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
Type II diabetes mellitus

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCC811p15.1100%gene with protein product600509SUR, HRINSAbnormal heart morphology; Abnormality of fatty-acid metabolism; Abnormality of the ear; Abnormality of the immune system; Abnormality of the pancreatic islet cells; Anteverted nares; Arthrogryposis multiplex congenita; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Coma; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Diarrhea; Downturned corners of mouth; Drowsiness; Elevated hemoglobin A1c; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperreflexia; Hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Insulin resistance; Intellectual disability; Intrauterine growth retardation; Irritability; Ketoacidosis; Ketonuria; Large for gestational age; Late onset; Lethargy; Limb joint contracture; Long philtrum; Microalbuminuria; Microcephaly; Mild global developmental delay; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal hypoglycemia; Neonatal insulin-dependent diabetes mellitus; Pallor; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Progressive neurologic deterioration; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Spasticity; Strabismus; Tachycardia; Transient neonatal diabetes mellitus; Type II diabetes mellitus; Vitamin B1 deficiency; Vomiting; Weight loss
AKT219q13.2100%gene with protein product164731Abnormal circulating insulin level; Acanthosis nigricans; Autosomal dominant inheritance; Autosomal recessive inheritance; Decreased adiponectin level; Decreased serum leptin; Enlarged tonsils; Gynecomastia; Hemihypertrophy; Hepatic steatosis; Hepatomegaly; Hypertriglyceridemia; Hypoglycemic coma; Hypoglycemic seizures; Hypoketotic hypoglycemia; Increased hepatic glycogen content; Increased intraabdominal fat; Insulin resistance; Insulin-resistant diabetes mellitus; Large for gestational age; Late onset; Lipodystrophy; Neonatal hypoglycemia; Nonketotic hypoglycemia; Oligomenorrhea; Polycystic ovaries; Seizures; Truncal obesity; Type II diabetes mellitus
ALMS12p13.199.77%gene with protein product606844Abnormal chorioretinal morphology; Abnormality of the dentition; Abnormality of the hand; Acanthosis nigricans; Accelerated skeletal maturation; Alopecia; Asthma; Atherosclerosis; Autosomal recessive inheritance; Blindness; Cataract; Chronic active hepatitis; Chronic otitis media; Cone/cone-rod dystrophy; Congestive heart failure; Constriction of peripheral visual field; Death in early adulthood; Decreased circulating high-density lipoprotein levels; Diabetes insipidus; Dilated cardiomyopathy; Elevated hepatic transaminases; Gingivitis; Global developmental delay; Growth hormone deficiency; Gynecomastia; Hepatic steatosis; Hepatomegaly; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperostosis frontalis interna; Hypertension; Hypertriglyceridemia; Hyperuricemia; Hypothyroidism; Insulin resistance; Insulin-resistant diabetes mellitus; Kyphosis; Menstrual irregularities; Multinodular goiter; Nephritis; Nystagmus; Otitis media; Pes planus; Photophobia; Pigmentary retinopathy; Progressive sensorineural hearing impairment; Progressive visual loss; Pulmonary arterial hypertension; Recurrent pneumonia; Recurrent respiratory infections; Renal insufficiency; Respiratory insufficiency; Scoliosis; Short stature; Subcapsular cataract; Truncal obesity; Tubulointerstitial nephritis; Type II diabetes mellitusBardet-Biedl Syndrome ; Obesity
AMACR5p13.2100%gene with protein product604489Abnormality of the coagulation cascade; Autosomal recessive inheritance; Biliary tract abnormality; Cholestasis; Depressivity; Elevated hepatic transaminases; Failure to thrive; Fat malabsorption; Giant cell hepatitis; Hepatic failure; Hepatomegaly; Hyperbilirubinemia; Hypergonadotropic hypogonadism; Intrahepatic cholestasis; Migraine; Neonatal onset; Peripheral neuropathy; Phenotypic variability; Pigmentary retinopathy; Prolonged neonatal jaundice; Sensorimotor neuropathy; Spasticity; Status epilepticus; Type II diabetes mellitus; Visual impairment
