XomeDxSlice Tool

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

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Phenotypes
Joint swelling

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AIP11q13.2100%gene with protein product605555Abdominal obesity; Abnormal fear/anxiety-related behavior; Abnormal toenail morphology; Abnormality of hair density; Abnormality of the fingernails; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Alkalosis; Amenorrhea; Anterior hypopituitarism; Anxiety; Arthralgia; Autosomal dominant inheritance; Biconcave vertebral bodies; Broad foot; Broad forehead; Broad jaw; Bruising susceptibility; Cardiomyopathy; Cerebral palsy; Coarse facial features; Cortical diaphyseal thickening of the upper limbs; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Deep palmar crease; Deep plantar creases; Depressivity; Diabetes mellitus; Dysmenorrhea; Dyspareunia; Easy fatigability; Edema; Facial erythema; Fatigue; Female hypogonadism; Frontal bossing; Full cheeks; Galactorrhea; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Gynecomastia; Headache; Hirsutism; Hoarse voice; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Impotence; Increased circulating ACTH level; Increased serum insulin-like growth factor 1; Joint swelling; Kyphosis; Large hands; Left ventricular hypertrophy; Long face; Long penis; Macrodactyly; Macroglossia; Macrotia; Male hypogonadism; Mandibular prognathia; Menstrual irregularities; Migraine; Mood changes; Nephrolithiasis; Oligomenorrhea; Osteoarthritis; Osteopenia; Osteoporosis; Pallor; Palpebral edema; Paresthesia; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary hypothyroidism; Pituitary prolactin cell adenoma; Poor wound healing; Progressive visual loss; Prolactin excess; Prolactinoma; Psychotic mentation; Purpura; Secondary growth hormone deficiency; Skeletal muscle atrophy; Sleep apnea; Somatic mutation; Spinal canal stenosis; Striae distensae; Symmetric great toe depigmentation; Synophrys; Tall stature; Tapered finger; Thick lower lip vermilion; Thin skin; Vertebral compression fractures; Vomiting; Wide nose; Widely spaced teethAutoimmune Disorders ; Obesity
ANKH5p15.2100%gene with protein product605145CCAL2, CMDJAbnormality of pelvic girdle bone morphology; Abnormality of the intervertebral disk; Abnormality of the metaphysis; Abnormality of the nasopharynx; Abnormality of the vertebral column; Adult onset; Arthralgia; Arthritis; Arthropathy; Autosomal dominant inheritance; Bony paranasal bossing; Calcification of cartilage; Calvarial osteosclerosis; Club-shaped distal femur; Craniofacial hyperostosis; Depressed nasal bridge; Erlenmeyer flask deformity of the femurs; Facial palsy; Hypertelorism; Joint swelling; Macrocephaly; Mandibular prognathia; Metaphyseal widening; Misalignment of teeth; Mixed hearing impairment; Nasal obstruction; Osteoarthritis; Osteopetrosis; Polyarticular chondrocalcinosis; Sclerosis of skull base; Skeletal dysplasia; Telecanthus; Wide nasal bridge
ANKRD555q11.2100%gene with protein product615189Antinuclear antibody positivity; Apraxia; Arthralgia; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis
ANKRD555q11.2100%gene with protein product615189Antinuclear antibody positivity; Apraxia; Arthralgia; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis
ASAH18p2299.9%gene with protein product613468ASAHAreflexia; Arthralgia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Cherry red spot of the macula; Decreased muscle mass; Degeneration of anterior horn cells; Dementia; Difficulty walking; EEG abnormality; EMG abnormality; Facial palsy; Failure to thrive; Frequent falls; Gait disturbance; Generalized myoclonic seizures; Gowers sign; Hepatomegaly; Hoarse cry; Intellectual disability; Irritability; Joint stiffness; Joint swelling; Juvenile onset; Kyphosis; Laryngomalacia; Lipogranulomatosis; Motor delay; Myoclonus; Neurological speech impairment; Nystagmus; Oral-pharyngeal dysphagia; Osteoporosis; Periarticular subcutaneous nodules; Progressive; Progressive distal muscular atrophy; Recurrent respiratory infections; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Scoliosis; Short stature; Spinal muscular atrophy; Splenomegaly; Tongue fasciculations; Tremor; Variable expressivity
