XomeDxSlice Tool

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

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Phenotypes
Arthritis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCG52p2199.88%gene with protein product605459Abdominal pain; Abnormal bleeding; Abnormal internal carotid artery morphology; Abnormality of the integument; Abnormality of the liver; Angina pectoris; Aortic atherosclerosis; Arthralgia; Arthritis; Autosomal recessive inheritance; Cerebral artery atherosclerosis; Chronic hemolytic anemia; Coronary artery atherosclerosis; Dyspnea; Episodic hemolytic anemia; Giant platelets; Heart murmur; Hepatic steatosis; Hyperapobetalipoproteinemia; Hypercholesterolemia; Hyperlipidemia; Hypertension; Impaired platelet aggregation; Increased circulating low-density lipoprotein levels; Left ventricular failure; Myocardial infarction; Myocardial steatosis; Peripheral arterial stenosis; Precocious atherosclerosis; Premature arteriosclerosis; Premature coronary artery atherosclerosis; Renal artery stenosis; Reticulocytosis; Splenomegaly; Stomatocytosis; Sudden cardiac deathHemolytic Anemia
ABCG82p21100%gene with protein product605460Abdominal pain; Abnormal bleeding; Abnormal internal carotid artery morphology; Abnormality of the integument; Abnormality of the liver; Angina pectoris; Aortic atherosclerosis; Arthralgia; Arthritis; Autosomal recessive inheritance; Cerebral artery atherosclerosis; Chronic hemolytic anemia; Coronary artery atherosclerosis; Dyspnea; Episodic hemolytic anemia; Giant platelets; Heart murmur; Hepatic steatosis; Hyperapobetalipoproteinemia; Hypercholesterolemia; Hyperlipidemia; Hypertension; Impaired platelet aggregation; Increased circulating low-density lipoprotein levels; Left ventricular failure; Myocardial infarction; Myocardial steatosis; Peripheral arterial stenosis; Precocious atherosclerosis; Premature arteriosclerosis; Premature coronary artery atherosclerosis; Renal artery stenosis; Reticulocytosis; Splenomegaly; Stomatocytosis; Sudden cardiac deathHemolytic Anemia
ADA222q11.199.99%gene with protein productFormer name = CECR1607575IDGFL, CECR1Abdominal pain; Agitation; Amaurosis fugax; Antiphospholipid antibody positivity; Aphasia; Arterial stenosis; Arthritis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Behavioral abnormality; Cutis marmorata; Dementia; Developmental regression; Dilatation; Dysarthria; Elevated hepatic transaminases; Erythema nodosum; Facial palsy; Fever; Headache; Hemiparesis; Hemiplegia; Hepatomegaly; Hypertension; Immunodeficiency; Memory impairment; Mental deterioration; Migraine; Motor delay; Muscle weakness; Myalgia; Ophthalmoplegia; Panniculitis; Peripheral neuropathy; Progressive; Purpura; Raynaud phenomenon; Seizures; Splenomegaly; Sporadic; Stroke; Thromboembolic stroke; Tremor; Variable expressivity; Vertigo; Visual field defectAutoimmune Disorders
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
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
BLNK10q24.1100%gene with protein product604515Agammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Chronic sinusitis; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Neutropenia; Osteomyelitis; Recurrent bacterial infections; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
BTKXq22.199.99%gene with protein product300300AGMX1, IMD1Abnormality of the tonsils; Agammaglobulinemia; Arthritis; Cellulitis; Chronic diarrhea; Chronic otitis media; Conjunctivitis; Cor pulmonale; Delayed skeletal maturation; Delayed speech and language development; Diarrhea; Encephalitis; Enteroviral dermatomyositis syndrome; Enteroviral hepatitis; Epididymitis; Failure to thrive; Fatigue; Fever; Glossoptosis; Growth hormone deficiency; Hearing impairment; Hypocalcemia; Immunodeficiency; Lymph node hypoplasia; Meningitis; Neoplasm; Neutropenia; Otitis media; Panhypogammaglobulinemia; Pneumonia; Prostatitis; Pyoderma; Recurrent bacterial infections; Recurrent cutaneous abscess formation; Recurrent enteroviral infections; Recurrent pneumonia; Recurrent urinary tract infections; Sensorineural hearing impairment; Sepsis; Septic arthritis; Short stature; Sinusitis; Skin rash; Skin ulcer; X-linked recessive inheritanceAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