BLM15q26.199.99%gene with protein product604610Abnormality of chromosome stability; Agenesis of maxillary lateral incisor; Autosomal recessive inheritance; Azoospermia; Bronchiectasis; Cafe-au-lait spot; Chromosome breakage; Chronic lung disease; Clinodactyly of the 5th finger; Cryptorchidism; Cutaneous photosensitivity; Decreased fertility in females; Delayed skeletal maturation; Diarrhea; Dolichocephaly; Erythema; Facial telangiectasia in butterfly midface distribution; Hand polydactyly; High pitched voice; Hypertrichosis; Hypoplasia of the zygomatic bone; IgA deficiency; IgG deficiency; IgM deficiency; Intrauterine growth retardation; Leukemia; Lymphoma; Malar flattening; Microcephaly; Narrow face; Postnatal growth retardation; Prominent nose; Protruding ear; Recurrent respiratory infections; Short nose; Short stature; Sinusitis; Specific learning disability; Spotty hyperpigmentation; Spotty hypopigmentation; Squamous cell carcinoma; Syndactyly; Type II diabetes mellitusBone Marrow Failure Syndromes ; Primary Immunodeficiency
CYP19A115q21.299.68%gene with protein product107910CYP19Acanthosis nigricans; Accelerated skeletal maturation; Ambiguous genitalia, female; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Cryptorchidism; Delayed epiphyseal ossification; Delayed skeletal maturation; Enlarged polycystic ovaries; Eunuchoid habitus; Female infertility; Female pseudohermaphroditism; Generalized hirsutism; Genu valgum; Growth delay; Gynecomastia; Hepatic steatosis; Hypergonadotropic hypogonadism; Hyperlipidemia; Insulin resistance; Macroorchidism, postpubertal; Male infertility; Maternal virilization in pregnancy; Obesity; Osteopenia; Osteoporosis; Ovarian cyst; Primary amenorrhea; Short stature; Tall stature; Type II diabetes mellitusDisorders of Sex Development
GCK7p13100%gene with protein product138079MODY2Abnormal C-peptide level; Abnormal heart morphology; Abnormality of the ear; Abnormality of the immune system; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Downturned corners of mouth; Failure to thrive; Fasting hyperinsulinemia; Fatigue; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hand tremor; Heterogeneous; Hyperglycemia; Hyperinsulinemic hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Insulin resistance; Intellectual disability; Intrauterine growth retardation; Ketoacidosis; Ketonuria; Late onset; Limb joint contracture; Long philtrum; Maturity-onset diabetes of the young; Microalbuminuria; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal insulin-dependent diabetes mellitus; Peripheral neuropathy; Prominent metopic ridge; Ptosis; Radial deviation of finger; Recurrent hypoglycemia; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Type II diabetes mellitus; Weight loss
GLRX514q32.13100%gene with protein product609588C14orf87Anemia; Anisocytosis; Autosomal recessive inheritance; Babinski sign; Conjugated hyperbilirubinemia; Decreased activity of the pyruvate dehydrogenase complex; Decreased mean corpuscular volume; Dysarthria; Elevated hepatic iron concentration; Elevated hepatic transaminases; Erythroid hyperplasia; Gait disturbance; Hepatomegaly; Hepatosplenomegaly; Heterogeneous; Hyperglycinemia; Hyperreflexia; Hypoplasia of the corpus callosum; Increased serum ferritin; Infantile onset; Jaundice; Leukodystrophy; Nystagmus; Optic atrophy; Seizures; Spastic ataxia; Spastic diplegia; Splenomegaly; Strabismus; Type II diabetes mellitus; Visual impairmentAplastic Anemia ; Bone Marrow Failure Syndromes
