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
Poor appetite

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABL19q34.12100%gene with protein product189980ABLAbnormality of basophils; Fatigue; Fever; Leukocytosis; Myeloproliferative disorder; Poor appetite; Splenomegaly; Thrombocytopenia; Thrombocytosis
ATRXXq21.199.92%gene with protein product300032, 300504RAD54, JMS, MRX52Abnormal hemoglobin; Abnormality of blood and blood-forming tissues; Abnormality of fontanelles; Abnormality of metabolism/homeostasis; Absent frontal sinuses; Ambiguous genitalia; Anorexia; Anteverted nares; Autism; Brachydactyly; Bruising susceptibility; Cerebral atrophy; Clinodactyly; Coarse facial features; Constipation; Coxa valga; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Drooling; Dysphasia; Dyspnea; Epicanthus; Episodic abdominal pain; Everted lower lip vermilion; Exotropia; Fatigue; Flat face; Gastroesophageal reflux; Genu valgum; Global developmental delay; Hemivertebrae; Hemoglobin H; High palate; Hydronephrosis; Hyperactivity; Hyperreflexia; Hypertelorism; Hypochromic microcytic anemia; Hypogonadism; Hypoplasia of penis; Hypoplastic philtrum; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intermittent diarrhea; Iron deficiency anemia; Kyphoscoliosis; Low-set ears; Lower limb hypertonia; Macroglossia; Malar flattening; Male pseudohermaphroditism; Microcephaly; Microcytic anemia; Micrognathia; Micropenis; Microtia; Midface retrusion; Muscular hypotonia; Myelodysplasia; Narrow forehead; Nausea and vomiting; Neutropenia; Open mouth; Optic atrophy; Paroxysmal bursts of laughter; Perimembranous ventricular septal defect; Pes planus; Phenotypic variability; Poor appetite; Posteriorly rotated ears; Postnatal growth retardation; Profound global developmental delay; Protruding tongue; Ptosis; Radial deviation of finger; Reduced alpha/beta synthesis ratio; Renal agenesis; Renal hypoplasia; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Shawl scrotum; Short neck; Short nose; Short stature; Short upper lip; Slender finger; Spasticity; Talipes calcaneovalgus; Talipes equinovarus; Tapered finger; Telecanthus; Tented upper lip vermilion; Thick lower lip vermilion; Thin upper lip vermilion; Thrombocytopenia; Triangular nasal tip; U-Shaped upper lip vermilion; Umbilical hernia; Upslanted palpebral fissure; Vesicoureteral reflux; Vomiting; Weight loss; Wide mouth; Wide nasal bridge; Widely-spaced maxillary central incisors; X-linked dominant inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
BCR22q11.2399.83%gene with protein product151410D22S11, BCR1Abnormality of basophils; Abnormality of earlobe; Absent fingernail; Absent toenail; Acute lymphoblastic leukemia; Chronic myelogenous leukemia; Clinodactyly of the 5th finger; Deeply set eye; Fatigue; Fever; Global developmental delay; Highly arched eyebrow; Intellectual disability; Intrauterine growth retardation; Language impairment; Leukocytosis; Microcephaly; Myeloproliferative disorder; Neoplasm; Pes planus; Ph-positive acute lymphoblastic leukemia; Pointed chin; Polygenic inheritance; Poor appetite; Premature birth; Short stature; Smooth philtrum; Somatic mutation; Splenomegaly; Thin upper lip vermilion; Thrombocytopenia; Thrombocytosis; Truncus arteriosus; Underdeveloped nasal alae
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
DAXX6p21.3299.99%gene with protein product603186Anorexia; Episodic abdominal pain; Intermittent diarrhea; Iron deficiency anemia; Nausea and vomiting; Poor appetite; Weight loss
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
KRT112q13.1399.88%gene with protein product139350EHK1Abnormal blistering of the skin; Abnormality of metabolism/homeostasis; Abnormality of the fingernails; Abnormality of the hair; Abnormality of the nail; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital bullous ichthyosiform erythroderma; Cutaneous photosensitivity; Diffuse palmoplantar keratoderma; Eczema; Epidermal acanthosis; Erythema; Erythroderma; Flexion contracture; Hyperhidrosis; Ichthyosis; Increased IgE level; Localized epidermolytic hyperkeratosis; Nail dystrophy; Nonepidermolytic palmoplantar keratoderma; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Poor appetite; Recurrent skin infections; Scaling skin; Verrucae; Weight lossEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