C1R12p13.3144.8%gene with protein product613785Agenesis of permanent teeth; Alveolar bone loss around teeth; Arthralgia; Arthritis; Atrophic scars; Atrophy of alveolar ridges; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Bruising susceptibility; Complement deficiency; Discoid lupus rash; Gingival bleeding; Gingival overgrowth; Gingival recession; Hoarse voice; Hyperextensible skin; Hypermelanotic macule; Inguinal hernia; Joint hyperflexibility; Joint laxity; Microdontia; Nephritis; Palmoplantar cutis laxa; Periodontitis; Poor wound healing; Premature loss of teeth; Recurrent bronchitis; Short stature; Soft skin; Thin skinAlbinism
C4A6p21.330 %gene with protein productLocated in the Chr 6 MHC Region120810Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Autosomal recessive inheritance; Complement deficiency; Confusion; Cutaneous photosensitivity; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Glomerulonephritis; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Purpura; Recurrent aphthous stomatitis; Subcutaneous nodule; Systemic lupus erythematosus; Vasculitis; Venous thrombosisHemolytic Anemia
CAV17q31.2100%gene with protein product601047CAVAbnormality of skin pigmentation; Abnormality of the face; Absence of subcutaneous fat; Acanthosis nigricans; Accelerated skeletal maturation; Arthralgia; Arthritis; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bone cyst; Broad foot; Carious teeth; Clonus; Congenital cataract; Decreased adipose tissue around neck; Diabetes mellitus; Distal sensory impairment; Dysmetria; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gait ataxia; Gastroesophageal reflux; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hepatosplenomegaly; Hirsutism; Hypercholesterolemia; Hyperhidrosis; Hyperinsulinemia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Hypocalcemia; Hypopigmented skin patches; Incomplete penetrance; Increased pulmonary vascular resistance; Insulin resistance; Intellectual disability; Lack of facial subcutaneous fat; Large hands; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Lower limb muscle weakness; Malabsorption; Mandibular prognathia; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Nystagmus; Oliguria; Orthostatic hypotension; Osteolysis; Pancreatitis; Pigmentary retinopathy; Precocious puberty; Prominent supraorbital ridges; Pulmonary arterial hypertension; Pulmonary fibrosis; Pulmonary infiltrates; Reduced subcutaneous adipose tissue; Short stature; Skeletal muscle hypertrophy; Skin ulcer; Telangiectasia of the skin; Variable expressivity; Xerostomia
CCR13p21.31100%gene with protein product601159SCYAR1, CMKBR1Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
CCR66q27100%gene with protein product601835STRL22Arthralgia; Arthritis; Autoimmunity; Carious teeth; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gastroesophageal reflux; Hypopigmented skin patches; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Osteolysis; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
CD79A19q13.299.5%gene with protein product112205IGAAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Osteomyelitis; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
CD79B17q23.3100%gene with protein product147245IGBAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Chronic sinusitis; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Osteomyelitis; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders ; Common Variable Immune Deficiency
CFI4q2599.38%gene with protein product217030IFArthritis; Autosomal recessive inheritance; Decreased serum complement C3; Decreased serum complement factor B; Decreased serum complement factor H; Decreased serum complement factor I; Glomerulonephritis; Juvenile onset; Pyelonephritis; Recurrent Haemophilus influenzae infections; Recurrent meningitis; Recurrent meningococcal disease; Recurrent otitis media; Recurrent sinusitis; Recurrent skin infections; Recurrent streptococcus pneumoniae infections; Recurrent urinary tract infections; Renal insufficiency; Vasculitis