HNF1A12q24.31100%gene with protein product142410MODY3, TCF1Abnormality of fatty-acid metabolism; Agitation; Autosomal dominant inheritance; Coma; Diarrhea; Drowsiness; Elevated hepatic transaminases; Fasting hypoglycemia; Fatigue; Hepatocellular adenoma; Hepatomegaly; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hypoketotic hypoglycemia; Infantile onset; Intellectual disability; Large for gestational age; Lethargy; Maturity-onset diabetes of the young; Neonatal hypoglycemia; Neonatal hypotonia; Pallor; Pancreatic islet-cell hyperplasia; Polycystic ovaries; Progressive neurologic deterioration; Renal cell carcinoma; Seizures; Sporadic; Tachycardia; Tremor; Type I diabetes mellitus; Type II diabetes mellitus; Vomiting
HNF1B17q12100%gene with protein product189907TCF2Atretic vas deferens; Autosomal dominant inheritance; Biliary tract abnormality; Cerebral cortical atrophy; Decreased numbers of nephrons; Diabetes mellitus; Elevated hepatic transaminases; Elevated serum creatinine; Epididymal cyst; Glucose intolerance; Glycosuria; Gout; Hypospadias; Insulin resistance; Late onset; Multicystic kidney dysplasia; Nephrolithiasis; Onset; Phenotypic variability; Proteinuria; Reduced sperm motility; Short stature; Stage 5 chronic kidney disease; Type II diabetes mellitus; Ureteropelvic junction obstructionCongenital Kidney and Urinary Tract (CKUT) Anomalies
INSR19p13.2100%gene with protein product147670Abdominal distention; Abnormal C-peptide level; Abnormal facial shape; Abnormality of the abdominal wall; Abnormality of the thyroid gland; Acanthosis nigricans; Accelerated skeletal maturation; Adipose tissue loss; Advanced eruption of teeth; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Cachexia; Cholestasis; Clitoral hypertrophy; Coarse facial features; Coarse hair; Cognitive impairment; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Diabetes mellitus; Diabetic ketoacidosis; Dry skin; Elfin facies; Fasting hyperinsulinemia; Fasting hypoglycemia; Fatigue; Feeding difficulties in infancy; Female pseudohermaphroditism; Generalized hirsutism; Generalized hyperpigmentation; Gingival overgrowth; Global developmental delay; Growth hormone excess; Gynecomastia; Hearing abnormality; Hepatic fibrosis; Heterogeneous; High palate; High, narrow palate; Hyperglycemia; Hyperinsulinemia; Hyperinsulinemic hypoglycemia; Hyperkeratosis; Hypermelanotic macule; Hypertelorism; Hypertrichosis; Hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Inguinal hernia; Insulin-resistant diabetes mellitus; Intrauterine growth retardation; Large hands; Lipoatrophy; Long foot; Long penis; Low-set ears; Low-set, posteriorly rotated ears; Macrotia; Mandibular prognathia; Nail dysplasia; Onychauxis; Ovarian cyst; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Postnatal growth retardation; Postprandial hyperglycemia; Precocious puberty; Prematurely aged appearance; Prominent nipples; Proptosis; Proteinuria; Recurrent hypoglycemia; Recurrent infections; Recurrent respiratory infections; Seizures; Severe failure to thrive; Short stature; Skeletal muscle atrophy; Small face; Small for gestational age; Subcutaneous nodule; Thick lower lip vermilion; Thick nail; Thick nasal alae; Thickened nuchal skin fold; Type II diabetes mellitus; Umbilical hernia; Wide mouthObesity
INSR19p13.2100%gene with protein product147670Abdominal distention; Abnormal C-peptide level; Abnormal facial shape; Abnormality of the abdominal wall; Abnormality of the thyroid gland; Acanthosis nigricans; Accelerated skeletal maturation; Adipose tissue loss; Advanced eruption of teeth; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Cachexia; Cholestasis; Clitoral hypertrophy; Coarse facial features; Coarse hair; Cognitive impairment; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Diabetes mellitus; Diabetic ketoacidosis; Dry skin; Elfin facies; Fasting hyperinsulinemia; Fasting hypoglycemia; Fatigue; Feeding difficulties in infancy; Female pseudohermaphroditism; Generalized hirsutism; Generalized hyperpigmentation; Gingival overgrowth; Global developmental delay; Growth hormone excess; Gynecomastia; Hearing abnormality; Hepatic