KRT1017q21.2100%gene with protein product148080KPPAbnormal blistering of the skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital bullous ichthyosiform erythroderma; Cutaneous photosensitivity; Epidermal acanthosis; Erythema; Erythroderma; Palmoplantar hyperkeratosis; Poor appetite; Scaling skin; Weight lossPalmoplantar keratoderma plus congenital ichthyosis
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
PCCA13q32.399.97%gene with protein product232000Abnormality of immune system physiology; Acute encephalopathy; Anemia; Apnea; Arrhythmia; Autosomal recessive inheritance; Cardiomyopathy; Cerebral atrophy; Coma; Constipation; Dehydration; Dystonia; Eczema; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Hyperglycinuria; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Lactic acidosis; Lethargy; Limb hypertonia; Metabolic acidosis; Muscular hypotonia of the trunk; Neutropenia; Organic aciduria; Osteoporosis; Pancreatitis; Pancytopenia; Poor appetite; Propionyl-CoA carboxylase deficiency; Seizures; Short stature; Tachypnea; Thrombocytopenia; Vomiting
PCCB3q22.3100%gene with protein product232050Abnormality of immune system physiology; Acute encephalopathy; Anemia; Apnea; Arrhythmia; Autosomal recessive inheritance; Cardiomyopathy; Cerebral atrophy; Coma; Constipation; Dehydration; Dystonia; Eczema; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Hyperglycinuria; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Lactic acidosis; Lethargy; Limb hypertonia; Metabolic acidosis; Muscular hypotonia of the trunk; Neutropenia; Organic aciduria; Osteoporosis; Pancreatitis; Pancytopenia; Poor appetite; Propionyl-CoA carboxylase deficiency; Seizures; Short stature; Tachypnea; Thrombocytopenia; Vomiting
PIK3R15q13.199.16%gene with protein product171833Abnormal pupil morphology; Abnormality of dental enamel; Abnormality of the immune system; Agammaglobulinemia; Alopecia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Birth length less than 3rd percentile; Cataract; Chronic otitis media; Clinodactyly; Conjunctivitis; Cough; Decreased antibody level in blood; Deeply set eye; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Dental malocclusion; Diabetes mellitus; Diarrhea; Dimple chin; Downturned corners of mouth; Enlarged epiphyses; Excessive wrinkled skin; Failure to thrive; Fatigue; Fever; Frontal bossing; Glaucoma; Glucose intolerance; Hyperglycemia; Hypodontia; Hypoplasia of the iris; Hypotrichosis; Immunodeficiency; Infantile onset; Inguinal hernia; Insulin resistance; Insulin-resistant diabetes mellitus; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Lipoatrophy; Lipodystrophy; Macrotia; Megalocornea; Microdontia; Micrognathia; Midface retrusion; Myopia; Neurological speech impairment; Neutropenia; Osteomyelitis; Poor appetite; Premature skin wrinkling; Prominent forehead; Radial deviation of finger; Recurrent bacterial infections; Recurrent respiratory infections; Recurrent skin infections; Rieger anomaly; Sensorineural hearing impairment; Severe short stature; Sinusitis; Skin rash; Small for gestational age; Telecanthus; Thin skin; Triangular face; Underdeveloped nasal alae; Weight loss; Wide nasal bridgeAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
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
RHBDF217q25.3100%gene with protein product614404RHBDL6, TOCAbnormality of the large intestine; Abnormality of the mediastinum; Abnormality of the mouth; Ascites; Autosomal dominant inheritance; Diffuse palmoplantar hyperkeratosis; Dysphagia; Esophageal carcinoma; Esophageal neoplasm; Gastroesophageal reflux; Gastrointestinal hemorrhage; Hepatomegaly; Nausea and vomiting; Palmoplantar keratoderma; Parakeratosis; Poor appetite; Poor suck; Weight lossPalmoplantar keratoderma plus congenital ichthyosis