CLCN716p13.3100%gene with protein product602727Abnormal blistering of the skin; Abnormality of epiphysis morphology; Abnormality of hair texture; Abnormality of pelvic girdle bone morphology; Abnormality of temperature regulation; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the vertebral endplates; Abnormality of visual evoked potentials; Anemia; Arthritis; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bowing of the long bones; Chronic rhinitis; Craniosynostosis; Delayed eruption of teeth; Elevated serum acid phosphatase; Facial palsy; Facial paralysis; Fractures of the long bones; Frontal bossing; Generalized osteosclerosis; Genu valgum; Growth delay; Hearing impairment; Hepatomegaly; Hepatosplenomegaly; Heterogeneous; Hip osteoarthritis; Hydrocephalus; Joint dislocation; Juvenile onset; Lymphadenopathy; Macrocephaly; Mandibular osteomyelitis; Narrow chest; Nystagmus; Opsoclonus; Optic atrophy; Optic nerve compression; Osteoarthritis; Osteopetrosis; Otitis media; Pallor; Premature loss of primary teeth; Recurrent fractures; Recurrent respiratory infections; Reduced bone mineral density; Reticulocytosis; Short distal phalanx of finger; Short stature; Splenomegaly; Tremor; Visual impairment; Visual loss
CTGF6q23.2100%gene with protein product121009Arthralgia; Arthritis; Autoimmunity; Carious teeth; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gastroesophageal reflux; Hypopigmented skin patches; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Osteolysis; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
DNASE1L33p14.3100%gene with protein product602244Abdominal pain; Angioedema; Arthritis; Autoimmunity; Autosomal recessive inheritance; Complement deficiency; Conjunctivitis; Cough; Dyspnea; Episcleritis; Glomerulopathy; Hematuria; Hemoptysis; Irregular hyperpigmentation; Nausea and vomiting; Nephritis; Proteinuria; Pruritus; Renal insufficiency; Skin rash; Small vessel vasculitis; Systemic lupus erythematosus; Uveitis
ERAP15q1598.95%gene with protein product606832Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
FAS10q23.31100%gene with protein product134637FAS1, APT1, TNFRSF6Abdominal pain; Abnormal blistering of the skin; Abnormal eyebrow morphology; Abnormality of the eyelashes; Acne; Antineutrophil antibody positivity; Antinuclear antibody positivity; Antiphospholipid antibody positivity; Arthralgia; Arthritis; Autoimmune hemolytic anemia; Autoimmune neutropenia; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Cataract; Chronic noninfectious lymphadenopathy; Cognitive impairment; Confusion; Coombs-positive hemolytic anemia; Decreased lymphocyte apoptosis; Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells; Eosinophilia; Fatigue; Fever; Follicular hyperplasia; Gait disturbance; Gastrointestinal hemorrhage; Glaucoma; Hemiparesis; Hepatomegaly; Hypopigmented skin patches; Immunologic hypersensitivity; Increased IgA level; Increased IgG level; Increased IgM level; Increased proportion of HLA DR+ T cells; Iron deficiency anemia; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Platelet antibody positive; Poliosis; Premature graying of hair; Recurrent aphthous stomatitis; Reduced delayed hypersensitivity; Retinal detachment; Rheumatoid factor positive; Sensorineural hearing impairment; Short stature; Smooth muscle antibody positivity; Sparse scalp hair; Splenomegaly; Subcutaneous nodule; Urticaria; Vasculitis; Venous thrombosis; Visual impairment; VitiligoAutoimmune Disorders ; Bone Marrow Failure Syndromes
GLAXq22.199.83%gene with protein product300644Abdominal pain; Abnormal aortic valve morphology; Abnormality of the hand; Abnormality of the renal tubule; Anemia; Angina pectoris; Angiokeratoma; Anorexia; Arrhythmia; Arthralgia; Arthritis; Atrioventricular block; Bundle branch block; Cataract; Coarse facial features; Cognitive impairment; Congestive heart failure; Conjunctival telangiectasia; Corneal dystrophy; Corneal opacity; Delayed puberty; Diarrhea; Dysautonomia; Emphysema; Fasciculations; Fatigue; Hematuria; Hyperkeratosis; Hyperlipidemia; Hypertension; Hypohidrosis; Juvenile onset; Left ventricular hypertrophy; Left ventricular septal hypertrophy; Lymphedema; Malabsorption; Mitral regurgitation; Muscle cramps; Myalgia; Myocardial infarction; Nausea; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Obstructive lung disease; Optic atrophy; Paresthesia; Proteinuria; Renal insufficiency; Seizures; Short stature; Subcutaneous nodule; Telangiectasia of the skin; Tenesmus; Thick lower lip vermilion; Transient ischemic attack; Vomiting; X-linked recessive 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
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