fibrosis; Heterogeneous; High palate; High, narrow palate; Hyperglycemia; Hyperinsulinemia; Hyperinsulinemic hypoglycemia; Hyperkeratosis; Hypermelanotic macule; Hypertelorism; Hypertrichosis; Hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Inguinal hernia; Insulin-resistant diabetes mellitus; Intrauterine growth retardation; Large hands; Lipoatrophy; Long foot; Long penis; Low-set ears; Low-set, posteriorly rotated ears; Macrotia; Mandibular prognathia; Nail dysplasia; Onychauxis; Ovarian cyst; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Postnatal growth retardation; Postprandial hyperglycemia; Precocious puberty; Prematurely aged appearance; Prominent nipples; Proptosis; Proteinuria; Recurrent hypoglycemia; Recurrent infections; Recurrent respiratory infections; Seizures; Severe failure to thrive; Short stature; Skeletal muscle atrophy; Small face; Small for gestational age; Subcutaneous nodule; Thick lower lip vermilion; Thick nail; Thick nasal alae; Thickened nuchal skin fold; Type II diabetes mellitus; Umbilical hernia; Wide mouthObesity
KLF112p25.1100%gene with protein product603301TIEG2Autosomal dominant inheritance; Maturity-onset diabetes of the young; Type II diabetes mellitus
LMNA1q22100%gene with protein product150330LMN1, CMD1A, LGMD1B, PRO1, LMNL1Abnormal atrioventricular conduction; Abnormal cellular phenotype; Abnormal electrophysiology of sinoatrial node origin; Abnormal eyebrow morphology; Abnormal hair whorl; Abnormal trabecular bone morphology; Abnormality of circulating leptin level; Abnormality of retinal pigmentation; Abnormality of the Achilles tendon; Abnormality of the cerebral vasculature; Abnormality of the foot; Abnormality of the intrahepatic bile duct; Abnormality of the nail; Abnormality of the pinna; Abnormality of the pulmonary artery; Abnormality of the testis; Abnormality of the voice; Absence of pubertal development; Absence of subcutaneous fat; Absent eyebrow; Absent eyelashes; Acanthosis nigricans; Accelerated atherosclerosis; Achilles tendon contracture; Acroosteolysis of distal phalanges (feet); Acute pancreatitis; Adipose tissue loss; Adrenal hypoplasia; Advanced eruption of teeth; Alopecia; Alopecia universalis; Aminoaciduria; Angina pectoris; Aortic atherosclerosis; Aortic root aneurysm; Aortic valve calcification; Aortic valve stenosis; Aplasia of the middle phalanx of the hand; Aplasia of the phalanges of the 3rd toe; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Areflexia; Arrhythmia; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atherosclerosis; Atrial arrhythmia; Atrial fibrillation; Atrial flutter; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Axonal degeneration/regeneration; Basal cell carcinoma; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brachydactyly; Bradycardia; Broad-based gait; Calcinosis; Calf muscle hypertrophy; Choanal atresia; Chondrocalcinosis; Clinodactyly; Congenital muscular dystrophy; Congenital pseudoarthrosis of the clavicle; Congestive heart failure; Convex nasal ridge; Coronary artery atherosclerosis; Craniofacial disproportion; Cyanosis; Decreased adiponectin level; Decreased calvarial ossification; Decreased cervical spine flexion due to contractures of posterior cervical muscles; Decreased circulating high-density lipoprotein levels; Decreased fertility; Decreased fetal movement; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum leptin; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Delayed puberty; Dental crowding; Dermal atrophy; Dermal translucency; Diabetes mellitus; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Downslanted palpebral fissures; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Emphysema; Enlarged peripheral nerve; Entropion; Epidermal hyperkeratosis; Failure to thrive; Fasting hyperinsulinemia; Fatiguable weakness of proximal limb muscles; Feeding difficulties; Flexion contracture; Foot