; Kyphosis; Macrocephaly; Macroglossia; Mild short stature; Neurodegeneration; Obstructive sleep apnea; Papilledema; Pes cavus; Ptosis; Recurrent otitis media; Scaphocephaly; Seizures; Severe short stature; Short neck; Short stature; Splenomegaly; Split hand; Thick lower lip vermilion; Tracheobronchomalacia; Umbilical hernia; Widely spaced teeth; X-linked recessive inheritance
KRAS12p12.1100%gene with protein product190070KRAS2Abdominal pain; Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal heart valve morphology; Abnormal morphology of the nasolacrimal system; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of the eyelashes; Abnormality of the spleen; Abnormality of the ulna; Abnormality of the ureter; Abnormality of toe; Abnormality of vision; Absent eyebrow; Absent septum pellucidum; Acute myeloid leukemia; Adenoma sebaceum; Aganglionic megacolon; Agenesis of corpus callosum; Alopecia; Alveolar cell carcinoma; Anorexia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the skin; Arrhythmia; Asymmetric growth; Atrial septal defect; Atrial septal dilatation; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Back pain; Basal cell carcinoma; Biparietal narrowing; Blepharophimosis; Bone cyst; Brachydactyly; Breast carcinoma; Brittle hair; Broad forehead; Capillary hemangiomas; Cavernous hemangioma; Cerebral calcification; Cerebral cortical atrophy; Chronic atrophic gastritis; Chronic fatigue; Coarctation of aorta; Coarse facial features; Coarse hair; Coloboma; Colon cancer; Constipation; Corneal opacity; Cranial asymmetry; Craniofacial hyperostosis; Cryptorchidism; Curly hair; Cystic hygroma; Death in early adulthood; Death in infancy; Deep palmar crease; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Downslanted palpebral fissures; Dry skin; Dysarthria; Dysphasia; Dystrophic fingernails; Echolalia; EEG abnormality; Enlarged thorax; Epibulbar dermoid; Epicanthus; Excessive wrinkled skin; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Facial asymmetry; Failure to thrive; Failure to thrive in infancy; Fatigue; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Functional intestinal obstruction; Gastrointestinal hemorrhage; Generalized hyperpigmentation; Genu recurvatum; Glioblastoma multiforme; Global developmental delay; Growth delay; Hearing impairment; Hemangioma; Hemimegalencephaly; Hepatomegaly; Heterogeneous; High forehead; High palate; Horseshoe kidney; Hyperextensible skin; Hyperreflexia; Hypertelorism; Hypertonia; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Hypoplasia of the zygomatic bone; Ichthyosis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intestinal pseudo-obstruction; Iris coloboma; Irregular hyperpigmentation; Irritability; Jaundice; Joint hyperflexibility; Juvenile myelomonocytic leukemia; Kyphoscoliosis; Laryngeal hypoplasia; Lipodystrophy; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Macrocephaly; Macrotia; Malabsorption; Melanocytic nevus; Micrognathia; Microphthalmia; Midface retrusion; Migraine; Mitral valve prolapse; Multiple cafe-au-lait spots; Multiple lentigines; Multiple lipomas; Muscle stiffness; Muscle weakness; Muscular hypotonia; Mutism; Myopia; Nausea and vomiting; Neoplasm of the pancreas; Neoplasm of the rectum; Neoplasm of the skeletal system; Nevus flammeus; Nevus sebaceous; Nystagmus; Osteolysis; Osteopenia; Overgrowth; Palmoplantar keratoderma; Pancreatic adenocarcinoma; Pectus carinatum; Pectus excavatum; Peripheral axonal neuropathy; Plagiocephaly; Polyhydramnios; Poor appetite; Porencephalic cyst; Posteriorly rotated ears; Premature birth; Prominent occiput; Proptosis; Ptosis; Pulmonary arterial hypertension; Pulmonary artery stenosis; Pulmonic stenosis; Recurrent fractures; Reduced tendon reflexes; Retinopathy; Rigidity; Sagittal craniosynostosis; Scoliosis; Seizures; Short neck; Short nose; Short palm; Short palpebral fissure; Short stature; Slow-growing hair; Somatic mosaicism; Somatic mutation; Sparse hair; Sparse or absent eyelashes; Spasticity; Sporadic; Stomach cancer; Strabismus; Subcortical cerebral atrophy; Subcutaneous nodule; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Tricuspid valve prolapse; Underdeveloped supraorbital ridges; Ventricular septal defect; Ventriculomegaly; Vertebral segmentation defect; Visceral angiomatosis; Webbed neck; Weight loss; Wide intermamillary distance; XanthomatosisBone Marrow Failure Syndromes