HJV1q21.1100%gene with protein product608374HFE2Amenorrhea; Arrhythmia; Arthritis; Arthropathy; Autosomal recessive inheritance; Azoospermia; Congenital hepatic fibrosis; Congestive heart failure; Diabetes mellitus; Dilated cardiomyopathy; Elevated hepatic transaminases; Elevated transferrin saturation; Generalized hyperpigmentation; Hyperpigmentation of the skin; Hypogonadism; Impotence; Increased serum ferritin; Infertility; Lethargy; Muscle weakness; Splenomegaly; Young adult onset
HLA-B6p21.3399.17%gene with protein productXomeDxSlice is not appropriate.142830ASAbdominal pain; Abnormal aortic valve morphology; Abnormal blistering of the skin; Abnormal pattern of respiration; Abnormality of neutrophils; Acantholysis; Acne; Anemia; Anorexia; Arthralgia; Arthritis; Ascending tubular aorta aneurysm; Chest pain; Confusion; Diarrhea; Dysphagia; Erythema; Excessive salivation; Fatigue; Fever; Gait disturbance; Gangrene; Gastrointestinal hemorrhage; Hemiparesis; Hyperhidrosis; Hypertensive crisis; Hypertrophic cardiomyopathy; Immunologic hypersensitivity; Inflammatory abnormality of the eye; Macule; Meningitis; Migraine; Muscle weakness; Myalgia; Myocardial infarction; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Pulmonary arterial hypertension; Recurrent aphthous stomatitis; Seizures; Skin ulcer; Subcutaneous nodule; Vasculitis; Venous thrombosis; Weight loss
HLA-B6p21.3399.17%gene with protein productXomeDxSlice is not appropriate.142830ASAbdominal pain; Abnormal aortic valve morphology; Abnormal blistering of the skin; Abnormal pattern of respiration; Abnormality of neutrophils; Acantholysis; Acne; Anemia; Anorexia; Arthralgia; Arthritis; Ascending tubular aorta aneurysm; Chest pain; Confusion; Diarrhea; Dysphagia; Erythema; Excessive salivation; Fatigue; Fever; Gait disturbance; Gangrene; Gastrointestinal hemorrhage; Hemiparesis; Hyperhidrosis; Hypertensive crisis; Hypertrophic cardiomyopathy; Immunologic hypersensitivity; Inflammatory abnormality of the eye; Macule; Meningitis; Migraine; Muscle weakness; Myalgia; Myocardial infarction; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Pulmonary arterial hypertension; Recurrent aphthous stomatitis; Seizures; Skin ulcer; Subcutaneous nodule; Vasculitis; Venous thrombosis; Weight loss
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
HOXD102q31.1100%gene with protein product142984HOX4, HOX4DArthritis; Autosomal dominant inheritance; Calcaneovalgus deformity; Equinus calcaneus; Rocker bottom foot
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
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
IGHM14q32.33immunoglobulin geneXomeDxSlice is not appropriate.147020Agammaglobulinemia; Arthritis; Autosomal recessive inheritance; B lymphocytopenia; Bronchiectasis; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Neutropenia; Osteomyelitis; Recurrent bacterial infections; Recurrent enteroviral infections; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent sinusitis; Recurrent skin infections; Sinusitis; Skin rash
IGLL122q11.23100%gene with protein product146770IGLLAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Meningitis; Osteomyelitis; Recurrent bacterial infections; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
IL101q32.1100%gene with protein product124092Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosisAutoimmune Disorders ; Inflammatory Bowel Disease
IL12A3q25.3399.97%gene with protein product161560NKSF1Abdominal pain; Abnormal blistering of the skin; Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Acne; Antinuclear antibody positivity; Arthralgia; Arthritis; Biliary cirrhosis; Cirrhosis; Confusion; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Immunologic hypersensitivity; Increased IgM level; Jaundice; Meningitis; Migraine; Myalgia; Nausea and vomiting; Onychomycosis; Oral ulcer; Orchitis; Orthostatic hypotension; Papule; Photophobia; Portal hypertension; Pruritus; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
IL12A-AS13q25.33RNA, long non-codingXomeDxSlice is not appropriate.Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
IL12B5q33.3100%gene with protein product161561NKSF2Abnormal aortic valve morphology; Abnormal pattern of respiration; Anemia; Anorexia; Arthritis; Ascending tubular aorta aneurysm; Autosomal recessive inheritance; Chest pain; Fatigue; Fever; Gangrene; Hyperhidrosis; Hypertensive crisis; Hypertrophic cardiomyopathy; Immunodeficiency; Inflammatory abnormality of the eye; Migraine; Muscle weakness; Myalgia; Myocardial infarction; Pulmonary arterial hypertension; Seizures; Skin ulcer; Subcutaneous nodule; Vasculitis; Weight loss