dorsiflexor weakness; Fragile nails; Full cheeks; Gait disturbance; Generalized amyotrophy; Generalized hyperkeratosis; Generalized lipodystrophy; Generalized osteoporosis; Global developmental delay; Glucose intolerance; Glycosuria; Growth delay; Hepatic steatosis; Hepatomegaly; Heterogeneous; High palate; High pitched voice; Hirsutism; Hydropic placenta; Hypercholesterolemia; Hyperglycemia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperkeratosis; Hyperlipidemia; Hyperlordosis; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypertension; Hypertriglyceridemia; Hypodontia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hyporeflexia; Hypospadias; Hypotrichosis; Increased adipose tissue around the neck; Increased anterioposterior diameter of thorax; Increased facial adipose tissue; Increased intraabdominal fat; Increased intramuscular fat; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intervertebral disc degeneration; Intracranial hemorrhage; Intrauterine growth retardation; Joint stiffness; Juvenile onset; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Labial pseudohypertrophy; Lack of skin elasticity; Large fontanelles; Laryngomalacia; Limb muscle weakness; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Limitation of joint mobility; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Malar flattening; Meningioma; Metaphyseal widening; Micrognathia; Midface retrusion; Mildly elevated creatine phosphokinase; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve calcification; Motor delay; Mottled pigmentation; Multiple joint contractures; Muscle hypertrophy of the lower extremities; Muscular dystrophy; Muscular hypotonia; Myalgia; Myocardial infarction; Myopathy; Nail dysplasia; Narrow face; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Neck muscle weakness; Neoplasm of the breast; Neoplasm of the lung; Neoplasm of the oral cavity; Neoplasm of the skin; Neoplasm of the small intestine; Neoplasm of the thyroid gland; Onion bulb formation; Onset; Osteoarthritis; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Osteosarcoma; Ovarian neoplasm; Overtubulated long bones; Ovoid vertebral bodies; Papillary renal cell carcinoma; Patchy hypo- and hyperpigmentation; Patent ductus arteriosus; Pelvic girdle amyotrophy; Pelvic girdle muscle weakness; Pericardial effusion; Peripheral arterial stenosis; Peripheral axonal atrophy; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Pili torti; Polycystic ovaries; Polyhydramnios; Poor head control; Postnatal growth retardation; Precocious atherosclerosis; Precocious puberty; Premature arteriosclerosis; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature ovarian insufficiency; Premature rupture of membranes; Premature skin wrinkling; Progeroid facial appearance; Progressive; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Prominent superficial veins; Proptosis; Proximal muscle weakness; Proximal muscle weakness in upper limbs; Proximal upper limb muscle hypertrophy; Ptosis; Pulmonary carcinoid tumor; Pulmonary hypoplasia; Reduced subcutaneous adipose tissue; Renal neoplasm; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Reticulated skin pigmentation; Retinal degeneration; Retrognathia; Rocker bottom foot; Round face; Scaling skin; Scapular winging; Scleroderma; Sclerosis of hand bone; Secondary amenorrhea; Sensorineural hearing impairment; Severe muscular hypotonia; Short clavicles; Short distal phalanx of finger; Short nail; Short palm; Short palpebral fissure; Short stature; Short umbilical cord; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Skin erosion; Skin ulcer; Slow progression; Small placenta; Sparse and thin eyebrow; Sparse body hair; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Sparse scalp hair; Spinal rigidity; Squamous cell carcinoma of the skin; Steppage gait; Stiff skin; Stillbirth; Structural foot deformity; Subcutaneous calcification; Submucous cleft hard palate; Sudden cardiac death; Supraventricular arrhythmia; Syncope; Syndactyly; Talipes; Tapering pointed ends of distal finger phalanges; Telangiectasia of the skin; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Type II diabetes mellitus; Upper limb muscle weakness; Ureteral duplication; Variable expressivity; Ventricular arrhythmia; Ventricular hypertrophy; White forelock; Wide nasal bridge; Widely patent fontanelles and sutures; Wormian bones; X-linked inheritance; XanthomatosisHeterotaxy ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