ASAH18p2299.9%gene with protein product613468ASAHAreflexia; Arthralgia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Cherry red spot of the macula; Decreased muscle mass; Degeneration of anterior horn cells; Dementia; Difficulty walking; EEG abnormality; EMG abnormality; Facial palsy; Failure to thrive; Frequent falls; Gait disturbance; Generalized myoclonic seizures; Gowers sign; Hepatomegaly; Hoarse cry; Intellectual disability; Irritability; Joint stiffness; Joint swelling; Juvenile onset; Kyphosis; Laryngomalacia; Lipogranulomatosis; Motor delay; Myoclonus; Neurological speech impairment; Nystagmus; Oral-pharyngeal dysphagia; Osteoporosis; Periarticular subcutaneous nodules; Progressive; Progressive distal muscular atrophy; Recurrent respiratory infections; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Scoliosis; Short stature; Spinal muscular atrophy; Splenomegaly; Tongue fasciculations; Tremor; Variable expressivity
ATP7B13q14.3100%gene with protein product606882WNDAbnormality of the hand; Abnormality of the menstrual cycle; Acute hepatic failure; Acute hepatitis; Aggressive behavior; Aminoaciduria; Anemia; Arthralgia; Arthritis; Atypical or prolonged hepatitis; Autosomal recessive inheritance; Back pain; Bone pain; Bruising susceptibility; Chondrocalcinosis; Cirrhosis; Clumsiness; Coma; Dementia; Depressivity; Difficulty walking; Drooling; Dysarthria; Dysphagia; Dystonia; Elevated hepatic transaminases; Esophageal varix; Failure to thrive; Glycosuria; Hemolytic anemia; Hepatic failure; Hepatic steatosis; Hepatomegaly; High nonceruloplasmin-bound serum copper; Hypercalciuria; Hyperphosphaturia; Hypersexuality; Hypoparathyroidism; Increased body weight; Intellectual disability; Jaundice; Joint hypermobility; Joint swelling; Kayser-Fleischer ring; Mixed demyelinating and axonal polyneuropathy; Nephrolithiasis; Osteoarthritis; Osteomalacia; Osteoporosis; Pathologic fracture; Personality changes; Poor motor coordination; Proteinuria; Proximal muscle weakness in lower limbs; Pruritus; Renal tubular dysfunction; Splenomegaly; Thrombocytopenia; Tremor; Weight loss
BTNL26p21.32gene with protein product606000Chest pain; Cough; Dyspnea; Erythema nodosum; Fatigue; Fever; Increase in T cell count; Joint swelling; Leukopenia; Thrombocytopenia; Uveitis; Weight loss
CD2471q24.2100%gene with protein product186780CD3ZAntinuclear antibody positivity; Apraxia; Arthralgia; Autosomal recessive inheritance; Decrease in T cell count; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Eosinophilia; Immunodeficiency; Infantile onset; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis; Protracted diarrhea; Susceptibility to herpesvirusPrimary Immunodeficiency
CD2471q24.2100%gene with protein product186780CD3ZAntinuclear antibody positivity; Apraxia; Arthralgia; Autosomal recessive inheritance; Decrease in T cell count; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Eosinophilia; Immunodeficiency; Infantile onset; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis; Protracted diarrhea; Susceptibility to herpesvirusPrimary Immunodeficiency
CHEK222q12.199.84%gene with protein product604373RAD53Abnormal lactate dehydrogenase activity; Abnormality of metabolism/homeostasis; Abnormality of the fallopian tube; Abnormality of the femoral metaphysis; Abnormality of the tibial metaphysis; Autosomal dominant inheritance; Breast carcinoma; Elevated alkaline phosphatase; Glioma; Joint swelling; Lymphoma; Meningioma; Neoplasm of the adrenal cortex; Neoplasm of the colon; Neoplasm of the nervous system; Neoplasm of the pancreas; Neoplasm of the skin; Osteolysis; Osteosarcoma; Ovarian neoplasm; Pain; Primary peritoneal carcinoma; Progressive encephalopathy; Retinoblastoma; Sarcoma; Stomach cancerAplastic Anemia