IL23R1p31.399.96%gene with protein product607562Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
IRF57q32.1100%gene with protein product607218Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Arthralgia; Arthritis; Autoimmunity; Biliary cirrhosis; Carious teeth; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Dyspareunia; Dysphagia; Dyspnea; Elevated alkaline phosphatase; Flexion contracture; Gastroesophageal reflux; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Hypopigmented skin patches; Increased IgM level; Jaundice; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Onychomycosis; Orthostatic hypotension; Osteolysis; Portal hypertension; Pruritus; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
KLRC412p13.299.87%gene with protein product602893Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
LBR1q42.1299.94%gene with protein product60002411 pairs of ribs; Abnormal foot bone ossification; Abnormal joint morphology; Abnormal leukocyte morphology; Abnormal lung lobation; Abnormal ossification involving the femoral head and neck; Abnormal pelvis bone ossification; Abnormal vertebral ossification; Abnormality of cholesterol metabolism; Abnormality of chromosome segregation; Abnormality of the calcaneus; Abnormality of the gastric mucosa; Abnormality of the scapula; Abnormality of the vertebral spinous processes; Absent or minimally ossified vertebral bodies; Absent toenail; Anterior rib punctate calcifications; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Biliary cirrhosis; Bone marrow hypocellularity; Bowing of the long bones; Brachydactyly; Broad palm; Calcinosis; Calcinosis cutis; Calvarial skull defect; Cardiomegaly; Cystic hygroma; Decreased skull ossification; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dysphagia; Elevated alkaline phosphatase; Elevated hepatic transaminases; Epiphyseal stippling; Extramedullary hematopoiesis; Fatigue; Fever; Flared metaphysis; Gastroesophageal reflux; Gastrointestinal hemorrhage; Global developmental delay; Hepatic calcification; Hepatomegaly; Hepatosplenomegaly; High forehead; Horizontal sacrum; Hyperbilirubinemia; Hypertelorism; Hypoplasia of the maxilla; Hypoplastic fingernail; Hypoplastic vertebral bodies; Hyposegmentation of neutrophil nuclei; Intestinal malrotation; Irregular hyperpigmentation; Jaundice; Keratoconjunctivitis sicca; Laryngeal calcification; Lethal skeletal dysplasia; Lip telangiectasia; Long clavicles; Low-set ears; Lymphedema; Macrocephaly; Malar flattening; Mesomelia; Metaphyseal cupping; Micrognathia; Micromelia; Midface retrusion; Misalignment of teeth; Mucosal telangiectasiae; Multiple prenatal fractures; Myalgia; Narrow chest; Neonatal death; Nonimmune hydrops fetalis; Omphalocele; Palmar telangiectasia; Pancreatic islet-cell hyperplasia; Patchy variation in bone mineral density; Platyspondyly; Pleural effusion; Polydactyly; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Preeclampsia; Prominent forehead; Pruritus; Pulmonary hypoplasia; Punctate vertebral calcifications; Raynaud phenomenon; Rhizomelia; Sandal gap; Sclerodactyly; Scleroderma; Sclerosis of skull base; Severe hydrops fetalis; Severe short-limb dwarfism; Short diaphyses; Short phalanx of finger; Short ribs; Skin rash; Skin ulcer; Splenomegaly; Steatorrhea; Sternal punctate calcifications; Stillbirth; Supernumerary vertebral ossification centers; Telangiectasia of the skin; Tracheal calcification; Ulnar deviation of the hand; Xerostomia
LRBA4q31.399.84%gene with protein product606453CDC4LArthritis; Asthma; Autoimmune hemolytic anemia; Autosomal recessive inheritance; Bronchiectasis; Chronic diarrhea; Chronic lung disease; Clubbing of fingers; Colitis; Conjunctivitis; Failure to thrive; Gastritis; Growth delay; Hypothyroidism; IgA deficiency; IgM deficiency; Immunodeficiency; Lymphadenopathy; Pneumonia; Progressive; Recurrent otitis media; Recurrent sinusitis; ThrombocytopeniaAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