PAX47q32.1100%gene with protein product167413Autosomal dominant inheritance; Insulin resistance; Late onset; Maturity-onset diabetes of the young; Type II diabetes mellitus
PCNT21q22.3100%gene with protein product605925PCNT2Abnormality of dental enamel; Abnormality of epiphysis morphology; Abnormality of female external genitalia; Abnormality of the metaphysis; Absent earlobe; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines; Autosomal recessive inheritance; Brachydactyly; Cachexia; Cafe-au-lait spot; Clinodactyly of the 5th finger; Cognitive impairment; Cone-shaped epiphysis; Convex nasal ridge; Coxa vara; Craniosynostosis; Delayed skeletal maturation; Dilatation of the cerebral artery; Disproportionate short stature; Downslanted palpebral fissures; Dry skin; Fine hair; Flared metaphysis; Full cheeks; Glaucoma; Global developmental delay; High pitched voice; Hip dysplasia; Hypermetropia; Hypopigmented skin patches; Hypoplasia of dental enamel; Hypoplastic iliac wing; Hypospadias; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Low-set ears; Microcephaly; Microdontia; Micrognathia; Micromelia; Microtia; Mild global developmental delay; Moyamoya phenomenon; Multiple cafe-au-lait spots; Narrow face; Narrow pelvis bone; Nasal speech; Postnatal growth retardation; Precocious puberty; Prematurely aged appearance; Prominent nasal bridge; Prominent nose; Proximal femoral epiphysiolysis; Pseudoepiphyses of the metacarpals; Radial bowing; Reduced number of teeth; Retrognathia; Sandal gap; Scoliosis; Sensorineural hearing impairment; Short 1st metacarpal; Short distal phalanx of finger; Short stature; Slender long bone; Sloping forehead; Sparse scalp hair; Tibial bowing; Truncal obesity; Type II diabetes mellitus; Ulnar bowing; Underdeveloped nasal alae; Upslanted palpebral fissure; Wide nasal bridgeObesity
PDX113q12.2100%gene with protein product600733IPF1Abnormal heart morphology; Abnormality of the ear; Abnormality of the immune system; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Downturned corners of mouth; Exocrine pancreatic insufficiency; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hyperglycemia; Hypovolemia; Hypsarrhythmia; Intrauterine growth retardation; Ketoacidosis; Ketonuria; Limb joint contracture; Long philtrum; Maturity-onset diabetes of the young; Microalbuminuria; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal insulin-dependent diabetes mellitus; Pancreatic hypoplasia; Peripheral neuropathy; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Type II diabetes mellitus; Weight lossObesity
PPP1R3A7q31.199.57%gene with protein product600917PPP1R3Abnormality of the face; Abnormality of the musculature; Abnormality of the neck; Acanthosis nigricans; Autosomal dominant inheritance; Cirrhosis; Decreased circulating high-density lipoprotein levels; Hepatic steatosis; Hirsutism; Hyperglycemia; Hyperinsulinemia; Hypertension; Hypertriglyceridemia; Hyperuricemia; Insulin resistance; Insulin-resistant diabetes mellitus; Late onset; Lipodystrophy; Loss of gluteal subcutaneous adipose tissue; Loss of subcutaneous adipose tissue in limbs; Maternal diabetes; Oligomenorrhea; Preeclampsia; Primary amenorrhea; Prominent superficial veins; Reduced subcutaneous adipose tissue; Type II diabetes mellitus
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