RRM2B8q22.399.95%gene with protein product604712Abdominal distention; Abdominal pain; Abnormality of retinal pigmentation; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Aminoaciduria; Anterior hypopituitarism; Ataxia; Atrophic muscularis propria; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Demyelinating peripheral neuropathy; Depressivity; Diarrhea; Distal muscle weakness; Dysarthria; Dysphagia; Easy fatigability; Elevated hepatic transaminases; EMG abnormality; Exercise intolerance; External ophthalmoplegia; Failure to thrive; Feeding difficulties; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Hearing impairment; Hyperalaninemia; Increased CSF protein; Increased muscle fatiguability; Intellectual disability; Lactic acidosis; Leukoencephalopathy; Multiple mitochondrial DNA deletions; Muscular hypotonia; Nausea; Paresthesia; Peripheral axonal neuropathy; Poor appetite; Progressive; Progressive external ophthalmoplegia; Progressive intervertebral space narrowing; Progressive neurologic deterioration; Proximal tubulopathy; Ptosis; Ragged-red muscle fibers; Reduced tendon reflexes; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Skeletal muscle atrophy; Small intestinal dysmotility; Third degree atrioventricular block; VomitingRhabdomyolysis
RUNX121q22.12100%gene with protein product151385AML1, CBFA2Abnormality of basophils; Acute monocytic leukemia; Acute myeloid leukemia; Autosomal dominant inheritance; Bruising susceptibility; Epistaxis; Fatigue; Fever; Impaired platelet aggregation; Leukocytosis; Lymphoma; Myelodysplasia; Myeloproliferative disorder; Neuroblastoma; Poor appetite; Prolonged bleeding time; Splenomegaly; Thrombocytopenia; ThrombocytosisAplastic Anemia ; Bone Marrow Failure Syndromes
SLC25A263p14.199.97%gene with protein product611037Abdominal pain; Autosomal recessive inheritance; Congestive heart failure; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex IV; Decreased fetal movement; Fatigue; Global developmental delay; Increased serum lactate; Infantile onset; Muscle weakness; Polyhydramnios; Poor appetite; Ragged-red muscle fibers; Respiratory failure; Severe lactic acidosis; Variable expressivity
SLC2A23q26.2100%gene with protein product138160GLUT2Abdominal distention; Autosomal recessive inheritance; Chronic acidosis; Elevated alkaline phosphatase; Failure to thrive; Generalized aminoaciduria; Global developmental delay; Glycosuria; Hyperphosphaturia; Hypokalemia; Hypophosphatemia; Hypouricemia; Impairment of galactose metabolism; Malabsorption; Osteomalacia; Poor appetite; Reduced subcutaneous adipose tissue; Renal tubular dysfunctionInflammatory Bowel Disease
SLC39A48q24.3100%gene with protein product607059AEZAbnormal blistering of the skin; Abnormal eyebrow morphology; Alopecia; Alopecia of scalp; Ataxia; Autosomal recessive inheritance; Blepharitis; Cerebral cortical atrophy; Cheilitis; Chronic diarrhea; Conjunctivitis; Decreased taste sensation; Decreased testicular size; Decreased testosterone in males; Diarrhea; Dry skin; Emotional lability; Erythema; Failure to thrive; Furrowed tongue; Glossitis; Hepatomegaly; Hypogonadism; Impaired T cell function; Infantile onset; Irritability; Lethargy; Low alkaline phosphatase; Malabsorption; Paronychia; Photophobia; Poor appetite; Pustule; Recurrent candida infections; Ridged fingernail; Ridged nail; Short stature; Skin ulcer; Splenomegaly; TremorPalmoplantar keratoderma plus congenital ichthyosis
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
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
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
TYMP22q13.33100%gene with protein product131222MNGIE, ECGF1Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Areflexia; Atrophic muscularis propria; Autosomal recessive inheritance; Cachexia; Constipation; 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; Demyelinating peripheral neuropathy; Diarrhea; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysphagia; Easy fatigability; Elevated hepatic transaminases; External ophthalmoplegia; Foot dorsiflexor weakness; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Hyperalaninemia; Hypointensity of cerebral white matter on MRI; Increased CSF protein; Intermittent diarrhea; Lactic acidosis; Leukoencephalopathy; Malabsorption; Malnutrition; Mitochondrial myopathy; Multiple mitochondrial DNA deletions; Nausea; Paresthesia; Peripheral axonal neuropathy; Poor appetite; Progressive; Progressive external ophthalmoplegia; Ptosis; Ragged-red muscle fibers; Sensorimotor neuropathy; Sensorineural hearing impairment; Small intestinal dysmotility; Subsarcolemmal accumulations of abnormally shaped mitochondria; Vomiting


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