LRRC8A9q34.11100%gene with protein product608360LRRC8Agammaglobulinemia; Arthritis; Autosomal dominant inheritance; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Epicanthus; Failure to thrive; Fatigue; Fever; High palate; Hypertelorism; Immunodeficiency; Low-set ears; Osteomyelitis; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
MEFV16p13.3100%gene with protein product608107MEFAbdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Chest pain; Confusion; Constipation; Diarrhea; Elevated erythrocyte sedimentation rate; Episodic fever; Erysipelas; Erythema; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Hepatomegaly; Immunologic hypersensitivity; Juvenile onset; Leukocytosis; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephrotic syndrome; Oral leukoplakia; Oral ulcer; Orchitis; Papule; Pericarditis; Peritonitis; Photophobia; Pleuritis; Polyarticular arthritis; Proteinuria; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Seizures; Splenomegaly; Subcutaneous nodule; Vasculitis; Venous thrombosisInflammatory Bowel Disease ; Primary Immunodeficiency
MEFV16p13.3100%gene with protein product608107MEFAbdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Chest pain; Confusion; Constipation; Diarrhea; Elevated erythrocyte sedimentation rate; Episodic fever; Erysipelas; Erythema; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Hepatomegaly; Immunologic hypersensitivity; Juvenile onset; Leukocytosis; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephrotic syndrome; Oral leukoplakia; Oral ulcer; Orchitis; Papule; Pericarditis; Peritonitis; Photophobia; Pleuritis; Polyarticular arthritis; Proteinuria; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Seizures; Splenomegaly; Subcutaneous nodule; Vasculitis; Venous thrombosisInflammatory Bowel Disease ; Primary Immunodeficiency
MEFV16p13.3100%gene with protein product608107MEFAbdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Chest pain; Confusion; Constipation; Diarrhea; Elevated erythrocyte sedimentation rate; Episodic fever; Erysipelas; Erythema; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Hepatomegaly; Immunologic hypersensitivity; Juvenile onset; Leukocytosis; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephrotic syndrome; Oral leukoplakia; Oral ulcer; Orchitis; Papule; Pericarditis; Peritonitis; Photophobia; Pleuritis; Polyarticular arthritis; Proteinuria; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Seizures; Splenomegaly; Subcutaneous nodule; Vasculitis; Venous thrombosisInflammatory Bowel Disease ; Primary Immunodeficiency
MEFV16p13.3100%gene with protein product608107MEFAbdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Chest pain; Confusion; Constipation; Diarrhea; Elevated erythrocyte sedimentation rate; Episodic fever; Erysipelas; Erythema; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Hepatomegaly; Immunologic hypersensitivity; Juvenile onset; Leukocytosis; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephrotic syndrome; Oral leukoplakia; Oral ulcer; Orchitis; Papule; Pericarditis; Peritonitis; Photophobia; Pleuritis; Polyarticular arthritis; Proteinuria; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Seizures; Splenomegaly; Subcutaneous nodule; Vasculitis; Venous thrombosisInflammatory Bowel Disease ; Primary Immunodeficiency
MLX17q21.1100%gene with protein product602976TCFL4Abnormal aortic valve morphology; Abnormal pattern of respiration; Anemia; Anorexia; Arthritis; Ascending tubular aorta aneurysm; Chest pain; Fatigue; Fever; Gangrene; Hyperhidrosis; Hypertensive crisis; Hypertrophic cardiomyopathy; Inflammatory abnormality of the eye; Migraine; Muscle weakness; Myalgia; Myocardial infarction; Pulmonary arterial hypertension; Seizures; Skin ulcer; Subcutaneous nodule; Vasculitis; Weight loss
MVK12q24.11100%gene with protein product251170Abdominal pain; Aciduria; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the skin; Arthralgia; Arthritis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Cataract; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Cutaneous photosensitivity; Delayed skeletal maturation; Diarrhea; Dolichocephaly; Downslanted palpebral fissures; Edema; Elevated erythrocyte sedimentation rate; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Episodic fever; Failure to thrive; Fluctuating hepatomegaly; Fluctuating splenomegaly; Gastrointestinal hemorrhage; Generalized hypotonia; Global developmental delay; Headache; Hepatomegaly; Hyperkeratosis; Hypermelanotic macule; Increased IgA level; Intellectual disability; Large fontanelles; Leukocytosis; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Microcephaly; Migraine; Morbilliform rash; Muscular hypotonia; Myalgia; Neutrophilia; Normocytic hypoplastic anemia; Nyctalopia; Nystagmus; Optic disc pallor; Papule; Porokeratosis; Posteriorly rotated ears; Progressive cerebellar ataxia; Pruritus; Recurrent aphthous stomatitis; Seizures; Short stature; Skin rash; Splenomegaly; Thrombocytopenia; Triangular face; Urticaria; Vasculitis; Vertigo; VomitingInflammatory Bowel Disease ; Primary Immunodeficiency