FGA4q31.3100%gene with protein product134820Abnormal bleeding; Autosomal dominant inheritance; Autosomal recessive inheritance; Cholestasis; Edema; Epistaxis; Gastrointestinal hemorrhage; Generalized amyloid deposition; Gingival bleeding; Hematuria; Hepatomegaly; Hypertension; Hypofibrinogenemia; Joint swelling; Menometrorrhagia; Nephropathy; Nephrotic syndrome; Proteinuria; Skin rash; Splenic rupture; Splenomegaly; Spontaneous abortion; Venous thrombosis
FGB4q31.3100%gene with protein product134830Abnormal bleeding; Autosomal recessive inheritance; Epistaxis; Gastrointestinal hemorrhage; Gingival bleeding; Hypofibrinogenemia; Joint swelling; Menometrorrhagia; Splenic rupture; Spontaneous abortion; Venous thrombosis
FGG4q32.1100%gene with protein product134850Abnormal bleeding; Autosomal recessive inheritance; Epistaxis; Gastrointestinal hemorrhage; Gingival bleeding; Hypofibrinogenemia; Joint swelling; Menometrorrhagia; Splenic rupture; Spontaneous abortion; Venous thrombosis
GPR101Xq26.3100%gene with protein product300393Abnormal toenail morphology; Abnormality of the fingernails; Acanthosis nigricans; Accelerated skeletal maturation; Anterior hypopituitarism; Anxiety; Arthralgia; Broad foot; Broad forehead; Broad jaw; Cerebral palsy; Coarse facial features; Cortical diaphyseal thickening of the upper limbs; Deep palmar crease; Deep plantar creases; Depressivity; Diabetes mellitus; Dysmenorrhea; Fatigue; Frontal bossing; Full cheeks; Generalized hirsutism; Growth hormone excess; Hoarse voice; Hyperhidrosis; Hypertension; Joint swelling; Kyphosis; Large hands; Long face; Long foot; Long penis; Macrodactyly; Macroglossia; Macrotia; Mandibular prognathia; Migraine; Osteoarthritis; Palpebral edema; Paresthesia; Pituitary adenoma; Pituitary prolactin cell adenoma; Polyphagia; Sleep apnea; Snoring; Spinal canal stenosis; Synophrys; Tall stature; Tapered finger; Thick lower lip vermilion; Ventricular hypertrophy; Wide nose; Widely spaced teeth; X-linked dominant inheritance
HGD3q13.3399.98%gene with protein product607474AKUAbnormality of metabolism/homeostasis; Abnormality of the ear; Abnormality of the nail; Abnormality of the nose; Abnormality of the urinary system; Abnormality of vision; Aminoaciduria; Aortic aneurysm; Aortic valve calcification; Arthralgia; Arthritis; Arthropathy; Autosomal recessive inheritance; Back pain; Blue sclerae; Calcification of cartilage; Cartilage destruction; Coronary artery calcification; Growth abnormality; Hearing abnormality; Intervertebral disc degeneration; Intervertebral disk calcification; Irregular hyperpigmentation; Joint dislocation; Joint stiffness; Joint swelling; Kyphosis; Mitral valve calcification; Nephrolithiasis; Osteoarthritis; Pigmentation of the sclera; Prostatitis; Tendon rupture; Thickened Achilles tendon; Vertebral fusionNephrotic Syndrome ; Palmoplantar keratoderma plus congenital ichthyosis
HLA-DRB16p21.3297.56%gene with protein productXomeDxSlice is not appropriate.142857HLA-DR1BAbnormal blistering of the skin; Abnormal rapid eye movement sleep; Abnormality of vision; Arthralgia; Arthritis; Autoimmunity; Carious teeth; Cataplexy; Chest pain; Cough; Diabetes mellitus; Dyspareunia; Dysphagia; Dyspnea; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Erythema; Erythema nodosum; Excessive daytime sleepiness; Excessive daytime somnolence; Fatigue; Fever; Flexion contracture; Gastroesophageal reflux; Hallucinations; Hypopigmented skin patches; Increase in T cell count; Insomnia; Joint swelling; Juvenile rheumatoid arthritis; Leukopenia; Lymphadenopathy; Lymphoma; Macule; Malabsorption; Mediastinal lymphadenopathy; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Night sweats; Oliguria; Osteolysis; Psoriasiform dermatitis; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent infections; Skin rash; Skin ulcer; Splenomegaly; Telangiectasia of the skin; Thrombocytopenia; Transient global amnesia; Urticaria; Uveitis; Weight loss; Xerostomia
HLA-DRB16p21.3297.56%gene with protein productXomeDxSlice is not appropriate.142857HLA-DR1BAbnormal blistering of the skin; Abnormal rapid eye movement sleep; Abnormality of vision; Arthralgia; Arthritis; Autoimmunity; Carious teeth; Cataplexy; Chest pain; Cough; Diabetes mellitus; Dyspareunia; Dysphagia; Dyspnea; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Erythema; Erythema nodosum; Excessive daytime sleepiness; Excessive daytime somnolence; Fatigue; Fever; Flexion contracture; Gastroesophageal reflux; Hallucinations; Hypopigmented skin patches; Increase in T cell count; Insomnia; Joint swelling; Juvenile rheumatoid arthritis; Leukopenia; Lymphadenopathy; Lymphoma; Macule; Malabsorption; Mediastinal lymphadenopathy; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Night sweats; Oliguria; Osteolysis; Psoriasiform dermatitis; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent infections; Skin rash; Skin ulcer; Splenomegaly; Telangiectasia of the skin; Thrombocytopenia; Transient global amnesia; Urticaria; Uveitis; Weight loss; Xerostomia
HPGD4q34.199.69%gene with protein product601688Abnormal cortical bone morphology; Abnormal hair quantity; Abnormality of epiphysis morphology; Abnormality of the fingernails; Abnormality of the knee; Abnormality of tibia morphology; Acne; Arthralgia; Arthritis; Arthropathy; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Clubbing; Clubbing of toes; Coarse facial features; Congenital onset; Cutis gyrata of scalp; Disproportionate tall stature; Eczematoid dermatitis; Erythema; High palate; Hyperhidrosis; Joint stiffness; Joint swelling; Large fontanelles; Limitation of joint mobility; Long clavicles; Mottled pigmentation; Osteoarthritis; Osteolysis; Osteolytic defects of the phalanges of the hand; Osteomyelitis; Osteopenia; Osteoporosis; Palmoplantar hyperkeratosis; Patent ductus arteriosus; Pectus excavatum; Ptosis; Redundant skin; Seborrheic dermatitis; Thickened calvaria; Wormian bones
HPGD4q34.199.69%gene with protein product601688Abnormal cortical bone morphology; Abnormal hair quantity; Abnormality of epiphysis morphology; Abnormality of the fingernails; Abnormality of the knee; Abnormality of tibia morphology; Acne; Arthralgia; Arthritis; Arthropathy; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Clubbing; Clubbing of toes; Coarse facial features; Congenital onset; Cutis gyrata of scalp; Disproportionate tall stature; Eczematoid dermatitis; Erythema; High palate; Hyperhidrosis; Joint stiffness; Joint swelling; Large fontanelles; Limitation of joint mobility; Long clavicles; Mottled pigmentation; Osteoarthritis; Osteolysis; Osteolytic defects of the phalanges of the hand; Osteomyelitis; Osteopenia; Osteoporosis; Palmoplantar hyperkeratosis; Patent ductus arteriosus; Pectus excavatum; Ptosis; Redundant skin; Seborrheic dermatitis; Thickened calvaria; Wormian bones
IL1RN2q14.1100%gene with protein product147679Arthralgia; Autosomal recessive inheritance; Epidermal acanthosis; Fetal distress; Hepatomegaly; Hyperkeratosis; Joint swelling; Osteomyelitis; Periostitis; Splenomegaly; Stomatitis
IL2RA10p15.1100%gene with protein product147730IL2R, IDDM10Alopecia; Antinuclear antibody positivity; Apraxia; Arthralgia; Autoimmune hemolytic anemia; Autosomal recessive inheritance; Chronic diarrhea; Decrease in T cell count; Dental malocclusion; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Hepatomegaly; Hepatosplenomegaly; IgA deficiency; Immunodeficiency; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Lymphadenopathy; Polyarticular arthritis; Recurrent bacterial infections; Recurrent fungal infections; Recurrent respiratory infections; Recurrent viral infections; Splenomegaly; Villous atrophyAutoimmune Disorders ; Inflammatory Bowel Disease
IL2RA10p15.1100%gene with protein product147730IL2R, IDDM10Alopecia; Antinuclear antibody positivity; Apraxia; Arthralgia; Autoimmune hemolytic anemia; Autosomal recessive inheritance; Chronic diarrhea; Decrease in T cell count; Dental malocclusion; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Hepatomegaly; Hepatosplenomegaly; IgA deficiency; Immunodeficiency; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Lymphadenopathy; Polyarticular arthritis; Recurrent bacterial infections; Recurrent fungal infections; Recurrent respiratory infections; Recurrent viral infections; Splenomegaly; Villous atrophyAutoimmune Disorders ; Inflammatory Bowel Disease
IL2RB22q12.3100%gene with protein product146710IL15RBAntinuclear antibody positivity; Apraxia; Arthralgia; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis
IL2RB22q12.3100%gene with protein product146710IL15RBAntinuclear antibody positivity; Apraxia; Arthralgia; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis
IL67p15.3100%gene with protein product147620IFNB2Arthralgia; Autoimmunity; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Fever; Joint swelling; Juvenile rheumatoid arthritis; Lymphadenopathy; Skin rash
LACC113q14.11100%gene with protein product613409C13orf31Arthralgia; Autoimmunity; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Fever; Joint swelling; Juvenile rheumatoid arthritis; Lymphadenopathy; Skin rash
LMX1B9q33.399.76%gene with protein product602575NPS1Abnormality of the fingernails; Absence of pectoralis minor muscle; Absent distal interphalangeal creases; Anonychia; Antecubital pterygium; Aplasia/Hypoplasia of the patella; Autosomal dominant inheritance; Biceps aplasia; Cataract; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Concave nail; Cubitus valgus; Disproportionate prominence of the femoral medial condyle; Elongated radius; Exostoses; Glaucoma; Glenoid fossa hypoplasia; Glomerulonephritis; Hematuria; Hypoplasia of first ribs; Hypoplastic radial head; Hypoplastic toenails; Iliac horns; Joint hyperflexibility; Joint stiffness; Joint swelling; Keratoconus; Limited elbow extension; Lumbar hyperlordosis; Microcornea; Microphakia; Nephrotic syndrome; Osteoarthritis; Patellar aplasia; Patellar dislocation; Pectus excavatum; Pes planus; Proteinuria; Ptosis; Quadriceps aplasia; Renal insufficiency; Ridged nail; Scoliosis; Sensorineural hearing impairment; Short stature; Skeletal dysplasia; Spina bifida; Talipes equinovarus; Thickening of the lateral border of the scapula; Triceps aplasiaNephrotic Syndrome
MIF22q11.23100%gene with protein product153620GLIFArthralgia; Autoimmunity; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Fever; Joint swelling; Juvenile rheumatoid arthritis; Lymphadenopathy; Skin rash
NOD216q12.1100%gene with protein product605956IBD1, CARD15Abnormality of the cranial nerves; Abnormality of the ear; Arthralgia; Arthritis; Autosomal dominant inheritance; Band keratopathy; Camptodactyly of finger; Cataract; Cystoid macular edema; Dry skin; Eczema; Erythema; Erythema nodosum; Fever; Flexion contracture of toe; Glaucoma; Hyperpigmentation of the skin; Intermittent generalized erythematous papular rash; Iridocyclitis; Iritis; Joint swelling; Keratitis; Limitation of joint mobility; Nongranulomatous uveitis; Papule; Photophobia; Polyarticular arthritis; Posterior uveitis; Skin rash; Skin ulcer; Synovitis; Tendonitis; UveitisInflammatory Bowel Disease ; Primary Immunodeficiency
NOD216q12.1100%gene with protein product605956IBD1, CARD15Abnormality of the cranial nerves; Abnormality of the ear; Arthralgia; Arthritis; Autosomal dominant inheritance; Band keratopathy; Camptodactyly of finger; Cataract; Cystoid macular edema; Dry skin; Eczema; Erythema; Erythema nodosum; Fever; Flexion contracture of toe; Glaucoma; Hyperpigmentation of the skin; Intermittent generalized erythematous papular rash; Iridocyclitis; Iritis; Joint swelling; Keratitis; Limitation of joint mobility; Nongranulomatous uveitis; Papule; Photophobia; Polyarticular arthritis; Posterior uveitis; Skin rash; Skin ulcer; Synovitis; Tendonitis; UveitisInflammatory Bowel Disease ; Primary Immunodeficiency
OCRLXq26.199.83%gene with protein product300535Abnormal pupil morphology; Abnormality of calcium-phosphate metabolism; Abnormality of the renal tubule; Abnormality of the voice; Aggressive behavior; Amblyopia; Aminoaciduria; Anxiety; Areflexia; Arthritis; Attention deficit hyperactivity disorder; Benign neoplasm of the central nervous system; Bicarbonaturia; Buphthalmos; Camptodactyly of finger; Cataract; Childhood onset; Chronic kidney disease; Clonus; Cognitive impairment; Congenital cataract; Constipation; Cryptorchidism; Deeply set eye; Dehydration; Dense posterior cortical cataract; Depressivity; Dysphasia; EEG abnormality; Elevated amniotic fluid alpha-fetoprotein; Elevated maternal serum alpha-fetoprotein; Elevated serum acid phosphatase; Elevated serum creatine phosphokinase; Failure to thrive; Feeding difficulties in infancy; Fine hair; Finger swelling; Frontal bossing; Full cheeks; Generalized hypopigmentation; Genu valgum; Glaucoma; Global developmental delay; Glomerulopathy; Hip dislocation; Hypercalciuria; Hypercholesterolemia; Hyperparathyroidism; Hyperphosphaturia; Hypokalemia; Hyponatremia; Hypoplasia of dental enamel; Intellectual disability; Joint hyperflexibility; Joint hypermobility; Joint swelling; Kyphosis; Long face; Low-molecular-weight proteinuria; Low-set, posteriorly rotated ears; Microphthalmia; Neonatal hypotonia; Neoplasm of the skin; Nystagmus; Obsessive-compulsive behavior; Osteomalacia; Pathologic fracture; Periventricular cysts; Platyspondyly; Proteinuria; Protruding ear; Proximal renal tubular acidosis; Proximal tubulopathy; Recurrent fractures; Reduced visual acuity; Renal Fanconi syndrome; Renal insufficiency; Rickets; Scoliosis; Seizures; Self-injurious behavior; Short stature; Sparse scalp hair; Stereotypy; Subcutaneous nodule; Thrombocytopenia; Ventriculomegaly; Visual impairment; Vitamin D deficiency; Wrist swelling; X-linked recessive inheritance
OTULIN5p15.2100%gene with protein product615712FAM105BArthralgia; Autosomal recessive inheritance; Failure to thrive; Joint swelling; Leukocytosis; Lipodystrophy; Lymphadenopathy; Myalgia; Neutrophilia
PTPN218p11.2199.84%gene with protein product176887PTPTAntinuclear antibody positivity; Apraxia; Arthralgia; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis
PTPN218p11.2199.84%gene with protein product176887PTPTAntinuclear antibody positivity; Apraxia; Arthralgia; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis
PTPN221p13.299.15%gene with protein product600716PTPN8Abdominal pain; Abnormal eyebrow morphology; Abnormality of the eyelashes; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Alopecia; Anorexia; Antinuclear antibody positivity; Apraxia; Arthralgia; Arthritis; Autoimmunity; Cataract; Cerebral ischemia; Chest pain; Chewing difficulties; Chronic obstructive pulmonary disease; Cognitive impairment; Cough; Dental malocclusion; Depressivity; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Fatigue; Fever; Glaucoma; Glomerulopathy; Granulomatosis; Headache; Hematuria; Hemoptysis; Hypopigmented skin patches; Inflammatory abnormality of the eye; Iridocyclitis; Joint dislocation; Joint stiffness; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Nausea and vomiting; Ophthalmoparesis; Papule; Periorbital edema; Poliosis; Polyarticular arthritis; Premature graying of hair; Proteinuria; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Retinal detachment; Sensorineural hearing impairment; Short stature; Sinusitis; Skin rash; Sparse scalp hair; Vasculitis; Visual impairment; Vitiligo; Weight loss
PTPN221p13.299.15%gene with protein product600716PTPN8Abdominal pain; Abnormal eyebrow morphology; Abnormality of the eyelashes; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Alopecia; Anorexia; Antinuclear antibody positivity; Apraxia; Arthralgia; Arthritis; Autoimmunity; Cataract; Cerebral ischemia; Chest pain; Chewing difficulties; Chronic obstructive pulmonary disease; Cognitive impairment; Cough; Dental malocclusion; Depressivity; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Fatigue; Fever; Glaucoma; Glomerulopathy; Granulomatosis; Headache; Hematuria; Hemoptysis; Hypopigmented skin patches; Inflammatory abnormality of the eye; Iridocyclitis; Joint dislocation; Joint stiffness; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Nausea and vomiting; Ophthalmoparesis; Papule; Periorbital edema; Poliosis; Polyarticular arthritis; Premature graying of hair; Proteinuria; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Retinal detachment; Sensorineural hearing impairment; Short stature; Sinusitis; Skin rash; Sparse scalp hair; Vasculitis; Visual impairment; Vitiligo; Weight loss
RB113q14.296.48%gene with protein product614041OSRCAbnormal dermatoglyphics; Abnormal lactate dehydrogenase activity; Abnormality of cardiovascular system morphology; Abnormality of metabolism/homeostasis; Abnormality of the femoral metaphysis; Abnormality of the tibial metaphysis; Autosomal dominant inheritance; Brachydactyly; Cataract; Cleft palate; Clinodactyly of the 5th finger; Elevated alkaline phosphatase; Epicanthus; Finger syndactyly; Hypertelorism; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Joint swelling; Leukemia; Leukocoria; Low-set ears; Lymphoma; Microcephaly; Micrognathia; Microphthalmia; Muscular hypotonia; Neoplasm of the lung; Osteolysis; Osteosarcoma; Pain; Pinealoma; Prominent nasal bridge; Protruding ear; Ptosis; Retinal calcification; Retinoblastoma; Short neck; Short stature; Somatic mutation; Sporadic; Thickened helices; Transitional cell carcinoma of the bladder; Trigonocephaly; Vitreous hemorrhage; Wide nasal bridge
SLC40A12q32.299.99%gene with protein product604653SLC11A3, FPN1Abdominal pain; Arrhythmia; Arthralgia; Autosomal dominant inheritance; Cardiomyopathy; Cataract; Fatigue; Generalized hyperpigmentation; Glucose intolerance; Hepatic steatosis; Impotence; Increased serum ferritin; Joint dislocation; Joint swelling; Limitation of joint mobility; Osteoarthritis
SLCO2A13q22.1-q22.2100%gene with protein product601460SLC21A2, MATR1Abnormal cortical bone morphology; Abnormal hair quantity; Abnormality of epiphysis morphology; Abnormality of the fingernails; Acne; Arthralgia; Arthritis; Autosomal recessive inheritance; Bone pain; Clubbing; Clubbing of toes; Coarse facial features; Cutis gyrata of scalp; Hyperhidrosis; Joint swelling; Limitation of joint mobility; Osteolysis; Osteomyelitis; Periostosis; Ptosis; Seborrheic dermatitis
STAT42q32.2-q32.399.99%gene with protein product600558Abdominal pain; Abnormal blistering of the skin; Acne; Antinuclear antibody positivity; Apraxia; Arthralgia; Arthritis; Confusion; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Polyarticular arthritis; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
STAT42q32.2-q32.399.99%gene with protein product600558Abdominal pain; Abnormal blistering of the skin; Acne; Antinuclear antibody positivity; Apraxia; Arthralgia; Arthritis; Confusion; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Polyarticular arthritis; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
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
TYK219p13.299.99%gene with protein product176941Antinuclear antibody positivity; Apraxia; Arthralgia; Autosomal recessive inheritance; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Immunodeficiency; Increased IgE level; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis; Recurrent fungal infections; Recurrent mycobacterial infections; Recurrent respiratory infections; Recurrent viral infectionsAutoimmune Disorders
TYK219p13.299.99%gene with protein product176941Antinuclear antibody positivity; Apraxia; Arthralgia; Autosomal recessive inheritance; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Immunodeficiency; Increased IgE level; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis; Recurrent fungal infections; Recurrent mycobacterial infections; Recurrent respiratory infections; Recurrent viral infectionsAutoimmune Disorders
WISP36q21100%gene with protein product603400CCN6Abnormality of the foot; Abnormality of the knee; Arthropathy; Autosomal recessive inheritance; Camptodactyly of finger; Coxa vara; Decreased cervical spine mobility; Difficulty walking; Enlarged epiphyses; Enlarged interphalangeal joints; Enlarged metacarpophalangeal joints; Enlargement of the proximal femoral epiphysis; Flattened epiphysis; Gait disturbance; Genu varum; Joint stiffness; Joint swelling; Kyphoscoliosis; Kyphosis; Metaphyseal widening; Methylmalonic acidemia; Muscle weakness; Osteoarthritis; Osteoporosis; Platyspondyly; Sclerotic vertebral endplates; Scoliosis; Short stature; Waddling gait


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