PALB216p12.299.95%gene with protein product610355FANCNAbdominal pain; Abnormality of chromosome stability; Abnormality of the fallopian tube; Almond-shaped palpebral fissure; Anorexia; Aplasia/Hypoplasia of the radius; Aplastic anemia; Autosomal recessive inheritance; Back pain; Breast carcinoma; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Chronic fatigue; Epicanthus; Esophageal atresia; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Functional intestinal obstruction; Global developmental delay; Hypertelorism; Hypopigmented skin patches; Intellectual disability; Intestinal pseudo-obstruction; Irregular hyperpigmentation; Jaundice; Leukopenia; Lymphadenopathy; Medulloblastoma; Microcephaly; Ovarian neoplasm; Pancreatic adenocarcinoma; Poor appetite; Postnatal growth retardation; Primary peritoneal carcinoma; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short neck; Short palpebral fissure; Short stature; Short thumb; Thrombocytopenia; Tracheoesophageal fistula; Ventricular septal defect; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia ; VACTERL Association
PALLD4q32.399.99%gene with protein product608092Abdominal pain; Anorexia; Back pain; Chronic fatigue; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Functional intestinal obstruction; Intestinal pseudo-obstruction; Jaundice; Lymphadenopathy; Pancreatic adenocarcinoma; Poor appetite; Weight loss
POLG15q26.1100%gene with protein productVariants in the POLG gene that have a possible association with valproate-induced toxicity are not routinely reported by this test, but are available upon request.1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
SMAD418q21.2100%gene with protein product600993MADH42-3 toe syndactyly; Abdominal pain; Abnormal cardiac septum morphology; Abnormality of epiphysis morphology; Abnormality of the metaphysis; Abnormality of the pubic bone; Abnormality of the ribs; Abnormality of the voice; Anemia; Anorexia; Aortic valve stenosis; Autism; Autosomal dominant inheritance; Back pain; Blepharophimosis; Brachydactyly; Broad ribs; Camptodactyly; Cavernous hemangioma; Cholecystitis; Chronic fatigue; Clinodactyly; Coarctation of aorta; Cone-shaped epiphysis; Craniofacial hyperostosis; Cryptorchidism; Deeply set eye; EMG abnormality; Enlarged vertebral pedicles; Epistaxis; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Failure to thrive; Fine hair; Functional intestinal obstruction; Generalized muscle hypertrophy; Global developmental delay; Hamartomatous polyposis; Hearing impairment; Hematochezia; High hypermetropia; Hypermetropia; Hypertelorism; Hypertension; Hypoalbuminemia; Hypokalemia; Hypoplasia of the maxilla; Hypoplastic iliac wing; Increased level of L-fucose in urine; Intellectual disability; Intestinal pseudo-obstruction; Intrauterine growth retardation; Jaundice; Joint stiffness; Large iliac wings; Laryngotracheal stenosis; Limitation of joint mobility; Low-set ears; Lymphadenopathy; Malar flattening; Mandibular prognathia; Microcephaly; Microcytic anemia; Microtia; Midface retrusion; Migraine; Multiple gastric polyps; Narrow mouth; Neoplasm of the pancreas; Overlapping toe; Pancreatic adenocarcinoma; Patent ductus arteriosus; Pericardial effusion; Platyspondyly; Poor appetite; Portal hypertension; Prominent nasal bridge; Ptosis; Radial deviation of finger; Seizures; Severe short stature; Short finger; Short long bone; Short neck; Short palm; Short palpebral fissure; Short philtrum; Short stature; Short toe; Skeletal muscle hypertrophy; Somatic mutation; Sparse hair; Specific learning disability; Spontaneous hematomas; Stiff skin; Strabismus; Telangiectasia of the skin; Thick eyebrow; Thickened calvaria; Thickened skin; Thin upper lip vermilion; Thin vermilion border; Vertebral fusion; Visceral angiomatosis; Weight loss
TP5317p13.1100%gene with protein product191170Abdominal pain; Abnormal lactate dehydrogenase activity; Abnormal platelet morphology; Abnormal serum dehydroepiandrosterone level; Abnormality of metabolism/homeostasis; Abnormality of reproductive system physiology; Abnormality of the fallopian tube; Abnormality of the femoral metaphysis; Abnormality of the tibial metaphysis; Acute leukemia; Adrenocortical carcinoma; Adrenocorticotropic hormone deficiency; Amaurosis fugax; Anorexia; Anxiety; Arterial thrombosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Back pain; Breast carcinoma; Chest pain; Choroid plexus papilloma; Chronic fatigue; Colon cancer; Diabetes mellitus; Elevated alkaline phosphatase; Elevated serum 11-deoxycortisol; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Functional intestinal obstruction; Headache; Hepatocellular carcinoma; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; Hydrocephalus; Hyperaldosteronism; Hyperhidrosis; Hypertension; Hypertrichosis; Hypokalemia; Increased body weight; Increased level of L-fucose in urine; Increased megakaryocyte count; Increased serum androstenedione; Increased serum estradiol; Increased urinary cortisol level; Intestinal pseudo-obstruction; Irritability; Jaundice; Joint swelling; Lung adenocarcinoma; Lymphadenopathy; Lymphoma; Micronodular cirrhosis; Muscle weakness; Myocardial infarction; Nausea; Neoplasia of the nasopharynx; Neoplasm of the adrenal cortex; Neoplasm of the colon; Neoplasm of the nervous system; Neoplasm of the pancreas; Neoplasm of the skin; Neoplasm of the stomach; Nephroblastoma; Osteolysis; Osteosarcoma; Ovarian neoplasm; Pain; Palpitations; Pancreatic adenocarcinoma; Panic attack; Papilledema; Paradoxical increased cortisol secretion on dexamethasone suppression test; Paresthesia; Polygenic inheritance; Poor appetite; Primary peritoneal carcinoma; Progressive encephalopathy; Prolonged bleeding time; Prostate cancer; Prostate neoplasm; Renal cell carcinoma; Retinoblastoma; Seizures; Soft tissue sarcoma; Somatic mutation; Splenomegaly; Striae distensae; Subacute progressive viral hepatitis; Transient ischemic attack; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma; Venous thrombosis; Vomiting; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes
TWNK10q24.31100%gene with protein productFormer name = C10orf2606075IOSCA, C10orf2Abnormality of movement; Abnormality of the autonomic nervous system; Adult onset; Areflexia; Ataxia; Athetosis; Atrophy/Degeneration affecting the brainstem; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Clumsiness; Cognitive impairment; Cytochrome C oxidase-negative muscle fibers; Dementia; Depressivity; Dilated cardiomyopathy; Dysarthria; Dysphagia; Dysphonia; EMG: myopathic abnormalities; Epilepsia partialis continua; Epileptic encephalopathy; Excessive daytime somnolence; Exercise intolerance; Fatigue; Gait disturbance; Gastroparesis; Generalized hypotonia; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hypergonadotropic hypogonadism; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased serum lactate; Increased serum pyruvate; Increased variability in muscle fiber diameter; Intellectual disability; Intestinal pseudo-obstruction; Limb muscle weakness; Loss of ability to walk; Migraine; Mildly elevated creatine phosphokinase; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscle weakness; Myalgia; Myoclonus; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Poor eye contact; Positive Romberg sign; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Proximal muscle weakness; Psychosis; Ptosis; Ragged-red muscle fibers; Reduced tendon reflexes; Seizures; Sensorineural hearing impairment; Sensory ataxia; Sensory ataxic neuropathy; Sensory axonal neuropathy; Specific learning disability; Subsarcolemmal accumulations of abnormally shaped mitochondria; Vestibular dysfunction


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