MVK12q24.11100%gene with protein product251170Abdominal pain; Aciduria; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the skin; Arthralgia; Arthritis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Cataract; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Cutaneous photosensitivity; Delayed skeletal maturation; Diarrhea; Dolichocephaly; Downslanted palpebral fissures; Edema; Elevated erythrocyte sedimentation rate; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Episodic fever; Failure to thrive; Fluctuating hepatomegaly; Fluctuating splenomegaly; Gastrointestinal hemorrhage; Generalized hypotonia; Global developmental delay; Headache; Hepatomegaly; Hyperkeratosis; Hypermelanotic macule; Increased IgA level; Intellectual disability; Large fontanelles; Leukocytosis; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Microcephaly; Migraine; Morbilliform rash; Muscular hypotonia; Myalgia; Neutrophilia; Normocytic hypoplastic anemia; Nyctalopia; Nystagmus; Optic disc pallor; Papule; Porokeratosis; Posteriorly rotated ears; Progressive cerebellar ataxia; Pruritus; Recurrent aphthous stomatitis; Seizures; Short stature; Skin rash; Splenomegaly; Thrombocytopenia; Triangular face; Urticaria; Vasculitis; Vertigo; VomitingInflammatory Bowel Disease ; Primary Immunodeficiency
NLRC42p22.399.94%gene with protein product606831CARD12Abnormal thrombocyte morphology; Abnormality of neutrophils; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Delayed closure of the anterior fontanelle; Disseminated intravascular coagulation; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Enterocolitis; Episodic; Erythema; Failure to thrive; Fatigue; Fever; Frontal bossing; Headache; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Increased serum ferritin; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Pancytopenia; Papule; Proptosis; Pruritus; Pseudopapilledema; Sensorineural hearing impairment; Short stature; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisInflammatory Bowel Disease
NLRP31q44100%gene with protein product606416C1orf7, CIAS1Abdominal pain; Abnormal thrombocyte morphology; Abnormality of neutrophils; Abnormality of the skin; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Broad foot; Conjunctivitis; Cranial nerve paralysis; Delayed closure of the anterior fontanelle; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Episcleritis; Episodic fever; Erythema; Fatigue; Fever; Frontal bossing; Growth delay; Headache; Hearing impairment; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Infantile onset; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Papule; Progressive sensorineural hearing impairment; Proptosis; Pruritus; Pseudopapilledema; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Sensorineural hearing impairment; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisPrimary Immunodeficiency
NLRP31q44100%gene with protein product606416C1orf7, CIAS1Abdominal pain; Abnormal thrombocyte morphology; Abnormality of neutrophils; Abnormality of the skin; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Broad foot; Conjunctivitis; Cranial nerve paralysis; Delayed closure of the anterior fontanelle; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Episcleritis; Episodic fever; Erythema; Fatigue; Fever; Frontal bossing; Growth delay; Headache; Hearing impairment; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Infantile onset; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Papule; Progressive sensorineural hearing impairment; Proptosis; Pruritus; Pseudopapilledema; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Sensorineural hearing impairment; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisPrimary 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
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
PRG41q31.199.95%gene with protein product604283CACPArthritis; Arthropathy; Autosomal recessive inheritance; Congenital finger flexion contractures; Constrictive pericarditis; Coxa vara; Flattened metacarpal heads; Flattened metatarsal heads; Generalized morning stiffness; Synovial hypertrophy; Wrist flexion contracture
PSTPIP115q24.399.95%gene with protein product606347Acne; Arthralgia; Arthritis; Autosomal dominant inheritance; Fatigue; Fever; Increased antibody level in blood; Limitation of joint mobility; Lymphadenopathy; Pustule; Pyoderma; Pyoderma gangrenosum; Skin ulcer
PSTPIP115q24.399.95%gene with protein product606347Acne; Arthralgia; Arthritis; Autosomal dominant inheritance; Fatigue; Fever; Increased antibody level in blood; Limitation of joint mobility; Lymphadenopathy; Pustule; Pyoderma; Pyoderma gangrenosum; Skin ulcer
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
RAG111p12100%gene with protein product179615Abnormal lymphocyte morphology; Alopecia; Anemia; Aplasia/Hypoplasia of the eyebrow; Arthritis; Autoimmune hemolytic anemia; Autoimmune neutropenia; Autosomal recessive inheritance; B lymphocytopenia; Chronic diarrhea; Combined immunodeficiency; Conjunctivitis; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Failure to thrive secondary to recurrent infections; Fever; Hepatomegaly; Hypoplasia of the thymus; Hypoproteinemia; IgG deficiency; Infantile onset; Interstitial pneumonitis; Lymphadenopathy; Mastoiditis; Meningitis; Otitis media; Panhypogammaglobulinemia; Pneumonia; Pruritus; Recurrent bacterial infections; Recurrent fungal infections; Recurrent opportunistic infections; Recurrent respiratory infections; Recurrent viral infections; Sepsis; Severe B lymphocytopenia; Severe combined immunodeficiency; Splenomegaly; Thickened skin; ThrombocytopeniaAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
RAG211p13100%gene with protein product179616Abnormal lymphocyte morphology; Alopecia; Anemia; Aplasia/Hypoplasia of the eyebrow; Arthritis; Autosomal recessive inheritance; B lymphocytopenia; Chronic diarrhea; Combined immunodeficiency; Conjunctivitis; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Failure to thrive secondary to recurrent infections; Fever; Hepatomegaly; Hypoplasia of the thymus; Hypoproteinemia; IgG deficiency; Infantile onset; Lymphadenopathy; Mastoiditis; Meningitis; Otitis media; Panhypogammaglobulinemia; Pneumonia; Pruritus; Recurrent bacterial infections; Recurrent fungal infections; Recurrent opportunistic infections; Recurrent respiratory infections; Recurrent viral infections; Severe B lymphocytopenia; Severe combined immunodeficiency; Splenomegaly; Thickened skin; ThrombocytopeniaAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
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
TCF319p13.3100%gene with protein product147141Agammaglobulinemia; Arthritis; Autosomal dominant inheritance; B lymphocytopenia; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Osteomyelitis; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rash
TFR27q22.1100%gene with protein product604720Amenorrhea; Anemia; Arthritis; Autosomal recessive inheritance; Cardiomyopathy; Cirrhosis; Elevated hepatic transaminases; Fatigue; Hyperpigmentation of the skin; Hypogonadotrophic hypogonadism; Impotence; Increased serum ferritin; Increased serum iron; Lymphopenia; Neutropenia
TLR49q33.1100%gene with protein product603030Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
TNFRSF1A12p13.31100%gene with protein product191190TNFR1Abdominal pain; Amyloidosis; Arthralgia; Arthritis; Autosomal dominant inheritance; Conjunctival hyperemia; Constipation; Diarrhea; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Episodic fever; Erysipelas; Erythema; Hepatic amyloidosis; Intestinal obstruction; Leukocytosis; Lymphadenopathy; Muscle stiffness; Myalgia; Orchitis; Pericarditis; Periorbital edema; Pleuritis; Skin rash; Splenomegaly; VomitingPrimary Immunodeficiency
UBAC213q32.3100%gene with protein productPHGDHL1Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis


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-AlportAlport Syndrome
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-PKDPolycystic Kidney Disease
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome